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Gene: Acadvl MGI:895149

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Gene Summary

Name:
acyl-Coenzyme A dehydrogenase, very long chain
Synonyms:
VLCAD

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
impaired glucose tolerance Acadvlem1(IMPC)H HOM   Early adult 5.76×10-07
decreased fasting circulating glucose level Acadvlem1(IMPC)H HOM Early adult 1.76×10-07

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Acadvl mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Acadvl by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Obesity, Hypoketotic hypoglycemia, Exercise-induc... ORPHA:26793

The table below shows human diseases predicted to be associated to Acadvl by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Maturity-Onset Diabetes Of The Young, Type 4
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:606392
Maturity-Onset Diabetes Of The Young, Type 7
Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:610508
Type 1 Diabetes Mellitus 15
Type I diabetes mellitus, Diabetes mellitus OMIM:601666
Maturity-Onset Diabetes Of The Young, Type 6
Maturity-onset diabetes of the young OMIM:606394
Maturity-Onset Diabetes Of The Young, Type 2
Maturity-onset diabetes of the young OMIM:125851
Type 1 Diabetes Mellitus 2
Type I diabetes mellitus OMIM:125852
Type 1 Diabetes Mellitus 20
Type I diabetes mellitus OMIM:612520
Maturity-Onset Diabetes Of The Young, Type 9
Maturity-onset diabetes of the young OMIM:612225
Type 1 Diabetes Mellitus 6
Diabetes mellitus OMIM:601941
Type 1 Diabetes Mellitus 10
Diabetes mellitus OMIM:601942
Diabetes Mellitus, Transient Neonatal, 2
Transient neonatal diabetes mellitus, Type II diabetes mellitus OMIM:610374
Maturity-Onset Diabetes Of The Young, Type 1
Maturity-onset diabetes of the young OMIM:125850
Combined Oxidative Phosphorylation Deficiency 16
Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Eleva... OMIM:615395
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transami... OMIM:614480
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Proximal muscle weakness in lower limbs, Finger flexor weakness, Cardiomyopathy, Hip flexor weakn... ORPHA:63273
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Increased hepatic glycogen content, Nonketotic hypoglycemia, Hypoglycem... ORPHA:293964
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of facial musculature, Fatigue... OMIM:619477
Polyglucosan Body Myopathy 2
Muscle fiber inclusion bodies, Hand muscle weakness, Shoulder girdle muscle weakness, Muscle fibe... OMIM:616199
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Myalgia, Inflammatory myopa... ORPHA:611
Familial Isolated Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic dysfunction, Myopathy... ORPHA:154
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hypoglycemia, Congestive heart failure, Elevated circulating aspartate a... OMIM:619048
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hepatic steato... OMIM:616829
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Leg muscle stiffness, Cardiomyopathy, Lower limb pain, Distal lower limb muscle weakness, Suprave... ORPHA:320360
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:610021
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cardiomyopathy OMIM:609016
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n... OMIM:613424
Cardiac Conduction Defect
Arrhythmia, Syncope, Sudden death OMIM:115080
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Ankle flexion con... OMIM:608099
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Sudden death, Right ventricular cardiomyopathy, T-wave inversion in the right precordial leads, F... OMIM:602087
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Weakness of orbicularis oculi muscle, Limb muscle weakness, Ragged-red musc... OMIM:500002
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Weight loss,... ORPHA:75566
Distal Nebulin Myopathy
Nemaline bodies, Ankle flexion contracture, Sternocleidomastoid amyotrophy, Cardiomyopathy, Slend... ORPHA:399103
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Glycogen Storage Disease Vi
Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Increased hepatic glycog... OMIM:232700
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Limb-girdle muscular dystrophy, Limb muscle weakness, Arrhythmia, Muscular dystrophy, Left anteri... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Cardiomyopathy, Myalgia, EMG: myopathic abnormalities, W... ORPHA:171445
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615158
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Impaired gluconeogenesis, Hepatic steatosis, Hypoglycemia OMIM:261650
Myopathy, Distal, 7, Adult-Onset, X-Linked
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:301075
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Exercise intolerance, Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopat... ORPHA:1349
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:611705
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypertr... OMIM:300696
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Cardiomyocyte mitochondrial proliferation, Hypertrophic cardiomyopathy OMIM:616500
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Reduced subcutaneous adipose tissue, Hepatic steatosis, Hyper... ORPHA:280356
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hypotension, Elevated circulating hepatic transaminase concentration, At... OMIM:212138
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Myopathy, Distal, 4
Skeletal muscle atrophy, Cardiomyopathy, Thenar muscle weakness, Distal lower limb amyotrophy, Di... OMIM:614065
Familial Partial Lipodystrophy, Köbberling Type
Insulin resistance, Hyperinsulinemia, Hepatic steatosis, Hypertension, Pancreatitis, Hepatomegaly... ORPHA:79084
Muscular Dystrophy, Becker Type
Muscular dystrophy, Cardiomyopathy, Abnormal EKG, Myalgia, Arrhythmia, Calf muscle pseudohypertrophy OMIM:300376
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Portal inflammation, Ballooning hepat... OMIM:603471
Adiposis Dolorosa
Painful subcutaneous lipomas, Chronic pain, Obesity, Arthralgia, Fatigue OMIM:103200
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypogl... ORPHA:324575
Lipodystrophy, Familial Partial, Type 4
Insulin resistance, Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertension, Lipodys... OMIM:613877
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Myopathy, Distal, 1
Rimmed vacuoles, Toe extensor amyotrophy, Dilated cardiomyopathy, Tibialis anterior muscle atroph... OMIM:160500
Myopathy, Autophagic Vacuolar, Infantile-Onset
Hypertrophic cardiomyopathy, Autophagic vacuoles, Myopathy OMIM:609500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Muscular... OMIM:619566
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Rimmed vacuoles, Shoulder girdle muscle atrophy, Peroneal muscle atrophy, Z-band streaming, Foot ... OMIM:181400
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Leg muscle stiffness, Cardiomyopathy, Heart block, Foot ... ORPHA:98912
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Exercise intolerance, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Myalgia, Rag... OMIM:615418
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia OMIM:601820
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Exercise intolerance, Facial palsy, Ragged-red muscle fi... OMIM:616209
Familial Atrial Fibrillation
Exercise intolerance, Chest pain, Palpitations, Syncope, Fatigue, Atrial fibrillation, Myocardial... ORPHA:334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal mus... OMIM:601954
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Hemochromatosis, Type 4
Cardiomyopathy, Glucose intolerance, Arrhythmia, Arthralgia, Fatigue, Diabetes mellitus, Impaired... OMIM:606069
Tibial Muscular Dystrophy, Tardive
Rimmed vacuoles, Muscular dystrophy, Cardiomyopathy, Tibialis anterior muscle atrophy, Tibialis m... OMIM:600334
Cardiomyopathy, Familial Hypertrophic, 28
Apical hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, Systolic anterior mot... OMIM:619402
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Combined Oxidative Phosphorylation Deficiency 28
Abdominal pain, Fatigue, Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Glycogen Storage Disease 0, Muscle
Exercise intolerance, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enlargement,... OMIM:611556
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Exercise intole... ORPHA:457050
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Rimmed vacuoles, Limb-girdle muscular dystrophy, Shoulder girdle muscle weakness, Myopathy, Flexi... OMIM:609115
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276580
Distal Myopathy, Tateyama Type
Calf muscle hypoplasia, Increased variability in muscle fiber diameter, Abnormal muscle fiber pro... ORPHA:488650
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
Alpha-B Crystallin-Related Late-Onset Myopathy
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Accumulation of mu... ORPHA:399058
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Type II diabetes mell... ORPHA:79299
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Arrhythmia, Cardiomyopathy ORPHA:35
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Lower Motor Neuron Syndrome With Late-Adult Onset
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs... ORPHA:276435
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic... OMIM:613255
Inclusion Body Myopathy And Brain White Matter Abnormalities
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:619733
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss, Fatigue ORPHA:52416
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Systolic anterior motion of the mitral valve, Asymmetric septal hypertrophy, Cardiomyocyte hypert... OMIM:620236
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Myopathy, Distal, Tateyama Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hand ... OMIM:614321
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Dilated cardiomyopathy, Abnormal electrophysiology of sinoa... ORPHA:168796
Sick Sinus Syndrome 2
Aortic regurgitation, Left ventricular noncompaction, Torsade de pointes, Paroxysmal atrial fibri... OMIM:163800
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Prox... OMIM:614302
Polymyositis
Vasculitis, Gastrointestinal hemorrhage, Dilated cardiomyopathy, Abnormal atrioventricular conduc... ORPHA:732
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Fatty re... OMIM:618848
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
Distal Myotilinopathy
Distal amyotrophy, Cardiomyopathy, Multiple joint contractures, Abnormal muscle fiber myotilin, E... ORPHA:98911
Cardiomyopathy, Dilated, 1L
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Inc... OMIM:606685
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Lipodystrophy, Congenital Generalized, Type 3
Insulin resistance, Generalized lipodystrophy, Hepatosplenomegaly, Reduced subcutaneous adipose t... OMIM:612526
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Sinus tachycardia, Congestive... OMIM:255160
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Exercise intolerance, Cardiomyopathy, Supraventricular tachycardia, Myopathy, Fatty replacement o... OMIM:255100
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Elevated gamma-glutamyltransferase level, Acute hepatic failure, Hepat... OMIM:278000
Atrial Standstill 1
Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, Premature atrial contra... OMIM:108770
Isolated Growth Hormone Deficiency, Type Ia
Prolonged neonatal jaundice, Hypoglycemia OMIM:262400
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Limb-... OMIM:615424
Cardiomyopathy, Dilated, 1J
Dilated cardiomyopathy, Sudden death, Congestive heart failure, Abnormal left ventricular functio... OMIM:605362
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Myopathy ORPHA:366
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Chest pain, Palpitatio... OMIM:608758
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Distal Myopathy, Welander Type
Rimmed vacuoles, Distal upper limb amyotrophy, Foot dorsiflexor weakness, Myopathy, Intrinsic han... ORPHA:603
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Exercise intolerance, Cardiomyopathy, Myalgia, Limb muscle weakness, Ragged-red muscle fibers, Ar... OMIM:609286
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Card... OMIM:608807
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Atrioventricular block, Skeletal muscle atrophy, Absent P wave, Elbow flexion contracture, Palpit... OMIM:310300
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Increased body weight, Fatigue... ORPHA:276608
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Upper limb muscle weakness, Decreased muscle glycogen content, Decreased... ORPHA:263297
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Hip flexo... ORPHA:266
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:620357
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Cardiac rhabdomyoma, Prolonged QRS complex, Suprav... ORPHA:45453
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98855
Lipodystrophy, Partial, Acquired, Susceptibility To
Loss of subcutaneous adipose tissue from upper limbs, Loss of truncal subcutaneous adipose tissue... OMIM:608709
Coronary Artery Disease, Autosomal Dominant, 1
Chest pain, Obesity, Hypertension, Myocardial infarction, Diabetes mellitus OMIM:608320
Cardiomyopathy, Dilated, 1X
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:611615
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Macrophagic Myofasciitis
Arthralgia, Myalgia, Fatigue ORPHA:592
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Lipodystrophy, Familial Partial, Type 6
Insulin resistance, Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Hepa... OMIM:615980
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Arthrogryposis multiplex congenita, Failure to thrive OMIM:616326
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Increased left ventricula... OMIM:302045
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Muscle f... OMIM:300718
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Cardiomyopathy, Dilated, 1M
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, End... OMIM:607482
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatic fibrosis, Distal amyotrophy, Elevated circulating hepatic transa... OMIM:232400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycosylation of alpha-dystr... OMIM:609308
Muscular Dystrophy, Cardiac Type
Muscular dystrophy, Carnosinuria, Cardiomyopathy, Abnormal EKG OMIM:309930
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Hypog... ORPHA:369
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Increased endomysial connective tissue, Lower limb muscl... OMIM:620068
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Dilated cardiomyopathy, Interosseus muscle atrophy, Inguinal hernia, Distal lower limb muscle wea... OMIM:619903
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Fasting hypoglycemia, Hypoinsulinemia, Neonatal hypoglycemia, Hypoglycemia OMIM:240900
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Dilated cardiomyopathy, Sudden cardiac death, Congestive h... OMIM:613172
Endocardial Fibroelastosis
Endocardial fibroelastosis, Restrictive cardiomyopathy, Hypoglycemia, Congestive heart failure ORPHA:2022
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Type II diabetes mellitus, Hepatic steatosis, Hyper... OMIM:615703
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance OMIM:147630
Merrf
Multiple lipomas, Ragged-red muscle fibers, Myopathy ORPHA:551
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Danon Disease
Skeletal muscle autophagosome accumulation, Myocardial necrosis, Dilated cardiomyopathy, Generali... OMIM:300257
Maturity-Onset Diabetes Of The Young, Type 11
Obesity, Overweight, Maturity-onset diabetes of the young OMIM:613375
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Dpm3-Cdg
Rimmed vacuoles, Muscular dystrophy, Dilated cardiomyopathy, Chest pain, Calf muscle hypertrophy,... ORPHA:263494
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Cardiomyopathy, Familial Hypertrophic, 21
Sudden death, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventric... OMIM:614676
Cardiomyopathy, Dilated, 1Gg
Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure, Left ventricular noncompacti... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 1
Sudden death, Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septa... OMIM:192600
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Distal lower limb muscle weakness, Proximal muscle weakness in lower limbs, Fatty replacement of ... ORPHA:171706
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatitis, Abnormal pancreas morphology, Hepatic per... ORPHA:139507
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Atrial Septal Defect 6
Atrial fibrillation, Atrial septal defect, Bradycardia OMIM:613087
Childhood-Onset Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Exercise intolerance, Cardiomyop... ORPHA:171439
Timothy Syndrome
Atrioventricular block, Hypoglycemia, Tetralogy of Fallot, Patent foramen ovale, Ventricular sept... OMIM:601005
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Subaortic ventricular septal bulge, Hypertrophic ... OMIM:612098
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Chest pain, Paroxysmal atrial fibrillation, Left ventricular hypertr... OMIM:613874
Congenital Heart Block
Atrioventricular block, Second degree atrioventricular block, Third degree atrioventricular block... ORPHA:60041
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotra... OMIM:619386
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... ORPHA:2593
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Pontiac Fever
Myalgia, Fatigue ORPHA:99748
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoketotic hypo... OMIM:600649
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98863
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Combined Oxidative Phosphorylation Deficiency 9
Elevated gamma-glutamyltransferase level, Hypertrophic cardiomyopathy, Elevated circulating aspar... OMIM:614582
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss, Fatigue ORPHA:2023
Cardiomyopathy, Dilated, 2A
Dilated cardiomyopathy, Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, I... OMIM:611880
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Atrial flutter, Sinoatrial block... ORPHA:300751
Neonatal Hemochromatosis
Prolonged neonatal jaundice, Hypoglycemia, Congenital hepatic fibrosis ORPHA:446
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Increased endomy... OMIM:608423
Adult-Onset Nemaline Myopathy
Nemaline bodies, Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Upper li... ORPHA:171442
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased endomysial connecti... OMIM:613157
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Chest pain, Abnormal cardiovascular system physiology, Palpitations, Pul... ORPHA:422
Rhabdomyolysis, Susceptibility To, 1
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... OMIM:620235
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Pulmonary arte... OMIM:616299
Lipe-Related Familial Partial Lipodystrophy
Insulin resistance, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:435660
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Exercise intolerance, Muscular dystrophy, Cardiomyopathy, Limb-girdle muscle weakness, Hypoglycos... OMIM:615352
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Hyperinsulinemia, Hypoglycemia OMIM:606528
Congenital Myopathy 24
Nemaline bodies, Cardiomyopathy, Type 1 muscle fiber predominance, First degree atrioventricular ... OMIM:617336
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypoglycemia, Hypertrophic cardiomyopathy, Arrhythmia, Fatigue, Sudden c... ORPHA:156
Genetic Hyperferritinemia Without Iron Overload
Arthralgia, Fatigue ORPHA:254704
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Rimmed vacuoles, Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, ... OMIM:612937
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic steatosis, ... OMIM:617872
Pparg-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic c... ORPHA:79083
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myalg... OMIM:618129
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:618940
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Ketotic hypoglycemia, Hepatic steatosis, Myopathy ORPHA:26792
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiac arrest, Bradycardia OMIM:618235
Coenzyme Q10 Deficiency, Primary, 7
Hypoplastic left heart, Bradycardia, Hypertrophic cardiomyopathy, Ventricular septal defect OMIM:616276
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ch... ORPHA:3287
Idiopathic Copper-Associated Cirrhosis
Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Myopathy, Myofibrillar, 2
Skeletal muscle autophagosome accumulation, Muscular dystrophy, Quadriceps muscle weakness, Lower... OMIM:608810
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Hypertension, Left ventricular hype... OMIM:540000
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Inclusion Body Myositis
Rimmed vacuoles, Inflammatory myopathy OMIM:147421
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Chest pain, Palpitations, Prolonged Q... OMIM:604400
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Congestive heart failure, Chest... ORPHA:206569
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Dilated cardiomyopathy, Pelvic girdle muscle ... OMIM:604286
Familial Short Qt Syndrome
Atrioventricular block, Shortened QT interval, Palpitations, Syncope, Bradycardia, Ventricular ar... ORPHA:51083
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Tibial Muscular Dystrophy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... ORPHA:609
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Type II diabetes mellitus, Impaired glucose tolerance OMIM:610947
Glycogen Storage Disease Ixb
Hypoglycemia, Splenomegaly, Increased hepatic glycogen content, Hepatomegaly, Increased muscle gl... OMIM:261750
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Myofibrillar myopathy, Skeletal ... ORPHA:34516
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Limb muscle weakness, Ragged-red muscle fibers OMIM:164300
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hepatic steatosis, Hypertriglyceridemia ORPHA:436182
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Carnitine Deficiency, Systemic Primary
Cardiomyopathy, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Elevated circulating asparta... OMIM:212140
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Muscular dystrophy, Dilated cardiomyopathy, Shoulder girdle muscle weakness, Reduced muscle fiber... ORPHA:34515
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Hypertrophic cardiomyopathy, Cardiomegaly, Bradycardia, Pericardial effusion OMIM:614702
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Reduced circulating acyl-CoA oxidase act... OMIM:264470
Severe Neurodegenerative Syndrome With Lipodystrophy
Insulin resistance, Generalized lipodystrophy, Hyperinsulinemia, Hepatic steatosis, Reduced subcu... ORPHA:363400
Sengers Syndrome
Exercise intolerance, Hypertrophic cardiomyopathy, Myopathy, Pulmonary arterial hypertension, Fat... OMIM:212350
Familial Partial Lipodystrophy, Dunnigan Type
Cellulitis, Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic st... ORPHA:2348
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Flexion contracture, Dilated cardiomyopathy, Bradycardia OMIM:618815
Oculopharyngeal Muscular Dystrophy
Rimmed vacuoles, Ragged-red muscle fibers, Myopathy, Abnormal muscle fiber morphology ORPHA:270
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I... ORPHA:79303
Lipodystrophy, Familial Partial, Type 1
Increased subcutaneous truncal adipose tissue, Increased adipose tissue around the neck, Increase... OMIM:608600
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Exercise intolerance, Skeletal muscle atrophy, Postexertional symptom exacerbation, Hypertrophic ... ORPHA:368
Insulinoma
Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Fasting hyperinsulinemia, Recurrent hy... ORPHA:97279
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Dilated cardiomyopathy, Reduced muscle fiber alpha dystroglycan, ... ORPHA:206559
Nathalie Syndrome
Arrhythmia ORPHA:2663
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Dilated cardiomyopathy, Myopathy, Decreased body weight, Type 1 fibers relatively smaller than ty... OMIM:300580
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Abnormal left ventricular function, Hypertrophic cardiomyopathy, Eff... ORPHA:3282
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Exercise intolerance, Facial palsy, Ragged-red muscle fibers OMIM:609283
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Citrullinemia, Type Ii, Neonatal-Onset
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Portal fibrosis, Elevated cir... OMIM:605814
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Dihydrolipoamide Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Decreased liver function, ... OMIM:246900
Lipodystrophy, Familial Partial, Type 2
Increased adipose tissue around the neck, Increased facial adipose tissue, Insulin-resistant diab... OMIM:151660
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
Cardiomyopathy, Dilated, 1Z
Dilated cardiomyopathy, Sudden cardiac death, Congestive heart failure OMIM:611879
Multiple Symmetric Lipomatosis
Insulin resistance, Arthralgia, Multiple lipomas, Abnormal adipose tissue morphology ORPHA:2398
Obesity Due To Melanocortin 4 Receptor Deficiency
Obesity, Hyperinsulinemia, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertensi... ORPHA:71529
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Arrhythmia, Ventricular fibrillation,... ORPHA:66529
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:613286
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Sandhoff Disease, Adult Form
Proximal muscle weakness in lower limbs, Muscle fiber atrophy, Upper limb muscle weakness ORPHA:309169
Hemochromatosis, Neonatal
Hepatic fibrosis, Hepatic failure, Hypoglycemia, Hepatocellular necrosis, Cholestasis, Cirrhosis,... OMIM:231100
Myopathy, Myofibrillar, 4
Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle fiber splitting, Auto... OMIM:609452
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Giant Axonal Neuropathy 2, Autosomal Dominant
Distal amyotrophy, Cardiomyopathy OMIM:610100
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Glucose intolerance, Joint contracture of the 5th finger, Bradycardia, Im... OMIM:614407
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Hepatic steatosis, Cardiomyopathy OMIM:615119
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Left ventricular hypertr... OMIM:613876
Combined Oxidative Phosphorylation Deficiency 23
Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:616198
Nemaline Myopathy 2
Rimmed vacuoles, Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, N... OMIM:256030
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventricular en... OMIM:613252
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Failure to thrive, Cardiomyopathy OMIM:619651
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Rimmed vacuoles, Muscular dystrophy, Shoulder girdle muscle weakness, Myalgia, Facial palsy, Flex... OMIM:603511
Cardiomyopathy Associated With Myopathy And Sudden Death
Asymmetric septal hypertrophy, Myopathy OMIM:212130
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Atrioventricular block, Shortened PR interval, Arrhythmia, Syncop... OMIM:604559
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Triangular tongue, Increased... OMIM:616827
Ebstein Malformation Of The Tricuspid Valve
Congestive heart failure, Chest pain, Cerebral ischemia, Right bundle branch block, Imperforate t... ORPHA:1880
Parenteral Nutrition-Associated Cholestasis
Elevated gamma-glutamyltransferase level, Hepatic failure, Elevated circulating hepatic transamin... ORPHA:567983
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Failure to thrive, Upper limb muscle weakness, Elbow contracture, Paroxysmal ... OMIM:613205
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Cardiomyopathy, Hepatosplenomegaly, Portal hypertension... OMIM:232500
Atrial Standstill 2
Atrial standstill, Cardiomyopathy, Absent P wave, Atrial cardiomyopathy, Dilatation of the ventri... OMIM:615745
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia OMIM:222730
Creatine Phosphokinase, Elevated Serum
Muscular dystrophy, Myalgia, Inflammatory myopathy, Myopathy, Fatigue, Abnormal muscle fiber morp... OMIM:123320
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Nemaline bodies, Global systolic dysfunction, Limb muscle weakness, Cardiomyopathy OMIM:606842
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Cidec-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Hepatic steatosis, Loss of gluteal subcutaneous adipose tiss... ORPHA:435651
Multiminicore Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Muscular dystrophy, Proximal muscle w... ORPHA:598
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, Cardiomyopathy ORPHA:67048
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Bradycardia, Ventricular septal defect OMIM:616277
Mucolipidosis Type Iii
Abnormal heart valve morphology, Fatigue, Inguinal hernia, Abnormal aortic valve morphology ORPHA:577
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Myopathy, Centronuclear, 4
Centrally nucleated skeletal muscle fibers, Exercise intolerance, Myalgia, Type 1 muscle fiber pr... OMIM:614807
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concen... OMIM:618052
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... OMIM:253700
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Lymphoma, B-cell lymphoma, Weight loss, Fatigue, Breast carcinoma ORPHA:86893
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Decreased liver... ORPHA:42
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Hepatic steatosis, Hypercholesterolemia, Hypertr... ORPHA:209902
Autosomal Dominant Optic Atrophy Plus Syndrome
Cardiomyopathy, Myopathy, Fatigue, Limb-girdle muscle weakness, Diabetes mellitus ORPHA:1215
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Type ... OMIM:616228
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic necrosis, Hepatic steatosis, Fulmina... OMIM:231530
Triokinase And Fmn Cyclase Deficiency Syndrome
Dilated cardiomyopathy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine aminotransf... OMIM:618805
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ty... OMIM:616313
Zebra Body Myopathy
Rimmed vacuoles, Nemaline bodies, Limb-girdle muscular dystrophy, Myofibrillar myopathy, EMG: myo... ORPHA:97240
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Muscular dystrophy, Shoulder girdle ... OMIM:601846
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Insulin resistance, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, L... OMIM:615381
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Cholangiocarcinoma
Biliary tract neoplasm, Abdominal pain, Fatigue ORPHA:70567
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Biventricular hypertrophy, H... OMIM:261740
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Bradycardia OMIM:614654
Idiopathic Congenital Hypothyroidism
Prolonged neonatal jaundice, Macroglossia, Bradycardia, Umbilical hernia ORPHA:95717
Ornithine Transcarbamylase Deficiency
Aminoaciduria, Hepatic failure, Splenomegaly, Hypoglycemia ORPHA:664
Leber Hereditary Optic Neuropathy
Arrhythmia, Retinal telangiectasia, Myopathy, Ventricular preexcitation ORPHA:104
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... OMIM:614096
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Hepatic failure, Elevated circulating hepatic transaminase concentrati... OMIM:616828
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Type 1 muscl... OMIM:160150
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Fatigue, Ri... OMIM:265400
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity OMIM:620270
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Eosinophilic Fasciitis
Cellulitis, Fasciitis, Myalgia, Myositis, Muscular edema, Weight loss, Arthralgia, Fatigue ORPHA:3165
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue, Failure to thrive ORPHA:79283
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Exercise intolerance, Dilated cardiomyopathy, Left ventricular noncompaction, Hypertrophic cardio... OMIM:252011
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Elevated circulating hepatic transaminase concentrat... OMIM:605911
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatic failure, Elevated circulating hepatic transaminase concentration... ORPHA:228305
Akt2-Related Familial Partial Lipodystrophy
Insulin resistance, Insulin-resistant diabetes mellitus, Increased intraabdominal fat, Hepatic st... ORPHA:79085
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Arrhythmia OMIM:618453
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Myalgia, Mitral valve prolapse, Arrhythmia,... ORPHA:230839
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased adipose tissue around the neck, Reduced subcutaneous adipose tissue, Myopathy, Hepatic ... ORPHA:280365
Muscular Dystrophy, Limb-Girdle, Type 1H
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Muscular dystrophy, I... OMIM:613530
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Ventricular fibri... OMIM:115197
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction... OMIM:617228
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Failure to thrive, Cardiomyopathy OMIM:613752
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:94080
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Wild Type Attr Amyloidosis
Aortic valve stenosis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal EKG, Ortho... ORPHA:330001
Glycogen Storage Disease Ixc
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Increased he... OMIM:613027
Systemic Capillary Leak Syndrome
Hypotension, Myalgia, Arrhythmia, Weight loss, Fatigue, Constitutional symptom, Myocarditis, Abdo... ORPHA:188
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Laing Early-Onset Distal Myopathy
Minicore myopathy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Dilated card... ORPHA:59135
Aapoaiv Amyloidosis
Atrial flutter, Hypertrophic cardiomyopathy, Elevated circulating creatinine concentration, Supra... ORPHA:439232
Sick Sinus Syndrome 4
Atrioventricular block, Sinoatrial block, Paroxysmal atrial fibrillation, Abnormal QRS complex, A... OMIM:619464
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Partial atrioventricular canal defect, Hepatic steatosis, Ventricular sep... OMIM:615996
Isobutyryl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Dilated cardiomyopathy, Pulmonic stenosis ORPHA:79159
Finnish Upper Limb-Onset Distal Myopathy
Rimmed vacuoles, Joint contracture of the hand, Intrinsic hand muscle atrophy, Weakness of the in... ORPHA:399086
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Obesity, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus OMIM:615981
Familial Colorectal Cancer Type X
Neoplasm of the colon, Stomach cancer, Neoplasm of the skeletal system, Neoplasm of the rectum, W... ORPHA:440437
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Abnormal heart morphology, Hypertrophic cardiomyopathy, Abnormal circul... ORPHA:70472
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Tall stature, Increased variability in muscle fiber diameter, Myopathy, Proximal muscle weakness ... ORPHA:1878
Epiphyseal Dysplasia, Multiple, 2
Knee pain, Fatigue, Foot pain OMIM:600204
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Lipodystrophy, Familial Partial, Type 5
Hepatic steatosis, Lipodystrophy, Hepatomegaly, Hypertension, Diabetic ketoacidosis OMIM:615238
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Solitary Fibrous Tumor
Uterine neoplasm, Genital neoplasm, Hypoglycemia, Recurrent hypoglycemia, Vaginal neoplasm, Neopl... ORPHA:2126
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Aborted sudden cardiac death, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Increased hepatic echogenicity, Hypoglycemia, Hepatic steatosis, Elevated circul... OMIM:261680
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Sudden death, Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysma... OMIM:614021
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Abnormal atrioventricular conduction, Exercise intolerance, Skeletal muscle atrophy, Cardiomyopat... ORPHA:329336
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Acquired Generalized Lipodystrophy
Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellitus, Generalized lipodystroph... ORPHA:79086
Long Qt Syndrome 5
Torsade de pointes, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardiac death, P... OMIM:613695
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Hypertrophic cardiomyopathy, Myopathy, Wolff-Parkinson-White syndrome, ... OMIM:618234
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Elevated circulating hepatic transaminase concentration, Reduced tissue medium-c... OMIM:201450
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Decreased muscle mass, Congestive heart failure, Hyperglycemia, Portal hypertensi... ORPHA:465508
Congenital Generalized Lipodystrophy
Insulin resistance, Congestive heart failure, Hypertrophic cardiomyopathy, Hyperinsulinemia, Hepa... ORPHA:528
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Short Qt Syndrome 2
Shortened QT interval, Syncope, Bradycardia, Atrial fibrillation, Ventricular fibrillation, Sudde... OMIM:609621
Congenital Myopathy 14
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... OMIM:618414
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Elevated circulating aspartate aminotran... OMIM:255120
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Bile Acid Malabsorption, Primary, 2
Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating aspartate ami... OMIM:619481
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Mitochondrial Myopathy, Infantile, Transient
Failure to thrive, Increased muscle lipid content, Hypertrophied muscle fibers, Ragged-red muscle... OMIM:500009
Cardiomyopathy, Familial Hypertrophic, 26
Left anterior fascicular block, Atrioventricular block, Congestive heart failure, Hypertrophic ca... OMIM:617047
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Hepatocellular necrosis, Hypertrophic cardiomyopathy, Reduced left ventricul... OMIM:201475
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Congestive heart failure, Myopathy, Cachexia, Arrhythmia, Flexion contra... ORPHA:157973
Ullrich Congenital Muscular Dystrophy
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Elbow fle... ORPHA:75840
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Quadriceps muscle weakness, Shou... OMIM:603689
Cardiomyopathy, Dilated, 1Bb
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:612877
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Exercise intolerance, Failure to thrive, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, G... OMIM:613561
Attrv30M Amyloidosis
Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight loss ORPHA:85447
Methylmalonic Acidemia With Homocystinuria
Fatigue, Failure to thrive ORPHA:26
Mitochondrial Complex I Deficiency, Nuclear Type 29
Exercise intolerance, Failure to thrive, Abnormal heart morphology, Hypertrophic cardiomyopathy, ... OMIM:618250
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hep... OMIM:615438
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Hyperinsulinemic Hypoglycemia, Familial, 8
Hypoglycemic seizures, Hyperinsulinemia, Atrial septal defect, Hypoglycemia OMIM:620211
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Congenital Myopathy 6 With Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscle fiber inclusion bodies, Congenital contrac... OMIM:605637
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Chest pain, Palpitations, Right bundle branch block, Premature ... OMIM:610193
Congenital Myopathy 10A, Severe Variant
Increased variability in muscle fiber diameter, Failure to thrive, Camptodactyly of finger, Muscl... OMIM:614399
Congenital Myopathy 4A, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Failure to thrive, Type 1 fib... OMIM:255310
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Rheumatic Fever
Epistaxis, Abnormal heart valve morphology, Chest pain, Abnormal aortic valve morphology, Abnorma... ORPHA:3099
Pyruvate Dehydrogenase E3 Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyo... ORPHA:2394
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration,... OMIM:611126
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiogenic shock, Biventricular hypertrophy,... OMIM:619424
Mitochondrial Dna Depletion Syndrome 11
Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Proximal amyo... OMIM:615084
Liddle Syndrome
Arrhythmia, Cerebral ischemia, Hypertension, Fatigue ORPHA:526
Barth Syndrome
Exercise intolerance, Dilated cardiomyopathy, Failure to thrive, Congestive heart failure, Hypert... OMIM:302060
Atrial Fibrillation, Familial, 7
Prolonged QTc interval, Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitatio... OMIM:612240
Long Qt Syndrome 8
Aborted sudden cardiac death, Sinus bradycardia, Syncope, Ventricular fibrillation, Sudden cardia... OMIM:618447
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Failure to thrive, Myopathy, Low-output congestive heart failure ORPHA:91130
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased endomysial connective tissue, Increased variability in muscle fiber diameter, Skeletal ... OMIM:620542
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Abnormal heart morphology, Hypoglycemia ORPHA:231147
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Patent foramen ovale, Arrhythmia, Bradycardia, Sick sinus syndrome, Pr... ORPHA:542306
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Myopathy, Myofibrillar, 6
Muscular dystrophy, Restrictive cardiomyopathy, Lower limb muscle weakness, Myofibrillar myopathy... OMIM:612954
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Weight loss, Neuroendocrine neoplasm, Neoplasm of the larynx ORPHA:100083
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Bundle branch block, Arrhythmia, Syncope, Abdominal pain, Heart block ORPHA:871
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Hypereosinophilic Syndrome, Idiopathic
Myalgia, Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder OMIM:607685
Progressive Familial Heart Block, Type Ii
Atrioventricular block, Complete heart block with narrow QRS complexes, Sinus bradycardia, Syncop... OMIM:140400
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Failure to thrive, Congestive heart failure, Muscl... ORPHA:324604
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Muscular dystrophy, Cardiomyopathy, Abnormal left ventricular function, Calf muscle hypertrophy, ... OMIM:613155
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Syncope, Ventricular arrhythmia, Sudden c... ORPHA:101016
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Arrhythmia, Joint contracture, Generalized amyotrophy OMIM:616516
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:369840
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Type II diabetes mellitus, Increased body weight, Fatigue, Diabetes mellitus, Small for gestation... OMIM:274300
Infantile Liver Failure Syndrome 2
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Cardiomyopathy, Acute hepa... OMIM:616483
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:617950
Lynch Syndrome
Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Weight loss, Hemat... ORPHA:144
Thiamine-Responsive Megaloblastic Anemia Syndrome
Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Ventricular septal defect, Arrhythmia, Atr... OMIM:249270
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Flexion contracture, Failure to thrive, Myopathy OMIM:618237
Autosomal Recessive Progressive External Ophthalmoplegia
Exercise intolerance, Cardiomyopathy, Hand muscle weakness, Muscle fiber atrophy, Ragged-red musc... ORPHA:254886
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy ORPHA:868
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Z-band streaming, Type 1 muscle fi... OMIM:618823
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Neonatal hypoglycemia, Diastasis recti, Hypoglycemia ORPHA:231140
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Skeletal muscle atrophy, Failure to thrive in infancy, Myalgia, Myopathy, W... ORPHA:254875
Spinal Arteriovenous Metameric Syndrome
Cutaneous angiolipomas, Congestive heart failure, Gangrene, Arthralgia, Fatigue, Visceral angioma... ORPHA:53721
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Acute hepatic... OMIM:618641
Central Core Disease
Nemaline bodies, Type 1 muscle fiber predominance, Multiple joint contractures, Myopathy, Mitral ... ORPHA:597
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Cap Myopathy
Increased variability in muscle fiber diameter, Sinus tachycardia, Lower limb muscle weakness, Mi... ORPHA:171881
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypoketoti... ORPHA:263455
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ragged-red muscle fibers, Myopathy OMIM:545000
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hypoglycemia, Ankle flexion contracture, Dilated cardiomyopathy, Rhabdomyolysis OMIM:618120
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Obesity And Hypopigmentation
Hepatic steatosis OMIM:620195
Sick Sinus Syndrome 1
Atrioventricular block, Absent P wave, Ventricular escape rhythm, Sinus bradycardia, Prolonged QT... OMIM:608567
Cardiac Arrhythmia, Ankyrin-B-Related
Sinus bradycardia, Syncope, Prolonged QT interval, Atrial fibrillation, Sudden cardiac death OMIM:600919
Atrial Septal Defect, Coronary Sinus Type
Exercise intolerance, Right ventricular failure, Bundle branch block, Presyncope, Transient ische... ORPHA:99104
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Insulin-resistant diabetes mellitus, Hypoglycemia, Hyperglycemia, Hyp... OMIM:262190
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Large for gestational age, Hyperinsulinemic hypoglycemia OMIM:256450
Muscular Dystrophy, Duchenne Type
Muscular dystrophy, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Abnormal EK... OMIM:310200
Kearns-Sayre Syndrome
Third degree atrioventricular block, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, H... OMIM:619013
3-Methylglutaconic Aciduria, Type V
Dilated cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Microvesic... OMIM:610198
Dystonia 23
Arrhythmia, Torticollis OMIM:614860
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:300438
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatty... OMIM:620246
Glycogen Storage Disease Due To Aldolase A Deficiency
Decreased muscle mass, Muscle fiber atrophy, Myalgia, Exercise-induced rhabdomyolysis, Skeletal m... ORPHA:57
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617066
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Weakness of fac... ORPHA:352447
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia ORPHA:35878
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy OMIM:520000
Typhoid
Epistaxis, Gastrointestinal hemorrhage, Myalgia, Arrhythmia, Arthralgia, Abdominal pain, Fatigue,... ORPHA:99745
Hypotonia-Cystinuria Syndrome
Cystinuria, Fatigue, Failure to thrive ORPHA:163690
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Hypoglycemia, Elevated circulating hepatic transaminase concentration, Atrial septal defect, Decr... OMIM:615160
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Increased connective tissue, ... OMIM:226670
Autosomal Dominant Progressive External Ophthalmoplegia
Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Quadriceps muscle weakness, Glucose i... ORPHA:254892
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Reduced left ventricular ejection fraction, Dilated cardiomyopathy, Congesti... OMIM:614672
Combined Oxidative Phosphorylation Deficiency 19
Elevated gamma-glutamyltransferase level, Elevated circulating aspartate aminotransferase concent... OMIM:615595
Hemochromatosis, Type 3
Fatigue, Cardiomyopathy OMIM:604250
Analbuminemia
Hypotension, Lipodystrophy, Fatigue OMIM:616000
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cholestatic liver disease, Hypoglycemia, Hypertrophic cardiomyopathy, Hypoketotic hypoglycemia, H... ORPHA:5
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Schnitzler Syndrome
Vasculitis, Lymphoma, Myalgia, Arthralgia, Fatigue, Bone pain ORPHA:37748
Desminopathy
Atrioventricular block, Congestive heart failure, Concentric hypertrophic cardiomyopathy, Weaknes... ORPHA:98909
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Failure to thrive, Congestive heart failure OMIM:615440
Developmental And Epileptic Encephalopathy 101
Limb joint contracture, Third degree atrioventricular block, Bradycardia OMIM:619814
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Portal fibrosis, Cardi... ORPHA:264580
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Hypoglycemia, Congestive heart failure, El... OMIM:620609
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Adult-Onset Distal Myopathy Due To Vcp Mutation
Rimmed vacuoles, Necrotizing myopathy, Myalgia, Facial diplegia, Foot dorsiflexor weakness, Back ... ORPHA:329478
Acyl-Coa Dehydrogenase 9 Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... ORPHA:99901
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Inguinal hernia, Joint contracture, Bradycardia OMIM:614498
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Hypoglycemia, El... OMIM:608836
Necrotizing Enterocolitis
Hypotension, Abnormal heart morphology, Hyperglycemia, Shock, Abnormal glucose homeostasis, Perit... ORPHA:391673
Combined Oxidative Phosphorylation Deficiency 20
Left ventricular noncompaction, Small for gestational age, Hypertrophic cardiomyopathy OMIM:615917
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Cardiomyopathy, Flexion contracture ORPHA:98896
Acth-Independent Macronodular Adrenal Hyperplasia 2
Hyperglycemia, Increased body weight, Fatigue, Abdominal obesity, Hypertension OMIM:615954
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Unclassified Myelodysplastic Syndrome
Myelodysplasia, Night sweats, Acute myeloid leukemia, Fatigue, Multiple lineage myelodysplasia ORPHA:98827
Congenital Disorder Of Glycosylation, Type Ik
Flexion contracture, Cardiomyopathy, Joint contracture OMIM:608540
Sarcosinemia
Hypertrophic cardiomyopathy, Peroneal muscle weakness, Hypersarcosinuria, Pulmonic stenosis ORPHA:3129
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Dilatation of the ventricular cavity, Rig... OMIM:609040
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Tall stature, Limb muscle weakness, ... OMIM:617258
Follicular Lymphoma
Night sweats, Weight loss, Fatigue, Lymphoma ORPHA:545
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Chest pain, Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle... OMIM:618920
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Hepatic failure, Glycosuria, Elevated circ... ORPHA:2088
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Chylomicron Retention Disease
Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, Hepatic steatosis, ... ORPHA:71
Hemochromatosis, Type 1
Cardiomyopathy, Congestive heart failure, Glucose intolerance, Cardiomegaly, Telangiectasia, Arrh... OMIM:235200
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Aminoaciduria, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia, EMG: myopathic ab... OMIM:609560
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatic fibrosis, Hepatic failure, Nodular regenerative hyperpl... OMIM:620454
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Acute rhabdomyolysis, Finger joint contracture, Hypoglycemia, Flexion contracture of toe ORPHA:48431
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Shoulder pain, Abnormality of the thenar eminence, Abnormal tendon m... ORPHA:85446
2P21 Microdeletion Syndrome
Cystinuria, Hypoglycemia ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 33
Exercise intolerance, Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Fatig... OMIM:617713
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Interstitial Lung And Liver Disease
Aminoaciduria, Elevated gamma-glutamyltransferase level, Hepatic failure, Hepatic fibrosis, Chole... OMIM:615486
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Obesity, Hypoketotic hypoglycemia, Exercise-induc... ORPHA:26793
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Abdominal pain OMIM:613662
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Essential Thrombocythemia
Acute leukemia, Erythromelalgia, Chest pain, Transient ischemic attack, Fatigue, Myelodysplasia, ... ORPHA:3318
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Acquired Methemoglobinemia
Palpitations, Arrhythmia, Abdominal pain, Syncope, Fatigue, Tachycardia ORPHA:464453
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Gracile Syndrome
Cholestasis, Cirrhosis, Hepatic steatosis, Elevated hepatic iron concentration ORPHA:53693
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Myopathy, Centronuclear, 5
Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regurgitation, Hip con... OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopathy OMIM:618992
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Fasting hyperins... ORPHA:71212
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Upper limb muscle weakness, Lower limb muscle weakness, Fatigue, Proximal amyotrophy, Calf muscle... ORPHA:209335
Mehmo Syndrome
Hypoglycemia OMIM:300148
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Chronic fatigue, Pulmonary arterial hypertension, Pulmonary capillary hemangiomatosis OMIM:234810
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Facial palsy OMIM:610542
Combined Oxidative Phosphorylation Deficiency 47
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoglycemia OMIM:618958
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
X-Linked Sideroblastic Anemia
Glucose intolerance, Fatigue ORPHA:75563
Hemochromatosis, Type 2A
Arrhythmia, Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure OMIM:602390
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Increased variability in muscle fiber diameter, Cardiomyopathy, Myopathy, Calf muscle hypertrophy... ORPHA:119
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hypoglycemia OMIM:306000
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Systolic heart murmur, Ao... ORPHA:3092
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Precordial pain, Cardiomyopathy, Coronary artery stenosis, Abnormality of the sh... ORPHA:565612
Congenital Heart Defects, Multiple Types, 5
Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi... OMIM:617912
Wilson Disease
Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Hepati... ORPHA:905
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Fatigue, Achilles tendon contracture OMIM:619719
Mitochondrial Trifunctional Protein Deficiency
Lower limb muscle weakness, Cardiomyopathy, Cholestasis, Tricuspid regurgitation, Hypoketotic hyp... ORPHA:746
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Sinus tachycardia, Congestive heart failure, Positive regitine bl... ORPHA:276621
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Mast Cell Sarcoma
Sarcoma, Weight loss, Fatigue ORPHA:66661
Refractory Anemia
Single lineage myelodysplasia, Abnormal cardiac ventricular function, Fatigue, Myelodysplasia ORPHA:98826
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Increased variability in muscle fiber diameter, Weakness of facial musculature, ... OMIM:619790
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
D-Glyceric Aciduria
Aminoaciduria, Hypoglycemia, Bradycardia OMIM:220120
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Cystinosis
Aminoaciduria, Type I diabetes mellitus, Failure to thrive, Portal hypertension, Myopathy, Fatigue ORPHA:213
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Tricuspid regurgitation, Type 1 muscle fiber pred... OMIM:620161
Carnitine-Acylcarnitine Translocase Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop... ORPHA:159
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized weakness of limb muscles, Type 1 muscle fiber predominance, Ragged-red muscle fibers,... ORPHA:353327
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Lower limb muscle weakness ORPHA:171612
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Prolonged neonatal jaundice, Macroglossia, Bradycardia, Umbilical hernia ORPHA:226313
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
Non-Acquired Isolated Growth Hormone Deficiency
Prolonged neonatal jaundice, Neonatal hypoglycemia, Decreased muscle mass ORPHA:631
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Secundum atrial septal defect, Cholestasis, Hepatic steatosis, Elevated circulat... OMIM:614300
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Glutamine Deficiency, Congenital
Camptodactyly, Flexion contracture, Bradycardia OMIM:610015
Symmetrical Thalamic Calcifications
Arrhythmia, Failure to thrive ORPHA:1314
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Secundum atrial septal de... OMIM:616866
Al Amyloidosis
Abnormal cardiac ventricle morphology, Gastrointestinal hemorrhage, Abnormal P wave, Postural hyp... ORPHA:85443
Liposarcoma
Abdominal pain, Sarcoma, Weight loss, Fatigue ORPHA:69078
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Insulin insensitivity, Palpitations, Type II diabetes mellitus, M... OMIM:602668
Juvenile Dermatomyositis
Vasculitis, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Myalgia, Myositis, ... ORPHA:93672
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Exercise intolerance, Ventricular bigeminy, Failure to thrive, Glucose intolerance, Limb muscle w... OMIM:610131
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Ca... OMIM:258450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Classic Hodgkin Lymphoma
Lymphoma, Chest pain, Neoplasm, Weight loss, Fatigue, Bone pain ORPHA:391
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Congestive heart failure, Abnormal T-wave, Obesity... ORPHA:70591
Mitochondrial Trifunctional Protein Deficiency 2
Hypotension, Dilated cardiomyopathy, Hypoglycemia, Tricuspid regurgitation, Elevated circulating ... OMIM:620300
Cirrhotic Cardiomyopathy
Exercise intolerance, Postexertional symptom exacerbation, Congestive heart failure, Asthenia, El... ORPHA:57777
Familial Thyroid Dyshormonogenesis
Prolonged neonatal jaundice, Macroglossia, Bradycardia, Umbilical hernia ORPHA:95716
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Acute hepatic failure, Microvesicular he... OMIM:613070
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Spontaneous Periodic Hypothermia
Arrhythmia, Fatigue ORPHA:29822
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Combined Oxidative Phosphorylation Deficiency 38
Hypertrophic cardiomyopathy, Failure to thrive, Wolff-Parkinson-White syndrome OMIM:618378
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight, Fatigue ORPHA:589905
Cardiomyopathy, Familial Hypertrophic, 2
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Ventricular septal hyper... OMIM:115195
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatic steatosis, Fasting... ORPHA:348
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Cardiomyopathy,... ORPHA:26791
Combined Malonic And Methylmalonic Acidemia
Elevated circulating hepatic transaminase concentration, Hypoglycemia ORPHA:289504
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Limb hypertonia, Congenital foot contractures, Bradycardia ORPHA:565624
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Multiple lipomas, Lipody... OMIM:151800
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Arrhythmia, Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Athyreosis
Macroglossia, Fatigue ORPHA:95713
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Increased intramyocellular lipid droplets, Adrenocortical adenoma, Ab... ORPHA:681
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Abnormal heart valve morphology, Tricuspid regurgitation, Atrophic scars, M... ORPHA:230851
Polyarteritis Nodosa
Cardiomyopathy, Myalgia, Weight loss, Arthralgia, Raynaud phenomenon, Abdominal pain, Hypertensio... ORPHA:767
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Myopathy ORPHA:1369
Malonyl-Coa Decarboxylase Deficiency
Left ventricular noncompaction cardiomyopathy, Dilated cardiomyopathy, Hypoglycemia OMIM:248360
Propionic Acidemia
Hyperglycinuria, Hypoglycemia, Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Limb hyperton... OMIM:606054
Rheumatoid Arthritis
Digital flexor tenosynovitis, Vasculitis, Weight loss, Fatigue, Arthralgia OMIM:180300
Babesiosis
Congestive heart failure, Myalgia, Arthralgia, Fatigue, Myocardial infarction ORPHA:108
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated gamma-glutamyltransferase level, Intrahepatic cholestasis, Hepatic fibrosis, Decreased l... OMIM:617093
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Carney Triad
Gastrointestinal hemorrhage, Adrenocortical adenoma, Pheochromocytoma, Arrhythmia, Leiomyosarcoma... ORPHA:139411
Illum Syndrome
Arthrogryposis multiplex congenita, Calcinosis, Bradycardia OMIM:208155
Whipple Disease
Insulin resistance, Gastrointestinal hemorrhage, Hypotension, Chest pain, Myalgia, Myositis, Cach... ORPHA:3452
King-Denborough Syndrome
Centrally nucleated skeletal muscle fibers, Minicore myopathy, Failure to thrive, Muscle fiber at... OMIM:619542
Donohue Syndrome
Postprandial hyperglycemia, Hepatic fibrosis, Skeletal muscle atrophy, Cholestasis, Hyperglycemia... OMIM:246200
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Congestive heart... ORPHA:52430
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Exercise intolerance, Skeletal muscle atrophy, Recurrent hypoglycemia, Myalgia, Rhabdomyolysis, I... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Neutral Lipid Storage Myopathy
Rimmed vacuoles, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hand mu... ORPHA:98908
Ullrich Congenital Muscular Dystrophy 1A
Increased variability in muscle fiber diameter, Muscular dystrophy, Failure to thrive, Slender bu... OMIM:254090
Obesity Due To Sim1 Deficiency
Hypotension, Postural hypotension with compensatory tachycardia, Obesity, Glucose intolerance, Hy... ORPHA:369873
Papa Syndrome
Myositis, Type I diabetes mellitus, Arthralgia, Fatigue ORPHA:69126
Congenital Disorder Of Glycosylation, Type Im
Hypoketotic hypoglycemia, Dilated cardiomyopathy, Bradycardia OMIM:610768
Legionnaires Disease
Cellulitis, Hypotension, Chest pain, Myalgia, Arrhythmia, Arthralgia, Fatigue, Myocarditis, Abdom... ORPHA:549
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Retinal capillary hemangioma, Sinus tachycardia, Congestive heart... ORPHA:29072
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Myalgia, Pain, Arthralgia, Fatigue ORPHA:2942
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Reduced left ventricular ejection fraction, Elevated circulating creatinine concentr... ORPHA:542323
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hypoglycemia, Hepatocellular ne... OMIM:256810
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Relapsing Fever
Epistaxis, Hypotension, Elevated circulating creatinine concentration, Myalgia, Abdominal pain, A... ORPHA:91547
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Congenital Isolated Acth Deficiency
Hypotension, Hypoglycemic seizures, Hepatitis, Prolonged neonatal jaundice, Neonatal hypoglycemia ORPHA:199296
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Pancreatitis, Hypoglycemia OMIM:620137
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Cardiomyopathy, Hypertrophic cardiomyopat... OMIM:300280
Mitochondrial Complex I Deficiency, Nuclear Type 14
Hypertrophic cardiomyopathy, Biventricular hypertrophy, Myopathy OMIM:618236
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue, Hypomimic face OMIM:618049
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Hepatic steatosis ORPHA:300536
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Muscular dystrophy, Increased endomysial connective tissue, Flexion contracture OMIM:607855
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Arrhythmia, Truncal obesity, Camptodactyly of finger ORPHA:2928
Pseudo-Torch Syndrome 2
Elevated circulating hepatic transaminase concentration, Secundum atrial septal defect, Bradycard... OMIM:617397
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Umbilical hernia, Abnormal heart morphology, Hyperglycemia, Inguin... OMIM:175700
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Tricuspid regur... OMIM:613426
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Multiple lipomas, Fatigue, Abdominal pain, Bone... ORPHA:1414
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Congestive heart... OMIM:609015
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Hypertrophic cardiomyopathy, Left ventricular noncompaction, Reduced left v... OMIM:616501
Hepatitis Delta
Malaise, Abdominal pain, Fatigue, Hepatocellular carcinoma ORPHA:402823
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Hypoglycemia ORPHA:2158
Cronkhite-Canada Syndrome
Gastrointestinal carcinoma, Stomach cancer, Intestinal polyposis, Neoplasm, Cachexia, Fatigue, Ab... ORPHA:2930
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Myalgia, Ragged-red muscle fibers OMIM:619024
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hypotension, Lymphoma, Chronic myelomonocytic leukemia, Myelodysplasia, Myalgia, Chronic lymphati... ORPHA:98849
Aggressive Systemic Mastocytosis
Hypotension, Gastrointestinal hemorrhage, Portal hypertension, Weight loss, Hematological neoplas... ORPHA:98850
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Failure to thrive OMIM:618229
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Hypoglycemia, Congestive ... ORPHA:137675
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hypertrophic cardiomyopath... OMIM:616878
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizu... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Obesity, Hyperinsulinemia, Childhood-onset truncal obesity, Hypoglycemic seizu... ORPHA:71526
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Cerebral ischemia, Pain, Rhabdomyolysis, Muscle fiber ... ORPHA:449285
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Myalgia, Myopathy, Weakness of facial musculature, Fatigue, Scapular win... ORPHA:98673
Hepatitis, Fulminant Viral, Susceptibility To
Type I diabetes mellitus, Fatigue OMIM:618549
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Hepatic steatosis, Mitral valve prolapse, Reduced cystathionine beta-synthase act... OMIM:236200
Aromatic L-Amino Acid Decarboxylase Deficiency
Hypoglycemia, Hypotension, Limb hypertonia, Joint contracture ORPHA:35708
Kaposi Sarcoma
Neoplasm of the skin, Hemangioma, Weight loss, Neoplasm by anatomical site, Fatigue, Lymphoprolif... ORPHA:33276
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Skeletal muscle atrophy, Inguinal hernia, Bradycardia OMIM:619272
Seckel Syndrome 10
Insulin resistance, Ventricular hypertrophy, Glycosuria, Congestive heart failure, Elevated circu... OMIM:617253
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Cardiomyopathy, Myopathy OMIM:616549
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, P... ORPHA:1686
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Hypoglycemia, Abnormal EKG, Elevated circulating creatin... ORPHA:230
Pfapa Syndrome
Arthralgia, Abdominal pain, Weight loss, Fatigue ORPHA:42642
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Quadriceps muscle weakness, Elbow flexion contracture, Facial diplegia, ... ORPHA:70
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Premature atrial contractions, Palpitations, Permanent atrial fib... OMIM:611493
Bethlem Muscular Dystrophy
Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Cigarette-paper scars, Quadriceps... ORPHA:610
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Chronic lymphatic leukemia, Arthralgia, Fatigue, Tachycardia, Lymphopro... ORPHA:90033
Subaortic Stenosis-Short Stature Syndrome
Obesity, Type II diabetes mellitus, Inguinal hernia, Arrhythmia, Subvalvular aortic stenosis, Mem... ORPHA:3191
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardiomyopathy, ... ORPHA:98907
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Cardiomyopathy, Familial Restrictive, 3
Hypotension, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Left axis de... OMIM:612422
Muscular Dystrophy, Congenital, Megaconial Type
Muscular dystrophy, Dilated cardiomyopathy, Increased endomysial connective tissue, Myopathy, Fac... OMIM:602541
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent fetal circulat... OMIM:618775
Interatrial Communication
Right ventricular dilatation, Secundum atrial septal defect, Atrial flutter, Congestive heart fai... ORPHA:1478
Long Qt Syndrome 14
Sudden death, T-wave alternans, 2:1 atrioventricular block, Prolonged QT interval, Ventricular fi... OMIM:616247
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Elevated circulating hepatic transaminase concentration, Glycosuria, Hypoglycemia,... OMIM:616026
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Increased muscle lipid content, Ragged-red muscle fibers, Myopathy, Macroglossia, Increased muscl... ORPHA:254864
Lipodystrophy, Congenital Generalized, Type 1
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Umbilical hernia, Genera... OMIM:608594
Immunodeficiency, Common Variable, 11
Fatigue, Failure to thrive OMIM:615767
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Arthralgia, Fatigue, Lymphoma ORPHA:90036
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ragged-red muscle fibers, Myopathy OMIM:618242
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy, Failure to th... OMIM:618228
Mody
Abnormal oral glucose tolerance, Pancreatic hypoplasia, Insulin-resistant diabetes mellitus, Glyc... ORPHA:552
Kearns-Sayre Syndrome
Third degree atrioventricular block, Cardiomyopathy, Ragged-red muscle fibers, Arrhythmia, Diabet... OMIM:530000
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgitation, Telangiectasia of the skin, Lipodys... OMIM:212112
Familial Isolated Restrictive Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia OMIM:229700
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Chronic pancreatitis, He... OMIM:610717
Erythrocytosis, Familial, 2
Hypotension, Failure to thrive, Hemangioma, Pulmonary arterial hypertension, Fatigue, Cerebral he... OMIM:263400
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Abnormality of conn... ORPHA:206572
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Elevated pulmonary artery pressure, Chest pain, P... ORPHA:99094
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Nipah Virus Disease
Hypotension, Myalgia, Fatigue ORPHA:99825
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Congestive heart failure, Myalgia, Limb muscle weakness, Cardiomegaly, Fatigue OMIM:619259
Jervell And Lange-Nielsen Syndrome
Postexertional symptom exacerbation, Torsade de pointes, Arrhythmia, Syncope, Ventricular fibrill... ORPHA:90647
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Exercise intolerance, Skeletal muscle atrophy, Lower limb muscle weakness, Myalgia, Ragged-red mu... OMIM:616479
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Exercise-induced myalgia, Ragged-red muscle fibers, Rhabdomyolysis, Weakness of facial musculature OMIM:618416
Pituitary Gigantism
Pituitary prolactin cell adenoma, Hypertrophic cardiomyopathy, Tall stature, Pituitary growth hor... ORPHA:99725
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Elevated circulating aspartate aminotransferase concentration, Skeletal muscle atrophy, Elevated ... OMIM:245400
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glycosuria, Hypoglycemia, Hepatic periportal necrosis, Hepatic steatos... OMIM:231680
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Restrictive cardiomyopathy, Mitral regurgitation, Patent foramen ovale, Inclusion body fibromatos... ORPHA:88630
Ataxia With Vitamin E Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Skeletal muscle atrophy, Diabetes mellitus ORPHA:96
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Hypertension, Cardiomyopathy ORPHA:3222
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Muscular ventricular septal defect, Tricuspid regurgit... OMIM:619371
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Arteritis, Abnormal pericardium morphology, Chest pain, Ischemic str... ORPHA:679
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Autoinflammation With Infantile Enterocolitis
Diffuse alveolar hemorrhage, Failure to thrive, Myalgia, Arthralgia, Fatigue OMIM:616050
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Conotruncal defect, Third degree atrioventricular block, Bradycardia ORPHA:40366
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Pain ORPHA:477774
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Monoclonal immunoglobulin M proteinemia, Congestive hear... ORPHA:91139
Dk1-Cdg
Dilated cardiomyopathy, Failure to thrive, Cardiomyocyte hypertrophy, Congestive heart failure, I... ORPHA:91131
Houge-Janssens Syndrome 1
Facial hypotonia, Fatigue, Hypoglycemia, Congenital muscular torticollis OMIM:616355
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Poliomyelitis
Hypovolemic shock, Hypoplasia of the musculature, Hypotension, Skeletal muscle atrophy, Upper lim... ORPHA:2912
Familial Glucocorticoid Deficiency
Leydig cell neoplasia, Hypotension, Failure to thrive, Hypertrophic cardiomyopathy, Tall stature,... ORPHA:361
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Cerebral ischemia, Fatigue, Failure to thrive, Myelodysplasia ORPHA:927
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Homocystinuria, Hypotension, Decreased methylmalonyl-CoA mutase activity, Cystathioninuria, Pulmo... OMIM:277400
Von Hippel-Lindau Disease
Arrhythmia, Pancreatic islet cell adenoma, Abdominal pain, Limb pain, Palpitations, Distal lower ... ORPHA:892
Refractory Anemia With Excess Blasts
Palpitations, Single lineage myelodysplasia, Acute myeloid leukemia, Fatigue, Retinal hemorrhage,... ORPHA:86839
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, Myelodysplasia, Fatigue ORPHA:231401
Polyvalvular Heart Disease Syndrome
Aortic valve stenosis, Sudden death, Abnormal heart valve morphology, Tricuspid regurgitation, Mi... ORPHA:228410
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Lyme Disease
Atrioventricular block, Myalgia, Arrhythmia, Arthralgia, Fatigue ORPHA:91546
Becker Muscular Dystrophy
Exercise intolerance, Myalgia, Skeletal muscle atrophy, Fatigue ORPHA:98895
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Tall stature, Large for gestational age OMIM:617757
Lipodystrophy, Congenital Generalized, Type 2
Elevated circulating hepatic transaminase concentration, Umbilical hernia, Hypertrophic cardiomyo... OMIM:269700
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Limb hypertonia, Generalized amyotrophy OMIM:617710
Coenzyme Q10 Deficiency, Primary, 1
Hypertrophic cardiomyopathy, Decreased level of coenzyme Q10 in skeletal muscle, Fatigue, Ragged-... OMIM:607426
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Citrullinemia Type Ii
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hyperlipidemia, Hepati... ORPHA:247585
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Erythromelalgia, Budd... ORPHA:729
X-Linked Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, ... ORPHA:596
Thymic Carcinoma
Neoplasm of the thymus, Chest pain, Weight loss, Fatigue ORPHA:99868
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Postorgasmic Illness Syndrome
Palpitations, Hypertension, Fatigue ORPHA:279947
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Failure to thrive, Palpitations, Rhabdomyolysis, Ventricular tach... OMIM:263800
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Cardiomyopathy, Pituitary growth hormone cel... OMIM:102200
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketotic hypoglycemia, Elevated circulating hepatic transaminase conce... ORPHA:2089
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Classic Galactosemia
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Hepatomeg... ORPHA:79239
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Thyroid Hemiagenesis
Thyroid adenoma, Follicular thyroid carcinoma, Umbilical hernia, Medullary thyroid carcinoma, Fat... ORPHA:95719
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Tetanus
Tachycardia, Hypertension, Bradycardia ORPHA:3299
Giant Cell Arteritis
Vasculitis, Epistaxis, Double outlet right ventricle with subpulmonary ventricular septal defect ... ORPHA:397
Isolated Agammaglobulinemia
Cellulitis, Fatigue, Failure to thrive ORPHA:229717
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Congestiv... OMIM:617156
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower l... ORPHA:803
Infantile Refsum Disease
Arrhythmia, Facial palsy, Failure to thrive, Cardiomyopathy ORPHA:772
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body weight, Macroglossia, Omphalocele, Increased body mass index OMIM:614450
Primary Hepatic Neuroendocrine Carcinoma
Right ventricular failure, Neuroendocrine neoplasm, Palpitations, Facial telangiectasia, Chronic ... ORPHA:100085
Cardiomyopathy, Dilated, 2J
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Secundum atrial sept... OMIM:620635
Idiopathic Pulmonary Hemosiderosis
Diffuse alveolar hemorrhage, Failure to thrive, Cardiomegaly, Fatigue, Heart murmur ORPHA:99931
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Abnormal heart valve morphology, Facial diplegia, Typ... ORPHA:169186
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decr... OMIM:124000
Alexander Disease
Fatigue OMIM:203450
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Splenomegaly, Sclerosing cholangitis, Di... ORPHA:2137
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Arthrogryposis multiplex congenita, Flexion contracture, Increased endomysial ... ORPHA:178148
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Cir... OMIM:617049
Hypotonia-Cystinuria Syndrome
Cystinuria, Facial palsy, Neonatal hypoglycemia, Ragged-red muscle fibers OMIM:606407
Poems Syndrome
Pain, Hemangioma, Pulmonary arterial hypertension, Weight loss, Lipodystrophy, Fatigue, Pericardi... ORPHA:2905
Combined Oxidative Phosphorylation Deficiency 42
Hypoglycemia, Decreased liver function, Cardiomyopathy OMIM:618839
Spastic Paraplegia Type 7
Upper limb muscle weakness, Lower limb muscle weakness, Lower limb pain, Ragged-red muscle fibers... ORPHA:99013
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Abnormal EKG, Arrhythmia, ... ORPHA:480864
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Fatigue, Congestive heart failure ORPHA:90037
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Weight loss, Fatigue, Intracranial hemorrhage, Myeloproliferative disorder ORPHA:3226
Combined Oxidative Phosphorylation Defect Type 23
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left v... ORPHA:444013
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Hypoglycemia, Decreased liver function OMIM:618835
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Nemaline bodies, Hypoglycemia, Elbow contracture, Umbilical hernia, Inguinal hernia OMIM:620275
Primary Myelofibrosis
Portal hypertension, Hemangioma, Cachexia, Hematological neoplasm, Constitutional symptom, Flank ... ORPHA:824
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Umbilical hernia, Abnormal heart morphology, Large for gestational age, Diastasis recti, Ventricu... ORPHA:254534
Ehlers-Danlos Syndrome, Classic-Like, 1
Atrophic scars, Quadricuspid aortic valve, Mitral valve prolapse, Increased connective tissue, Hi... OMIM:606408
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Cardiomyopathy, Hyperlipidemia, Hepatic steatosis, Hepatic calcification, Cardio... ORPHA:228308
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Cyclic Vomiting Syndrome
Abdominal pain, Exercise intolerance, Cardiomyopathy OMIM:500007
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Centr... ORPHA:401768
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Neonatal hypoglycemia, Splenomegaly, Cardiomyopathy OMIM:619046
Acth Deficiency, Isolated
Cholestasis, Jaundice, Fasting hypoglycemia OMIM:201400
Acute Interstitial Pneumonia
Elevated circulating creatinine concentration, Chest pain, Myalgia, Arthralgia, Fatigue, Pericard... ORPHA:79126
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement... ORPHA:1330
Erythrocytosis, Familial, 1
Fatigue, Hypertension, Myocardial infarction, Cerebral hemorrhage OMIM:133100
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Scapular winging, Flexion contracture, Facial palsy, ... OMIM:255200
Benign Samaritan Congenital Myopathy
Centrally nucleated skeletal muscle fibers, Internally nucleated skeletal muscle fibers ORPHA:324581
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Benign Recurrent Intrahepatic Cholestasis
Abdominal pain, Weight loss, Fatigue, Hepatocellular carcinoma ORPHA:65682
Noonan Syndrome 8
Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, Mitral regurgitation, ... OMIM:615355
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Flexion contracture, Fatigue, Failure to thrive ORPHA:98791
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Dilated Cardiomyopathy With Ataxia
Diaphragmatic eventration, Dilated cardiomyopathy, Elevated circulating hepatic transaminase conc... ORPHA:66634
Thyrotoxic Periodic Paralysis
Postprandial hyperglycemia, Second degree atrioventricular block, Lower limb muscle weakness, Obe... ORPHA:79102
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Cardiomegaly, Arrhythmia OMIM:266500
Galactokinase Deficiency
Hepatomegaly, Hepatosplenomegaly, Hypoglycemia, Hyperinsulinemia ORPHA:79237
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Congenital Sucrase-Isomaltase Deficiency
Abdominal colic, Failure to thrive, Fatigue, Abdominal pain, Bowel incontinence ORPHA:35122
Hurler-Scheie Syndrome
Abnormal heart valve morphology, Hernia, Cardiomyopathy ORPHA:93476
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Hypoglycemia, Exocrine pancreatic insuf... OMIM:619418
Familial Cutaneous Collagenoma
Angina pectoris, Atrial septal defect, Cardiomyopathy, Congestive heart failure ORPHA:53296
Combined Oxidative Phosphorylation Deficiency 39
Type I diabetes mellitus, Congenital contracture, Sinus bradycardia, Joint contracture, Flexion c... OMIM:618397
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue ORPHA:314632
Lethal Congenital Contracture Syndrome 5
Centrally nucleated skeletal muscle fibers, Congenital contracture, Subdural hemorrhage, Retinal ... OMIM:615368
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Mitochondrial Complex I Deficiency, Nuclear Type 35
Pulmonary arterial hypertension, Cardiomyopathy OMIM:619003
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Exercise intolerance, Failure to thrive, Lower limb muscle weakness, Hypertrophic car... ORPHA:365
Combined Oxidative Phosphorylation Deficiency 37
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:618329
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Dorsocervical fat pad, Diabetes mellitus, Hypoglycemia ORPHA:391408
Autosomal Agammaglobulinemia
Cellulitis, Verrucae, Fatigue, Failure to thrive ORPHA:33110
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Congenital Analbuminemia
Obesity, Lipodystrophy, Fatigue, Small for gestational age, Low pulse pressure ORPHA:86816
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Fatigue, Portal hypertension, Hepatocellular carcinoma OMIM:619463
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Hypertrophic cardiomyopathy, Congestive heart failure, Abnormal pulmonar... ORPHA:1194
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hypoglycemia, Cardiomyopathy, Cerebellar hemorrhage, Pancreatitis, Hepatomegaly OMIM:251000
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... ORPHA:247598
Fabry Disease
Atrioventricular block, Congestive heart failure, Hypertrophic cardiomyopathy, Bundle branch bloc... ORPHA:324
X-Linked Agammaglobulinemia
Cellulitis, Failure to thrive, Neoplasm, Weight loss, Fatigue ORPHA:47
Methylmalonic Aciduria, Cblb Type
Hepatomegaly, Dilated cardiomyopathy, Decreased methylmalonyl-CoA mutase activity, Hypoglycemia OMIM:251110
Evans Syndrome
Epistaxis, Syncope, Fatigue ORPHA:1959
Cog8-Cdg
Elevated circulating hepatic transaminase concentration, Skeletal muscle atrophy, Hypoglycemia ORPHA:95428
Dpm1-Cdg
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, He... ORPHA:79322
Adiposis Dolorosa
Arthralgia, Obesity, Telangiectasia of the skin, Fatigue ORPHA:36397
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Focal pancreatic islet hyperplasia,... ORPHA:79644
Primary Familial Polycythemia
Epistaxis, Abdominal pain, Arthralgia, Fatigue ORPHA:90042
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal T-wave, Abnormal left ventricle morphology, Arrhythmia, Abnorm... ORPHA:1055
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cardiomegaly, Hypoglycemia ORPHA:391428
Combined Oxidative Phosphorylation Deficiency 11
Hepatomegaly, Cardiomyopathy, Hepatic steatosis, Decreased liver function OMIM:614922
Familial Cold Urticaria
Arthralgia, Abdominal pain, Myalgia, Fatigue ORPHA:47045
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Skeletal muscle autophagosome accumulation, Failure t... OMIM:619518
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Congestive heart failure, Chest pain, Myalgia, Myopathy, Arrhythmia, Fle... ORPHA:682
Post-Traumatic Pituitary Deficiency
Hypotension, Fatigue, Hypoglycemia ORPHA:95619
Autoerythrocyte Sensitization Syndrome
Epistaxis, Gastrointestinal hemorrhage, Asthenia, Epigastric pain, Myalgia, Intracranial hemorrha... ORPHA:324636
Combined Oxidative Phosphorylation Deficiency 59
Cholelithiasis, Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left vent... OMIM:620646
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Bacterial endo... ORPHA:97214
Cardiomyopathy, Familial Restrictive, 6
Tricuspid regurgitation, Pulmonary insufficiency, Restrictive cardiomyopathy, Pulmonic stenosis OMIM:619433
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Ventricular septal defect, Bradycardia, Retinal hemorrhage, Tachycardia, Flexio... OMIM:614653
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Dermatomyositis
Cellulitis, Lung adenocarcinoma, Arrhythmia, Weight loss, Arthralgia, Vasculitis, Myalgia, Myosit... ORPHA:221
Blue Diaper Syndrome
Increased proinsulin:insulin ratio, Elevated circulating hepatic transaminase concentration, Recu... ORPHA:94086
Parathyroid Carcinoma
Chondrocalcinosis, Renal hamartoma, Shortened QT interval, Parathyroid carcinoma, Pancreatic aden... ORPHA:143
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture, Failure to thrive OMIM:620240
Glucocorticoid Resistance, Generalized
Fatigue, Hypertension, Hypoglycemia OMIM:615962
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Immunodeficiency 10
Hypoglycemia, Splenomegaly, Myopathy, Amelogenesis imperfecta, Hepatomegaly OMIM:612783
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue OMIM:614831
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Failure to ... OMIM:248800
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Myalgia, Arrhythmia, Myocarditis, Abdominal pain ORPHA:3386
Immunodeficiency 40
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Macrovesicular hepat... OMIM:616433
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Abdominal pain, Arrhythmia, Myocardial infarction ORPHA:54057
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Obesity ORPHA:88643
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:541423
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Fatigue, Myopathy OMIM:613077
Arterial Tortuosity Syndrome
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Inguinal hernia, H... ORPHA:3342
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small in... ORPHA:44890
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Dilated cardiomyopathy, Type II diabetes mellitus, Renovascular hypertensio... ORPHA:401923
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Ileal Neuroendocrine Tumor
Hypotension, Cardiogenic shock, Right ventricular failure, Arterial occlusion, Palpitations, Chro... ORPHA:100078
Sepsis In Premature Infants
Hypotension, Decreased liver function, Splenomegaly, Bradycardia, Hepatomegaly, Jaundice, Tachyca... ORPHA:90051
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Exercise intolerance, Fatigue ORPHA:2032
Noonan Syndrome 11
Hypertrophic cardiomyopathy, Atrial septal defect, Pulmonic stenosis OMIM:618499
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Hypoglycemia OMIM:618838
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypoglycemia, Congestiv... OMIM:619355
Hyperprolinemia Type 2
Exercise intolerance, Prolinuria, Hydroxyprolinuria, Myalgia, Abdominal pain, Chronic fatigue ORPHA:79101
Glycogen Storage Disease Ia
Elevated circulating hepatic transaminase concentration, Decreased muscle mass, Hypoglycemia, Pan... OMIM:232200
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Bone pain OMIM:610539
Congenital Fiber-Type Disproportion Myopathy
Cor pulmonale, Ankle flexion contracture, Hypoplasia of the musculature, Failure to thrive, Shoul... ORPHA:2020
Adult-Onset Still Disease
Asthenia, Pharyngalgia, Myalgia, Arthralgia, Weight loss, Fatigue, Arthralgia/arthritis, Myocardi... ORPHA:829
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Abdominal pain, Failure to thrive, Cardiomyopathy ORPHA:79312
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Scapular muscle atrophy, Amyoplasia... OMIM:181405
Pancreatic And Cerebellar Agenesis
Secundum atrial septal defect, Pancreatic hypoplasia, Hypoglycemia, Hyperglycemia, Reduced subcut... OMIM:609069
Congenital Muscular Dystrophy With Cerebellar Involvement
Muscular dystrophy, Cardiomyopathy, Reduced muscle fiber alpha dystroglycan, Hypoglycosylation of... ORPHA:370959
Hydrops Fetalis
Abnormal heart morphology, Neoplasm, Arrhythmia, Pericardial effusion, Small for gestational age,... ORPHA:1041
Smith-Kingsmore Syndrome
Diastasis recti, Hypoglycemia, Umbilical hernia OMIM:616638
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Satoyoshi Syndrome
Fatigue, Skeletal muscle hypertrophy OMIM:600705
Heart Block, Congenital
Atrioventricular block, Cardiomyopathy, Absent atrioventricular node, Mitral regurgitation, Atria... OMIM:234700
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Obesity, Mitral regurgitation, Pulmonary arterial hypertension, Overweight OMIM:614651
Hypothyroidism Due To Tsh Receptor Mutations
Prolonged neonatal jaundice, Macroglossia, Bradycardia, Umbilical hernia ORPHA:90673
Melas
Type I diabetes mellitus, Dilated cardiomyopathy, Exercise intolerance, Failure to thrive, Cardio... ORPHA:550
Body Mass Index Quantitative Trait Locus 20
Tall stature, Obesity, Hyperinsulinemia OMIM:618406
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Chills, Weight loss, Fatigue, Panniculitis ORPHA:86884
Aicardi-Goutieres Syndrome 9
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Pe... OMIM:619487
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Abnormal dental enamel morphology, Fatigue, Myopathy ORPHA:257
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
19P13.12 Microdeletion Syndrome
Atrial septal defect, Hyperlipidemia, Hepatic steatosis, Ventricular septal defect ORPHA:254346
Congenital Disorder Of Glycosylation, Type Iie
Secundum atrial septal defect, Skeletal muscle atrophy, Decreased liver function, Hypoglycemia, C... OMIM:608779
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, Inguinal hernia, EMG: myopathic abnormalities OMIM:620326
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscular dystrophy, Cardiomyopathy, Absent muscle fiber merosin, Reduced left ventricular ejectio... ORPHA:258
Alveolar Echinococcosis
Abnormal pericardium morphology, Budd-Chiari syndrome, Asthenia, Abnormal skeletal muscle morphol... ORPHA:284
Steinert Myotonic Dystrophy
Neoplasm of the skin, Hyperinsulinemia, Choroidal melanoma, Brain neoplasm, Pelvic girdle muscle ... ORPHA:273
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Proximal muscle weakness ... ORPHA:466768
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Polyendocrine-Polyneuropathy Syndrome
Proximal muscle weakness in lower limbs, Hypoinsulinemia, Type II diabetes mellitus, Hypoglycemia ORPHA:453533
Familial Cold Autoinflammatory Syndrome 1
Arthralgia, Myalgia, Fatigue, Chills OMIM:120100
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Elevated circulating hepatic transaminase concentration, Hy... OMIM:615453
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Decreased liver function, Hypertrophic cardiomyopathy, Hepatomegaly, Diffuse hepat... ORPHA:436271
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated circulating hepatic transaminase concentration, Insulin-resistant diabetes mellitus, Hep... ORPHA:2959
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Increased variability in muscle fiber diameter, Ankle flexion contracture, Failure to thrive, Elb... OMIM:619461
Alg3-Cdg
Macroglossia, Lipodystrophy, Arthrogryposis multiplex congenita, Cardiomyopathy ORPHA:79321
3-Hydroxy-3-Methylglutaric Aciduria
Hypotension, Dilated cardiomyopathy, Recurrent hypoglycemia, Weight loss, Nonketotic hypoglycemia... ORPHA:20
Oculopharyngodistal Myopathy 1
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Dilated cardi... OMIM:164310
Avian Influenza
Congestive heart failure, Chest pain, Myalgia, Rhabdomyolysis, Fatigue, Abdominal pain ORPHA:454836
Corticosteroid-Binding Globulin Deficiency
Asthenia, Hypotension, Fatigue, Hypertension OMIM:611489
Temple Syndrome
Type II diabetes mellitus, Recurrent hypoglycemia ORPHA:254516
Familial Chylomicronemia Syndrome
Hepatosplenomegaly, Hyperlipidemia, Hepatic steatosis, Recurrent pancreatitis, Hypertriglyceridem... ORPHA:444490
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Intrahepatic cholestasis, Generalized aminoaciduria, Glycosuria, Elev... OMIM:227810
Leishmaniasis
Arthralgia, Night sweats, Weight loss, Fatigue ORPHA:507
Late-Onset Isolated Acth Deficiency
Type I diabetes mellitus, Hypotension, Pituitary adenoma, Failure to thrive, Hypoglycemia, Weight... ORPHA:199299
Generalized Pustular Psoriasis
Congestive heart failure, Obesity, Pain, Arthralgia, Fatigue, Overweight ORPHA:247353
Hyperparathyroidism-Jaw Tumor Syndrome
Chondrocalcinosis, Renal hamartoma, Shortened QT interval, Pancreatic adenocarcinoma, Bone pain, ... ORPHA:99880
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Exerc... OMIM:607459
3-Methylglutaconic Aciduria Type 7
Elevated circulating hepatic transaminase concentration, Neonatal hypoglycemia, Hepatic steatosis... ORPHA:445038
Hepatic Veno-Occlusive Disease
Increased body weight, Abdominal pain ORPHA:890
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Laron Syndrome
Hypoglycemia ORPHA:633
Atypical Juvenile Parkinsonism
Fatigue, Leg muscle stiffness, Hypomimic face ORPHA:391411
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypoch... OMIM:212065
Spinocerebellar Ataxia 28
Ragged-red muscle fibers, Lower limb hypertonia OMIM:610246
Cryptogenic Organizing Pneumonia
Chest pain, Night sweats, Arthralgia, Weight loss, Fatigue ORPHA:1302
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Chest pain, Myalgia, Myositis, Pulmonary arterial hypertension, Arth... ORPHA:809
Crimean-Congo Hemorrhagic Fever
Retinal hemorrhage, Hepatomegaly, Jaundice, Tachycardia, Diffuse alveolar hemorrhage, Bundle bran... ORPHA:99827
Short Qt Syndrome 1
Shortened QT interval, Paroxysmal atrial fibrillation, Palpitations, Syncope, Cardiac arrest, Sud... OMIM:609620
Neuraminidase Deficiency
Cardiomegaly, Skeletal muscle atrophy, Inguinal hernia, Cardiomyopathy OMIM:256550
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Myofiber disarray, M... OMIM:604377
Tyrosinemia, Type I
Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr... OMIM:276700
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Elevated circulating hepatic transaminase concentration, Pulmon... ORPHA:94093
Hermansky-Pudlak Syndrome
Epistaxis, Gastrointestinal hemorrhage, Cardiomyopathy, Abnormal dental enamel morphology, Squamo... ORPHA:79430
Marburg Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Subconjunctival hemorrhage,... ORPHA:99826
Hennekam-Beemer Syndrome
Hypotension, Failure to thrive, Camptodactyly of finger, Arrhythmia, Telangiectasia of the skin, ... ORPHA:2135
Familial Pancreatic Carcinoma
Colon cancer, Pancreatic adenocarcinoma, Chronic fatigue, Ovarian carcinoma, Melanoma, Neoplasm o... ORPHA:1333
Cardiofaciocutaneous Syndrome 3
Failure to thrive, Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, ... OMIM:615279
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Lujo Hemorrhagic Fever
Hypotension, Elevated circulating hepatic transaminase concentration, Shock, Bradycardia, Myocard... ORPHA:319213
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Exercise intolerance, Congestive heart failur... ORPHA:363705
Mitochondrial Neurogastrointestinal Encephalomyopathy
Cirrhosis, Macrovesicular hepatic steatosis, Elevated circulating hepatic transaminase concentration ORPHA:298
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Obesity, Encopresis, Decreased body weight, First degree atrioventricular bl... ORPHA:589821
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Tricuspid regurgitation, Chest pain, Palpitations, Bicuspid aortic valve, S... OMIM:620067
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Myalgia, Cardiomeg... OMIM:619051
Mal De Débarquement
Fatigue ORPHA:210272
Carnitine Palmitoyltransferase Ii Deficiency
Hepatic failure, Cardiomyopathy, Hypoketotic hypoglycemia, Rhabdomyolysis, Myopathy, Hepatic calc... ORPHA:157
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Telangiectasia, Generalized amyotrophy ORPHA:79279
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Elevated circulating hepatic transaminase concent... ORPHA:17
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Aica-Ribosiduria Due To Atic Deficiency
Secundum atrial septal defect, Hypoglycemia OMIM:608688
Gaisböck Syndrome
Elevated diastolic blood pressure, Obesity, Epigastric pain, Hypertension, Angina pectoris, Fatig... ORPHA:90041
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hypoglycemia, Bradycardia ORPHA:91355
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Hepatic failure, Dilated cardiomyopathy, Cholestasis, E... OMIM:619573
Noonan Syndrome 5
Hypertrophic cardiomyopathy, Large for gestational age, Arrhythmia, Atrial septal defect, Pulmoni... OMIM:611553
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Vaginal hernia ORPHA:3173
Shigellosis
Hypovolemic shock, Hypoglycemia, Failure to thrive in infancy, Asthenia, Rhabdomyolysis, Fatigue,... ORPHA:810
Tenorio Syndrome
Hypoglycemia, Hypoinsulinemia, Syncope, Raynaud phenomenon, Macroglossia OMIM:616260
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Disproportionate tall stature, Abnormal muscle fiber morph... ORPHA:3068
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Botulism
Abdominal pain, Arrhythmia, Fatigue ORPHA:1267
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Neuroendocrine neoplasm, Meningioma, Glucose intolerance, Dorsocervical fat pa... ORPHA:189427
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Dorsocervical fat pad, Diabetes mellitus, Hypertension OMIM:615830
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Lower limb muscle weakness, Myositis, Arrhythmia, Type 2... ORPHA:99845
Dysbetalipoproteinemia
Xanthelasma, Hepatic steatosis, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Acute p... ORPHA:412
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Fatigue, Atrial septal defect, Scapular winging, Ventricular septal defect OMIM:617061
Hec Syndrome
Arrhythmia, Endocardial fibroelastosis, Cardiomyopathy ORPHA:2119
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis OMIM:617600
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Cardiogenic Shock
Hypotension, Right ventricular failure, Abnormal left ventricular function, Congestive heart fail... ORPHA:97292
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Hypoglycemia, Abnormal heart morphology, Patent foramen ovale, Ventricular septal defect, Contrac... ORPHA:457279
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Umbilical hernia, Tricuspid regurgitation, Obesity, Mitral regurgitation... ORPHA:404443
Bone Dysplasia, Lethal Holmgren Type
Failure to thrive, Hypertrophic cardiomyopathy, Hernia, Weight loss, Atrial septal defect ORPHA:1842
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Failure to thrive, Cardiomyopathy, Myopathy, Weakness of facial musculature, Flexion contracture OMIM:201470
Neonatal Lupus Erythematosus
Atrioventricular block, Dilated cardiomyopathy, Abnormal heart morphology, Abnormal electrophysio... ORPHA:398124
Chronic Beryllium Disease
Weight loss, Fatigue ORPHA:133
Monosomy 13Q34
Insulin resistance, Hematochezia, Epistaxis, Hepatic steatosis, Common atrium, Pulmonic stenosis ORPHA:96168
Castleman Disease
Restrictive cardiomyopathy, Flank pain, Weight loss, Fatigue, Constitutional symptom, Abdominal pain ORPHA:160
Mcleod Syndrome
Dilated cardiomyopathy, Cardiomyopathy, Rhabdomyolysis, Myopathy, Atrial fibrillation OMIM:300842
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Myotonia Fluctuans
Spasticity of facial muscles, Myalgia, Fatigue ORPHA:99734
Nephronophthisis 16
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy OMIM:615382
Beta-Ketothiolase Deficiency
Hypotension, Hypoglycemia, Hyperglycemia, Hepatomegaly, Hypertension ORPHA:134
Hellp Syndrome
Hypotension, Shoulder pain, Epigastric pain, Increased body weight, Fatigue, Internal hemorrhage,... ORPHA:244242
Adrenocortical Carcinoma
Palpitations, Lung adenocarcinoma, Increased body weight, Hypertension, Adrenocortical carcinoma,... ORPHA:1501
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Alpha-aminoadipic aciduria, Cardiomyopathy OMIM:620089
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Exercise intolerance, Muscle fiber atrophy, Myalgia, Increased muscle lipid content, Rhabdomyolys... ORPHA:228302
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:246450
Hemorrhagic Fever-Renal Syndrome
Epistaxis, Hypotension, Subconjunctival hemorrhage, Shock, Elevated circulating creatinine concen... ORPHA:340
Isolated Atp Synthase Deficiency
Hypertrophic cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Exercise intolerance ORPHA:254913
Alg1-Cdg
Abnormal heart morphology, Cardiomyopathy ORPHA:79327
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Failure to thrive, Tricuspid regurgitation, Left ve... OMIM:620519
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Sinus bradycardia, Ventricular septal defect OMIM:126320
Abnormal Hair, Joint Laxity, And Developmental Delay
Tricuspid regurgitation, Lower limb pain, Mitral regurgitation, Sinus bradycardia, Fatigue OMIM:261990
Noonan Syndrome With Multiple Lentigines
Hypertrophic cardiomyopathy, Atrioventricular canal defect, Bundle branch block, Abnormal pulmona... ORPHA:500
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Lymphoid Interstitial Pneumonia
Failure to thrive, Abnormality of connective tissue, Pulmonary venous hypertension, Weight loss, ... ORPHA:79128
Brugada Syndrome 3
Shortened QT interval, Ventricular arrhythmia, Syncope, J wave, Atrial fibrillation, Sudden cardi... OMIM:611875
Q Fever
Vasculitis, Abnormal heart valve morphology, Myalgia, Night sweats, Weight loss, Fatigue, Myocard... ORPHA:781
Maple Syrup Urine Disease, Type Ia
Pancreatitis, Hypoglycemia OMIM:248600
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Neonatal hypoglycemia, Hepatic steatosis, Congestive heart failure OMIM:616271
Acute Promyelocytic Leukemia
Epistaxis, Diffuse alveolar hemorrhage, Gangrene, Weight loss, Fatigue, Abdominal pain, Bone pain ORPHA:520
Renal Nutcracker Syndrome
Flank pain, Syncope, Weight loss, Orthostatic hypotension, Abdominal pain, Fatigue, Tachycardia ORPHA:71273
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Chest pain, Palpitations, Increased pulmonary ... ORPHA:275766
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Cardiac arrest, Left ventricular noncompaction cardiomyopathy, Small... OMIM:620167
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Insulin resistance, Cardiomyopathy, Insulin-resistant diabetes mellit... ORPHA:769
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Decreased liver function, Hypertrophic cardiomyopathy, Increased intramyocellular ... OMIM:220110
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Failure to thrive, Cardiomyopathy ORPHA:324525
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Vasculitis, Weight loss, Fatigue, Bone pain ORPHA:324964
Lysosomal Acid Lipase Deficiency
Hepatic fibrosis, Hepatic failure, Elevated circulating hepatic transaminase concentration, Decre... ORPHA:275761
Cystic Echinococcosis
Abnormal heart morphology, Epigastric pain, Weight loss, Fatigue, Abnormality of the diaphragm ORPHA:400
Bohring-Opitz Syndrome
Cholelithiasis, Congenital contracture, Annular pancreas, Cardiomegaly, Abnormal cardiac septum m... ORPHA:97297
Garg-Mishra Progeroid Syndrome
Increased circulating lactate dehydrogenase concentration, Microvesicular hepatic steatosis OMIM:620601
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Vexas Syndrome
Arteritis, Night sweats, Arthralgia, Fatigue, Myelodysplasia OMIM:301054
Basilicata-Akhtar Syndrome
Camptodactyly, Neonatal hypoglycemia OMIM:301032
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Arrhythmia, Exercise intolerance, Mildly reduced left ventricular ejection fraction OMIM:618098
Isolated Thyroid-Stimulating Hormone Deficiency
Prolonged neonatal jaundice, Macroglossia, Bradycardia, Umbilical hernia ORPHA:90674
Shashi-Pena Syndrome
Limb hypertonia, Atrial septal defect, Hypoglycemia OMIM:617190
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Pituitary adenoma, Obesity, Glucose intolerance, Abdominal obesity, Hype... OMIM:219090
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Exercise intolerance, Failure to thrive, Generalized limb muscle atrophy, Ragged-red muscle fiber... OMIM:600462
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice, Macroglossia ORPHA:226307
Glioblastoma
Glioblastoma multiforme, Fatigue ORPHA:360
Septo-Optic Dysplasia Spectrum
Obesity, Fatigue, Maternal diabetes ORPHA:3157
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Transient a... OMIM:229600
Isolated Complex I Deficiency
Hypoglycemia, Hypertrophic cardiomyopathy, Hepatomegaly, Diabetes mellitus, Abnormal mitochondria... ORPHA:2609
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Orthostatic Hypotension 1
Atrial fibrillation, Neonatal hypoglycemia, Orthostatic hypotension, Weakness of facial musculature OMIM:223360
Inhalational Anthrax
Hypotension, Fatigue, Internal hemorrhage ORPHA:247257
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Leigh Syndrome
Generalized aminoaciduria, Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Congestive hea... ORPHA:506
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Foot dorsiflexor weakness, Night sweats, Intrinsic ha... OMIM:619574
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Hypomimic face ORPHA:352649
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Immunodeficiency 70
Chronic fatigue, Verrucae OMIM:618969
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Weight loss, Abnormal myocardium morphology, Fatigue, Abdominal pain... ORPHA:36426
Autosomal Dominant Dopa-Responsive Dystonia
Hypertension, Fatigue, Progressive flexion contractures, Torticollis ORPHA:98808
Behçet Disease
Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Pulmonary embolism, Cerebral ische... ORPHA:117
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Hypoglycemia ORPHA:397590
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Shoulder girdle muscle weakness, Distal upper limb amyotrophy, Abnormal morpholo... ORPHA:600
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Aminoaciduria, Intraventricular hemorrhage, Neonatal hypoglycemia, Hypoglycemia OMIM:619055
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal ob... OMIM:615812
Waldenström Macroglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Monoclonal immunoglobulin M proteinemia, Leuk... ORPHA:33226
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Neuroblastoma
Neoplasm of the nervous system, Weight loss, Fatigue, Neuroblastoma, Hypertension, Bone pain ORPHA:635
Igg4-Related Retroperitoneal Fibrosis
Budd-Chiari syndrome, Elevated circulating creatinine concentration, Large vessel vasculitis, Pai... ORPHA:49041
Familial Isolated Hypoparathyroidism
Abnormal dental enamel morphology, Arrhythmia, Myopathy ORPHA:2238
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Hypoglycemia, Myopathy, Telangiectasia, Angina pectoris, Lipoma, Intracr... ORPHA:109
Granulomatosis With Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Chest pain, Cerebral ischemia, Myalgia, Hyper... ORPHA:900
Yellow Fever
Pancreatic hyperplasia, Shock, Elevated circulating aspartate aminotransferase concentration, Red... ORPHA:99829
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Atypical scarring of skin, Widened atrophic scar, Decreased muscle mass, Congestive heart failure... ORPHA:1900
Acute Monoblastic/Monocytic Leukemia
Weight loss, Fatigue, Acute monocytic leukemia ORPHA:514
Juvenile Amyotrophic Lateral Sclerosis
Urinary incontinence, Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, M... ORPHA:300605
Menkes Disease
Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Hypoglycemia, Umbilica... ORPHA:565
Gm1 Gangliosidosis
Failure to thrive, Cardiomyopathy, Camptodactyly of finger, Abnormal heart morphology, Congestive... ORPHA:354
Combined Oxidative Phosphorylation Deficiency 12
Cholestasis, Elevated circulating aspartate aminotransferase concentration, Elevated circulating ... OMIM:614924
Primary Sclerosing Cholangitis
Type I diabetes mellitus, Spider hemangioma, Palmar telangiectasia, Congestive heart failure, Por... ORPHA:171
Chromosome 2Q37 Deletion Syndrome
Obesity, Subvalvular aortic stenosis, Arrhythmia OMIM:600430
Fabry Disease
Congestive heart failure, Transient ischemic attack, Angina pectoris, Ventricular septal hypertro... OMIM:301500
Costello Syndrome
Failure to thrive in infancy, Hypertrophic cardiomyopathy, Abnormal dental enamel morphology, Thi... ORPHA:3071
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Hypertrophic cardiomyopathy, Heart murmur, Shortened PR interval, Cardiomegaly... ORPHA:308552
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
8P23.1 Microdeletion Syndrome
Hypoplastic left heart, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Obesity, Atrioventricul... ORPHA:251071
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Hypertrophic cardiomyopathy, Tricuspid regurgitation, Right ventricular dilatation, Wolff-Parkins... OMIM:619705
Zygomycosis
Cellulitis, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Fasciitis, Chest pain, Pain, He... ORPHA:73263
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Failure to thrive, Histiocytoid cardiomyopathy, Ventricular tachycardia, ... OMIM:300952
Osteopetrosis, Autosomal Dominant 3
Asthenia, Fatigue OMIM:618107
Amyloidosis, Finnish Type
Decreased heart rate variability, Cardiac amyloidosis, Cardiomyopathy, Orthostatic hypotension OMIM:105120
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Lead Poisoning
Impairment of activities of daily living, Fatigue, Abdominal pain, Abdominal cramps, Hypertension... ORPHA:330015
Klatskin Tumor
Abdominal pain, Weight loss, Fatigue, Cholangiocarcinoma ORPHA:99978
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy,... OMIM:615895
Glucocorticoid Deficiency 2
Hypoglycemia, Recurrent hypoglycemia OMIM:607398
Pituicytoma
Fatigue ORPHA:251623
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertrophic cardiomyopathy, Skeletal muscle atrophy OMIM:616896
Wiskott-Aldrich Syndrome
Vasculitis, Hematochezia, Epistaxis, Acute leukemia, Lymphoma, Recurrent intrapulmonary hemorrhag... ORPHA:906
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Proximal muscle weakness in upper limbs, Exercise intolerance, Cardiomyopathy, Lower limb muscle ... ORPHA:363623
Short Qt Syndrome 7
Shortened QT interval, Syncope, Ventricular fibrillation, Cardiac arrest, Sudden cardiac death OMIM:620231
Kufor-Rakeb Syndrome
Fatigue, Leg muscle stiffness, Torticollis OMIM:606693
Noonan Syndrome 7
Hypertrophic cardiomyopathy, Large for gestational age, Lentigo maligna melanoma, Atrial septal d... OMIM:613706
Reynolds Syndrome
Myalgia, Telangiectasia of the skin, Fatigue, Mucosal telangiectasiae ORPHA:779
Cold Agglutinin Disease
Arthralgia, Fatigue, Back pain ORPHA:56425
Acute Adrenal Insufficiency
Hypotension, Failure to thrive, Hypoglycemia, Weight loss, Arthralgia, Orthostatic hypotension, F... ORPHA:95409
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Cardiomyopathy, Elevated circulating creatinine concentration, Punct... ORPHA:247691
Glycogen Storage Disease Ib
Elevated circulating hepatic transaminase concentration, Hypoglycemia, Splenomegaly, Pancreatitis... OMIM:232220
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Mitral valve prolapse, Angina pectoris, ... ORPHA:758
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Hyperglycinuria, Skeletal muscle atrophy, Hypoglycemia OMIM:210210
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Ungual fibroma, Chest pain, Pulmonary lymphangiomyomatosis, Renal an... ORPHA:538
Somatostatinoma
Gastrointestinal hemorrhage, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Neop... ORPHA:97283
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Weight loss, Abnormal myocardium morphology, Fatigue, Abdominal pain... ORPHA:537
Congenital Disorder Of Glycosylation, Type Iiw
Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase concentration... OMIM:619525
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Neoplasm of the nervous system, Arrhythmia, Ganglioneuroblastoma ORPHA:2151
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Prolonged neonatal jaundice, Arteritis, Hypoglycemia OMIM:233600
Abetalipoproteinemia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Hypocholesterolemia, H... ORPHA:14
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Failure to thrive, Hypertrophic cardio... OMIM:615471
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Neonatal hypoglycemia, Bradycardia OMIM:617248
Cholera
Tachycardia, Hypotension, Hypovolemic shock, Hypoglycemia ORPHA:173
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Failure to thrive, Cerebral ischemia, Neoplasm, Arrhythmia, Telangiectasia of the skin, Visceral ... ORPHA:60040
Scorpion Envenomation
Cardiogenic shock, Prominent U wave, Glycosuria, Congestive heart failure, Bundle branch block, H... ORPHA:466677
Paroxysmal Nocturnal Hemoglobinuria 2
Abdominal pain, Arthralgia, Fatigue OMIM:615399
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Xanthelasma, Abnormal circulating enzyme concentration or activity, Hyperlipidemia, Hepatic steat... ORPHA:79259
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Dilated cardiomyopathy, Failure to thrive in infancy, High-output ... ORPHA:231226
Pediatric Hepatocellular Carcinoma
Abdominal pain, Epigastric pain, Fatigue ORPHA:33402
Refsum Disease
Skeletal muscle atrophy, Cardiomyopathy, Heart block ORPHA:773
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Exercise intolerance, Skeletal muscle atrophy, Li... OMIM:157640
Xeroderma Pigmentosum
Aminoaciduria, Failure to thrive, Neoplasm, Telangiectasia, Conjunctival telangiectasia, Melanoma... ORPHA:910
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Somatomammotropinoma
Pituitary adenoma, Pituitary prolactin cell adenoma, Hypertrophic cardiomyopathy, Tall stature, P... ORPHA:314769
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Cholestasis, Microvesicular hepatic steatosis, Prolonged neona... OMIM:619377
Erdheim-Chester Disease
Congestive heart failure, Abnormal pericardium morphology, Abnormal aortic valve morphology, Weig... ORPHA:35687
Iatrogenic Botulism
Fatigue, Orthostatic hypotension ORPHA:254509
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Aortic valve stenosis, Hypoglycemia, Umbilical hernia, Bicuspid aortic valve, Macroglossia OMIM:614501
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Portal hypertension, Hepatocellular carcinoma OMIM:619902
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Bilateral camptodactyly, Fatigue, Back pain, Umbilical hernia OMIM:619234
S-Adenosylhomocysteine Hydrolase Deficiency
Muscular dystrophy, Failure to thrive, Cardiomyopathy, Hepatocellular carcinoma ORPHA:88618
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Hypoglycemia, Trigeminal neuralgia, Fatigue, Hypertension ORPHA:95613
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Exocrine pancreatic insufficiency, Hepatic steatosis, Skeletal muscle fibrosis,... OMIM:616263
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Diabetes mellitus, Congestive heart failure OMIM:229300
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Simpson-Golabi-Behmel Syndrome
Cardiomyopathy, Umbilical hernia, Camptodactyly of finger, Polysplenia, Hypoglycemia, Bundle bran... ORPHA:373
Pituitary Hormone Deficiency, Combined, 2
Hypoglycemic seizures, Neonatal hypoglycemia OMIM:262600
Congenital Disorder Of Glycosylation, Type Ig
Hypoglycemia, Patent foramen ovale OMIM:607143
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cholestasis, Hepatic steatosis, Splenome... OMIM:261515
Low Phospholipid-Associated Cholelithiasis
Abdominal colic, Obesity, Neoplasm of the liver, Hepatocellular carcinoma, Overweight, Hypertensi... ORPHA:69663
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Aortic regurgitation, Cardiomyopathy, Umbilical herni... ORPHA:576
Mitochondrial Complex I Deficiency, Nuclear Type 1
Hepatic failure, Skeletal muscle atrophy, Hypoglycemia, Concentric hypertrophic cardiomyopathy, H... OMIM:252010
Vipoma
Follicular thyroid carcinoma, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Gan... ORPHA:97282
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Reni Syndrome
Hypoglycemia OMIM:617575
Thyroid Hypoplasia
Macroglossia, Fatigue ORPHA:95720
Juvenile Polyposis Syndrome
Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intest... ORPHA:2929
Dubin-Johnson Syndrome
Abdominal pain, Fatigue ORPHA:234
Alstrom Syndrome
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Insulin-resistan... OMIM:203800
Acromegaly
Pituitary prolactin cell adenoma, Hypertrophic cardiomyopathy, Tall stature, Pituitary growth hor... ORPHA:963
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Dilated cardiomyopathy, Ragged-red muscle fibers ORPHA:70595
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Asthenia, Myalgia, Gangrene, Weight loss, Fatigue, Retinal hemorrhag... OMIM:608710
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Obesity, Type II diabetes mellitus, Myocardial infarction OMIM:618620
Sotos Syndrome
Muscular ventricular septal defect, Glucose intolerance, Ventricular septal defect, Atrial septal... OMIM:117550
Cimdag Syndrome
Hepatomegaly, Cholelithiasis, Lipodystrophy, Microvesicular hepatic steatosis OMIM:619273
Wilson Disease
Aminoaciduria, Hepatic failure, Portal fibrosis, Acute hepatic failure, Elevated circulating aspa... OMIM:277900
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Acute myelomonocytic leukemia, Low back pain, Fatigue ORPHA:86843
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly, Flexion contracture, Small ... OMIM:616897
Cyclic Neutropenia
Cellulitis, Abdominal pain, Fatigue, Bone pain ORPHA:2686
Pearson Syndrome
Hepatic failure, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Exocrin... ORPHA:699
Oculodentodigital Dysplasia
Hypoglycemia, Umbilical hernia, Abnormal dental enamel morphology, Camptodactyly of finger, Ventr... ORPHA:2710
Angiostrongyliasis
Neck pain, Myalgia, Pain, Arthralgia, Fatigue, Abdominal pain ORPHA:74
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Smith-Magenis Syndrome
Increased body weight, Abnormal heart morphology OMIM:182290
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Acute Radiation Syndrome
Telangiectasia, Hypotension, Fatigue ORPHA:454831
New-Onset Refractory Status Epilepticus
Fatigue ORPHA:363558
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Hypoglycemia, Atrial septal defect, Joint contracture OMIM:618005
Arachnoiditis
Arthralgia, Fatigue ORPHA:137817
Cinca Syndrome
Myalgia, Arthralgia, Fatigue ORPHA:1451
Liver Disease, Severe Congenital
Portal inflammation, Dilatation of the ventricular cavity, Hepatic steatosis, Ventricular septal ... OMIM:619991
Beckwith-Wiedemann Syndrome
Cardiomyopathy, Diastasis recti, Nephroblastoma, Cardiomegaly, Overgrowth, Hepatoblastoma, Gonado... OMIM:130650
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Localized Scleroderma
Vasculitis, Skeletal muscle atrophy, Fasciitis, Myopathy, Arrhythmia, Progressive loss of facial ... ORPHA:90289
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Japanese Encephalitis
Skeletal muscle atrophy, Elbow flexion contracture, Myalgia, Distal lower limb muscle weakness, R... ORPHA:79139
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Fatigue ORPHA:99832
Addison Disease
Thymoma, Type I diabetes mellitus, Hypotension, Failure to thrive, Hypoglycemia, Weight loss, Art... ORPHA:85138
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Neonatal hypoglycemia, Diastasis recti ORPHA:457485
Pituitary Hormone Deficiency, Combined, 6
Neonatal hypoglycemia, Hypoglycemia OMIM:613986
Listeriosis
Arteritis, Congestive heart failure, Myalgia, Rhabdomyolysis, Back pain, Arthralgia, Fatigue, Myo... ORPHA:533
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Mitral valve calcification, Abnormal... ORPHA:77261
Phakomatosis Pigmentokeratotica
Cutaneous melanoma, Pheochromocytoma, Nephroblastoma, Arrhythmia, Hemangioma, Renal transitional ... ORPHA:2874
Mucopolysaccharidosis-Plus Syndrome
Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Atrial septal defect, Hepato... OMIM:617303
Wolfram Syndrome 1
Diabetes mellitus, Cardiomyopathy OMIM:222300
Macs Syndrome
Umbilical hernia, Fatigue, Decreased body weight OMIM:613075
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Lower limb amyotrophy ORPHA:496790
Mirage Syndrome
Intracranial hemorrhage, Hypoplastic spleen, Hypoglycemia OMIM:617053
Carney Complex
Follicular thyroid carcinoma, Tall stature, Increased body weight, Neoplasm of the pharynx, Ovari... ORPHA:1359
Glycogen Storage Disease Ic
Spider hemangioma, Hypoglycemia, Chronic pancreatitis, Hepatoblastoma, Pulmonary arterial hyperte... OMIM:232240
Beta-Thalassemia Major
Hypoplasia of the musculature, Dilated cardiomyopathy, Failure to thrive in infancy, High-output ... ORPHA:231214
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Noonan Syndrome 6
Hypertrophic cardiomyopathy, Juvenile myelomonocytic leukemia, Pulmonic stenosis OMIM:613224
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Hyperglycemia, Partial atrioventricular canal defect, Decreased liver function OMIM:620423
Microscopic Polyangiitis
Vasculitis, Gastrointestinal hemorrhage, Epistaxis, Congestive heart failure, Myalgia, Gangrene, ... ORPHA:727
Immunodeficiency 31C
Weight loss, Skeletal muscle atrophy, Fatigue, Diabetes mellitus OMIM:614162
Hughes-Stovin Syndrome
Vasculitis, Pulmonary embolism, Chest pain, Pulmonary arterial hypertension, Fatigue ORPHA:228116
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Telangiectasia of the skin, Hypoglycemia OMIM:616007
Combined Oxidative Phosphorylation Deficiency 58
Ragged-red muscle fibers, Hypoglycemia OMIM:620451
Holoprosencephaly
Hypoglycemia, Tetralogy of Fallot, Abnormality of the spleen, Abnormal pulmonary valve morphology... ORPHA:2162
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Chondrocalcinosis, Skeletal muscle atrophy, Gl... ORPHA:79474
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Failure to thrive, Umbilical hernia, Hypertrophic cardiomyopathy, Inguinal hernia, Arrhythmia, Hy... OMIM:614052
Cushing Syndrome Due To Ectopic Acth Secretion
Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Capillary fragility, Increase... ORPHA:99889
Ogden Syndrome
Cardiogenic shock, Inguinal hernia, Ventricular septal defect, Arrhythmia, Torticollis ORPHA:276432
Tick-Borne Encephalitis
Skeletal muscle atrophy, Limb pain, Myalgia, Arthralgia, Abnormal myocardium morphology, Fatigue,... ORPHA:297
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Congenital Syphilis
Hypoglycemia, Hepatosplenomegaly, Prolonged neonatal jaundice, Pancreatitis, Myocarditis ORPHA:499009
Mucopolysaccharidosis, Type Vi
Sinus tachycardia, Cardiomyopathy, Umbilical hernia, Tricuspid regurgitation, Mitral regurgitatio... OMIM:253200
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Arrhythmia, Transposition of the great arteries, Paroxy... OMIM:617877
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Umbilical hernia, Tall stature, Transient ischemic attack, Congenital di... OMIM:619656
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Hypertrophic cardiomyopathy, Umbilical hernia, Failure to thrive, Ventricular septal defect OMIM:612938
Adrenomyeloneuropathy
Leg muscle stiffness, Impaired continence, Back pain, Distal lower limb muscle weakness, Fatigue,... ORPHA:139399
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypoglycemia, ... OMIM:613658
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue, Torticollis OMIM:617186
Ogden Syndrome
Torsade de pointes, Ventricular septal defect, Bicuspid aortic valve, Premature ventricular contr... OMIM:300855
Myasthenia, Limb-Girdle, Autoimmune
Thymoma, Proximal amyotrophy, Type 2 muscle fiber atrophy, Neoplasm OMIM:159400
Friedreich Ataxia
Cardiomyopathy, Diabetes mellitus, Hand muscle atrophy ORPHA:95
Alg12-Cdg
Elevated circulating hepatic transaminase concentration, Recurrent hypoglycemia, Biventricular hy... ORPHA:79324
Hypocalciuric Hypercalcemia, Familial, Type Iii
Multiple lipomas, Chondrocalcinosis, Fatigue, Bone pain OMIM:600740
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated circulating hepatic transaminase concentration, Abnormality of exocrine pancreas physiol... ORPHA:93111
Exercise-Induced Malignant Hyperthermia
Hypotension, Abnormal pulse pressure, Sinus tachycardia, Abnormal T-wave, Rhabdomyolysis, ST segm... ORPHA:466650
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Cardiomyopathy, Camptodactyly of toe, Cardiomegaly, Impaired myocardial contra... ORPHA:158687
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Slender build, Ragged-red muscle fibers, Cachexia, Weight loss, Abdominal pain... OMIM:603041
Nocardiosis
Cellulitis, Abnormal heart valve morphology, Chest pain, Night sweats, Weight loss, Fatigue, Chil... ORPHA:31204
Chronic Myeloid Leukemia
Myeloproliferative disorder, Fatigue ORPHA:521
Hurler Syndrome
Aortic regurgitation, Cardiomyopathy, Umbilical hernia, Endocardial fibroelastosis, Mitral regurg... OMIM:607014
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Multiple Endocrine Neoplasia, Type I
Hypoglycemia, Insulinoma, Pancreatic islet cell adenoma, Subcutaneous lipoma OMIM:131100
Cutis Laxa, Autosomal Recessive, Type Ib
Tricuspid regurgitation, Inguinal hernia, Congenital diaphragmatic hernia, Hypoplasia of the diap... OMIM:614437
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Hypoglycemia, Hypertrophic cardiomyopathy, Mitral atresia, Hyperglycemia, Inguinal hernia, Mitral... OMIM:220111
Leber Optic Atrophy
Arrhythmia, Myopathy OMIM:535000
Herpes Simplex Virus Encephalitis
Fatigue, Chills ORPHA:1930
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Bone Marrow Failure Syndrome 6
Chronic fatigue, Myalgia, Squamous cell carcinoma of the tongue OMIM:618849
Myasthenic Syndrome, Congenital, 21, Presynaptic
Exercise intolerance, Fatigue, Knee flexion contracture, Weakness of facial musculature OMIM:617239
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Leprechaunism
Postprandial hyperglycemia, Insulin resistance, Skeletal muscle atrophy, Hypertrophic cardiomyopa... ORPHA:508
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Hypoglycemia, Torticollis OMIM:620224
Cerebral Visual Impairment
Intracranial hemorrhage, Neonatal hypoglycemia, Ischemic stroke ORPHA:447788
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:615356
X-Linked Dominant Chondrodysplasia Punctata
Flexion contracture, Scarring alopecia of scalp, Neonatal hypoglycemia ORPHA:35173
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Cardiac arrest, Arrhythmia ORPHA:168593
Kawasaki Disease
Vasculitis, Double outlet right ventricle with subpulmonary ventricular septal defect without pul... ORPHA:2331
Noonan Syndrome 4
Hypertrophic cardiomyopathy, Large for gestational age, Ventricular septal defect, Atrial septal ... OMIM:610733
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Cholelithiasis, Hypoglycemia, Umbilical hernia, Hepatosplenomegaly, Cholecystitis, Hepatomegaly OMIM:301066
Silver-Russell Syndrome
Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia ORPHA:813
Wars2-Related Combined Oxidative Phosphorylation Defect
Neonatal hypoglycemia, Limb hypertonia, Cardiomyopathy, Generalized amyotrophy ORPHA:572798
Non-Functioning Pituitary Adenoma
Hypotension, Fatigue, Increased intraabdominal fat ORPHA:91349
Kleefstra Syndrome
Tetralogy of Fallot, Obesity, Ventricular septal defect, Hernia, Bicuspid aortic valve, Arrhythmi... ORPHA:261494
Erythrokeratodermia Variabilis Et Progressiva 6
Arrhythmia OMIM:618531
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Hypoglycemia, Abnormal heart mor... ORPHA:79282
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Hypotension, Fatigue, Failure to thrive, Recurrent hypoglycemia ORPHA:293978
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated circulating hepatic transaminase concentration, Tricuspid regurgitation, Generalized lip... OMIM:619127
Congenital Dyserythropoietic Anemia Type Iii
Fatigue, Melena ORPHA:98870
Tsh-Secreting Pituitary Adenoma
Hypotension, Congestive heart failure, Ventricular arrhythmia, Palpitations, Weight loss, Fatigue... ORPHA:91347
Amyloidosis, Hereditary Systemic 1
Cardiomegaly, Orthostatic hypotension due to autonomic dysfunction, Urinary incontinence, Cardiom... OMIM:105210
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Hypocalcemic Vitamin D-Dependent Rickets
Generalized aminoaciduria, Failure to thrive, Cardiomyopathy, Enamel hypoplasia, Bone pain ORPHA:289157
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Right ventricular failure, Abdominal colic, Lymphoma, Constrictive pericardi... ORPHA:90363
Martsolf Syndrome 1
Cardiac arrest, Inguinal hernia, Cardiomyopathy, Congestive heart failure OMIM:212720
Glucagonoma
Gastrointestinal hemorrhage, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous lipoma, Epis... ORPHA:97280
Marfan Syndrome
Aortic regurgitation, Skeletal muscle atrophy, Congestive heart failure, Slender build, Myalgia, ... ORPHA:558
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis,... OMIM:203700
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
Brucellosis
Small for gestational age, Arteritis, Failure to thrive, Asthenia, Transient ischemic attack, Abn... ORPHA:1304
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Mucopolysaccharidosis Type 1
Abnormal tendon morphology, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart... ORPHA:579
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Aminoaciduria, Arrhythmia OMIM:273400
Immunodeficiency 58
Atrophic scars, Verrucae, Fatigue, Failure to thrive OMIM:618131
Multiple Myeloma
Tall stature, Elevated circulating creatinine concentration, Weight loss, Fatigue, Bone pain ORPHA:29073
Hereditary Xanthinuria
Chronic fatigue, Flank pain, Myopathy ORPHA:3467
Beckwith-Wiedemann Syndrome
Tall stature, Congenital diaphragmatic hernia, Hepatoblastoma, Neonatal hypoglycemia, Hypertrophi... ORPHA:116
Autoimmune Pulmonary Alveolar Proteinosis
Chest pain, Weight loss, Fatigue ORPHA:747
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Kabuki Syndrome 2
Atrioventricular canal defect, Neonatal hypoglycemia, Atrial septal defect, Pulmonic stenosis OMIM:300867
Primary Hyperoxaluria
Arterial occlusion, Failure to thrive, Cardiomyopathy, Bone pain, Intermittent claudication, Gang... ORPHA:416
Perlman Syndrome
Hypoglycemia, Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia, Panc... OMIM:267000
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Exercise intolerance, Glycosuria, Failure to thrive, Hypertrophic cardiomyopathy, Glucose intoler... OMIM:616539
Immunodeficiency 97 With Autoinflammation
Abdominal pain, Fatigue OMIM:619802
Hurler Syndrome
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Endocardial fibroelasto... ORPHA:93473
Acute Liver Failure
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Hypotension... ORPHA:90062
Lethal Congenital Contracture Syndrome 9
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Joint... OMIM:616503
Selective Igm Deficiency
Cellulitis, Verrucae, Fasciitis, Stomach cancer, Thyroid carcinoma, Non-Hodgkin lymphoma, Raynaud... ORPHA:331235
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Abnormal dental enamel morphology, Arrhythmia, Diabetes mellitus, Camptodactyly of finger ORPHA:3220
Congenital Enterovirus Infection
Myocarditis, Hypotension, Pericardial effusion, Cardiomyopathy ORPHA:292
Coccidioidomycosis
Vasculitis, Atypical scarring of skin, Vasospasm, Chest pain, Cerebral ischemia, Myalgia, Fatigue... ORPHA:228123
Cushing Disease
Pituitary corticotropic cell adenoma, Capillary fragility, Dorsocervical fat pad, Increased body ... ORPHA:96253
Gamma-Heavy Chain Disease
Fatigue, Neoplasm of the tongue ORPHA:100026
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Neoplasm of the nervous system, Episodic abdomin... ORPHA:100086
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Failure to thrive, Camptodactyly of finger, Elbow flexion contracture, C... OMIM:256040
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Myopathy OMIM:300219
Aicardi-Goutieres Syndrome 1
Multiple gastric polyps, Vasculitis, Cardiomyopathy OMIM:225750
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hematochezia, Gastrointestinal hemorrhage, Diffuse alveolar hemorrhage, Melena, Abnormal heart mo... ORPHA:464321
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Bradycardia, Umbilical hernia OMIM:218700
Cutis Laxa, Autosomal Recessive, Type Iid
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, Reduced subcutaneous ad... OMIM:617403
Infection-Related Hemolytic Uremic Syndrome
Hypertensive crisis, Hypertension, Fatigue, Myocarditis, Abdominal pain, Abdominal cramps, Diabet... ORPHA:544482
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Hypovolemic shock, Arrhythmia, Weight loss ORPHA:171876
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Neurofibroma, Failure to thrive, Congestive heart failure, Obesity, Ventric... OMIM:619475
Overhydrated Hereditary Stomatocytosis
Fatigue, Pulmonary embolism OMIM:185000
Alternating Hemiplegia Of Childhood
Failure to thrive, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, F... ORPHA:2131
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atypical scarring of skin, Disproportionate tall stature, Camptodactyly of ... ORPHA:284984
Noonan Syndrome 2
Cardiomyopathy, Hypertrophic cardiomyopathy, Atrioventricular canal defect, Mitral stenosis, Mitr... OMIM:605275
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Functioning Gonadotropic Adenoma
Fatigue, Pituitary gonadotropic cell adenoma ORPHA:91348
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Endocardial fibroelastosis, Right atrial enlargement, Restrictive cardiomyopathy, Pericardial eff... OMIM:619313
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:98914
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Muscle fiber atrophy, Distal lower limb mu... ORPHA:590
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Acute Transverse Myelitis
Upper limb muscle weakness, Distal lower limb muscle weakness, Subarachnoid hemorrhage, Fatigue, ... ORPHA:139417
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Umbilical hernia, Abnormal heart valve morphology, Diastasis recti, Macroglossia,... OMIM:253220
Hermansky-Pudlak Syndrome 1
Hematochezia, Abdominal pain, Epistaxis, Cardiomyopathy OMIM:203300
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Severely reduced left ventricular ejection fraction, Inguinal hernia, Cardi... OMIM:252600
Aicardi-Goutieres Syndrome 7
Hepatitis, Hypertrophic cardiomyopathy, Splenomegaly, Hepatic steatosis, Hepatomegaly, Pericardia... OMIM:615846
Agel Amyloidosis
Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, Facial palsy, Cardiomyopathy ORPHA:85448
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Hypertrophic cardiomyopathy, Secundum atrial septal defect, Facial diplegia OMIM:619121
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Inhalational Botulism
Fatigue ORPHA:254504
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Lymphoma, Myalgia, Arthralgia, Fatigue, Diabetes mellitus ORPHA:183675
Mitochondrial Dna-Associated Leigh Syndrome
Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Cardiac conduction abnorm... ORPHA:255210
Ulnar-Mammary Syndrome
Camptodactyly of finger, Obesity, Ventricular septal defect, Hernia of the abdominal wall, Arrhyt... ORPHA:3138
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Achilles tendon calcification, Fatigue OMIM:617994
Osteogenesis Imperfecta
Aortic regurgitation, Dentinogenesis imperfecta, Exercise intolerance, Umbilical hernia, Abnormal... ORPHA:666
Classical Ehlers-Danlos Syndrome
Cigarette-paper scars, Umbilical hernia, Arterial rupture, Atrophic scars, Limb pain, Mitral regu... ORPHA:287
Beta-Thalassemia
Hypertrophic cardiomyopathy ORPHA:848
Vici Syndrome
Cardiomyopathy ORPHA:1493
Intellectual Developmental Disorder, X-Linked 112
Abnormal heart morphology, Bicuspid aortic valve, Fatigue, Pain OMIM:301111
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Generalized aminoaciduria, Nodular regenerative hyperplasia of liver, Elevated circulating hepati... ORPHA:404454
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Abnormal heart morphology, Hypertrophic cardiomyopathy, Tricuspid regur... ORPHA:505248
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Malt Lymphoma
Abdominal pain, B-cell lymphoma, Weight loss, Fatigue ORPHA:52417
Hypermobile Ehlers-Danlos Syndrome
Epistaxis, Atypical scarring of skin, Umbilical hernia, Chronic pain, Cystocele, Myalgia, Inguina... ORPHA:285
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Chest pain, Increased pulmonary vascular resistance, Weight loss, Mitr... ORPHA:60025
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hypoglycemia ORPHA:90790
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia ORPHA:469
Native American Myopathy
Congenital contracture, Skeletal muscle atrophy, Muscle fiber atrophy, Facial hemangioma, Camptod... ORPHA:168572
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Kikuchi-Fujimoto Disease
Vasculitis, Myalgia, Night sweats, Weight loss, Arthralgia, Fatigue, Vasculitis in the skin, Myoc... ORPHA:50918
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatocellular necrosis, Hepatosplenomegaly, Microvesicular hepatic stea... OMIM:618278
Primary Sjögren Syndrome
Vasculitis, Arteritis, Lymphoma, Chronic pain, Myalgia, Myositis, Arthralgia, Fatigue, Raynaud ph... ORPHA:289390
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Hernia, Cardiomyopathy, Abnormal cardiac septum morphology OMIM:217980
Magel2-Related Prader-Willi-Like Syndrome
Failure to thrive, Type II diabetes mellitus, Increased body weight, Atrial septal defect, Abdomi... ORPHA:398069
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Hypertension, Abdominal pain, Fatigue, Pulmonary embolism ORPHA:567546
Lymphedema-Distichiasis Syndrome
Arrhythmia, Diabetes mellitus, Fibrosarcoma ORPHA:33001
Adenocarcinoma Of The Anal Canal
Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the rectum, Neoplasm of the liv... ORPHA:424016
Costello Syndrome
Failure to thrive, Hypoglycemia, Sudden death, Hypertrophic cardiomyopathy, Vestibular schwannoma... OMIM:218040
Usher Syndrome
Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Abnormal dental enamel mo... ORPHA:886
Severe Generalized Junctional Epidermolysis Bullosa
Dilated cardiomyopathy, Enamel hypoplasia, Bradycardia ORPHA:79404
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Wrist flexion contracture, Calf muscle hypertrophy, Muscle fiber necros... OMIM:618733
Glutaryl-Coa Dehydrogenase Deficiency
Retinal hemorrhage, Subdural hemorrhage, Fasting hypoglycemia ORPHA:25
Familial Multiple Nevi Flammei
Arrhythmia, Pulmonary embolism, Intracranial hemorrhage ORPHA:624
Tetrasomy 9P
Umbilical hernia, Abnormal dental enamel morphology, Abnormal mitral valve morphology, Patent for... ORPHA:3310
Singleton-Merten Syndrome 2
Aortic valve stenosis, Arrhythmia, Aortic valve calcification OMIM:616298
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, P... OMIM:615415
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Elevated circulating alkaline phosphatase concentration, Microvesicular hepatic steatosis, Cirrho... OMIM:300868
Gaucher Disease
Aortic valve calcification, Abnormal pericardium morphology, Abnormal heart valve morphology, Mit... ORPHA:355
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Congenital diaphragmatic hernia, Histiocytoid cardiomyopathy, Ven... OMIM:309801
Postinfectious Vasculitis
Bacterial endocarditis, Cerebral vasculitis, Cardiomyopathy, Ischemic stroke, Myalgia, Night swea... ORPHA:48435
Chikungunya
Epistaxis, Shoulder pain, Myalgia, Arthralgia, Fatigue, Raynaud phenomenon, Enthesitis, Knee pain... ORPHA:324625
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Failure to thrive, Hypertrophic cardiomyopathy, Large for gestational age, ... OMIM:607721
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy OMIM:619053
Gm1 Gangliosidosis Type 1
Abnormal odontoid tissue morphology, Macroglossia, Cardiomyopathy ORPHA:79255
Igg4-Related Kidney Disease
Arteritis, Elevated circulating creatinine concentration, Lymphocytoma cutis, Weight loss, Fatigu... ORPHA:449395
Vici Syndrome
Dilated cardiomyopathy, Failure to thrive, Cardiomyopathy, Congestive heart failure, Myopathy, Le... OMIM:242840
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy, U... OMIM:252500
Trichothiodystrophy
Cardiomyopathy, Umbilical hernia, Absence of subcutaneous fat, Multiple joint contractures, Ventr... ORPHA:33364
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Abnormal heart morphology, Fasting hypoglycemia, Decreased muscle mass, Insulin resistance ORPHA:96182
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, M... OMIM:616564
Mucopolysaccharidosis Type 2
Contractures of the large joints, Cardiomyopathy, Umbilical hernia, Abnormal heart morphology, Ab... ORPHA:580
Glycerol Kinase Deficiency
Hypoglycemia, Muscular dystrophy, Chronic pancreatitis, Myopathy OMIM:307030
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Diabetes mellitus, Myopathy ORPHA:3463
Mucopolysaccharidosis Type 2, Severe Form
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Umbilical hernia, Abnor... ORPHA:217085
Noonan Syndrome 14
Aortic regurgitation, Hypertrophic cardiomyopathy, Mitral valve prolapse, Scapular winging, Pulmo... OMIM:619745
Turner Syndrome Due To Structural X Chromosome Anomalies
Hypoplastic left heart, Hepatic fibrosis, Atypical scarring of skin, Cholestatic liver disease, E... ORPHA:99413
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Type II diabetes mellitus, Hepatic steat... OMIM:210900
Mosaic Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Atypical scarring of skin, Cholestatic liver disease, E... ORPHA:99228
Monosomy X
Hypoplastic left heart, Hepatic fibrosis, Atypical scarring of skin, Cholestatic liver disease, E... ORPHA:99226
Turner Syndrome
Hypoplastic left heart, Hepatic fibrosis, Atypical scarring of skin, Cholestatic liver disease, E... ORPHA:881
Schwartz-Jampel Syndrome
Odontogenic neoplasm, Skeletal muscle atrophy, Shoulder flexion contracture, Skeletal muscle hype... ORPHA:800
Homozygous Familial Hypercholesterolemia
Tendon xanthomatosis, Abnormal tendon morphology, Supravalvular aortic stenosis, Hepatic steatosi... ORPHA:391665
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy, Small for gestational age OMIM:616051
Prolactinoma
Hypotension, Fatigue ORPHA:2965
Mucopolysaccharidosis Type 2, Attenuated Form
Cardiomyopathy, Camptodactyly of finger, Abnormal heart valve morphology, Umbilical hernia, Abnor... ORPHA:217093
African Trypanosomiasis
Urinary incontinence, Second degree atrioventricular block, Third degree atrioventricular block, ... ORPHA:3385
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Cardiomyopathy OMIM:616084
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Arrhythmia, Enamel hypoplasia, Atrial septal defect, Patent foramen ovale OMIM:619184
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypotension, Neonatal hypoglycemia ORPHA:90791
Parkinson Disease 20, Early-Onset
Fatigue, Leg muscle stiffness OMIM:615530
Plague
Hypotension, Chest pain, Arrhythmia, Arthralgia, Hematemesis, Abdominal pain, Fatigue, Tachycardi... ORPHA:707
Deeah Syndrome
Hepatomegaly, Neonatal hypoglycemia, Exocrine pancreatic insufficiency, Decreased heart rate vari... OMIM:619004
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Congestive heart failure, Tricuspid regurgitation, Panniculitis, Noncompaction cardiomyopathy, My... ORPHA:508542
Arima Syndrome
Hepatomegaly, Hepatic fibrosis, Cirrhosis, Hepatic steatosis OMIM:243910
Tubulointerstitial Nephritis And Uveitis Syndrome
Aminoaciduria, Chorioretinal scar, Elevated circulating creatinine concentration, Myalgia, Vitreo... ORPHA:91500
Autoinflammatory Disease, Systemic, With Vasculitis
Failure to thrive, Cardiomegaly, Arthralgia, Fatigue, Abdominal pain, Small vessel vasculitis OMIM:620376
Aromatase Deficiency
Hyperlipidemia, Hepatic steatosis ORPHA:91
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypocholesterolemia, Hepatic steatosis, S... OMIM:270400
Thyroid Ectopia
Macroglossia, Fatigue, Umbilical hernia ORPHA:95712
Sarcoidosis
Chest pain, Portal hypertension, Arrhythmia, Weight loss, Abnormal cardiac ventricular function, ... ORPHA:797
Generalized Glucocorticoid Resistance Syndrome
Fatigue, Hypertension, Hypoglycemia ORPHA:786
Aicardi-Goutières Syndrome
Hypertrophic cardiomyopathy, Multiple joint contractures, Cardiomegaly, Myositis, Chronic lymphat... ORPHA:51
Cartilage-Hair Hypoplasia
Failure to thrive, Cardiomyopathy, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal... ORPHA:175
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Failure to thrive, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Mitral regurgitation, Pa... OMIM:617506
Primary Biliary Cholangitis
Fatigue, Portal hypertension, Orthostatic hypotension, Hepatocellular carcinoma ORPHA:186
16P11.2P12.2 Microdeletion Syndrome
Tricuspid regurgitation, Arrhythmia, Camptodactyly of finger ORPHA:261211
Cantú Syndrome
Hypertrophic cardiomyopathy, Cardiomegaly, Abnormal heart valve morphology, Umbilical hernia ORPHA:1517
Holt-Oram Syndrome
Atrioventricular dissociation, Mitral regurgitation, Hypoplasia of deltoid muscle, Mitral valve p... OMIM:142900
Colchicine Poisoning
Hypotension, Cardiogenic shock, Congestive heart failure, Arrhythmia, Myocarditis, Hypovolemia ORPHA:31824
Hereditary Spherocytosis
Chills, Abdominal pain, Restrictive cardiomyopathy, Myalgia ORPHA:822
Hereditary Elliptocytosis
Abdominal pain, Exercise intolerance, Fatigue, Chills ORPHA:288
Mgat2-Cdg
Failure to thrive, Abnormal heart morphology, Ventricular septal defect, Arrhythmia, Reflex asyst... ORPHA:79329
Loeys-Dietz Syndrome 3
Aortic regurgitation, Ventricular hypertrophy, Umbilical hernia, Sudden death, Atrophic scars, Cy... OMIM:613795
17Q11 Microdeletion Syndrome
Glioma, Neurofibrosarcoma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Abnorma... ORPHA:97685
Familial Hypocalciuric Hypercalcemia
Lipoma, Chondrocalcinosis, Episodic abdominal pain, Fatigue ORPHA:405
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
1P36 Deletion Syndrome
Dilated cardiomyopathy, Annular pancreas, Abnormal heart valve morphology, Abnormality of the spl... ORPHA:1606
Koolen-De Vries Syndrome Due To A Point Mutation
Cardiomyopathy, Abnormal heart morphology, Slender build, Hand muscle atrophy, Ventricular septal... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Cardiomyopathy, Abnormal heart morphology, Slender build, Hand muscle atrophy, Ventricular septal... ORPHA:363958
Aregenerative Anemia
Fatigue ORPHA:101096
Foodborne Botulism
Abdominal pain, Arrhythmia ORPHA:228371
Pagod Syndrome
Hypoplastic left heart, Situs inversus totalis, Congenital diaphragmatic hernia, Arrhythmia, Omph... ORPHA:991
Bardet-Biedl Syndrome
Insulin resistance, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Sk... ORPHA:110
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Arrhythmia, Back pain, Enthesitis OMIM:106300
Witteveen-Kolk Syndrome
Obesity, Type II diabetes mellitus, Congenital diaphragmatic hernia, Inguinal hernia, Fatigue, Co... OMIM:613406
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Weight loss, Fatigue ORPHA:309031
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Muscular dystrophy, Flexion contracture OMIM:613154
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ossifying fibroma, Neurofibrosarcoma, Abnormal heart morphology, Hypertrophic cardiomyopathy, Sch... ORPHA:363700
Microphthalmia With Linear Skin Defects Syndrome
Dilated cardiomyopathy, Failure to thrive, Hypertrophic cardiomyopathy, Tricuspid regurgitation, ... ORPHA:2556
Loeys-Dietz Syndrome 1
Hypoplasia of the musculature, Inguinal hernia, Mitral valve prolapse, Self-healing squamous epit... OMIM:609192
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Mitral valve prolapse, Ventricular... OMIM:609942
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Cholestasis, Hepatosplenomegaly, Reduced subcutaneous adipose tissue, Hip contracture, Ventricula... OMIM:619503
Simpson-Golabi-Behmel Syndrome, Type 1
Total anomalous pulmonary venous return, Cardiomyopathy, Umbilical hernia, Birth length greater t... OMIM:312870
Dehydrated Hereditary Stomatocytosis
Abdominal pain, Pulmonary venous hypertension, Episodic fatigue ORPHA:3202
Kufor-Rakeb Syndrome
Leg muscle stiffness, Fatigue, Hypomimic face, Urinary incontinence, Bowel incontinence ORPHA:306674
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Systemic Lupus Erythematosus
Malaise, Fatigue, Weight loss, Raynaud phenomenon, Hypertension ORPHA:536
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Slender build, Abnormal subcutaneous fat ti... ORPHA:1328
Primary Fanconi Renotubular Syndrome
Generalized aminoaciduria, Glycosuria, Hypoglycemia ORPHA:3337
Leptospirosis
Hypotension, Pulmonary hemorrhage, Myalgia, Rhabdomyolysis, Arrhythmia, Arthralgia, First degree ... ORPHA:509
Lymphedema-Distichiasis Syndrome
Tetralogy of Fallot, Arrhythmia, Cellulitis, Ventricular septal defect OMIM:153400
Wiedemann-Rautenstrauch Syndrome
Increased subcutaneous truncal adipose tissue, Camptodactyly of finger, Congenital malformation o... ORPHA:3455
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Endocardial fibroelastosis, Mitral regurgitation, Cardiomyopathy OMIM:226100
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Weight loss, Fatigue, Abnormality of the extraocular muscles ORPHA:79078
Glycogen Storage Disease Xii
Increased variability in muscle fiber diameter, Muscle fiber splitting, Myopathy OMIM:611881
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Subdural hemorrhage, Cardiomyopathy, Enamel hypoplasia, Retinal hemorrha... ORPHA:90324
Neurooculorenal Syndrome
Recurrent hypoglycemia, Tetralogy of Fallot with pulmonary stenosis, Patent foramen ovale, Mitral... OMIM:620305
Noonan Syndrome
Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal pulmonary v... ORPHA:648
Leopard Syndrome 1
Third degree atrioventricular block, Hypertrophic cardiomyopathy, Bundle branch block, Complete a... OMIM:151100
Familial Mediterranean Fever
Vasculitis, Chest pain, Myalgia, Low back pain, Arrhythmia, Arthralgia, Abdominal pain, Myocardia... ORPHA:342
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Hypotension, Neonatal hypoglycemia, Hypovolemia ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Hypotension, Neonatal hypoglycemia, Hypovolemia ORPHA:289548
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Non-Acquired Panhypopituitarism
Hypotension, Fatigue, Hypoglycemia ORPHA:90695
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy, Ocular pain ORPHA:68
Cockayne Syndrome A
Atypical scarring of skin, Failure to thrive, Loss of facial adipose tissue, Reduced subcutaneous... OMIM:216400
Toriello-Carey Syndrome
Tetralogy of Fallot, Cardiomyopathy, Abnormal cardiac septum morphology, Pulmonic stenosis ORPHA:3338
Williams Syndrome
Type II diabetes mellitus, Mitral regurgitation, Myopathy, Ventricular septal defect, Mitral valv... ORPHA:904
Cockayne Syndrome B
Atypical scarring of skin, Failure to thrive, Loss of facial adipose tissue, Reduced subcutaneous... OMIM:133540
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Weight loss OMIM:613673
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Arthralgia, Fatigue ORPHA:562639
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Zimmermann-Laband Syndrome 1
Gingival fibromatosis, Cardiomyopathy, Umbilical hernia OMIM:135500
Autosomal Dominant Hypocalcemia
Hypotension, Arrhythmia, Abdominal pain, Congestive heart failure ORPHA:428
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Slender build, Mitral valve prolapse,... ORPHA:828
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Interphalangeal joint contracture of finger, Hypertrophic cardiomyopathy, Large for gestational a... ORPHA:96334
Oculodentodigital Dysplasia
Atrial septal defect, Enamel hypoplasia, Joint contracture of the 5th finger, Arrhythmia OMIM:164200
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abdominal pain, Arrhythmia, Arthrogryposis multiplex congenita ORPHA:163746
Digeorge Syndrome
Cholelithiasis, Tetralogy of Fallot, Splenomegaly, Hepatic steatosis, Ventricular septal defect, ... OMIM:188400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Neonatal hypoglycemia ORPHA:457359
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Portal hypertension, Hypomimic face ORPHA:309854
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Combined Pituitary Hormone Deficiencies, Genetic Forms
Hypotension, Fatigue, Hypoglycemia ORPHA:95494
Goodpasture Syndrome
Chest pain, Pulmonary hemorrhage, Weight loss, Fatigue, Chills OMIM:233450
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Yunis-Varon Syndrome
Cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Cardiomegaly, Severe failure to t... ORPHA:3472
Holoprosencephaly 1
Hypoglycemia, Single ventricle OMIM:236100
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
Choreoacanthocytosis
Peroneal muscle atrophy, Dilated cardiomyopathy, Distal amyotrophy, Muscle fiber atrophy, Myopath... ORPHA:2388
Specc1L-Related Hypertelorism Syndrome
Umbilical hernia, Tetralogy of Fallot, Ventricular septal defect, Arrhythmia, Atrial septal defec... ORPHA:1519
Alström Syndrome
Hepatosplenomegaly, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatosis, Cirrhosis, He... ORPHA:64
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Camptodactyly, Joint contracture of the hand, Hypertension, Hypoglycemia OMIM:201750
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Hypotension, Neonatal hypoglycemia, Hypovolemia ORPHA:90794
Ivic Syndrome
Arrhythmia ORPHA:2307
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Congestive heart failure, Muscle fiber atrophy... OMIM:182250
Ulnar-Mammary Syndrome
Elbow flexion contracture, Obesity, Inguinal hernia, Ventricular septal defect, Arrhythmia OMIM:181450
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Atypical scarring of skin, Myalgia, Fatigue, Vulvodynia ORPHA:95455
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Failure to thrive in infancy, Hypertrophic c... OMIM:163950
Sotos Syndrome
Ankle flexion contracture, Umbilical hernia, Abnormal heart morphology, Inguinal hernia, Hip cont... ORPHA:821
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrial septal defect OMIM:250220
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Neoplasm, Atrial septal defect, Cardiomyopathy ORPHA:480880
Yunis-Varon Syndrome
Cardiomyopathy, Failure to thrive in infancy, Tetralogy of Fallot, Patent foramen ovale, Ventricu... OMIM:216340
Pmm2-Cdg
Insulin resistance, Failure to thrive, Hypertrophic cardiomyopathy, Hyperinsulinemia, Multiple jo... ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Acadvl

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Acadvl.

No publications found that use IMPC mice or data for Acadvl.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Acadvlem2(IMPC)H Indel Mice
Acadvltm448743(Ifitm2_intron_L1L2_GT1_LF2A_LacZ_BetactP_neo) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Acadvltm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Acadvlem1(IMPC)H Indel Mice

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