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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
decreased fasting circulating glucose level Acadvlem1(IMPC)H HOM Early adult 1.76×10-07
impaired glucose tolerance Acadvlem1(IMPC)H HOM   Early adult 5.76×10-07

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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
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Car... OMIM:201475
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, S... 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
Microvesicular hepatic steatosis, Hypertrophic cardiomyopathy, Elevated circulating alanine amino... 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
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young OMIM:613370
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Hypertriglyceridemia, Transient Infantile
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Hepatic fibrosis... OMIM:614480
Type 2 Diabetes Mellitus
Insulin resistance, Type II diabetes mellitus OMIM:125853
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Myalgia, Muscle fiber cytoplasmat... OMIM:609200
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ... OMIM:619477
Exercise Intolerance, Riboflavin-Responsive
Exercise intolerance, Ragged-red muscle fibers OMIM:616839
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:619048
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Decreased... OMIM:616829
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:610021
Cardiomyopathy, Familial Hypertrophic, 3
Hypertrophic cardiomyopathy, Sudden cardiac death OMIM:115196
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hypoglycemia, Hepatomegaly OMIM:609016
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Cardiac Conduction Defect
Arrhythmia, Syncope, Sudden death OMIM:115080
Mitochondrial Myopathy With Diabetes
Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyo... OMIM:500002
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Glycogen Storage Disease Vi
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hypercholester... OMIM:232700
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Sudden death, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Distal Myopathy With Posterior Leg And Anterior Hand Involvement
Intrinsic hand muscle atrophy, Cardiomyopathy, Proximal muscle weakness in lower limbs, Exercise-... ORPHA:63273
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Abnormal morphology of the chordae tendi... ORPHA:75566
Myofibrillar Myopathy 11
Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy... OMIM:619178
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Cardiomyopathy, Myopathy... ORPHA:603
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
First degree atrioventricular block, Peroneal muscle atrophy, Limb-girdle muscle weakness, Decrea... OMIM:181350
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Fatigue, Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased vari... OMIM:253601
Mt-Atp6-Related Mitochondrial Spastic Paraplegia
Diabetes mellitus, Supraventricular arrhythmia, Cardiomyopathy, Leg muscle stiffness, Distal lowe... ORPHA:320360
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevat... OMIM:615158
Muscle Filaminopathy
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Left ventricular diastolic dys... ORPHA:171445
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hepatic failure, Hepatic steatosis, Hypoglycemia OMIM:261650
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring cont... OMIM:300696
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Fatigue, Exercise intolerance, Increased adipose tissue, Congestive heart failure, Dilated cardio... ORPHA:1349
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiac arres... OMIM:212138
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Neutral Lipid Storage Disease With Myopathy
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Increased muscle lipid content... OMIM:610717
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Plin1-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipoatrophy, L... ORPHA:280356
Mitochondrial Complex Iv Deficiency, Nuclear Type 9
Hypertrophic cardiomyopathy, Cardiomyocyte mitochondrial proliferation OMIM:616500
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Diabetes mellitus, Lipoatrophy, Insulin resistance, Hyperinsulinemia, Hypertension,... ORPHA:79084
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Myopathy, Vacuolar, With Casq1 Aggregates
Myalgia, Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Adiposis Dolorosa
Fatigue, Painful subcutaneous lipomas, Chronic pain, Obesity, Arthralgia OMIM:103200
Muscular Dystrophy, Becker Type
Abnormal EKG, Calf muscle pseudohypertrophy, Cardiomyopathy, Myalgia, Muscular dystrophy, Arrhythmia OMIM:300376
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Portal inflammation, Elevated circulating alanine aminotransferase concentr... OMIM:603471
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Syncope, Palpitations, Ventricular arrhyt... OMIM:610476
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Ketotic hypoglycemia, Maternal diabetes, Reactive hypoglycemia, Maturi... ORPHA:324575
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Hypertrophic cardiomyopathy, Autophagic vacuoles OMIM:609500
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Left atrial enlargement,... OMIM:160500
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Lipodystrophy, Familial Partial, Type 4
Lipodystrophy, Lipoatrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Skeletal mus... OMIM:613877
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m... OMIM:615418
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Exercise intolerance, Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial p... OMIM:616209
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Increased connective tissu... OMIM:601954
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Hemochromatosis, Type 4
Fatigue, Diabetes mellitus, Impaired glucose tolerance, Cardiomyopathy, Glucose intolerance, Arth... OMIM:606069
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Combined Oxidative Phosphorylation Deficiency 28
Fatigue, Congestive heart failure, Ragged-red muscle fibers, Abdominal pain OMIM:616794
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Familial Atrial Fibrillation
Exercise intolerance, Fatigue, Atrial fibrillation, Myocardial infarction, Syncope, Chest pain, P... ORPHA:334
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... OMIM:619566
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Glycogen Storage Disease 0, Muscle
Exercise intolerance, Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy,... OMIM:611556
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated hepatic transaminase, Hepatic steatosis OMIM:618400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Congenital Glucokinase-Related Hyperinsulinism
Fatigue, Fasting hyperinsulinemia, Recurrent hypoglycemia, Type II diabetes mellitus, Hyperinsuli... ORPHA:79299
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Hypoglycemic seizures, Syncope, P... ORPHA:276580
Cardiomyopathy, Familial Hypertrophic, 28
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Myocardial late gadolinium en... OMIM:619402
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Heart block, Limb-girdle muscle weakness, Weakness of lo... ORPHA:98912
Cardiomyopathy, Familial Hypertrophic, 9
Hypertrophic cardiomyopathy OMIM:613765
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Arrhythmia, Sudden cardiac death OMIM:212500
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Myopathy, Myofibrillar, 1
Facial palsy, Dilated cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular... OMIM:601419
Propionic Acidemia
Cardiomyopathy, Arrhythmia, Hypoglycemia, Hepatomegaly ORPHA:35
Lipodystrophy, Familial Partial, Type 3
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Lipodystrophy,... OMIM:604367
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske... OMIM:619733
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Gastrocnemius myalgia, Ragged-red muscle fibers, Increas... ORPHA:276435
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Reactive hypoglycemia, Hypoglycemic seizures, Recurrent hypoglycemia, ... ORPHA:276556
Mantle Cell Lymphoma
Fatigue, B-cell lymphoma, Weight loss ORPHA:52416
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Increased variability in muscle fiber diameter, Bradycardia, Weakness of facial musculature, Incr... OMIM:620265
Ataxia, Deafness, And Cardiomyopathy
Cardiomyopathy OMIM:208750
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Hypoglycemic seizures, Syncope, Palpitations, Fastin... ORPHA:276575
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Exercise intolerance, Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal... ORPHA:457050
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Dilated cardiomyopathy, Abnorm... ORPHA:168796
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Left ventricular outflow tract obstruction, Systolic anterior motion of the... OMIM:620236
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Cholesteryl Ester Storage Disease
Acute hepatic failure, Hepatic fibrosis, Elevated gamma-glutamyltransferase level, Hepatic steato... OMIM:278000
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia, Prolonged neonatal jaundice OMIM:262400
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Splenomegaly... OMIM:612526
Polymyositis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Abnormal atrioventricular conduction, Myocard... ORPHA:732
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Exercise intolerance, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy, Supraventri... OMIM:255100
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetric septal ... OMIM:608758
Congenital Disorder Of Glycosylation, Type Iir
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Micronodular cirrhosis, Decreased liver fu... OMIM:301045
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle mass, Decreased muscle glycogen content, Diabetes melli... ORPHA:263297
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Fatigue, Exercise intolerance, Diabetes mellitus, Ragged-red muscle fibers, Limb muscle weakness,... OMIM:609286
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Left bundle branch block, Asy... OMIM:613838
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy, Sudden death, Abnormal le... OMIM:605362
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Elevated jugular venous pressure, Muscle fiber hyaline bodies, Centrally nu... OMIM:255160
Diarrhea 13
Elevated hepatic transaminase, Hepatic steatosis OMIM:620357
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Atrial Standstill 1
Ventricular escape rhythm, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, First degree at... OMIM:108770
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Fatigue, Tachycardia, Reactive hypoglycemia, Hyperinsulinemia, Increased body weight, Fasting hyp... ORPHA:276608
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy, Hypoglycemia ORPHA:366
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Absent P wave, First degree atrioventricular block, Sudden cardiac death... OMIM:310300
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98855
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Cardiomyopathy, Amyotrophy o... ORPHA:399086
3-Methylglutaconic Aciduria Type 1
Hepatomegaly, Hypoglycemia ORPHA:67046
Lipodystrophy, Partial, Acquired, Susceptibility To
Diabetes mellitus, Progressive loss of facial adipose tissue, Loss of truncal subcutaneous adipos... OMIM:608709
Cardiomyopathy, Dilated, 1X
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Calf muscle hypertrophy,... OMIM:611615
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Coronary Artery Disease, Autosomal Dominant, 1
Diabetes mellitus, Myocardial infarction, Obesity, Hypertension, Chest pain OMIM:608320
Insulin Autoimmune Syndrome
Nonketotic hypoglycemia, Reactive hypoglycemia, Insulin-resistant diabetes mellitus, Insulin resi... ORPHA:411593
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Hypertrophic cardiomyopathy ORPHA:79281
Acquired Partial Lipodystrophy
Myopathy, Insulin resistance, Hepatic steatosis, Lipoatrophy ORPHA:79087
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Macrophagic Myofasciitis
Fatigue, Arthralgia, Myalgia ORPHA:592
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter, Increased left ventricular end-diastolic volume, ... OMIM:302045
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Fatigue, Arthrogryposis multiplex congenita, Failure to thrive OMIM:616326
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Dilated cardiomyopathy, Flexion contracture, Increased variability in muscle fiber diameter, Musc... OMIM:300718
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Diabetes mellitus, Lipodystrophy, Insulin resistance,... OMIM:615980
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive heart failure, Increased va... OMIM:618654
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98853
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal fibrosis, Hepatic fibrosis, Cir... ORPHA:369
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Hypoglycemia, Glycogen accumulation in muscle fiber lysosomes, Quadricep... OMIM:300559
Supravalvular Aortic Stenosis
Arrhythmia, Supravalvular aortic stenosis ORPHA:3193
Glycogen Storage Disease Iii
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Hypoglycemia, Cardiomyopath... OMIM:232400
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Distal lower limb muscle weakness... OMIM:619903
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Neonatal hypoglycemia, Hypoglycemia, Hypoinsulinemia, Fasting hypoglycemia OMIM:240900
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Muscular Dystrophy, Cardiac Type
Cardiomyopathy, Abnormal EKG, Muscular dystrophy, Carnosinuria OMIM:309930
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-g... OMIM:616812
Morbid Obesity And Spermatogenic Failure
Myocardial infarction, Congestive heart failure, Insulin resistance, Hypertension, Type II diabet... OMIM:615703
Endocardial Fibroelastosis
Congestive heart failure, Hypoglycemia, Restrictive cardiomyopathy, Endocardial fibroelastosis ORPHA:2022
Merrf
Myopathy, Ragged-red muscle fibers, Multiple lipomas ORPHA:551
Dpm3-Cdg
Dilated cardiomyopathy, Calf muscle hypertrophy, Chest pain, Muscular dystrophy, Pelvic girdle mu... ORPHA:263494
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:147630
Tuberculosis
Fatigue, Weight loss ORPHA:3389
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... ORPHA:171706
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Dietary Iron Overload Disease
Viral hepatitis, Hepatomegaly, Hepatocellular carcinoma, Micronodular cirrhosis, Peritonitis, Abn... ORPHA:139507
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Sudden death, Mitral valve prolapse, Left ventricular hyp... OMIM:614676
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity, Maturity-onset diabetes of the young OMIM:613375
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Sudden death, Asymmetric septal hypertrophy, Subvalvular aortic stenosi... OMIM:192600
Rhabdomyolysis, Susceptibility To, 1
Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f... OMIM:620235
Rotor Syndrome
Abnormal circulating enzyme concentration or activity, Jaundice, Storage in hepatocytes, Intermit... ORPHA:3111
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 18
Paroxysmal atrial fibrillation, Atrial fibrillation, Chest pain, Left ventricular hypertrophy, Hy... OMIM:613874
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef... OMIM:613642
Combined Oxidative Phosphorylation Deficiency 52
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:619386
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Short Stature Due To Ghsr Deficiency
Hypoglycemia ORPHA:314811
Combined Oxidative Phosphorylation Deficiency 44
Hypertrophic cardiomyopathy OMIM:618855
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Idiopathic Neonatal Atrial Flutter
Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Large for gestational age,... ORPHA:45452
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Hypoglycemia, Cardiomegaly, Ventricular tachyca... OMIM:601005
Combined Oxidative Phosphorylation Deficiency 9
Hepatic steatosis, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Atrioventricular block, Decreased cervical spine flexion due to contractures of poster... ORPHA:98863
Undifferentiated Pleomorphic Sarcoma
Fatigue, Soft tissue sarcoma, Weight loss ORPHA:2023
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Exercise intolerance, Cardiomegaly, Congesti... OMIM:300257
D-2-Hydroxyglutaric Aciduria 2
Cardiomyopathy OMIM:613657
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Neonatal Hemochromatosis
Congenital hepatic fibrosis, Hypoglycemia, Prolonged neonatal jaundice ORPHA:446
Maturity-Onset Diabetes Of The Young, Type 14
Diabetes mellitus, Maturity-onset diabetes of the young OMIM:616511
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle weakness, Cardiomy... ORPHA:86812
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia, Generalized aminoaciduria OMIM:606528
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Hypoglycemia, Leucine-Induced
Hypoglycemia, Hyperinsulinemic hypoglycemia OMIM:240800
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Dilated cardiomyopathy, Ventricular ta... OMIM:600649
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Fatigue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased vari... OMIM:613157
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Lipodystrophy, Sudden cardiac death, Cardi... ORPHA:300751
Childhood-Onset Nemaline Myopathy
Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene... ORPHA:171439
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Pontiac Fever
Fatigue, Myalgia ORPHA:99748
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Carnitine Palmitoyl Transferase 1A Deficiency
Fatigue, Skeletal muscle atrophy, Hypoglycemia, Sudden cardiac death, Arrhythmia, Hypertrophic ca... ORPHA:156
Lipe-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Proximal muscle weakness in upper limbs, Hepatomega... ORPHA:435660
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Exercise intolerance, Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Cardi... OMIM:615352
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Idiopathic/Heritable Pulmonary Arterial Hypertension
Fatigue, Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ... ORPHA:422
Combined Oxidative Phosphorylation Deficiency 34
Hepatomegaly, Hypoglycemia, Elevated circulating creatinine concentration, Hepatic failure, Hepat... OMIM:617872
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Dilated cardiomyopathy, Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle... OMIM:612937
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Alaninuria, Bradycardia, Decreased liver function, Pulmonary arter... OMIM:616299
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Takayasu Arteritis
Abnormal endocardium morphology, Fatigue, Gangrene, Abnormal heart valve morphology, Myocardial i... ORPHA:3287
Pparg-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Calf muscle pseudohypertrophy, Diabet... ORPHA:79083
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Hypertrophic cardiomyopathy, Bradycardia, Cardiac arrest OMIM:618235
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome OMIM:607487
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Dilated cardiomyopathy, Abnormality of the calf musculature, Proximal mu... ORPHA:59135
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Glycogen Storage Disease Ixb
Hepatomegaly, Hypoglycemia, Splenomegaly, Increased muscle glycogen content, Increased hepatic gl... OMIM:261750
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Short Chain Acyl-Coa Dehydrogenase Deficiency
Cardiomyopathy, Hepatic steatosis, Myopathy, Ketotic hypoglycemia ORPHA:26792
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Ventricular septal... OMIM:612124
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Left Ventricular Noncompaction 7
Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy OMIM:615092
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Dilated cardiomyopathy, Upper limb muscle we... ORPHA:171442
Congenital Myopathy 24
Scapular winging, Facial palsy, First degree atrioventricular block, Cardiomyopathy, Type 1 muscl... OMIM:617336
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Pituitary Hormone Deficiency, Combined, 4
Hypoglycemia OMIM:262700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Cardiomegaly, Conges... OMIM:212140
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis ORPHA:436182
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating aspartate aminotransferase conc... OMIM:255120
Familial Partial Lipodystrophy, Dunnigan Type
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Lipodystrophy, Lip... ORPHA:2348
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Impaired glucose tolerance, Type II diabetes mellitus OMIM:610947
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Dilated cardiomyopathy, Calf muscle hypertrophy, Shoulde... ORPHA:34515
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentra... OMIM:605814
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Wolff-Parkinson-White syndrome, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Combined Oxidative Phosphorylation Deficiency 10
Hypoglycemia, Cardiomegaly, Pericardial effusion, Bradycardia, Hypertrophic cardiomyopathy OMIM:614702
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Hepatomegaly, Reduced intraabdominal adipose tissue, Insulin... ORPHA:363400
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Exercise intolerance, EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Flexion contracture, Bradycardia OMIM:618815
Cidec-Related Familial Partial Lipodystrophy
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Lipodystrophy, Insulin-resistant diab... ORPHA:435651
Sengers Syndrome
Fatigue, Exercise intolerance, Cardiac arrest, Sudden cardiac death, Myopathy, Pulmonary arterial... OMIM:212350
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Fatigue, Skeletal muscle atrophy, Tachycardia, Exercise intolerance, Glycogen accumulation in mus... ORPHA:368
Bile Acid Malabsorption, Primary, 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:619481
Idiopathic Copper-Associated Cirrhosis
Hepatic steatosis, Copper accumulation in liver, Cirrhosis ORPHA:209919
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Dihydrolipoamide Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Decreased liver function, Hypertrophic... OMIM:246900
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Dilated cardiomyopathy, Myopathy, Type 1 fibers relatively smaller than type 2 fibe... OMIM:300580
Lipodystrophy, Familial Partial, Type 1
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Lipodystrophy, In... OMIM:608600
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Nonketotic hypoglycemia, Hypoglycemic seizures, Increased hepatic glycogen content, Neonatal hypo... ORPHA:293964
Lipodystrophy, Familial Partial, Type 2
Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Acute pancreatitis, Reduced subcutane... OMIM:151660
Nathalie Syndrome
Arrhythmia ORPHA:2663
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Scapuloperoneal amyotrophy, Dilated ca... ORPHA:206559
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Slender build, Quadriceps muscle weakness, Achilles te... OMIM:620389
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Multiple Symmetric Lipomatosis
Multiple lipomas, Insulin resistance, Arthralgia, Abnormal adipose tissue morphology ORPHA:2398
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... ORPHA:3282
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Myalgia, Muscular dystrophy, ... OMIM:603511
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Atrial fibrillation, Reduced left vent... OMIM:613876
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Impaired glucose tolerance, Atrioventricular block, Glucose intolerance, Joint contracture of the... OMIM:614407
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Cardiomyopathy, Myofibrillar myopathy, EMG: myopathic abnormalities, Muscle ... OMIM:609452
Giant Axonal Neuropathy 2, Autosomal Dominant
Cardiomyopathy, Distal amyotrophy OMIM:610100
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy... OMIM:613286
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Biliary hyperplasia, Splenomega... ORPHA:567983
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy, Arrhythmia OMIM:310095
Obesity Due To Melanocortin 4 Receptor Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypertension, Type II diabetes mellitus, Chi... ORPHA:71529
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Slender build, Thenar muscle atrophy, Fat... OMIM:256030
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Dilated cardiomyopathy, Arrhythmia, Hypertrophic cardiomyopathy, Failur... OMIM:616198
Insulinoma
Fatigue, Nonketotic hypoglycemia, Reactive hypoglycemia, Fasting hyperinsulinemia, Hyperinsulinem... ORPHA:97279
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
3-Methylglutaconic Aciduria Type 4
Cardiomyopathy, Hypoglycemia, Decreased liver function ORPHA:67048
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy, Asymmetric septal hypertrophy OMIM:212130
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Fatigue, Atrial fibrillation, Sudden cardiac death, Congestive h... ORPHA:1880
Creatine Phosphokinase, Elevated Serum
Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys... OMIM:123320
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Scarring, Atrial standstill, Dilatation of the ventricular ... OMIM:615745
Mucolipidosis Type Iii
Abnormal heart valve morphology, Inguinal hernia, Abnormal aortic valve morphology, Fatigue ORPHA:577
Dicarboxylic Aminoaciduria
Aminoaciduria, Aspartic aciduria, Fasting hypoglycemia OMIM:222730
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Cardiomyopathy, Failure to thrive OMIM:619651
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diffuse hep... OMIM:264470
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Reduced systolic function, Increased connective tissue, Dilated cardiomy... OMIM:616827
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Limb muscle weakness, Nemaline bodies, Global systolic dysfunction OMIM:606842
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Myopathy, Centronuclear, 4
Exercise intolerance, Myalgia, Type 1 muscle fiber predominance, Centrally nucleated skeletal mus... OMIM:614807
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Right ventricular dilatation, Fixed ... ORPHA:99106
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Fatigue, B-cell lymphoma, Lymphoma, Breast carcinoma, Weight loss ORPHA:86893
Hemochromatosis, Neonatal
Hypoglycemia, Cholestasis, Hepatocellular necrosis, Hepatic fibrosis, Cirrhosis, Prolonged neonat... OMIM:231100
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Cardiomyopathy, Hypertrophic cardiomyopathy, Hepatic steatosis OMIM:615119
Autosomal Dominant Optic Atrophy Plus Syndrome
Fatigue, Diabetes mellitus, Limb-girdle muscle weakness, Myopathy, Cardiomyopathy ORPHA:1215
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Cardiomyopathy, Type... ORPHA:171433
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase concentration... OMIM:618805
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Cardiomegaly,... ORPHA:42
Congenital Gerbode Defect
Fatigue, Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left... ORPHA:99095
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged... OMIM:616228
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Dilated cardiomyopathy, Hepatic necrosis, Decreased 3-hydroxyacyl-CoA ... OMIM:231530
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Pulmonary Hypertension, Primary, 5
Fatigue, Angina pectoris, Right ventricular failure, Syncope, Pulmonary arterial hypertension, Ri... OMIM:265400
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Hepatomegaly, Elevated alkaline phosphatase of bone origin, Spleno... OMIM:616828
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle, Bradycardia OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Concentric hypertrophic cardiomyopathy, Biventricular hyper... OMIM:613243
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Ornithine Transcarbamylase Deficiency
Splenomegaly, Aminoaciduria, Hepatic failure, Hypoglycemia ORPHA:664
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hypertrophic cardiomyopathy, Obesity OMIM:620270
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Elevated hepatic transaminase, Hepatomegaly, Loss of subcutaneous adipose tissue in limbs, Diabet... OMIM:615381
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Abnormal EKG, Diabetes mellitus, Cardiomyopathy, Lower limb hypertonia, Generalized amyotrophy, L... ORPHA:1177
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced... OMIM:160565
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Exercise intolerance, Ragged-red muscle fibers, Dilated cardiomyopathy, Flexion contracture, Left... OMIM:252011
Tremor, Hereditary Essential, 2
Fatigue OMIM:602134
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Fatigue, Failure to thrive ORPHA:79283
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo... OMIM:620138
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Hepatitis, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Ma... ORPHA:209902
Glycogen Storage Disease Ixc
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly, Bile duct proliferation,... OMIM:613027
Maternally-Inherited Diabetes And Deafness
Congestive heart failure, Hypertension, Myalgia, Type II diabetes mellitus, Arrhythmia, Hypertrop... ORPHA:225
Glycogen Storage Disease Of Heart, Lethal Congenital
Prolonged QRS complex, Left axis deviation, Cardiomegaly, Congestive heart failure, ST segment el... OMIM:261740
Eosinophilic Fasciitis
Fatigue, Myositis, Fasciitis, Weight loss, Arthralgia, Myalgia, Cellulitis, Muscular edema ORPHA:3165
Akt2-Related Familial Partial Lipodystrophy
Hepatomegaly, Lipodystrophy, Insulin resistance, Insulin-resistant diabetes mellitus, Increased i... ORPHA:79085
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Arrhythmia, Camptodactyly OMIM:618453
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Rhabdomyolysis, Cardiomyopa... ORPHA:228305
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Increased intraabdominal fat, Hepatic steatosis, Muscle hypertrophy of the lower extremities, Hep... ORPHA:280365
Muscular Dystrophy, Limb-Girdle, Type 1H
Increased connective tissue, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy,... OMIM:613530
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Urinary incontine... ORPHA:329478
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Non-Functioning Paraganglioma
Fatigue, Paraganglioma of head and neck, Cerebral hemorrhage, Congestive heart failure, Weight lo... ORPHA:94080
Isobutyryl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Ketotic hypoglycemia, Pulmonic stenosis ORPHA:79159
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Fatigue, Mitral valve prolapse, Arthralgia,... ORPHA:230839
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Failure to thrive, Increased variability in muscle fiber diameter OMIM:613752
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hypoglycemia, Elevated circulating alanine aminotransferase concentration, Increase... OMIM:261680
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter... ORPHA:1878
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Hypoplastic left heart, Atrial ... OMIM:615996
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Cardiomegaly, Congestive hea... ORPHA:85451
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal circulating enzyme concentration or activity, Abnormal heart morphology, Decreased liver... ORPHA:70472
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Ventricular septal defect, Elevated cir... OMIM:614921
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi... OMIM:609285
Idiopathic Congenital Hypothyroidism
Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice ORPHA:95717
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Lipodystrophy, Diabetic ketoacidosis, Hypertension, Hepatic steatosis OMIM:615238
Cardiomyopathy, Familial Hypertrophic, 4
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... OMIM:115197
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Combined Oxidative Phosphorylation Deficiency 31
Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased variability ... OMIM:617228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w... ORPHA:353
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi... ORPHA:66529
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
X-Linked Intellectual Disability-Plagiocephaly Syndrome
Bradycardia ORPHA:2898
Proximal Myopathy With Extrapyramidal Signs
Centrally nucleated skeletal muscle fibers, Insulin-resistant diabetes mellitus, Cardiomyopathy, ... ORPHA:401768
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Bardet-Biedl Syndrome 2
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Obesity, Atrial septal defect OMIM:615981
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo... OMIM:608340
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Aapoaiv Amyloidosis
Atrial flutter, Abnormal cardiac ventricular function, Atrial fibrillation, Diabetes mellitus, Ca... ORPHA:439232
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Hypoglycemia OMIM:610090
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Abnormal ... ORPHA:99103
Congenital Generalized Lipodystrophy
Hepatomegaly, Diabetes mellitus, Lipodystrophy, Congestive heart failure, Adipose tissue loss, In... ORPHA:528
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Nonketotic hypoglycemia, Exercise-induced rhabdomyolysis, Hepatomegaly, Sudden cardiac death, Car... OMIM:201475
Barth Syndrome
Fatigue, Exercise intolerance, Increased left ventricular end-diastolic volume, Tricuspid regurgi... OMIM:302060
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... OMIM:618528
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Macrovesicular ... OMIM:618234
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Exercise intolerance, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Cardiomyopat... ORPHA:329336
Solitary Fibrous Tumor
Fatigue, Low back pain, Hypoglycemia, Vaginal neoplasm, Soft tissue neoplasm, Night sweats, Genit... ORPHA:2126
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Systemic Capillary Leak Syndrome
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Weight loss, Myalgia, Hypotension, Multiple m... ORPHA:188
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Acute pancreatitis, Insulin resistance, Insulin-resi... ORPHA:79086
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Isolated Right Ventricular Hypoplasia
Fatigue, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventr... ORPHA:439
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Congestive h... ORPHA:324604
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Hyperglycinuria, Hepatic steatosis OMIM:201450
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn... ORPHA:75840
Familial Isolated Dilated Cardiomyopathy
Myopathy, Dilated cardiomyopathy, Lipoatrophy ORPHA:154
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Dilated cardiomyopathy, Limb muscle weakness, Type 1 muscle fiber predominance, Art... OMIM:161800
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Exercise intolerance, Ragged-red muscle fibers, Generalized amyotrophy, Hypertrophic cardiomyopat... OMIM:613561
Glycogen Storage Disease Due To Lamp-2 Deficiency
Hypertrophic cardiomyopathy, Dilated cardiomyopathy ORPHA:34587
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Congestive heart failure, Flexion contracture, Myopathy, Arrhy... ORPHA:157973
Methylmalonic Acidemia With Homocystinuria
Fatigue, Failure to thrive ORPHA:26
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Myocardial infarction, Congestive heart failure, Bradycardia, Arrhyth... ORPHA:330001
Mitochondrial Complex I Deficiency, Nuclear Type 29
Fatigue, Exercise intolerance, Abnormal heart morphology, Exercise-induced myalgia, Myalgia, Palp... OMIM:618250
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Aminoacylase 1 Deficiency
Bradycardia OMIM:609924
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred... ORPHA:424107
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Hyperinsulinemic Hypoglycemia, Familial, 8
Atrial septal defect, Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures OMIM:620211
Infantile Liver Failure Syndrome 1
Acute hepatic failure, Hepatomegaly, Hepatic steatosis, Elevated hepatic transaminase OMIM:615438
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Weight loss, Cardiomyopathy, Arrhythmia ORPHA:85447
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:612877
Rheumatic Fever
Fatigue, Pericarditis, Abnormal heart valve morphology, Epistaxis, Abdominal pain, Myocarditis, A... ORPHA:3099
Liddle Syndrome
Fatigue, Hypertension, Arrhythmia, Cerebral ischemia ORPHA:526
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Cardiomyopathy OMIM:619647
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Pyruvate Dehydrogenase E3 Deficiency
Elevated hepatic transaminase, Hepatomegaly, Abnormal cardiac ventricular function, Hypoglycemia,... ORPHA:2394
Mitochondrial Dna Depletion Syndrome 11
Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Dilated cardiomyopathy, Proximal am... OMIM:615084
Epiphyseal Dysplasia, Multiple, 2
Fatigue, Knee pain, Foot pain OMIM:600204
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Flexion contracture, Abnormal left ventricular function, Macroglossia, Cardiomyopat... OMIM:613155
Laryngeal Neuroendocrine Tumor
Chronic fatigue, Neuroendocrine neoplasm, Neoplasm of the larynx, Weight loss ORPHA:100083
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Mitochondrial Complex I Deficiency, Nuclear Type 20
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Microvesicular hepatic ste... OMIM:611126
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Ventricular tachycardia, Myocardial fibrosis, Palpitations,... OMIM:613873
Atrial Fibrillation, Familial, 7
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... OMIM:612240
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Myopathy, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:91130
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 11
Hypoglycemia, Abnormal heart morphology ORPHA:231147
Mitochondrial Pyruvate Carrier Deficiency
Hepatomegaly, Hypoglycemia OMIM:614741
Central Core Disease
Multiple joint contractures, Mitral valve prolapse, Myopathy, Type 1 muscle fiber predominance, P... ORPHA:597
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Congenital Myopathy 4A, Autosomal Dominant
Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Dilated cardiom... OMIM:255310
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Renal neoplasm, Pancreatic adenocarcinoma, Glioblastoma multiforme, ... ORPHA:440437
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Joint contracture, Muscular dystrophy, Generalized amyotrophy, Arrhythmia OMIM:616516
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Combined Oxidative Phosphorylation Deficiency 36
Elevated circulating alanine aminotransferase concentration, Lower limb muscle weakness, Elevated... OMIM:617950
Hypereosinophilic Syndrome, Idiopathic
Myalgia, Restrictive cardiomyopathy, Endocardial fibrosis, Myeloproliferative disorder OMIM:607685
Infantile Liver Failure Syndrome 2
Elevated hepatic transaminase, Acute hepatic failure, Hypoglycemia, Jaundice, Cardiomyopathy OMIM:616483
Cholangiocarcinoma
Fatigue, Abdominal pain ORPHA:70567
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Abdominal pain, Heart block, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Symptomatic Form Of Hfe-Related Hemochromatosis
Fatigue, Decreased muscle mass, Diabetes mellitus, Portal hypertension, Cardiomegaly, Abdominal p... ORPHA:465508
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Necrotizing Enterocolitis
Shock, Peritonitis, Abnormal heart morphology, Bradycardia, Hypotension, Abnormal glucose homeost... ORPHA:391673
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Infantile Liver Failure Syndrome 3
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... OMIM:618641
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... OMIM:255320
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Left ventricular noncompaction cardiomyopathy, Left atrial enlargement, Cardiogenic... OMIM:619424
Spinal Arteriovenous Metameric Syndrome
Fatigue, Congestive heart failure, Cutaneous angiolipomas, Visceral angiomatosis, Bone pain, Arth... ORPHA:53721
Autosomal Recessive Progressive External Ophthalmoplegia
Exercise intolerance, Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fib... ORPHA:254886
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Hypokalemic Periodic Paralysis
Abnormal muscle fiber morphology, Impaired myocardial contractility, Adrenocortical adenoma, Incr... ORPHA:681
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Fatigue, Tachycardia, Large for gestational age, Hyperinsulinemia, Increased body weight, Glycosu... ORPHA:263455
Progressive Familial Heart Block, Type Ii
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... OMIM:140400
Hypertriglyceridemia 1
Glucose intolerance OMIM:145750
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy ORPHA:868
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15
Hypoglycemia, Diastasis recti, Neonatal hypoglycemia ORPHA:231140
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Fatigue, Diabetes mellitus, Small for gestational age, Increased body weight, Type II diabetes me... OMIM:274300
Obesity And Hypopigmentation
Hyperinsulinemia, Hepatic steatosis OMIM:620195
Hyperinsulinemic Hypoglycemia, Familial, 1
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Large for gestational age OMIM:256450
Hypothyroidism, Congenital, Nongoitrous, 7
Fatigue OMIM:618573
Thyroid Hemiagenesis
Fatigue, Macroglossia, Umbilical hernia ORPHA:95719
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoacidur... OMIM:249270
Mitochondrial Complex I Deficiency, Nuclear Type 15
Myopathy, Hypertrophic cardiomyopathy, Flexion contracture, Failure to thrive OMIM:618237
Chylomicron Retention Disease
Elevated hepatic transaminase, Hypertriglyceridemia, Increased hepatocellular lipid droplets, Ste... ORPHA:71
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Exercise intolerance, Skeletal muscle atrophy, Failure to thrive in infancy, Spinal muscular atro... ORPHA:254875
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Facial palsy, Centrally nucleated skeletal muscle fiber... OMIM:602771
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Hypoglycemia, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Diabetic ketoacidosis, Fasti... OMIM:262190
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Rhabdomyolysis, Dilated cardiomyopathy, Hypoglycemia, Ankle flexion contracture OMIM:618120
Cap Myopathy
Reduced systolic function, Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy,... ORPHA:171881
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Fatigue, Left-to-right shunt, Abnormally loud pulmo... ORPHA:99104
Congenital Myopathy 22A, Classic
Fatigue, Hip contracture, Scapular winging, Tricuspid regurgitation, Centrally nucleated skeletal... OMIM:620351
3-Methylglutaconic Aciduria, Type V
Noncompaction cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Micr... OMIM:610198
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers, Third degree atrioventricular block ORPHA:480
Hyperinsulinism-Hyperammonemia Syndrome
Hyperinsulinemic hypoglycemia, Fasting hyperinsulinemia, Reactive hypoglycemia ORPHA:35878
Myopathy, Myofibrillar, 6
Scapular winging, Facial palsy, Restrictive cardiomyopathy, Knee flexion contracture, Hypertrophi... OMIM:612954
Cln3 Disease
Left ventricular hypertrophy, T-wave inversion, Bradycardia ORPHA:228346
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Dystonia 23
Torticollis, Arrhythmia OMIM:614860
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Atrial septal defect, Hypoglycemia, Decreased liver function, Elevated hepatic transaminase OMIM:615160
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia, Abnormal cardiac septum morphology ORPHA:1479
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Abnormal T-wave, Prolonged ... ORPHA:101016
Cardiac Arrhythmia, Ankyrin-B-Related
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope OMIM:600919
Hypotonia-Cystinuria Syndrome
Fatigue, Failure to thrive, Cystinuria ORPHA:163690
Autosomal Dominant Progressive External Ophthalmoplegia
Quadriceps muscle weakness, Ragged-red muscle fibers, Glucose intolerance, Fatigue, Facial palsy,... ORPHA:254892
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased connective tissue, Scarring alopecia of scalp, Motheaten muscle fibers, Muscular dystro... OMIM:226670
Combined Oxidative Phosphorylation Deficiency 19
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Microvesicular hepat... OMIM:615595
Lynch Syndrome
Gastrointestinal hemorrhage, Glioblastoma multiforme, Pancreatic adenocarcinoma, Benign neoplasm ... ORPHA:144
Schnitzler Syndrome
Fatigue, Vasculitis, Bone pain, Lymphoma, Arthralgia, Myalgia ORPHA:37748
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Hepatomegal... ORPHA:264580
Typhoid
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Cardiac arrest, Abdominal pain, Arthralgia, Myal... ORPHA:99745
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Diabetes And Deafness, Maternally Inherited
Cardiomyopathy, Hyperglycemia, Type II diabetes mellitus OMIM:520000
Mitochondrial Complex I Deficiency, Nuclear Type 19
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:618241
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Analbuminemia
Fatigue, Lipodystrophy, Hypotension OMIM:616000
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Incre... OMIM:618484
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic steatosis, Hepatosplenomegaly OMIM:619013
Muscular Dystrophy, Duchenne Type
Abnormal EKG, Calf muscle pseudohypertrophy, Congestive heart failure, Achilles tendon contractur... OMIM:310200
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Limb joint contracture, Bradycardia OMIM:619814
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Cholestatic liver disease, Hypertrophic cardiomyopathy, Hypoketotic h... ORPHA:5
Hemochromatosis, Type 3
Fatigue, Cardiomyopathy OMIM:604250
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated hepatic transaminase, Hepatomegaly, Nonketotic hypoglycemia, Hypoglycemia, Elevated circ... OMIM:608836
Combined Oxidative Phosphorylation Deficiency 17
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive OMIM:615440
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Congestive heart failure, Concentric hypertrop... ORPHA:98909
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Portal hypertension, Splenomegaly, Mic... OMIM:251880
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Acth-Independent Macronodular Adrenal Hyperplasia 2
Fatigue, Increased body weight, Hypertension, Abdominal obesity, Hyperglycemia OMIM:615954
Hsd10 Mitochondrial Disease
Hypertrophic cardiomyopathy, Hypoglycemia OMIM:300438
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Inguinal hernia, Joint contracture, Bradycardia, Limb hypertonia OMIM:614498
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Urinary incontinence, Centrally nucleated skeletal muscl... ORPHA:169189
Fanconi-Bickel Syndrome
Hepatomegaly, Diabetes mellitus, Impaired glucose tolerance, Elevated circulating aspartate amino... ORPHA:2088
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Aminoaciduria, Generalized amyot... OMIM:609560
Combined Oxidative Phosphorylation Deficiency 20
Small for gestational age, Hypertrophic cardiomyopathy, Left ventricular noncompaction OMIM:615917
Follicular Lymphoma
Fatigue, Night sweats, Lymphoma, Weight loss ORPHA:545
Unclassified Myelodysplastic Syndrome
Acute myeloid leukemia, Fatigue, Myelodysplasia, Night sweats, Multiple lineage myelodysplasia ORPHA:98827
Acyl-Coa Dehydrogenase 9 Deficiency
Acute hepatic failure, Elevated hepatic transaminase, Nonketotic hypoglycemia, Sudden cardiac dea... ORPHA:99901
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Limb muscle ... ORPHA:486815
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Cardiomyopathy ORPHA:98896
2P21 Microdeletion Syndrome
Hypoglycemia, Cystinuria ORPHA:163693
Combined Oxidative Phosphorylation Deficiency 33
Fatigue, Exercise intolerance, Cardiac arrest, Cardiomegaly, Cardiomyopathy, Myopathy, Left ventr... OMIM:617713
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension, Chronic fatigue, Pulmonary capillary hemangiomatosis OMIM:234810
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Hypoglycemia, Acute rhabdomyolysis ORPHA:48431
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Shoulder pain, Congestive heart failure, Abnormal tendon morphology,... ORPHA:85446
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Glycogen Storage Disease Ixa1
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Splenomegaly OMIM:306000
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Sarcosinemia
Hypersarcosinuria, Hypertrophic cardiomyopathy, Peroneal muscle weakness, Pulmonic stenosis ORPHA:3129
Acquired Methemoglobinemia
Fatigue, Tachycardia, Abdominal pain, Syncope, Palpitations, Arrhythmia ORPHA:464453
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Joint contracture, Flexion contracture OMIM:608540
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Exercise intolerance, Dilated cardiomyopathy, Ragged-red muscle fibers, Myopathy, Generalized amy... ORPHA:352447
D-Glyceric Aciduria
Aminoaciduria, Hypoglycemia, Bradycardia OMIM:220120
Gracile Syndrome
Hepatic steatosis, Cirrhosis, Cholestasis, Elevated hepatic iron concentration ORPHA:53693
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fatigue, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mus... ORPHA:209335
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular septal defect, S... ORPHA:26793
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Dilated cardiomyopathy, Mitral regur... OMIM:615959
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Combined Oxidative Phosphorylation Deficiency 47
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia OMIM:618958
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Slender build OMIM:613662
Mitochondrial Trifunctional Protein Deficiency
Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Cholestasis, Cardiomyopathy, M... ORPHA:746
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Prolonged QT interval, Acute hepatic failure, Elevated hepatic transaminase, Dilated cardiomyopat... ORPHA:71212
X-Linked Sideroblastic Anemia
Fatigue, Glucose intolerance ORPHA:75563
Hemochromatosis, Type 2A
Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Congestive heart failure OMIM:602390
Mehmo Syndrome
Hypoglycemia OMIM:300148
Wilson Disease
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Jaundice, Hepat... ORPHA:905
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Post... ORPHA:3092
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... OMIM:617114
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice ORPHA:226313
Intellectual Disability And Myopathy Syndrome
Left ventricular systolic dysfunction, Achilles tendon contracture, Fatigue OMIM:619719
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Developmental And Epileptic Encephalopathy 35
Cardiomyopathy OMIM:616647
Sporadic Pheochromocytoma/Secreting Paraganglioma
Fatigue, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Cong... ORPHA:276621
Myopathy, Myofibrillar, 8
Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Mitral... OMIM:617258
Mast Cell Sarcoma
Sarcoma, Fatigue, Weight loss ORPHA:66661
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Cardiomyopathy, Myopathy, Pelvic girdle muscle weakness, Increased varia... ORPHA:119
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Cystinosis
Fatigue, Portal hypertension, Myopathy, Aminoaciduria, Type I diabetes mellitus, Failure to thrive ORPHA:213
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness... ORPHA:353327
Interstitial Lung And Liver Disease
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:615486
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Refractory Anemia
Fatigue, Abnormal cardiac ventricular function, Single lineage myelodysplasia, Myelodysplasia ORPHA:98826
Al Amyloidosis
Gastrointestinal hemorrhage, Abnormal EKG, Fatigue, Abnormal cardiac ventricle morphology, Jaw cl... ORPHA:85443
Hypermethioninemia Due To Adenosine Kinase Deficiency
Secundum atrial septal defect, Elevated circulating alanine aminotransferase concentration, Chole... OMIM:614300
Infant Acute Respiratory Distress Syndrome
Tachycardia, Bradycardia, Cardiac arrest, Hypotension ORPHA:70587
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Rhabdomyolysis, Ventricular tachycardia, Cardiomyopa... ORPHA:159
Greig Cephalopolysyndactyly Syndrome
Inguinal hernia, Abnormal muscle fiber morphology, Abnormal heart morphology, Camptodactyly of to... OMIM:175700
Familial Thyroid Dyshormonogenesis
Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice ORPHA:95716
Primary Triglyceride Deposit Cardiomyovasculopathy
Diabetes mellitus, Angina pectoris, Increased muscle lipid content, Abnormality of the calf muscu... ORPHA:565612
Coronary Arterial Fistula
Abnormal EKG, Elevated jugular venous pressure, Continuous heart murmur, Bicuspid aortic valve, T... ORPHA:2041
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Hypoglycemia, Generalized amyotrophy OMIM:610006
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Knee... ORPHA:3208
Symmetrical Thalamic Calcifications
Arrhythmia, Failure to thrive ORPHA:1314
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... OMIM:617912
Glutamine Deficiency, Congenital
Flexion contracture, Bradycardia, Camptodactyly OMIM:610015
Liposarcoma
Sarcoma, Abdominal pain, Fatigue, Weight loss ORPHA:69078
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Bradycardia OMIM:208155
Mitochondrial Trifunctional Protein Deficiency 2
Tricuspid regurgitation, Hypoglycemia, Elevated circulating aspartate aminotransferase concentrat... OMIM:620300
Insulin-Resistance Syndrome Type B
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Fasting hypoglycemia, Hyper... ORPHA:2298
Liver Failure, Infantile, Transient
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:613070
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased ... OMIM:258450
Juvenile Dermatomyositis
Calcinosis, Bundle branch block, Myositis, Pericarditis, Gastrointestinal hemorrhage, Angina pect... ORPHA:93672
Myotonic Dystrophy 2
Tachycardia, Premature ventricular contraction, Right bundle branch block, Insulin insensitivity,... OMIM:602668
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Exercise intolerance, Impaired glucose tolerance, Facial palsy, Limb muscle weakness, Left bundle... OMIM:610131
Spontaneous Periodic Hypothermia
Fatigue, Arrhythmia ORPHA:29822
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Fatigue, Increased body weight ORPHA:589905
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Hypoglycemia, Fasting hypoglycemia, Hep... ORPHA:348
Dermatomyositis
Myocardial infarction, Inflammatory myopathy, Neoplasm, Arthralgia, Fatigue, Vasculitis, Lung ade... ORPHA:221
Combined Malonic And Methylmalonic Acidemia
Elevated hepatic transaminase, Hypoglycemia ORPHA:289504
Rheumatoid Arthritis
Fatigue, Vasculitis, Weight loss, Digital flexor tenosynovitis, Arthralgia OMIM:180300
Combined Oxidative Phosphorylation Defect Type 39
Neonatal hypoglycemia, Bradycardia, Congenital foot contractures, Limb hypertonia ORPHA:565624
Athyreosis
Fatigue, Macroglossia ORPHA:95713
Malonyl-Coa Decarboxylase Deficiency
Dilated cardiomyopathy, Hypoglycemia, Left ventricular noncompaction cardiomyopathy OMIM:248360
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Arrhythmia ORPHA:99944
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Carney Triad
Gastrointestinal hemorrhage, Fatigue, Tachycardia, Abdominal pain, Gastrointestinal stroma tumor,... ORPHA:139411
Eosinophilic Granulomatosis With Polyangiitis
Fatigue, Myositis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Abnormal peric... ORPHA:183
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Recurrent hypoglycemia OMIM:618158
Propionic Acidemia
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Hyperglycinuria, Cardiomyopathy, Pancreatitis,... OMIM:606054
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... ORPHA:26791
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ... OMIM:620249
Polyarteritis Nodosa
Pericarditis, Abdominal pain, Raynaud phenomenon, Weight loss, Cardiomyopathy, Hypertension, Arth... ORPHA:767
Congenital Myopathy 15
Tricuspid regurgitation, Fatty replacement of skeletal muscle, Increased variability in muscle fi... OMIM:620161
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Classic Hodgkin Lymphoma
Fatigue, Lymphoma, Bone pain, Weight loss, Neoplasm, Chest pain ORPHA:391
Hemochromatosis, Type 1
Diabetes mellitus, Cardiomegaly, Abdominal pain, Congestive heart failure, Telangiectasia, Cardio... OMIM:235200
Donohue Syndrome
Skeletal muscle atrophy, Adipose tissue loss, Hyperinsulinemia, Cholestasis, Hepatic fibrosis, Pa... OMIM:246200
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Secundum atrial septal defect, Congestive heart failure, Flexion contrac... OMIM:616866
Congenital Macroglossia
Abnormal hepatic glycogen storage ORPHA:2430
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Ventricular septal hypertrophy, Right bundle branch block, ... OMIM:115195
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:617093
Car T Cell Therapy-Associated Cytokine Release Syndrome
Fatigue, Tachycardia, Heart block, Elevated circulating creatinine concentration, Capillary leak,... ORPHA:542323
Whipple Disease
Gastrointestinal hemorrhage, Fatigue, Myositis, Pericarditis, Myocardial infarction, Cachexia, Ab... ORPHA:3452
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Fatty replacement of skeletal muscle, Congestive heart failure, Hip pain, Cardiomyopathy, General... ORPHA:52430
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle... OMIM:254090
Babesiosis
Fatigue, Myocardial infarction, Congestive heart failure, Arthralgia, Myalgia ORPHA:108
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Chronic Thromboembolic Pulmonary Hypertension
Fatigue, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased pulmonary vascul... ORPHA:70591
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy, Hypertrophic cardiomyopathy ORPHA:1369
Autosomal Dominant Spastic Paraplegia Type 37
Fatigue, Lower limb muscle weakness ORPHA:171612
Postpoliomyelitis Syndrome
Fatigue, Skeletal muscle atrophy, Arthralgia, Myalgia, Pain ORPHA:2942
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Pulmonary insufficiency, Inguinal hernia, Tricuspid regurgitation, Abnormal... ORPHA:230851
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Fatigue... ORPHA:29072
Combined Oxidative Phosphorylation Deficiency 21
Hepatic steatosis OMIM:615918
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Right ventricular dilatation, Hepatic steatosis, Hepatomegaly ORPHA:369840
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating ... OMIM:256810
Congenital Disorder Of Glycosylation, Type Im
Dilated cardiomyopathy, Bradycardia, Hypoketotic hypoglycemia OMIM:610768
Parkinsonism-Dystonia 2, Infantile-Onset
Fatigue, Hypomimic face OMIM:618049
Orthostatic Hypotension 2
Orthostatic hypotension, Hypoglycemia OMIM:618182
Papa Syndrome
Fatigue, Myositis, Arthralgia, Type I diabetes mellitus ORPHA:69126
King-Denborough Syndrome
Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Exercise-induced myalgia, ... OMIM:619542
Cirrhotic Cardiomyopathy
Prolonged QT interval, Exercise intolerance, Elevated jugular venous pressure, Left atrial enlarg... ORPHA:57777
Polycythemia Vera
Gastrointestinal hemorrhage, Fatigue, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary ... ORPHA:729
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Hypoglycemia, Pancreatitis OMIM:620137
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular tachycardia,... OMIM:615184
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Truncal obesity, Arrhythmia, Camptodactyly of finger ORPHA:2928
3-Methylcrotonyl-Coa Carboxylase Deficiency
Hypoglycemia ORPHA:6
Mitochondrial Trifunctional Protein Deficiency 1
Elevated hepatic transaminase, Elevated circulating aspartate aminotransferase concentration, Con... OMIM:609015
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Tachycardia, Ventricular septal defect, Ca... ORPHA:860
Histidinuria-Renal Tubular Defect Syndrome
Histidinuria, Hypoglycemia ORPHA:2158
Ddost-Cdg
Elevated hepatic transaminase, Hepatic steatosis ORPHA:300536
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hypoglycemia OMIM:266150
Mitochondrial Complex I Deficiency, Nuclear Type 14
Biventricular hypertrophy, Myopathy, Hypertrophic cardiomyopathy OMIM:618236
Relapsing Fever
Fatigue, Tachycardia, Epistaxis, Abdominal pain, Elevated circulating creatinine concentration, A... ORPHA:91547
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Abdominal pain, Bone pain, Multiple li... ORPHA:1414
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Fatigue, Tachycardia, Myelodysplasia, Hematological neoplasm, Abdominal p... ORPHA:98849
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, ... OMIM:617397
Legionnaires Disease
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Endocarditis, Arthralgia, Chest pain, Myalgia... ORPHA:549
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Left ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Ske... OMIM:300280
Combined Oxidative Phosphorylation Deficiency 49
Exercise intolerance, Ragged-red muscle fibers, Myalgia OMIM:619024
Porphyria Cutanea Tarda
Elevated hepatic transaminase, Viral hepatitis, Abnormal circulating enzyme concentration or acti... ORPHA:101330
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Hypoglycemia, Cardiac arrest, Acute rhabdomyolysis, Rhabdomyolysis... OMIM:616878
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Snakebite Envenomation
Pain, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrhage, Mus... ORPHA:449285
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Mitochondrial Complex I Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Failure to thrive OMIM:618229
Obesity Due To Prohormone Convertase I Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Increased adipose tissue, Hyperinsulinemia, Obesity, Hypoglycemic seizures, Failure to thrive, Ch... ORPHA:71526
Aggressive Systemic Mastocytosis
Gastrointestinal hemorrhage, Fatigue, Portal hypertension, Hematological neoplasm, Abdominal pain... ORPHA:98850
Dopamine Beta-Hydroxylase Deficiency
Fatigue, Abnormal EKG, Orthostatic hypotension, Hypoglycemia, Insulin resistance, Elevated circul... ORPHA:230
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 3
Hypertrophic cardiomyopathy OMIM:614053
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Hepatitis, Fulminant Viral, Susceptibility To
Fatigue, Type I diabetes mellitus OMIM:618549
Kaposi Sarcoma
Fatigue, Lymphoproliferative disorder, Neoplasm by anatomical site, Weight loss, Neoplasm of the ... ORPHA:33276
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Aortic regurgitation, Tricuspid regurgitation, Reduced left ventricular ejection fraction, Left v... OMIM:616501
Immunodeficiency, Common Variable, 11
Fatigue, Failure to thrive OMIM:615767
Autosomal Dominant Optic Atrophy, Classic Form
Fatigue, Skeletal muscle atrophy, Scapular winging, Diabetes mellitus, Myopathy, Myalgia, Weaknes... ORPHA:98673
Mitochondrial Complex I Deficiency, Nuclear Type 37
Pulmonary arterial hypertension, Inguinal hernia, Bradycardia, Skeletal muscle atrophy OMIM:619272
Seckel Syndrome 10
Ventricular hypertrophy, Acute pancreatitis, Diabetes mellitus, Impaired glucose tolerance, Eleva... OMIM:617253
Muscular Dystrophy, Congenital, Megaconial Type
Facial palsy, Dilated cardiomyopathy, Myopathy, Muscular dystrophy, Increased endomysial connecti... OMIM:602541
Autoimmune Hemolytic Anemia, Warm Type
Fatigue, Tachycardia, Lymphoproliferative disorder, Congestive heart failure, Chronic lymphatic l... ORPHA:90033
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Failure to thrive OMIM:618378
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Hypoglycemia OMIM:229700
Bethlem Myopathy
Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ... ORPHA:610
Subaortic Stenosis-Short Stature Syndrome
Inguinal hernia, Obesity, Membranous subvalvular aortic stenosis, Type II diabetes mellitus, Subv... ORPHA:3191
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Flexion contracture, Myopathy, Nemaline bodies OMIM:616549
Pfapa Syndrome
Fatigue, Abdominal pain, Arthralgia, Weight loss ORPHA:42642
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Chole... OMIM:618775
Proximal Spinal Muscular Atrophy
Fatigue, Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexio... ORPHA:70
Lipodystrophy, Congenital Generalized, Type 1
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:608594
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypoglycemia, Aminoaciduria, Glyc... OMIM:616026
Lethal Infantile Mitochondrial Myopathy
Cardiomyopathy ORPHA:254857
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Laubry-Pezzi Syndrome
Aortic regurgitation, Fatigue, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal d... ORPHA:99094
Mody
Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitus, Hepatocellular adenoma... ORPHA:552
Cardiomyopathy, Familial Restrictive, 3
Myocardial sarcomeric disarray, Abnormal ST segment, Reduced left ventricular ejection fraction, ... OMIM:612422
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Sudden death... OMIM:616247
Atrial Fibrillation, Familial, 4
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... OMIM:611493
Overlap Myositis
Proximal muscle weakness in upper limbs, Diabetes mellitus, Perifascicular muscle fiber atrophy, ... ORPHA:206572
Ataxia-Oculomotor Apraxia Type 4
Progressive distal muscular atrophy, Obesity, Telangiectasia, Muscular dystrophy, Distal lower li... ORPHA:459033
Mitochondrial Complex I Deficiency, Nuclear Type 6
Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Failure to th... OMIM:618228
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Fatigue, Telangiectasia of the skin, Abnormal pericardium morphology... ORPHA:679
Congenital Isolated Acth Deficiency
Hepatitis, Hypoglycemic seizures, Hypotension, Prolonged neonatal jaundice, Neonatal hypoglycemia ORPHA:199296
Amyloidosis, Finnish Type
Cardiomyopathy, Cardiac amyloidosis OMIM:105120
Pyridoxine-Dependent Epilepsy
Hypoglycemia ORPHA:3006
Kearns-Sayre Syndrome
Diabetes mellitus, Ragged-red muscle fibers, Cardiomyopathy, Third degree atrioventricular block,... OMIM:530000
Neutral Lipid Storage Disease With Ichthyosis
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Micronodular cirrhosis, Cardio... ORPHA:98907
Mixed-Type Autoimmune Hemolytic Anemia
Fatigue, Tachycardia, Lymphoma, Arthralgia ORPHA:90036
Erythrocytosis, Familial, 2
Fatigue, Cerebral hemorrhage, Hypotension, Pulmonary arterial hypertension, Hemangioma, Failure t... OMIM:263400
Neutral Lipid Storage Myopathy
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... ORPHA:98908
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Telangiectasia of the skin, Lipodystrophy, Dilated cardiomyopathy, Cardiomyopathy, Mitral regurgi... OMIM:212112
Pituitary Gigantism
Proportionate tall stature, Pituitary prolactin cell adenoma, Pituitary growth hormone cell adeno... ORPHA:99725
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Ketotic hypoglycemia, Limb-girdle muscle ... ORPHA:79240
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Obesity, Glucose intolerance, Hypotension, Postural hypotension with compensato... ORPHA:369873
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Fatigue, Pericarditis, B-cell lymphoma, Myocardial infarction, Abdom... ORPHA:91139
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Elevated circulating alanine aminotransferase concentration, Hypoglycemi... OMIM:245400
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Hypoglycemia, Jaundice, Generalized aminoaciduria, Glycosuria, Hepatic periportal n... OMIM:231680
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Fatigue, Cardiomegaly, Congestive heart failure, Cardiomyopathy, Myalgia, Limb muscle weakness OMIM:619259
Nipah Virus Disease
Fatigue, Myalgia, Hypotension ORPHA:99825
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Exercise-induced myalgia, Ragged-red muscle fibers OMIM:618416
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Exercise intolerance, Skeletal muscle atrophy, Ragged-red muscle fibers, Right bundle branch bloc... OMIM:616479
Jervell And Lange-Nielsen Syndrome
Syncope, Torsade de pointes, Postexertional symptom exacerbation, Arrhythmia, Prolonged QTc inter... ORPHA:90647
Lyme Disease
Fatigue, Atrioventricular block, Arthralgia, Myalgia, Arrhythmia ORPHA:91546
Autoinflammation With Infantile Enterocolitis
Fatigue, Diffuse alveolar hemorrhage, Arthralgia, Myalgia, Failure to thrive OMIM:616050
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diabetes mellitus, Arrhythmia ORPHA:96
Acitretin/Etretinate Embryopathy
Third degree atrioventricular block, Atrioventricular canal defect, Bradycardia, Conotruncal defect ORPHA:40366
Houge-Janssens Syndrome 1
Fatigue, Congenital muscular torticollis, Facial hypotonia, Hypoglycemia OMIM:616355
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Arrhythmia, Hypertension ORPHA:3222
Poliomyelitis
Fatigue, Skeletal muscle atrophy, Exercise intolerance, Hypoplasia of the musculature, Abnormal s... ORPHA:2912
Hsd10 Disease, Neonatal Type
Hypertrophic cardiomyopathy ORPHA:391457
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypertension, Hypoglycemia OMIM:201910
Combined Oxidative Phosphorylation Defect Type 27
Pain, Ragged-red muscle fibers ORPHA:477774
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Fatigue, Failure to thrive, Cerebral ischemia, Myelodysplasia ORPHA:927
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Becker Muscular Dystrophy
Exercise intolerance, Skeletal muscle atrophy, Fatigue, Myalgia ORPHA:98895
Alpha-Thalassemia-Myelodysplastic Syndrome
Fatigue, Myelodysplasia, Acute leukemia ORPHA:231401
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Mitral regurgitation, Inclusion body fibromatosis, Camptodactyly, Restrictiv... ORPHA:88630
Von Hippel-Lindau Disease
Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Upper lim... ORPHA:892
Citrullinemia Type Ii
Elevated hepatic transaminase, Hepatomegaly, Hypertriglyceridemia, Hyperlipidemia, Hepatic fibros... ORPHA:247585
Coenzyme Q10 Deficiency, Primary, 1
Fatigue, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Decreased level of coenzyme Q10 i... OMIM:607426
Lipodystrophy, Congenital Generalized, Type 2
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Reduced subcutaneous adipose tis... OMIM:269700
Cholestasis, Progressive Familial Intrahepatic, 5
Hypoglycemia, Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated c... OMIM:617049
Immunodeficiency 47
Elevated hepatic transaminase, Accessory spleen, Hepatomegaly, Elevated circulating aspartate ami... OMIM:300972
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Refractory Anemia With Excess Blasts
Acute myeloid leukemia, Fatigue, Single lineage myelodysplasia, Bone pain, Retinal hemorrhage, Pa... ORPHA:86839
Poems Syndrome
Fatigue, Pain, Diabetes mellitus, Lipodystrophy, Lymphoproliferative disorder, Pericardial effusi... ORPHA:2905
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Mitochondrial Myopathy With Lactic Acidosis
Fatigue OMIM:251950
Familial Isolated Restrictive Cardiomyopathy
Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventricular arrhythmi... ORPHA:75249
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Tall stature, Large for gestational age OMIM:617757
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Hypoglycemia, Cardiomyopathy, Generalized amyotrophy, Limb hypertonia OMIM:617710
Postorgasmic Illness Syndrome
Fatigue, Hypertension, Palpitations ORPHA:279947
Polyvalvular Heart Disease Syndrome
Tricuspid regurgitation, Abnormal heart valve morphology, Sudden death, Mitral valve prolapse, Pu... ORPHA:228410
Gitelman Syndrome
Prolonged QT interval, Fatigue, Abdominal pain, Rhabdomyolysis, Ventricular tachycardia, Arthralg... OMIM:263800
Mitochondrial Complex I Deficiency, Nuclear Type 22
Hypertrophic cardiomyopathy OMIM:618243
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop... OMIM:620285
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Congestive heart failure, Microves... OMIM:617156
Classic Galactosemia
Elevated hepatic transaminase, Hepatomegaly, Hypoglycemia, Jaundice, Hepatic failure ORPHA:79239
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Elevated hepatic transaminase, Ketotic hypoglycemia, Postprandial hyperglycemia, Glycosuria ORPHA:2089
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Mitochondrial Complex I Deficiency, Nuclear Type 39
Small for gestational age, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal ... OMIM:620135
Thymic Carcinoma
Neoplasm of the thymus, Fatigue, Chest pain, Weight loss ORPHA:99868
Tetanus
Hypertension, Tachycardia, Bradycardia ORPHA:3299
Isolated Agammaglobulinemia
Fatigue, Failure to thrive, Cellulitis ORPHA:229717
Giant Cell Arteritis
Fatigue, Pericarditis, Gangrene, Epistaxis, Sudden cardiac death, Abdominal pain, Vasculitis, Wei... ORPHA:397
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Hepatomegaly, Hypoglycemia, Cerebellar hemorrhage, Cardiomyopathy, Pancreatitis OMIM:251000
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Hypoglycemia, Cholangitis, Microvesicular hepati... OMIM:124000
Familial Glucocorticoid Deficiency
Chronic fatigue, Ketotic hypoglycemia, Testicular adrenal rest tumor, Hypoglycemic seizures, Weig... ORPHA:361
Alexander Disease
Fatigue OMIM:203450
Autoimmune Hepatitis
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Splenomegaly, Fulminan... ORPHA:2137
Infantile Refsum Disease
Cardiomyopathy, Arrhythmia, Failure to thrive, Facial palsy ORPHA:772
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy, Neonatal hypoglycemia, Cystinuria OMIM:606407
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomegaly, Abnormal myocardium morphology, Hyperlipidemia, Hepatic calcification... ORPHA:228308
Hypothyroidism, Congenital, Nongoitrous, 6
Omphalocele, Macroglossia, Increased body mass index, Increased body weight OMIM:614450
Macrocephaly-Intellectual Disability-Autism Syndrome
Multiple lipomas, Hepatic steatosis ORPHA:210548
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Cardiomyopathy, Arthrogryposis multiplex congenita,... OMIM:232500
Combined Oxidative Phosphorylation Deficiency 42
Cardiomyopathy, Hypoglycemia, Decreased liver function OMIM:618839
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Lower limb muscle we... ORPHA:99013
Deafness-Lymphedema-Leukemia Syndrome
Fatigue, Acute leukemia, Intracranial hemorrhage, Weight loss, Myeloproliferative disorder ORPHA:3226
Combined Oxidative Phosphorylation Deficiency 40
Hypertrophic cardiomyopathy, Hypoglycemia, Decreased liver function OMIM:618835
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Takotsubo cardiomyopathy ORPHA:363549
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Inguinal hernia, Hypoglycemia, Elbow contracture, Umbilical hernia, Nemaline bodies OMIM:620275
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Prolonged QT interval, Abnormal EKG, Elevated hepatic transaminase, Hypoglycemia, Acute rhabdomyo... ORPHA:480864
Drug-Induced Autoimmune Hemolytic Anemia
Fatigue, Congestive heart failure, Tachycardia ORPHA:90037
Idiopathic Pulmonary Hemosiderosis
Fatigue, Diffuse alveolar hemorrhage, Cardiomegaly, Heart murmur, Failure to thrive ORPHA:99931
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Cardiomyopathy, Hypertension, Pituitary prolactin cell adenoma, Pituitary grow... OMIM:102200
Cronkhite-Canada Syndrome
Fatigue, Cachexia, Abdominal pain, Hamartomatous polyposis, Neoplasm ORPHA:2930
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ... ORPHA:178148
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Hiatus hernia, Increased connective tissue, Proximal amyotrophy, Mitra... OMIM:606408
Acth Deficiency, Isolated
Jaundice, Fasting hypoglycemia, Cholestasis OMIM:201400
Acute Interstitial Pneumonia
Fatigue, Pericardial effusion, Elevated circulating creatinine concentration, Hypertension, Arthr... ORPHA:79126
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Splenomegaly, Cardiomyopathy, Neonatal hypoglycemia OMIM:619046
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Omphalocele, Small for gestational age, Ventricular septal defect, Diastasis recti, Large for ges... ORPHA:254534
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Fatigue, Failure to thrive, Flexion contracture ORPHA:98791
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ... OMIM:255200
Glycogen Storage Disease Due To Acid Maltase Deficiency
Fatigue, Exercise intolerance, Facial hypotonia, Transient ischemic attack, Glycogen accumulation... ORPHA:365
Erythrocytosis, Familial, 1
Fatigue, Hypertension, Cerebral hemorrhage, Myocardial infarction OMIM:133100
Noonan Syndrome 8
Failure to thrive, Ventricular septal defect, Large for gestational age, Mitral regurgitation, Pu... OMIM:615355
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Methioninuria, Mitral valve prolapse, Hepatic steatosis, Pancreatitis OMIM:236200
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Elevated hepatic transaminase, Microvesicular hepatic steatosis, Muscular ... ORPHA:66634
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Elevated hepatic transaminase, Hypertyrosinemia, Hepatomegaly, Hypertriglyceridemia, Hypercholest... ORPHA:247598
Partial Atrioventricular Septal Defect
Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio... ORPHA:1330
Cyclic Vomiting Syndrome
Exercise intolerance, Cardiomyopathy, Abdominal pain OMIM:500007
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Hypoglycemia ORPHA:364
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Hepatomegaly, Ventricular septal defect, Hypoglycemia, Microvesicular hepatic s... OMIM:619418
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Fatigue ORPHA:314632
Fabry Disease
Abnormal endocardium morphology, Conjunctival telangiectasia, Bundle branch block, Fatigue, Angin... ORPHA:324
Galactokinase Deficiency
Hepatomegaly, Hyperinsulinemia, Hypoglycemia, Hepatosplenomegaly ORPHA:79237
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication
Hypoglycemia ORPHA:231137
Combined Oxidative Phosphorylation Deficiency 37
Elevated hepatic transaminase, Hypoglycemia, Bile duct proliferation, Macrovesicular hepatic stea... OMIM:618329
Congenital Analbuminemia
Fatigue, Lipodystrophy, Small for gestational age, Obesity, Low pulse pressure ORPHA:86816
Thyrotoxic Periodic Paralysis
Prolonged QT interval, Abnormal muscle fiber morphology, Rhabdomyolysis, Shortened PR interval, O... ORPHA:79102
Hemochromatosis, Type 2B
Cardiomyopathy, Congestive heart failure OMIM:613313
Primary Myelofibrosis
Fatigue, Cachexia, Portal hypertension, Hematological neoplasm, Flank pain, Constitutional sympto... ORPHA:824
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Diabetes mellitus, Dorsocervical fat pad, Hypoglycemia ORPHA:391408
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Abnormal pulmonary valve morphology, Congestive heart failure, Flexion c... ORPHA:1194
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Bowel incontinence, Congestive heart failure, Flexion contracture, Skele... ORPHA:682
Lethal Congenital Contracture Syndrome 5
Small for gestational age, Centrally nucleated skeletal muscle fibers, Flexion contracture, Subdu... OMIM:615368
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant
Hypertrophic cardiomyopathy OMIM:617184
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis OMIM:619433
X-Linked Agammaglobulinemia
Fatigue, Weight loss, Neoplasm, Cellulitis, Failure to thrive ORPHA:47
Cog8-Cdg
Elevated hepatic transaminase, Skeletal muscle atrophy, Hypoglycemia ORPHA:95428
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy OMIM:618683
Adiposis Dolorosa
Fatigue, Arthralgia, Telangiectasia of the skin, Obesity ORPHA:36397
Dpm1-Cdg
Elevated hepatic transaminase, Hepatomegaly, Hepatosplenomegaly, Hepatic fibrosis, Hepatic steatosis ORPHA:79322
Hurler-Scheie Syndrome
Cardiomyopathy, Abnormal heart valve morphology, Hernia ORPHA:93476
Autosomal Agammaglobulinemia
Fatigue, Failure to thrive, Verrucae, Cellulitis ORPHA:33110
Combined Oxidative Phosphorylation Deficiency 11
Cardiomyopathy, Hepatic steatosis, Decreased liver function, Hepatomegaly OMIM:614922
Combined Oxidative Phosphorylation Deficiency 39
Flexion contracture, Sinus bradycardia, Congenital contracture, Type I diabetes mellitus, Arthrog... OMIM:618397
Congenital Left Ventricular Aneurysm
Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnormal T-wav... ORPHA:1055
Familial Cold Urticaria
Fatigue, Arthralgia, Myalgia, Abdominal pain ORPHA:47045
Eisenmenger Syndrome
Ventricular tachycardia, Aortopulmonary window, Bacterial endocarditis, Supraventricular tachycar... ORPHA:97214
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy ORPHA:295
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Hypoglycemia OMIM:210200
Post-Traumatic Pituitary Deficiency
Fatigue, Hypoglycemia, Hypotension ORPHA:95619
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Hypoglycemia, Cardiomegaly ORPHA:391428
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary arterial hypertension OMIM:619003
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Failure to thrive, Flexion contracture OMIM:620240
Blue Diaper Syndrome
Elevated hepatic transaminase, Recurrent hypoglycemia, Increased proinsulin:insulin ratio ORPHA:94086
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Parathyroid Carcinoma
Fatigue, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, ... ORPHA:143
Spinocerebellar Ataxia, Autosomal Recessive 13
Fatigue OMIM:614831
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath... OMIM:248800
Primary Hepatic Neuroendocrine Carcinoma
Chronic fatigue, Right ventricular failure, Night sweats, Heart murmur, Weight loss, Neoplasm of ... ORPHA:100085
Adult-Onset Still Disease
Fatigue, Pericarditis, Abdominal pain, Myocarditis, Arthralgia, Myalgia ORPHA:829
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Exercise intolerance, Myopathy, Fatigue OMIM:613077
Autoerythrocyte Sensitization Syndrome
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Intracranial hemorrhage, Intramuscular hematoma,... ORPHA:324636
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Failure to thrive, Skeletal muscle autophagosome accumulation, Centrally nucleat... OMIM:619518
Glucocorticoid Resistance, Generalized
Fatigue, Hypertension, Hypoglycemia OMIM:615962
Evans Syndrome
Fatigue, Syncope, Epistaxis ORPHA:1959
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Immunodeficiency 40
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Elevated circulating a... OMIM:616433
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Arrhythmia, Myocardial infarction, Abdominal pain ORPHA:54057
Arterial Tortuosity Syndrome
Fatigue, Inguinal hernia, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Femo... ORPHA:3342
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Bradycardia, Hypotension, Decreased liver func... ORPHA:90051
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Flexion contracture, Retinal hemorrhage, Corneal scarring... OMIM:614653
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Chronic fatigue, Bone pain OMIM:610539
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Elevated hepatic transaminase, Cholestasis, Hepatosplenomegaly, Hepatic fibrosis, Hepatic failure... ORPHA:541423
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated hepatic transaminase, Hypoglycemia, Congestive heart failure, Left ventricular hypertrop... OMIM:619355
Histidinemia
Histidinuria, Hyperhistidinemia OMIM:235800
Congenital Fiber-Type Disproportion Myopathy
Fatigue, Hip contracture, Failure to thrive, Hypoplasia of the musculature, Ankle flexion contrac... ORPHA:2020
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Bicuspid aortic valve, Overweight, Dilated cardiomyopathy, Renovascular hyp... ORPHA:401923
Primary Familial Polycythemia
Fatigue, Arthralgia, Epistaxis, Abdominal pain ORPHA:90042
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity, Cardiomegaly ORPHA:88643
Combined Oxidative Phosphorylation Deficiency 41
Hypoglycemia, Cardiomegaly OMIM:618838
Pancreatic And Cerebellar Agenesis
Reduced subcutaneous adipose tissue, Diabetes mellitus, Hypoglycemia, Secundum atrial septal defe... OMIM:609069
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Hypoglycemia, Hypertension, F... OMIM:232200
Aicardi-Goutieres Syndrome 9
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Acute pancreatitis, Portal hypertensio... OMIM:619487
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis OMIM:275630
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Fatigue, Chills, Panniculitis, Weight loss ORPHA:86884
American Trypanosomiasis
Abdominal pain, Myocarditis, Congestive heart failure, Cardiomyopathy, Myalgia, Arrhythmia ORPHA:3386
Complete Atrioventricular Septal Defect
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... ORPHA:1329
Noonan Syndrome 11
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:618499
Alstrom Syndrome
Elevated hepatic transaminase, Hepatomegaly, Chronic active hepatitis, Hypertriglyceridemia, Dila... OMIM:203800
Body Mass Index Quantitative Trait Locus 20
Hyperinsulinemia, Obesity, Tall stature OMIM:618406
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Di... ORPHA:79644
Hyperprolinemia Type 2
Exercise intolerance, Chronic fatigue, Abdominal pain, Myalgia, Prolinuria, Hydroxyprolinuria ORPHA:79101
Pyridoxal Phosphate-Responsive Seizures
Hypoglycemia ORPHA:79096
Melas
Wolff-Parkinson-White syndrome, Exercise intolerance, Diabetes mellitus, Cardiac conduction abnor... ORPHA:550
Smith-Kingsmore Syndrome
Umbilical hernia, Hypoglycemia, Diastasis recti OMIM:616638
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigue, Myopathy, Abnormal dental enamel morphology ORPHA:257
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Flexion contracture of fin... ORPHA:466768
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Increased connective tissue, Flexion contrac... ORPHA:258
Satoyoshi Syndrome
Skeletal muscle hypertrophy, Fatigue OMIM:600705
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Cardiomyopathy, Failure to thrive, Abdominal pain ORPHA:79312
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Heart... ORPHA:275766
Tyrosinemia, Type I
Gastrointestinal hemorrhage, Hepatomegaly, Acute hepatic failure, Elevated hepatic transaminase, ... OMIM:276700
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Elevated circulating aspartate aminotransfer... OMIM:608779
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph... ORPHA:370959
Hydrops Fetalis
Small for gestational age, Pericardial effusion, Capillary leak, Abnormal heart morphology, Neopl... ORPHA:1041
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome
Hypoglycemia OMIM:614739
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Silver-Russell Syndrome 2
Neonatal hypoglycemia OMIM:618905
Corticosteroid-Binding Globulin Deficiency
Fatigue, Hypertension, Asthenia, Hypotension OMIM:611489
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Proximal muscle weakness in lower limbs, Hypoglycemia, Hypoinsulinemia ORPHA:453533
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Overweight, Obesity, Mitral regurgitation, Pulmonary arterial hypertension OMIM:614651
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Hepatomegaly, Aminoaciduria, Decreased liver function, Diffuse hepatic steatosis, Hypertrophic ca... ORPHA:436271
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Congestive heart ... OMIM:115250
19P13.12 Microdeletion Syndrome
Atrial septal defect, Hepatic steatosis, Hyperlipidemia, Ventricular septal defect ORPHA:254346
Familial Cold Autoinflammatory Syndrome 1
Fatigue, Chills, Arthralgia, Myalgia OMIM:120100
Congenital Myopathy 21 With Early Respiratory Failure
Hypertrophic cardiomyopathy, EMG: myopathic abnormalities, Inguinal hernia OMIM:620326
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Hyperglycemia, Hypoglycemia, Elevated hepatic transaminase OMIM:615453
Progeria-Short Stature-Pigmented Nevi Syndrome
Elevated hepatic transaminase, Neoplasm of the pancreas, Multiple joint contractures, Lack of fac... ORPHA:2959
Temple Syndrome
Recurrent hypoglycemia, Type II diabetes mellitus ORPHA:254516
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Brain neoplasm, Prolonged QRS complex, Non-medullary thyroid carcinoma, ... ORPHA:273
Ileal Neuroendocrine Tumor
Chronic fatigue, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Weight loss, ... ORPHA:100078
Generalized Pustular Psoriasis
Fatigue, Overweight, Congestive heart failure, Obesity, Arthralgia, Pain ORPHA:247353
Atypical Juvenile Parkinsonism
Fatigue, Leg muscle stiffness, Hypomimic face ORPHA:391411
3-Hydroxy-3-Methylglutaric Aciduria
Fatigue, Nonketotic hypoglycemia, Cardiac arrest, Dilated cardiomyopathy, Weight loss, Recurrent ... ORPHA:20
Alveolar Echinococcosis
Fatigue, Low back pain, Abnormal pericardium morphology, Portal hypertension, Abdominal pain, Abn... ORPHA:284
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Fatigue, Myositis, Pericarditis, Myocarditis, Arthralgia, Chest pain... ORPHA:809
Laron Syndrome
Hypoglycemia ORPHA:633
Fanconi-Bickel Syndrome
Reduced subcutaneous adipose tissue, Hepatomegaly, Elevated circulating aspartate aminotransferas... OMIM:227810
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Facial diplegia, Cardiomyopathy, Lower limb muscle weakness, Foo... ORPHA:521411
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus... OMIM:607459
Hypothyroidism Due To Tsh Receptor Mutations
Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice ORPHA:90673
Hyperparathyroidism-Jaw Tumor Syndrome
Fatigue, Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, ... ORPHA:99880
Alg3-Cdg
Macroglossia, Cardiomyopathy, Lipodystrophy, Arthrogryposis multiplex congenita ORPHA:79321
Leishmaniasis
Fatigue, Night sweats, Arthralgia, Weight loss ORPHA:507
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Cerebral hemorrhage, Abnormality of skeletal muscle fiber size, Increase... OMIM:620278
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Abnormal left ventricular function, Cholecystitis, Internal hemorrhage, Hepa... ORPHA:99827
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatic steatosis, Pericarditis, Hepatomegaly, Pericardial effusio... OMIM:212065
Hepatic Veno-Occlusive Disease
Increased body weight, Abdominal pain ORPHA:890
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Cardiomyopathy, Hepatic steatosis, Neonatal hypoglycemia ORPHA:445038
Short Qt Syndrome 1
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... OMIM:609620
Monocarboxylate Transporter 1 Deficiency
Ketotic hypoglycemia OMIM:616095
Hennekam-Beemer Syndrome
Fatigue, Telangiectasia of the skin, Camptodactyly of finger, Abdominal pain, Hypotension, Arrhyt... ORPHA:2135
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cardiac arrest, Myofiber disarray, Myopathy, Increased variability in muscle fiber diameter, Hype... OMIM:604377
Marburg Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Tachycardia, Pericarditis, Hypoglycemia, Pancreatitis, Jaun... ORPHA:99826
Avian Influenza
Fatigue, Abdominal pain, Congestive heart failure, Rhabdomyolysis, Chest pain, Myalgia ORPHA:454836
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Exercise intolerance, Bicuspid aortic ... ORPHA:363705
Neuraminidase Deficiency
Skeletal muscle atrophy, Inguinal hernia, Cardiomyopathy, Cardiomegaly OMIM:256550
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Tachycardia, Pulmonary embolism, Rhabdomyolysis, Hypertension, Bra... ORPHA:94093
Late-Onset Isolated Acth Deficiency
Fatigue, Orthostatic hypotension, Hypoglycemia, Abdominal pain, Pituitary adenoma, Weight loss, A... ORPHA:199299
Mal De Débarquement
Fatigue ORPHA:210272
Benign Recurrent Intrahepatic Cholestasis
Fatigue, Abdominal pain, Weight loss ORPHA:65682
Oculopharyngodistal Myopathy 1
Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Dilated cardiomyopathy, Weight... OMIM:164310
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Macrovesicular hepatic steatosis, Cirrhosis ORPHA:298
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Myocarditis, Fulminant hepatitis, Subconjunctival hemorrhag... ORPHA:319213
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Hypoglyc... ORPHA:17
Cardiofaciocutaneous Syndrome 3
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... OMIM:615279
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Cryptogenic Organizing Pneumonia
Fatigue, Night sweats, Weight loss, Chest pain, Arthralgia ORPHA:1302
Congenital-Onset Steinert Myotonic Dystrophy
Bundle branch block, Facial hypotonia, First degree atrioventricular block, Abdominal pain, Encop... ORPHA:589821
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Fatigue, Abnormal dental enamel morphology, Epistaxis, Abdominal pai... ORPHA:79430
Optic Atrophy 7 With Or Without Auditory Neuropathy
Hypertrophic cardiomyopathy OMIM:612989
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Hepatomegaly, Hypoglycemia OMIM:246450
Carnitine Palmitoyltransferase Ii Deficiency
Hepatomegaly, Rhabdomyolysis, Hepatic calcification, Cardiomyopathy, Myopathy, Arrhythmia, Hepati... ORPHA:157
Sheehan Syndrome
Palpitations, Orthostatic hypotension, Hypoglycemia, Bradycardia ORPHA:91355
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy OMIM:616896
Botulism
Fatigue, Arrhythmia, Abdominal pain ORPHA:1267
Hypoadrenocorticism, Familial
Hypoglycemia OMIM:240200
Tenorio Syndrome
Hypoglycemia, Raynaud phenomenon, Macroglossia, Syncope, Hypoinsulinemia OMIM:616260
Familial Chylomicronemia Syndrome
Acute pancreatitis, Hypertriglyceridemia, Jaundice, Hyperlipidemia, Hepatosplenomegaly, Recurrent... ORPHA:444490
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Disproportionate tall stature, Facial palsy, Abnormal muscle fiber morph... ORPHA:3068
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Noonan Syndrome 5
Large for gestational age, Arrhythmia, Pulmonic stenosis, Atrial septal defect, Hypertrophic card... OMIM:611553
Tyrosinosis
Hypertyrosinemia OMIM:276800
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Telangiectasia of the skin, Generalized amyotrophy, Telangiectasia ORPHA:79279
Shigellosis
Fatigue, Failure to thrive in infancy, Hypoglycemia, Abdominal pain, Myocarditis, Rhabdomyolysis,... ORPHA:810
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type
Arrhythmia ORPHA:1808
Intellectual Developmental Disorder, Autosomal Dominant 45
Heart murmur, Neonatal hypoglycemia, Pulmonic stenosis OMIM:617600
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Dorsocervical fat pad, Pituitary adenoma, Increased body weight, Proximal amyotrophy, Hypertensio... ORPHA:189427
Gaisböck Syndrome
Fatigue, Diabetes mellitus, Angina pectoris, Myocardial infarction, Overweight, Hypovolemia, Obes... ORPHA:90041
Dysbetalipoproteinemia
Hepatomegaly, Acute pancreatitis, Hypertriglyceridemia, Xanthelasma, Hypercholesterolemia, Hepati... ORPHA:412
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Tricuspid regurgitation, Cardiomegaly, Myalgia, Pulmonary arterial hyper... OMIM:619051
Portal Hypertension, Noncirrhotic, 2
Fatigue, Epistaxis, Portal hypertension OMIM:619463
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Exerci... ORPHA:99845
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Hypertriglyceridemia, Elevated circulating aspartate aminotransferase concentration... OMIM:619573
Aica-Ribosuria Due To Atic Deficiency
Secundum atrial septal defect, Hypoglycemia OMIM:608688
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Scapular winging, Ventricular septal defect, Fatigue OMIM:617061
Infantile Spasms-Broad Thumbs Syndrome
Hypertrophic cardiomyopathy, Vaginal hernia ORPHA:3173
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Congenital muscular torticollis, Bicuspid aortic valve, Ventricular septal defect, Hypoglycemia, ... ORPHA:457279
Pigmented Nodular Adrenocortical Disease, Primary, 4
Hypertension, Diabetes mellitus, Dorsocervical fat pad, Increased body weight OMIM:615830
Amyotrophic Lateral Sclerosis
Fatigue, Skeletal muscle atrophy, Pain ORPHA:803
Myopathy With Lactic Acidosis, Hereditary
Exercise intolerance, Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Palpitations, Increased ... OMIM:255125
Mitochondrial Complex I Deficiency, Nuclear Type 33
Hypoglycemia OMIM:618253
Hec Syndrome
Cardiomyopathy, Arrhythmia, Endocardial fibroelastosis ORPHA:2119
Maple Syrup Urine Disease
Hypoglycemia, Pancreatitis OMIM:248600
Bone Dysplasia, Lethal Holmgren Type
Weight loss, Hernia, Atrial septal defect, Hypertrophic cardiomyopathy, Failure to thrive ORPHA:1842
Mcleod Syndrome
Atrial fibrillation, Rhabdomyolysis, Dilated cardiomyopathy, Cardiomyopathy, Myopathy OMIM:300842
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Bradycardia OMIM:608800
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Flexion contracture, Cardiomyopathy, Myopathy, Weakness of facial musculature, Failure to thrive OMIM:201470
Hellp Syndrome
Back pain, Fatigue, Shoulder pain, Cerebral hemorrhage, Abdominal pain, Increased body weight, Hy... ORPHA:244242
Hemorrhagic Fever-Renal Syndrome
Shock, Back pain, Tachycardia, Fatigue, Epistaxis, Abdominal pain, Hematemesis, Elevated circulat... ORPHA:340
Heart Block, Congenital
Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no... OMIM:234700
Adrenocortical Carcinoma
Diabetes mellitus, Abdominal pain, Adrenocortical carcinoma, Increased body weight, Weight loss, ... ORPHA:1501
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Exercise intolerance, Rhabdomyolysis, Increased muscle lipid content, Exercise-induced myalgia, M... ORPHA:228302
Monosomy 13Q34
Epistaxis, Insulin resistance, Hematochezia, Pulmonic stenosis, Common atrium, Hepatic steatosis ORPHA:96168
Orthostatic Hypotension 1
Weakness of facial musculature, Orthostatic hypotension, Atrial fibrillation, Neonatal hypoglycemia OMIM:223360
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Myotonia Fluctuans
Fatigue, Spasticity of facial muscles, Myalgia ORPHA:99734
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Insulin resistance, Hypoglycemia ORPHA:73272
Neonatal Lupus Erythematosus
Prolonged QT interval, Heart block, Dilated cardiomyopathy, Atrioventricular block, Abnormal hear... ORPHA:398124
Neurofibromatosis-Noonan Syndrome
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:638
Glossopharyngeal Neuralgia
Syncope, Jaw claudication, Bradycardia ORPHA:221098
Isolated Atp Synthase Deficiency
Exercise intolerance, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Beta-Ketothiolase Deficiency
Hepatomegaly, Hypoglycemia, Hypertension, Hypotension, Hyperglycemia ORPHA:134
Renal Nutcracker Syndrome
Fatigue, Orthostatic hypotension, Tachycardia, Abdominal pain, Flank pain, Weight loss, Syncope ORPHA:71273
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Ventricular septal defect, Impaired glucose tolerance, Insul... ORPHA:769
Nephronophthisis 16
Situs inversus totalis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Pulmonic stenosis OMIM:615382
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Fatigue, Vasculitis, Bone pain, Weight loss ORPHA:324964
Castleman Disease
Fatigue, Abdominal pain, Flank pain, Weight loss, Constitutional symptom, Restrictive cardiomyopathy ORPHA:160
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Acute Promyelocytic Leukemia
Fatigue, Epistaxis, Diffuse alveolar hemorrhage, Abdominal pain, Bone pain, Weight loss, Gangrene ORPHA:520
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Harel-Yoon Syndrome
Hypertrophic cardiomyopathy, Distal amyotrophy OMIM:617183
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Pericardial effusion, Skeletal muscle atrophy, Alpha-aminoadipic aciduria, Cardiomyopathy OMIM:620089
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Hepatomegaly, Increased hepatocellular lipid droplets, Aminoaciduria, Decreased liver function, I... OMIM:220110
Glucocorticoid Deficiency 2
Recurrent hypoglycemia OMIM:607398
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Flexion contracture, Hepatic steatosis, Neonatal hypoglycemia OMIM:616271
Chronic Beryllium Disease
Fatigue, Weight loss ORPHA:133
Alg1-Cdg
Cardiomyopathy, Abnormal heart morphology ORPHA:79327
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Impaired glucose tolerance, Pituitary adenoma, Obesity, Hypertension, Ab... OMIM:219090
Q Fever
Fatigue, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Myocarditis, Vascul... ORPHA:781
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Hypertriglyceridemia, Hypersplenis... ORPHA:275761
Vexas Syndrome
Fatigue, Myelodysplasia, Night sweats, Arthralgia, Arteritis OMIM:301054
Abnormal Hair, Joint Laxity, And Developmental Delay
Fatigue, Tricuspid regurgitation, Sinus bradycardia, Mitral regurgitation, Lower limb pain OMIM:261990
Bohring-Opitz Syndrome
Facial hypotonia, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contracture, Abno... ORPHA:97297
Lymphoid Interstitial Pneumonia
Fatigue, Raynaud phenomenon, Weight loss, Pulmonary venous hypertension, Abnormality of connectiv... ORPHA:79128
Familial Pancreatic Carcinoma
Back pain, Pancreatic adenocarcinoma, Diabetes mellitus, Chronic fatigue, Abdominal pain, Breast ... ORPHA:1333
Hypertrophic Cardiomyopathy With Kidney Anomalies Due To Mitochondrial Dna Mutation
Cardiomyopathy, Failure to thrive ORPHA:324525
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Fasting hypoglycemia ORPHA:436174
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Exercise intolerance, Arrhythmia, Mildly reduced left ventricular ejection fraction OMIM:618098
Cystic Echinococcosis
Fatigue, Weight loss, Abnormal heart morphology, Epigastric pain, Abnormality of the diaphragm ORPHA:400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Sinus bradycardia OMIM:126320
Combined Oxidative Phosphorylation Deficiency 57
Hypertrophic cardiomyopathy, Small for gestational age, Left ventricular noncompaction cardiomyop... OMIM:620167
Basilicata-Akhtar Syndrome
Neonatal hypoglycemia, Camptodactyly OMIM:301032
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Transient aminoaciduria... OMIM:229600
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentratio... OMIM:277900
Septo-Optic Dysplasia Spectrum
Fatigue, Obesity, Maternal diabetes ORPHA:3157
Combined Oxidative Phosphorylation Deficiency 12
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Elevated circulating... OMIM:614924
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Hypoglycemia, Co... ORPHA:506
Encephalitis Lethargica
Upper limb muscle weakness, Bradycardia ORPHA:83600
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Night sweats, Intrinsic hand muscle atrophy, Triceps ... OMIM:619574
Isolated Thyroid-Stimulating Hormone Deficiency
Macroglossia, Umbilical hernia, Bradycardia, Prolonged neonatal jaundice ORPHA:90674
Shashi-Pena Syndrome
Atrial septal defect, Hypoglycemia, Limb hypertonia OMIM:617190
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Abdominal Obesity-Metabolic Syndrome 3
Myocardial infarction, Hypertension, Abdominal obesity, Truncal obesity, Type II diabetes mellitu... OMIM:615812
Autosomal Dominant Dopa-Responsive Dystonia
Fatigue, Hypertension, Torticollis, Progressive flexion contractures ORPHA:98808
Glioblastoma
Fatigue, Glioblastoma multiforme ORPHA:360
Brain Dopamine-Serotonin Vesicular Transport Disease
Fatigue, Hypomimic face ORPHA:352649
Immunodeficiency 70
Chronic fatigue, Verrucae OMIM:618969
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Exercise intolerance, Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy... OMIM:600462
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Myositis, Pericarditis, Fatigue, Myocardial in... ORPHA:117
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypoglycemia, Macroglossia, Bradycardia, Prolonged neonatal jaundice, Umbilical hernia ORPHA:226307
Silver-Russell Syndrome 1
Fasting hypoglycemia, Hepatocellular carcinoma OMIM:180860
Isolated Complex I Deficiency
Hepatomegaly, Diabetes mellitus, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal mitochondria... ORPHA:2609
Yellow Fever
Shock, Acute pancreatitis, Elevated circulating aspartate aminotransferase concentration, Suprave... ORPHA:99829
Igg4-Related Retroperitoneal Fibrosis
Fatigue, Low back pain, Abdominal pain, Flank pain, Elevated circulating creatinine concentration... ORPHA:49041
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Intraventricular hemorrhage, Aminoaciduria, Hypoglycemia, Neonatal hypoglycemia OMIM:619055
Silver-Russell Syndrome Due To A Point Mutation
Inguinal hernia, Hypoglycemia ORPHA:397590
Familial Isolated Hypoparathyroidism
Myopathy, Arrhythmia, Abnormal dental enamel morphology ORPHA:2238
Inhalational Anthrax
Fatigue, Internal hemorrhage, Hypotension ORPHA:247257
Waldenström Macroglobulinemia
Gastrointestinal hemorrhage, Fatigue, Epistaxis, Congestive heart failure, Vasculitis, Lymphoma, ... ORPHA:33226
Adrenomyodystrophy
Hepatic steatosis ORPHA:977
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Angina pectoris, Hypoglycemia, Telangiectasia, Intracranial hemorrhage, ... ORPHA:109
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Fatigue, Sudden cardiac death, Myocardial infarction, Abdominal pain... ORPHA:36426
Fabry Disease
Angina pectoris, Transient ischemic attack, Myocardial infarction, Abdominal pain, Congestive hea... OMIM:301500
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Urinary incontinence, Cachexia, Upper-limb joint contracture, Distal amy... ORPHA:300605
Acute Monoblastic/Monocytic Leukemia
Fatigue, Acute monocytic leukemia, Weight loss ORPHA:514
Granulomatosis With Polyangiitis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina p... ORPHA:900
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Widened atrophic scar, Inguinal hernia, Congestive heart failure, Elbow fl... ORPHA:1900
Chromosome 2Q37 Deletion Syndrome
Arrhythmia, Obesity, Subvalvular aortic stenosis OMIM:600430
Menkes Disease
Gastrointestinal hemorrhage, Fatigue, Inguinal hernia, Hypoglycemia, Aplasia/Hypoplasia of the ab... ORPHA:565
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Facial hypotonia, Cardiomegaly, Left ventricular outflow tract obstruction, Shortened PR interval... ORPHA:308552
Gm1 Gangliosidosis
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Congestive heart failure, Ap... ORPHA:354
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Recurrent hypoglycemia OMIM:616817
Pituicytoma
Fatigue ORPHA:251623
Glutaric Acidemia I
Hepatomegaly, Hypoglycemia OMIM:231670
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Hypoglycemia, Hyperglycinuria OMIM:210210
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Obesity, Weight loss, Hypertrophic cardiomyopathy, Abnormal card... ORPHA:251071
Osteopetrosis, Autosomal Dominant 3
Fatigue, Asthenia OMIM:618107
Pediatric Hepatocellular Carcinoma
Fatigue, Epigastric pain, Abdominal pain ORPHA:33402
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardiomyopathy, Fai... OMIM:300952
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Wolff-Parkins... OMIM:619705
Kufor-Rakeb Syndrome
Fatigue, Torticollis, Leg muscle stiffness OMIM:606693
Genetic Hyperferritinemia Without Iron Overload
Fatigue, Arthralgia ORPHA:254704
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Hypoglycemia, Splenomegaly, Hyp... OMIM:232220
Costello Syndrome
Ventricular septal defect, Failure to thrive in infancy, Abnormal dental enamel morphology, Mitra... ORPHA:3071
Lead Poisoning
Fatigue, Small for gestational age, Abdominal pain, Hypertension, Abdominal cramps, Impairment of... ORPHA:330015
Reynolds Syndrome
Fatigue, Telangiectasia of the skin, Myalgia, Mucosal telangiectasiae ORPHA:779
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Hemato... OMIM:615895
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Acute Adrenal Insufficiency
Fatigue, Orthostatic hypotension, Hypoglycemia, Myocardial infarction, Abdominal pain, Hypovolemi... ORPHA:95409
Bachmann-Bupp Syndrome
Hypoglycemia OMIM:619075
Gmppb-Related Limb-Girdle Muscular Dystrophy R19
Exercise intolerance, Proximal muscle weakness in upper limbs, Dilatation of the ventricular cavi... ORPHA:363623
Noonan Syndrome 7
Large for gestational age, Lentigo maligna melanoma, Pulmonic stenosis, Atrial septal defect, Hyp... OMIM:613706
Cold Agglutinin Disease
Back pain, Fatigue, Arthralgia ORPHA:56425
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Reactive hypoglycemia OMIM:600955
Zygomycosis
Gastrointestinal hemorrhage, Fatigue, Pericarditis, Fasciitis, Diabetes mellitus, Epistaxis, Hema... ORPHA:73263
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Elevated circu... ORPHA:247691
Wiskott-Aldrich Syndrome
Fatigue, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, Hematemesis, Vascu... ORPHA:906
3-Methylglutaconic Aciduria, Type Viii
Jaundice, Bradycardia, Neonatal hypoglycemia OMIM:617248
Cholera
Hypovolemic shock, Tachycardia, Hypotension, Hypoglycemia ORPHA:173
Paroxysmal Nocturnal Hemoglobinuria 2
Fatigue, Arthralgia, Abdominal pain OMIM:615399
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Small for gestational age, Type 2 muscle fiber predominance, Arrhythmia,... OMIM:615471
Immunodeficiency 59 And Hypoglycemia
Hepatomegaly, Hypoglycemia, Arteritis, Prolonged neonatal jaundice OMIM:233600
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Cardiomegaly, Hepatic fibrosis, C... ORPHA:14
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Neoplasm of the nervous system, Arrhythmia, Ganglioneuroblastoma ORPHA:2151
Xeroderma Pigmentosum
Conjunctival telangiectasia, Fatigue, Telangiectasia of the skin, Telangiectasia, Aminoaciduria, ... ORPHA:910
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Telangiectasia of the skin, Visceral angiomatosis, Neoplasm, Cerebral ischemia, Arrhythmia, Failu... ORPHA:60040
Pituitary Apoplexy
Fatigue, Hypoglycemia, Trigeminal neuralgia, Pituitary adenoma, Hypertension, Hypotension ORPHA:95613
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of ... ORPHA:758
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Hypertriglyceridemia, Hyperl... ORPHA:79259
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol... OMIM:157640
Iatrogenic Botulism
Fatigue, Orthostatic hypotension ORPHA:254509
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Renal neoplasm, Fatigue, Abdominal pain, Retinal hamartoma, Renal an... ORPHA:538
D-2-Hydroxyglutaric Aciduria 1
Aortic regurgitation, Cardiomyopathy OMIM:600721
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Hepatomegaly, Ventricular septal defect, Elevated circulating aspa... OMIM:619525
Kawasaki Disease
Fatigue, Pericarditis, Abnormal heart valve morphology, Abdominal pain, Myocarditis, Congestive h... ORPHA:2331
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Fatigue, Sudden cardiac death, Abdominal pain, Weight loss, Abnormal... ORPHA:537
Somatomammotropinoma
Fatigue, Diabetes mellitus, Pituitary adenoma, Macroglossia, Hypertension, Mitral regurgitation, ... ORPHA:314769
Refsum Disease
Heart block, Skeletal muscle atrophy, Cardiomyopathy ORPHA:773
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures
Bicuspid aortic valve, Hypoglycemia, Macroglossia, Umbilical hernia, Aortic valve stenosis OMIM:614501
Muckle-Wells Syndrome
Myalgia, Arthralgia, Chronic fatigue OMIM:191900
Roifman Syndrome
Noncompaction cardiomyopathy, Hip contracture, Ventricular septal defect OMIM:616651
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Umbilical hernia, Bilateral camptodactyly, Fatigue OMIM:619234
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hepatomegaly, Inguinal hernia, Ventricular septal def... ORPHA:373
Congenital Disorder Of Glycosylation, Type Ig
Patent foramen ovale, Hypoglycemia OMIM:607143
Developmental And Epileptic Encephalopathy 75
Cardiomyopathy OMIM:618437
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Chronic fatigue, Pituit... ORPHA:97283
D-Bifunctional Protein Deficiency
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Splenomegal... OMIM:261515
Pituitary Hormone Deficiency, Combined, 2
Neonatal hypoglycemia, Hypoglycemic seizures OMIM:262600
Scorpion Envenomation
Pain, Bundle branch block, Tachycardia, Cardiac conduction abnormality, Abdominal pain, Myocardit... ORPHA:466677
Reni Syndrome
Hypoglycemia OMIM:617575
Thyroid Hypoplasia
Fatigue, Macroglossia ORPHA:95720
Cimdag Syndrome
Microvesicular hepatic steatosis, Lipodystrophy, Cholelithiasis, Hepatomegaly OMIM:619273
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency
Hypoglycemia OMIM:614736
Granulomatosis With Polyangiitis
Fatigue, Diffuse alveolar hemorrhage, Retinal hemorrhage, Localized pulmonary hemorrhage, Weight ... OMIM:608710
Erdheim-Chester Disease
Fatigue, Abnormal pericardium morphology, Abdominal pain, Congestive heart failure, Bone pain, We... ORPHA:35687
Acromegaly
Fatigue, Diabetes mellitus, Macroglossia, Hypertension, Mitral regurgitation, Arthralgia, Pituita... ORPHA:963
Cyclic Neutropenia
Fatigue, Abdominal pain, Bone pain, Cellulitis ORPHA:2686
Sotos Syndrome
Ventricular septal defect, Muscular ventricular septal defect, Glucose intolerance, Prolonged neo... OMIM:117550
Fixed Drug Eruption
Fatigue, Chills ORPHA:293812
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Achilles tendon contracture, Hepatic fibros... OMIM:616263
Smith-Magenis Syndrome
Increased body weight, Abnormal heart morphology OMIM:182290
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Dilated cardiomyopathy, Ragged-red muscle fibers, Increased variability in muscle fiber diameter ORPHA:70595
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Low back pain, Fatigue, Acute myelomonocytic leukemia ORPHA:86843
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Type II diabetes mellitus, Obesity, Myocardial infarction OMIM:618620
Immunodeficiency, Common Variable, 10
Hypoglycemia OMIM:615577
Pearson Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Macronodular cirr... ORPHA:699
Dubin-Johnson Syndrome
Fatigue, Abdominal pain ORPHA:234
Noonan Syndrome-Like Disorder With Loose Anagen Hair
Hypertrophic cardiomyopathy, Pulmonic stenosis ORPHA:2701
New-Onset Refractory Status Epilepticus
Fatigue ORPHA:363558
Osteootohepatoenteric Syndrome
Microvesicular hepatic steatosis, Cholestasis, Portal fibrosis, Hepatic fibrosis, Prolonged neona... OMIM:619377
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Chronic fatigue, Follicular thyroid carcinoma, Pitui... ORPHA:97282
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Hepatomegaly, Hypoglycemia, Splenomegaly, Ragged-red muscle fibers, Conc... OMIM:252010
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Fatigue, Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma ORPHA:44890
Oculodentodigital Dysplasia
Ventricular septal defect, Abnormal dental enamel morphology, Camptodactyly of finger, Hypoglycem... ORPHA:2710
Arachnoiditis
Fatigue, Arthralgia ORPHA:137817
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Atrial septal defect, Joint contracture, Hypoglycemia OMIM:618005
Polyendocrine-Polyneuropathy Syndrome
Type I diabetes mellitus, Hypoglycemia OMIM:616113
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Diabetes mellitus, Congestive heart failure OMIM:229300
Angiostrongyliasis
Fatigue, Abdominal pain, Arthralgia, Myalgia, Neck pain, Pain ORPHA:74
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Inguinal hernia, Abnormal atrioventricular valve physiolog... ORPHA:576
Primary Sclerosing Cholangitis
Fatigue, Portal hypertension, Spider hemangioma, Abdominal pain, Congestive heart failure, Weight... ORPHA:171
Liver Disease, Severe Congenital
Cardiomegaly, Biliary hyperplasia, Aminoaciduria, Elevated hepatic iron concentration, Atrial sep... OMIM:619991
Peroxisome Biogenesis Disorder 9B
Cardiomyopathy OMIM:614879
Cinca Syndrome
Fatigue, Arthralgia, Myalgia ORPHA:1451
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Addison Disease
Fatigue, Orthostatic hypotension, Hypoglycemia, Abdominal pain, Thymoma, Weight loss, Arthralgia,... ORPHA:85138
Acute Radiation Syndrome
Fatigue, Hypotension, Telangiectasia ORPHA:454831
Pituitary Hormone Deficiency, Combined, 6
Hypoglycemia, Neonatal hypoglycemia OMIM:613986
Gaucher Disease Type 3
Fatigue, Mitral valve calcification, Abnormal heart valve morphology, Pericardial effusion, Aorti... ORPHA:77261
Japanese Encephalitis
Fatigue, Skeletal muscle atrophy, Rigors, Facial palsy, Abdominal pain, Elbow flexion contracture... ORPHA:79139
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Small for gestational age, Ventricular septal defect, Cardiomegaly, Flexion contracture, Hypertro... OMIM:616897
Listeriosis
Back pain, Fatigue, Pericarditis, Abdominal pain, Myocarditis, Congestive heart failure, Rhabdomy... ORPHA:533
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Diastasis recti, Neonatal hypoglycemia ORPHA:457485
Wolfram Syndrome 1
Cardiomyopathy, Diabetes mellitus OMIM:222300
Macs Syndrome
Fatigue, Umbilical hernia, Decreased body weight OMIM:613075
Mucopolysaccharidosis-Plus Syndrome
Hepatomegaly, Congestive heart failure, Splenomegaly, Flexion contracture, Macroglossia, Macroves... OMIM:617303
Phakomatosis Pigmentokeratotica
Nephroblastoma, Rhabdomyosarcoma, Raynaud phenomenon, Renal transitional cell carcinoma, Basal ce... ORPHA:2874
Vitamin B12-Unresponsive Methylmalonic Acidemia
Cardiomyopathy ORPHA:27
Dominant Beta-Thalassemia
Diabetes mellitus, Failure to thrive in infancy, Hypoplasia of the musculature, High-output conge... ORPHA:231226
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Raynaud phenomenon, Flexion contracture, Vasculitis, Myopathy... ORPHA:90289
Beckwith-Wiedemann Syndrome
Omphalocele, Diastasis recti, Cardiomegaly, Adrenocortical carcinoma, Macroglossia, Cardiomyopath... OMIM:130650
Spinocerebellar Ataxia, Autosomal Recessive 23
Arrhythmia OMIM:616949
Mirage Syndrome
Intracranial hemorrhage, Hypoplastic spleen, Hypoglycemia OMIM:617053
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Hypertrophic cardiomyopathy, Lower limb amyotrophy ORPHA:496790
Glucocorticoid Deficiency 1
Recurrent hypoglycemia OMIM:202200
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Gastrointestinal stro... OMIM:115310
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Telangiectasia of the skin, Hypoglycemia OMIM:616007
Holoprosencephaly
Omphalocele, Diabetes mellitus, Ventricular septal defect, Abnormal pulmonary valve morphology, C... ORPHA:2162
Noonan Syndrome 6
Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Pulmonic stenosis OMIM:613224
Atypical Werner Syndrome
Skeletal muscle atrophy, Diabetes mellitus, Telangiectasia of the skin, Lipoatrophy, Congestive h... ORPHA:79474
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Gangrene, Epistaxis, Abdominal pain, Congestive heart ... ORPHA:727
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Fatigue, Facial palsy, Limb pain, Arthralgia, Myalgia, Abnorm... ORPHA:297
Glycogen Storage Disease Ic
Hepatomegaly, Hypoglycemia, Spider hemangioma, Chronic pancreatitis, Hypertension, Hepatocellular... OMIM:232240
Adrenomyeloneuropathy
Back pain, Fatigue, Urinary incontinence, Bowel incontinence, Impaired continence, Leg muscle sti... ORPHA:139399
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Inguinal hernia, Small for gestational age, Hypertension, Arrhythmia, Umbilical hernia, Hypertrop... OMIM:614052
Immunodeficiency 31C
Fatigue, Skeletal muscle atrophy, Diabetes mellitus, Weight loss OMIM:614162
Noonan Syndrome 2
Mitral stenosis, Ventricular septal defect, Cardiomyopathy, Hypertrophic cardiomyopathy, Pulmonic... OMIM:605275
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Neoplasm, Thymoma, Proximal amyotrophy OMIM:159400
S-Adenosylhomocysteine Hydrolase Deficiency
Cardiomyopathy, Failure to thrive, Muscular dystrophy ORPHA:88618
Leopard Syndrome 2
Hypertrophic cardiomyopathy OMIM:611554
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Fatigue, Torticollis OMIM:617186
Hypocalciuric Hypercalcemia, Familial, Type Iii
Fatigue, Multiple lipomas, Bone pain, Chondrocalcinosis OMIM:600740
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Jaundice, Aplasia/Hypoplasia of the pancreas, Abnormality of exocr... ORPHA:93111
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Fatigue ORPHA:99832
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Umbilical hernia, Hypertrophic cardiomyopathy, Failure to thrive, Ventricular septal defect OMIM:612938
Ogden Syndrome
Torticollis, Inguinal hernia, Ventricular septal defect, Cardiogenic shock, Arrhythmia ORPHA:276432
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Fatigue OMIM:241150
Alg12-Cdg
Elevated hepatic transaminase, Muscular ventricular septal defect, Biventricular hypertrophy, Rec... ORPHA:79324
Exercise-Induced Malignant Hyperthermia
Prolonged QT interval, Fatigue, Rhabdomyolysis, ST segment depression, Hypotension, Abnormal T-wa... ORPHA:466650
Bone Marrow Failure Syndrome 6
Myalgia, Chronic fatigue, Squamous cell carcinoma of the tongue OMIM:618849
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Disproportionate tall stature, Arthralgia, Chronic fatigue OMIM:619656
Klatskin Tumor
Fatigue, Abdominal pain, Weight loss ORPHA:99978
Hughes-Stovin Syndrome
Fatigue, Pulmonary embolism, Vasculitis, Chest pain, Pulmonary arterial hypertension ORPHA:228116
Non-Functioning Pituitary Adenoma
Fatigue, Increased intraabdominal fat, Hypotension ORPHA:91349
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Inguinal hernia, Bicuspid aortic valve, Mitral atresia, Hypoglycemia, Increased hepatocellular li... OMIM:220111
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated hepatic transaminase, Inguinal hernia, Hypoglycemia, Portal hypertension, Cholestasis, B... OMIM:613658
Autosomal Dominant Hypophosphatemic Rickets
Fatigue, Bone pain ORPHA:89937
Ogden Syndrome
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Microvesic... OMIM:300855
Tsh-Secreting Pituitary Adenoma
Fatigue, Supraventricular arrhythmia, Pericardial effusion, Congestive heart failure, Weight loss... ORPHA:91347
Chronic Myeloid Leukemia
Fatigue, Myeloproliferative disorder ORPHA:521
Myasthenic Syndrome, Congenital, 21, Presynaptic
Exercise intolerance, Weakness of facial musculature, Fatigue, Knee flexion contracture OMIM:617239
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Fatigue, Achilles tendon calcification OMIM:617994
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Insulin resistance, H... ORPHA:508
Friedreich Ataxia
Hand muscle atrophy, Cardiomyopathy, Diabetes mellitus ORPHA:95
Cerebral Visual Impairment
Intracranial hemorrhage, Ischemic stroke, Neonatal hypoglycemia ORPHA:447788
Hurler Syndrome
Aortic regurgitation, Inguinal hernia, Flexion contracture, Macroglossia, Cardiomyopathy, Mitral ... OMIM:607014
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Abdominal pain, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Abdominal cra... OMIM:603041
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Hypertrophic cardiomyopathy, Dilated cardiomyopathy OMIM:614299
Nocardiosis
Fatigue, Pericarditis, Abnormal heart valve morphology, Ocular pain, Night sweats, Endocarditis, ... ORPHA:31204
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Hypoglycemia, Pulmonary embolism, Jaundice, Dilated cardiomyopathy, Subdural hemorrhage, Abnormal... ORPHA:79282
Mucopolysaccharidosis, Type Vi
Inguinal hernia, Tricuspid regurgitation, Flexion contracture, Macroglossia, Cardiomyopathy, Mitr... OMIM:253200
Multiple Endocrine Neoplasia, Type I
Insulinoma, Hypoglycemia, Pancreatic islet cell adenoma, Subcutaneous lipoma OMIM:131100
Hyperglycinemia, Lactic Acidosis, And Seizures
Hypertrophic cardiomyopathy, Joint contracture OMIM:614462
Silver-Russell Syndrome
Insulin resistance, Decreased muscle mass, Recurrent hypoglycemia ORPHA:813
X-Linked Dominant Chondrodysplasia Punctata
Scarring alopecia of scalp, Flexion contracture, Neonatal hypoglycemia ORPHA:35173
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Arrhythmia, Cardiac arrest ORPHA:168593
Wars2-Related Combined Oxidative Phosphorylation Defect
Cardiomyopathy, Generalized amyotrophy, Neonatal hypoglycemia, Limb hypertonia ORPHA:572798
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy, Hypovolemic shock, Impaired myocardial contractility, Camptodactyly... ORPHA:158687
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Torticollis, Hypoglycemia OMIM:620224
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hypoglycemia, Hepatosplenomegaly, Cholecystitis, Umbilical hernia, Cholelithiasis OMIM:301066
Cushing Syndrome Due To Ectopic Acth Secretion
Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic e... ORPHA:99889
Herpes Simplex Virus Encephalitis
Fatigue, Chills ORPHA:1930
Noonan Syndrome 4
Ventricular septal defect, Large for gestational age, Pulmonic stenosis, Atrial septal defect, Hy... OMIM:610733
Leber Optic Atrophy
Myopathy, Arrhythmia OMIM:535000
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Glucagonoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Chronic fatigue, Pituit... ORPHA:97280
Heart-Hand Syndrome Type 2
Arrhythmia ORPHA:1350
Spinocerebellar Ataxia, Autosomal Recessive 33
Arrhythmia OMIM:620208
Brucellosis
Fatigue, Pericarditis, Transient ischemic attack, Small for gestational age, Abdominal pain, Myoc... ORPHA:1304
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated hepatic transaminase, Hepatomegaly, Hepatic steatosis OMIM:615356
Beta-Thalassemia Major
Diabetes mellitus, Failure to thrive in infancy, Hypoplasia of the musculature, High-output conge... ORPHA:231214
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Bowel incontinence, Obesity, Macroglossia, Hern... ORPHA:261494
Multiple Myeloma
Fatigue, Bone pain, Elevated circulating creatinine concentration, Weight loss, Tall stature ORPHA:29073
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Arrhythmia, Camptodactyly of finger ORPHA:3201
Hepatorenocardiac Degenerative Fibrosis
Hypertrophic cardiomyopathy, Portal hypertension OMIM:619902
Immunodeficiency 58
Fatigue, Atrophic scars, Failure to thrive, Verrucae OMIM:618131
Combined Oxidative Phosphorylation Deficiency 27
Microvesicular hepatic steatosis OMIM:616672
Congenital Dyserythropoietic Anemia Type Iii
Melena, Fatigue ORPHA:98870
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Arrhythmia, Aminoaciduria OMIM:273400
Secondary Intestinal Lymphangiectasia
Fatigue, Abdominal colic, B-cell lymphoma, Right ventricular failure, Lymphoma, Intestinal bleedi... ORPHA:90363
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... ORPHA:1359
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
Gm1-Gangliosidosis, Type I
Inguinal hernia, Abnormal heart valve morphology, Congestive heart failure, Dilated cardiomyopath... OMIM:230500
Kabuki Syndrome 2
Atrial septal defect, Atrioventricular canal defect, Neonatal hypoglycemia, Pulmonic stenosis OMIM:300867
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Pancreatic islet-cell hyperplasia, Congenital diaph... OMIM:267000
Martsolf Syndrome 1
Cardiomyopathy, Inguinal hernia, Cardiac arrest, Congestive heart failure OMIM:212720
Hereditary Xanthinuria
Myopathy, Flank pain, Chronic fatigue ORPHA:3467
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, Microvesicular hepatic steato... OMIM:203700
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Jaundice, Hypoglycemia OMIM:615751
Beckwith-Wiedemann Syndrome
Omphalocele, Hepatomegaly, Inguinal hernia, Hypoglycemia, Diastasis recti, Rhabdomyosarcoma, Cong... ORPHA:116
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... OMIM:616503
Immunodeficiency 97 With Autoinflammation
Fatigue, Abdominal pain OMIM:619802
Primary Hyperoxaluria
Heart block, Raynaud phenomenon, Arterial occlusion, Bone pain, Cardiomyopathy, Intermittent clau... ORPHA:416
Gamma-Heavy Chain Disease
Fatigue, Neoplasm of the tongue ORPHA:100026
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Pulmonary insufficiency, Bradycardia, Congenital diaphragmatic hernia OMIM:614437
Acute Liver Failure
Shock, Gastrointestinal hemorrhage, Elevated hepatic transaminase, Hypoglycemia, Jaundice, Hepati... ORPHA:90062
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Exercise intolerance, Glucose intolerance, Glycosuria, Hypertrophic cardiomyopathy, Failure to th... OMIM:616539
Gaucher Disease
Fatigue, Mitral valve calcification, Abnormal heart valve morphology, Abnormal pericardium morpho... ORPHA:355
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Fatigue, Recurrent hypoglycemia, Failure to thrive, Hypotension ORPHA:293978
Hurler Syndrome
Abnormal heart valve morphology, Camptodactyly of finger, Angina pectoris, Macroglossia, Cardiomy... ORPHA:93473
Low Phospholipid-Associated Cholelithiasis
Abdominal colic, Diabetes mellitus, Overweight, Obesity, Hypertension ORPHA:69663
Deafness-Enamel Hypoplasia-Nail Defects Syndrome
Diabetes mellitus, Arrhythmia, Abnormal dental enamel morphology, Camptodactyly of finger ORPHA:3220
Pituitary Stalk Interruption Syndrome
Hypoglycemia ORPHA:95496
Coccidioidomycosis
Fatigue, Pericarditis, Vasculitis, Atypical scarring of skin, Vasospasm, Panniculitis, Cerebral i... ORPHA:228123
Cushing Disease
Diabetes mellitus, Dorsocervical fat pad, Impaired glucose tolerance, Myocardial infarction, Pitu... ORPHA:96253
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Hypothyroidism, Congenital, Nongoitrous, 2
Macroglossia, Umbilical hernia, Bradycardia OMIM:218700
Congenital Enterovirus Infection
Pericardial effusion, Cardiomyopathy, Myocarditis, Hypotension ORPHA:292
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Failure to thrive, Lipodystrophy, Camptodactyly of finger, Impaired gluc... OMIM:256040
Mucopolysaccharidosis Type 1
Inguinal hernia, Abnormal heart valve morphology, Congestive heart failure, Abnormal tendon morph... ORPHA:579
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Back pain, Torticollis, Fatigue, Ventricular septal defect, Bicuspid aortic... OMIM:619475
Functioning Gonadotropic Adenoma
Fatigue, Pituitary gonadotropic cell adenoma ORPHA:91348
Autoimmune Pulmonary Alveolar Proteinosis
Fatigue, Chest pain, Weight loss ORPHA:747
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Congestive heart f... OMIM:617403
Infection-Related Hemolytic Uremic Syndrome
Fatigue, Diabetes mellitus, Abdominal pain, Myocarditis, Hypertension, Abdominal cramps, Hyperten... ORPHA:544482
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Arrhythmia, Weight loss ORPHA:171876
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... ORPHA:99125
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Uterine prolapse, Atrial fibrillation, Inguinal hernia, Camptodactyly of fi... ORPHA:284984
Presynaptic Congenital Myasthenic Syndromes
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... ORPHA:98914
Congenital Myasthenic Syndrome
Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co... ORPHA:590
Inhalational Botulism
Fatigue ORPHA:254504
Overhydrated Hereditary Stomatocytosis
Fatigue, Pulmonary embolism OMIM:185000
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Neonatal hypoglycemia OMIM:608624
Selective Igm Deficiency
Fasciitis, Chronic fatigue, Raynaud phenomenon, Thyroid carcinoma, Multiple myeloma, Non-Hodgkin ... ORPHA:331235
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Fatigue, Diabetes mellitus, Lymphoma, Arthralgia, Myalgia ORPHA:183675
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy OMIM:610773
Ulnar-Mammary Syndrome
Ventricular septal defect, Camptodactyly of finger, Aplasia of the pectoralis major muscle, Obesi... ORPHA:3138
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Inguinal hernia, Arthralgia/arthritis, Chron... ORPHA:558
Acute Transverse Myelitis
Back pain, Fatigue, Orthostatic hypotension, Urinary incontinence, Subarachnoid hemorrhage, Upper... ORPHA:139417
Classical Ehlers-Danlos Syndrome
Fatigue, Orthostatic hypotension, Inguinal hernia, Hiatus hernia, Incisional hernia, Cigarette-pa... ORPHA:287
Alternating Hemiplegia Of Childhood
Facial hypotonia, Cardiac conduction abnormality, Cardiomyopathy, Abnormal T-wave, Arrhythmia, Fa... ORPHA:2131
Mucopolysaccharidosis, Type Vii
Abnormal heart valve morphology, Diastasis recti, Flexion contracture, Macroglossia, Cardiomyopat... OMIM:253220
Agel Amyloidosis
Cardiomyopathy, Arrhythmia, Facial palsy, Orthostatic hypotension due to autonomic dysfunction ORPHA:85448
Malt Lymphoma
Fatigue, Abdominal pain, B-cell lymphoma, Weight loss ORPHA:52417
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, H... ORPHA:464321
Hermansky-Pudlak Syndrome 1
Hematochezia, Cardiomyopathy, Epistaxis, Abdominal pain OMIM:203300
Mitochondrial Dna-Associated Leigh Syndrome
Cardiac conduction abnormality, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertrophic ca... ORPHA:255210
Vici Syndrome
Cardiomyopathy ORPHA:1493
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Jaundice, Hypoglycemia ORPHA:90790
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Pericardial effusion, Splenomegaly, Hepatitis, Hypertrophic cardiomyopathy, Hepatic... OMIM:615846
Hereditary Fructose Intolerance
Hepatomegaly, Jaundice, Chronic hepatic failure, Reactive hypoglycemia ORPHA:469
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Microvesicular hepatic steatosis, Hepatocell... OMIM:618278
Kikuchi-Fujimoto Disease
Fatigue, Myocarditis, Vasculitis, Night sweats, Weight loss, Arthralgia, Myalgia, Vasculitis in t... ORPHA:50918
Penoscrotal Transposition
Cardiomyopathy ORPHA:2842
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Secundum atrial septal defect, Facial diplegia, Hypertrophic cardiomyopathy OMIM:619121
Gallbladder Neuroendocrine Tumor
Chronic fatigue, Episodic abdominal pain, Weight loss, Neoplasm of the nervous system, Neuroendoc... ORPHA:100086
Glycerol Kinase Deficiency
Myopathy, Hypoglycemia, Muscular dystrophy, Chronic pancreatitis OMIM:307030
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Pericardial effusion, Restrictive cardiomyopathy, Right atrial enlargement, Endocardial fibroelas... OMIM:619313
Pyruvate Carboxylase Deficiency
Hepatomegaly, Hyperglycemia, Hypoglycemia ORPHA:3008
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Elevated hepatic transaminase, Hepatomegaly, Nodular regenerative hyperplasia of liver, Splenomeg... ORPHA:404454
Beta-Thalassemia
Hypertrophic cardiomyopathy ORPHA:848
Hypermobile Ehlers-Danlos Syndrome
Fatigue, Inguinal hernia, Genital hernia, Aplasia/Hypoplasia of the abdominal wall musculature, C... ORPHA:285
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Juvenile gastrointestinal polyposi... ORPHA:2929
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Cardiomyopathy, Abnormal cardiac septum morphology, Hernia OMIM:217980
Magel2-Related Prader-Willi-Like Syndrome
Flexion contracture, Increased body weight, Abdominal obesity, Type II diabetes mellitus, Atrial ... ORPHA:398069
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt... ORPHA:168572
Costello Syndrome
Ventricular septal defect, Hypoglycemia, Rhabdomyosarcoma, Achilles tendon contracture, Mitral va... OMIM:218040
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Tachycardia, Tricuspid regurgitation, Congestive heart failure, Flexion contracture, Abnormal hea... ORPHA:505248
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Singleton-Merten Syndrome 2
Aortic valve calcification, Aortic valve stenosis, Arrhythmia OMIM:616298
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Tetrasomy 9P
Fatigue, Myositis, Pericarditis, Dextrocardia, Abnormal dental enamel morphology, Raynaud phenome... ORPHA:3310
Lymphedema-Distichiasis Syndrome
Diabetes mellitus, Arrhythmia, Fibrosarcoma ORPHA:33001
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal... OMIM:618733
Primary Sjögren Syndrome
Fatigue, Myositis, Lymphoproliferative disorder, Raynaud phenomenon, Vasculitis, Lymphoma, Chroni... ORPHA:289390
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Microvesicular hepatic steatosis, Elevated circulating alkaline phosphatase concent... OMIM:300868
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Glutaryl-Coa Dehydrogenase Deficiency
Subdural hemorrhage, Retinal hemorrhage, Fasting hypoglycemia ORPHA:25
Chikungunya
Fatigue, Shoulder pain, Epistaxis, Raynaud phenomenon, Enthesitis, Arthralgia, Myalgia, Chills, K... ORPHA:324625
Aicardi-Goutieres Syndrome 1
Cardiomyopathy, Vasculitis OMIM:225750
Pulmonary Alveolar Microlithiasis
Fatigue, Mitral valve calcification, Right ventricular failure, Increased pulmonary vascular resi... ORPHA:60025
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Severe Generalized Junctional Epidermolysis Bullosa
Enamel hypoplasia, Dilated cardiomyopathy, Bradycardia ORPHA:79404
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Aortic valve stenosis, Pulmonic stenosis, Hypertrophi... OMIM:615415
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Fatigue, Hypertension, Abdominal pain, Pulmonary embolism ORPHA:567546
Usher Syndrome
Myopathy, Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Abnormal dental... ORPHA:886
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Inguinal hernia, Ventricular septal defect, Large for gestational age, Hema... OMIM:607721
Postinfectious Vasculitis
Cerebral vasculitis, Abdominal pain, Raynaud phenomenon, Night sweats, Weight loss, Cardiomyopath... ORPHA:48435
Vici Syndrome
Failure to thrive, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Myopathy, At... OMIM:242840
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Insulin resistance, Decreased muscle mass, Fasting hypoglycemia, Abnormal heart morphology ORPHA:96182
Plague
Fatigue, Tachycardia, Abdominal pain, Hematemesis, Endocarditis, Arthralgia, Chest pain, Hypotens... ORPHA:707
Prolactinoma
Fatigue, Hypotension ORPHA:2965
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy OMIM:619053
Trichothiodystrophy
Multiple joint contractures, Ventricular septal defect, Absence of subcutaneous fat, Squamous cel... ORPHA:33364
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitation, Pulmonic... OMIM:616564
African Trypanosomiasis
Fatigue, Abnormal EKG, Pericarditis, Rigors, Urinary incontinence, Myocarditis, Congestive heart ... ORPHA:3385
Gm1 Gangliosidosis Type 1
Macroglossia, Cardiomyopathy, Abnormal odontoid tissue morphology ORPHA:79255
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Inguinal hernia, Shoulder flexion contracture, Cachexia... ORPHA:800
Noonan Syndrome 14
Aortic regurgitation, Scapular winging, Mitral valve prolapse, Pulmonic stenosis, Hypertrophic ca... OMIM:619745
Bloom Syndrome
Hepatic steatosis, Facial telangiectasia in butterfly midface distribution, Type II diabetes mell... OMIM:210900
Adenocarcinoma Of The Anal Canal
Chronic fatigue, Anal canal adenocarcinoma, Neoplasm of the skeletal system, Abdominal pain, Neop... ORPHA:424016
Wolfram Syndrome
Gastrointestinal hemorrhage, Cardiomyopathy, Diabetes mellitus, Myopathy ORPHA:3463
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Inguinal hernia, Diastasis recti, Cardiomegaly, Congestive heart failure, H... OMIM:252500
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Tendon xanthomatosis, Heart murmur,... ORPHA:391665
Parkinson Disease 20, Early-Onset
Fatigue, Leg muscle stiffness OMIM:615530
Microcephaly 13, Primary, Autosomal Recessive
Restrictive cardiomyopathy, Small for gestational age OMIM:616051
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:99228
Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:881
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal hypoglycemia, Hypotension ORPHA:90791
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2
Atrial septal defect, Arrhythmia, Patent foramen ovale, Enamel hypoplasia OMIM:619184
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Cardiomyopathy, Aminoaciduria OMIM:616084
Tubulointerstitial Nephritis And Uveitis Syndrome
Fatigue, Abdominal pain, Flank pain, Ocular pain, Elevated circulating creatinine concentration, ... ORPHA:91500
Aromatase Deficiency
Hyperlipidemia, Hepatic steatosis ORPHA:91
Mucopolysaccharidosis Type 2
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Abnormal h... ORPHA:580
Primary Biliary Cholangitis
Fatigue, Orthostatic hypotension, Portal hypertension ORPHA:186
Mucopolysaccharidosis Type 2, Severe Form
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... ORPHA:217085
Arima Syndrome
Hepatic steatosis, Hepatic fibrosis, Cirrhosis, Hepatomegaly OMIM:243910
Smith-Lemli-Opitz Syndrome
Hepatomegaly, Ventricular septal defect, Splenomegaly, Cholestatic liver disease, Cirrhosis, Hypo... OMIM:270400
Deeah Syndrome
Hepatomegaly, Decreased heart rate variability, Neonatal hypoglycemia, Exocrine pancreatic insuff... OMIM:619004
Generalized Glucocorticoid Resistance Syndrome
Fatigue, Hypertension, Hypoglycemia ORPHA:786
Mucopolysaccharidosis Type 2, Attenuated Form
Inguinal hernia, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Camptodact... ORPHA:217093
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Noncompaction cardiomyopathy, Tricuspid regurgitation, Myelodysplasia, Congestive heart failure, ... ORPHA:508542
Sarcoidosis
Fatigue, Abnormal cardiac ventricular function, Facial palsy, Portal hypertension, Scarring, Hear... ORPHA:797
Igg4-Related Kidney Disease
Fatigue, Pericarditis, Abdominal pain, Elevated circulating creatinine concentration, Lymphocytom... ORPHA:449395
Aicardi-Goutières Syndrome
Enchondroma, Myositis, Multiple joint contractures, Lipoatrophy, Diabetes mellitus, Cardiomegaly,... ORPHA:51
17Q11 Microdeletion Syndrome
Multiple mucosal neuromas, Brain neoplasm, Pheochromocytoma, Myelodysplasia, Glomus jugular tumor... ORPHA:97685
16P11.2P12.2 Microdeletion Syndrome
Arrhythmia, Tricuspid regurgitation, Camptodactyly of finger ORPHA:261211
Colchicine Poisoning
Myocarditis, Congestive heart failure, Hypovolemia, Hypotension, Cardiogenic shock, Arrhythmia ORPHA:31824
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Uterine prolapse, Atrial fibrillation, Bicuspid aortic valve, Inguinal h... OMIM:613795
Cantú Syndrome
Umbilical hernia, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Hereditary Spherocytosis
Restrictive cardiomyopathy, Myalgia, Chills, Abdominal pain ORPHA:822
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Fatigue ORPHA:300298
Mgat2-Cdg
Ventricular septal defect, Abnormal heart morphology, Reflex asystolic syncope, Arrhythmia, Failu... ORPHA:79329
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Back pain, Arrhythmia, Enthesitis OMIM:106300
Cartilage-Hair Hypoplasia
Heart block, Aplasia/Hypoplasia of the abdominal wall musculature, Cardiomyopathy, Abnormal cardi... ORPHA:175
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Aregenerative Anemia
Fatigue ORPHA:101096
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Schwannoma, Ossifying fibroma, Abnormal heart morphology, Mitral valve... ORPHA:363700
Foodborne Botulism
Arrhythmia, Abdominal pain ORPHA:228371
Familial Hypocalciuric Hypercalcemia
Lipoma, Fatigue, Chondrocalcinosis, Episodic abdominal pain ORPHA:405
Pagod Syndrome
Omphalocele, Sudden cardiac death, Congenital diaphragmatic hernia, Situs inversus totalis, Hypop... ORPHA:991
Pancreatic Triacylglycerol Lipase Deficiency
Fatigue, Abdominal pain, Weight loss ORPHA:309031
1P36 Deletion Syndrome
Abnormal heart valve morphology, Abnormality of the spleen, Dilated cardiomyopathy, Abnormality o... ORPHA:1606
Dehydrated Hereditary Stomatocytosis
Episodic fatigue, Pulmonary venous hypertension, Abdominal pain ORPHA:3202
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Ventricular septal defect, Small for gestational age,... ORPHA:363958
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Witteveen-Kolk Syndrome
Fatigue, Inguinal hernia, Small for gestational age, Congenital diaphragmatic hernia, Obesity, Co... OMIM:613406
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Facial hypotonia, Ventricular septal defect, Congenital diaphragmatic hernia, Di... OMIM:312870
Primary Fanconi Renotubular Syndrome
Hypoglycemia, Generalized aminoaciduria, Glycosuria ORPHA:3337
Kufor-Rakeb Syndrome
Fatigue, Urinary incontinence, Bowel incontinence, Leg muscle stiffness, Hypomimic face ORPHA:306674
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Hepatic steatosis, Foot... OMIM:619503
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Dila... ORPHA:2556
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Mitral valve prolapse, Pulmonic sten... OMIM:609942
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Cachexia, Abnormal subcutaneous fat tissue distribution, B... ORPHA:1328
Lymphedema-Distichiasis Syndrome
Arrhythmia, Tetralogy of Fallot, Ventricular septal defect, Cellulitis OMIM:153400
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Igg4-Related Dacryoadenitis And Sialadenitis
Fatigue, Myositis, Abnormality of the extraocular muscles, Weight loss ORPHA:79078
Leptospirosis
Pericarditis, First degree atrioventricular block, Abdominal pain, Rhabdomyolysis, Retinal hemorr... ORPHA:509
Intellectual Developmental Disorder, Autosomal Dominant 68
Hepatic steatosis OMIM:619934
Cardiac-Urogenital Syndrome
Accessory spleen, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, C... OMIM:618280
Endocardial Fibroelastosis And Coarctation Of Abdominal Aorta
Cardiomyopathy, Mitral regurgitation, Endocardial fibroelastosis OMIM:226100
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Lipoatrophy, Camptodactyly of finger, Increased subcutaneous... ORPHA:3455
Familial Mediterranean Fever
Pericarditis, Myocardial infarction, Abdominal pain, Vasculitis, Arthralgia, Chest pain, Myalgia,... ORPHA:342
Neurooculorenal Syndrome
Dextrocardia, Mitral valve prolapse, Recurrent hypoglycemia, Tetralogy of Fallot with pulmonary s... OMIM:620305
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Neonatal hypoglycemia, Hypovolemia, Hypotension ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Neonatal hypoglycemia, Hypovolemia, Hypotension ORPHA:289548
Leopard Syndrome 1
Bundle branch block, Scapular winging, Complete atrioventricular canal defect, Mitral valve prola... OMIM:151100
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Flexion contracture, Subdural hemorrhage, Retinal hemorrhage, Cardiomyop... ORPHA:90324
Renal Agenesis, Bilateral
Nonketotic hypoglycemia ORPHA:1848
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Arrhythmia, Facial palsy, Ocular pain ORPHA:68
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Bone pain, Mitral valve pro... ORPHA:828
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Enamel hypoplasia, Atypical scarring of ski... OMIM:216400
Toriello-Carey Syndrome
Cardiomyopathy, Abnormal cardiac septum morphology, Tetralogy of Fallot, Pulmonic stenosis ORPHA:3338
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Fatigue, Arthralgia ORPHA:562639
Non-Acquired Panhypopituitarism
Fatigue, Hypoglycemia, Hypotension ORPHA:90695
Anemia, Congenital Dyserythropoietic, Type Iv
Hypertrophic cardiomyopathy, Weight loss OMIM:613673
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Arrhythmia ORPHA:2878
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Arthralgia, Atrial septal defect, Ove... ORPHA:904
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Small for gestational age, Atypical scarring of skin, Hypert... OMIM:133540
Lymphatic Filariasis
Fatigue, Pain ORPHA:2035
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Hypotension, Abdominal pain ORPHA:428
Spondylometaphyseal Dysplasia, Sedaghatian Type
Myocarditis, Arrhythmia, Atrioventricular block ORPHA:93317
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Arthrogryposis multiplex congenita, Arrhythmia, Abdominal pain ORPHA:163746
Zimmermann-Laband Syndrome 1
Cardiomyopathy, Umbilical hernia, Gingival fibromatosis OMIM:135500
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Arrhythmia OMIM:171480
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Facial hypotonia, Neonatal hypoglycemia ORPHA:457359
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Omphalocele, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis re... ORPHA:96334
Oculodentodigital Dysplasia
Atrial septal defect, Arrhythmia, Joint contracture of the 5th finger, Enamel hypoplasia OMIM:164200
Digeorge Syndrome
Ventricular septal defect, Splenomegaly, Cholelithiasis, Truncus arteriosus, Tetralogy of Fallot,... OMIM:188400
Mitochondrial Complex I Deficiency, Nuclear Type 2
Hypertrophic cardiomyopathy OMIM:618222
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Hypertrophic cardiomyopathy, Portal hypertension, Hypomimic face ORPHA:309854
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Sinus bradycardia OMIM:619482
Goodpasture Syndrome
Fatigue, Weight loss, Chest pain, Chills, Pulmonary hemorrhage OMIM:233450
Holoprosencephaly 1
Hypoglycemia, Single ventricle OMIM:236100
Noonan Syndrome
Arrhythmia, Aplasia/Hypoplasia of the abdominal wall musculature, Abnormal pulmonary valve morpho... ORPHA:648
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Renovascular hypertension, Cardiomyopathy, Hypertension,... ORPHA:3472
Combined Pituitary Hormone Deficiencies, Genetic Forms
Fatigue, Hypoglycemia, Hypotension ORPHA:95494
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hepatic steatosis OMIM:619321
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Atrial septal defect, Umbilical hernia, Arrhythmia, Tetra... ORPHA:1519
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Hypertension, Joint contracture of the hand, Hypoglycemia, Camptodactyly OMIM:201750
Choreoacanthocytosis
Peroneal muscle atrophy, Dilated cardiomyopathy, Weight loss, Myopathy, Distal amyotrophy, Muscle... ORPHA:2388
Alström Syndrome
Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, Portal hypertension, Insulin resistance, Dilat... ORPHA:64
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Shock, Neonatal hypoglycemia, Hypovolemia, Hypotension ORPHA:90794
Ivic Syndrome
Arrhythmia ORPHA:2307
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Congestive heart failure, S... OMIM:182250
Ulnar-Mammary Syndrome
Inguinal hernia, Ventricular septal defect, Elbow flexion contracture, Obesity, Arrhythmia OMIM:181450
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Atypical scarring of skin, Vulvodynia, Fatigue, Myalgia ORPHA:95455
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Ventricular septal defect, Failure to thrive in infancy, Pulmon... OMIM:163950
Sotos Syndrome
Hip contracture, Inguinal hernia, Ventricular septal defect, Ankle flexion contracture, Bilateral... ORPHA:821
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrial septal defect, Myocarditis, Arrhythmia OMIM:250220
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Atrial septal defect, Cardiomyopathy, Neoplasm ORPHA:480880
Yunis-Varon Syndrome
Ventricular septal defect, Small for gestational age, Failure to thrive in infancy, Heart murmur,... OMIM:216340
Pmm2-Cdg
Pericarditis, Multiple joint contractures, Angina pectoris, Lipodystrophy, Pericardial effusion, ... 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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