banner
Genes Phenotypes Help, News, Blog

Gene: Pnpla2 MGI:1914103

Log in to follow
Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
patatin-like phospholipase domain containing 2
Synonyms:
0610039C21Rik,  Atgl,  1110001C14Rik,  desnutrin

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

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 Pnpla2 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 Pnpla2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle w... ORPHA:98908
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormality of the shoulder girdle m... ORPHA:565612

The table below shows human diseases predicted to be associated to Pnpla2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Reduced left ventricular ejection fraction, Pedal edema, Hypertension,... ORPHA:563
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating creatine kinase concentration, Elevated hepatic transaminase, ... OMIM:610717
Transient Neonatal Diabetes Mellitus
Failure to thrive, Hypoinsulinemia, Macroglossia, Small for gestational age, Maturity-onset diabe... ORPHA:99886
Plin1-Related Familial Partial Lipodystrophy
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Lipoatrophy, Loss of gluteal subcutaneous ... ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Congenital Generalized Lipodystrophy
Failure to thrive, Precocious puberty in females, Hyperinsulinemia, Hepatomegaly, Macroglossia, S... ORPHA:528
Lipodystrophy, Familial Partial, Type 6
Abdominal obesity, Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, ... OMIM:615980
Pparg-Related Familial Partial Lipodystrophy
Pancreatitis, Hepatomegaly, Hyperuricemia, Loss of subcutaneous adipose tissue in limbs, Splenome... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Pancreatitis, Hepatomegaly, Cellulitis, Splenomegaly, Lipoatrophy, Skeletal muscle hypertrophy, A... ORPHA:2348
Lipodystrophy, Familial Partial, Type 3
Reduced subcutaneous adipose tissue, Type II diabetes mellitus, Hyperinsulinemia, Cirrhosis, Loss... OMIM:604367
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Skeletal muscle hypertrophy, Lipodystrophy, Hypertriglyceridemia, Insulin-resistant ... OMIM:613877
Lipodystrophy, Congenital Generalized, Type 3
Reduced subcutaneous adipose tissue, Hypocalcemia, Hepatomegaly, Splenomegaly, Hepatosplenomegaly... OMIM:612526
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating aspartate ami... OMIM:619048
Severe Neurodegenerative Syndrome With Lipodystrophy
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... ORPHA:363400
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Pancreatitis, Lipoatrophy, Hyperlipidemia, Splenomega... ORPHA:90970
Familial Dilated Cardiomyopathy
Failure to thrive, Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral r... ORPHA:217607
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Type II diabetes mellitus, Hypertriglyceridemia, Childhood-onset truncal obesit... ORPHA:71529
Carnitine Deficiency, Systemic Primary
Failure to thrive, Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Endocardial fibr... OMIM:212140
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Supraventricular arrhythmia, Reduced subcutaneous adipose tissue, Pancreatitis, Hepatomegaly, Lip... ORPHA:280365
Lipe-Related Familial Partial Lipodystrophy
Increased adipose tissue around the neck, Hyperlipidemia, Hepatomegaly, Skeletal muscle hypertrop... ORPHA:435660
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Cirrhosis, Generalized ... ORPHA:79086
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Pedal edema, Cardiomegaly, Abnormal heart morphology, Pal... ORPHA:2041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Anterior hypopituitarism, Endocardial fibroelastosis, Hypoglycemia, C... ORPHA:2022
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... ORPHA:422
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Lipodystr... OMIM:615238
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Right bundle branch block, Atrioventricular block, Palpitations, Syncope, ... ORPHA:99106
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Pancreatitis, Hepatomegaly, Lipoatrophy, Diabetes mellitus, Insulin resistance,... ORPHA:79084
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Coronary Artery Disease, Autosomal Dominant 2
Glucose intolerance, Hyperlipidemia, Sudden cardiac death, Impaired glucose tolerance, Myocardial... OMIM:610947
Short Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Ketotic hypoglycemia, Hepati... ORPHA:26792
Lipodystrophy, Familial Partial, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Lipodystrophy, Loss of subcu... OMIM:151660
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Supraventricular tachycardia, Anomalous pulmonary venous return, Atr... ORPHA:99105
Barth Syndrome
Dilated cardiomyopathy, Abnormal mitochondrial morphology, Endocardial fibroelastosis ORPHA:111
Cidec-Related Familial Partial Lipodystrophy
Hyperlipidemia, Pancreatitis, Hepatomegaly, Skeletal muscle hypertrophy, Loss of gluteal subcutan... ORPHA:435651
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hepatomegaly, Flexion contracture, Elevated hepatic transaminase, Lipodystrophy, Hypertriglycerid... OMIM:615381
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Decreased activity of mitochondrial complex IV, Hypertrophic card... OMIM:618378
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Increased hepatic glycogen content, Hypoketotic hypog... ORPHA:293964
Akt2-Related Familial Partial Lipodystrophy
Hyperlipidemia, Hepatomegaly, Decreased serum leptin, Lipodystrophy, Hypertriglyceridemia, Increa... ORPHA:79085
African Iron Overload
Increased circulating ferritin concentration, Abnormal pancreas morphology, Hepatomegaly, Microno... ORPHA:139507
Primary Pigmented Nodular Adrenocortical Disease
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189439
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Glucose intolerance, Hepatomegaly, Cirrhosis, Eleva... OMIM:606069
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276580
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Glucose intolerance, Testicular atrophy, Hepatomega... OMIM:235200
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Hypertension, Hy... ORPHA:225
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Increased mitochondrial number, Shoulder girdle muscle weakness, EMG: myop... ORPHA:263297
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplas... ORPHA:276575
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Decreased ci... ORPHA:171706
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Alstrom Syndrome
Chronic active hepatitis, Hepatomegaly, Hyperinsulinemia, Decreased response to growth hormone st... OMIM:203800
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hepatomegaly, Macrovesicular hepatic steatosis, Hypertrophic cardiomyopathy, M... OMIM:618234
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Hyperammonemia, Hypoketotic hypoglycemia, Elevated circulating creatine kinase conc... OMIM:255120
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Lipodystrophy, Congenital Generalized, Type 4
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal mu... OMIM:613327
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency
Hepatomegaly, Increased sarcoplasmic glycogen, Cholestasis, Hepatocellular adenoma, Portal fibros... ORPHA:370
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Hepatic steatosis, Insulin-resistant diabetes mellitus, Primary gonadal ins... ORPHA:436182
Lipodystrophy, Congenital Generalized, Type 1
Reduced subcutaneous adipose tissue, Reduced intraabdominal adipose tissue, Hyperinsulinemia, Hep... OMIM:608594
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Small for gestational age, Maturit... ORPHA:324575
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Cholangiocarcinoma, Testicular atrophy, Hepatomegal... ORPHA:465508
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Failure to thrive, Abnormal circulating acetylcarnitine concentration, Hyperinsulinemic hypoglyce... ORPHA:71212
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Endocardial fibroelastosis, Impaired myocardial ... OMIM:607482
Lipodystrophy, Congenital Generalized, Type 2
Reduced subcutaneous adipose tissue, Hyperinsulinemia, Hepatomegaly, Tall stature, Lipodystrophy,... OMIM:269700
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Increased left ventricular end-diastolic volume, Cardiomyocyte hypertrophy, Di... OMIM:611880
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Failure to thrive, Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Cirrhosis, H... ORPHA:369
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Systolic heart murmur, Pedal edema... ORPHA:99103
Glycogen Storage Disease Vi
Hyperlipidemia, Hepatomegaly, Increased hepatic glycogen content, Hypoglycemia, Elevated hepatic ... OMIM:232700
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Hypoketotic hy... ORPHA:276556
Combined Oxidative Phosphorylation Deficiency 52
Adrenal insufficiency, Pancreatitis, Elevated circulating creatine kinase concentration, Elevated... OMIM:619386
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Atrial septal defect, Jaundice, Hypoketotic hypoglycemia, Tachycardia, Arrhythmia, ... ORPHA:26793
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Acquired Partial Lipodystrophy
Insulin resistance, Lipoatrophy, Hepatic steatosis, Myopathy ORPHA:79087
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Fatty replacement of skeletal muscle, Cardiomyopathy, Myopathy OMIM:255100
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Cachexia, Elevated circulating creatine k... ORPHA:42
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Proximal muscle weakness in lower limbs, Weakness of facial muscu... ORPHA:457050
Cardiomyopathy, Dilated, 1L
Reduced systolic function, Sudden cardiac death, Elevated circulating creatine kinase concentrati... OMIM:606685
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... OMIM:604765
Seckel Syndrome 10
Glucose intolerance, Insulin resistance, Elevated hemoglobin A1c, Elevated circulating luteinizin... OMIM:617253
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Abdominal obesity, Glucose intolerance, Paradoxical increased cortisol secretion on dexamethasone... ORPHA:189427
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Synco... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Abnormal Z disc morphology, Internally nucleated skeletal muscle fibers, We... OMIM:618654
Alg9-Cdg
Torticollis, Hypoplasia of the musculature, Hepatomegaly, Periportal fibrosis, Atrial septal defe... ORPHA:79328
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Hepatomegaly, Splenomegaly, Cirrhosis, Increased body weight, Elevated circula... ORPHA:264580
Obesity Due To Congenital Leptin Deficiency
Hyperinsulinemia, Hypoplasia of the ovary, Decreased serum testosterone concentration, Orthostati... ORPHA:66628
Thiamine-Responsive Megaloblastic Anemia Syndrome
Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal defect, Diabetes mellitus... ORPHA:49827
Glycogen Storage Disease Iii
Hyperlipidemia, Hepatomegaly, Elevated circulating creatine kinase concentration, Distal amyotrop... OMIM:232400
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure OMIM:212080
Cardiomyopathy, Dilated, 1Gg
Left ventricular noncompaction, Dilated cardiomyopathy, Cardiogenic shock, Congestive heart failure OMIM:613642
Obesity Due To Leptin Receptor Gene Deficiency
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Orthostati... ORPHA:179494
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Left ventricular hypertrophy, Cerebral ischemia, Sync... ORPHA:90065
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Hemochromatosis, Type 2B
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Elevated tra... OMIM:613313
Hsd10 Mitochondrial Disease
Hypoglycemia, Hypertrophic cardiomyopathy, Abnormal mitochondrial morphology OMIM:300438
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hepatomegaly, Hepatic failure, Abnormal mitochondrial morphology, Cholestasis, Elevated hepatic t... OMIM:618528
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Dilated cardiomyopathy, Congestive heart failure, Sudden card... OMIM:605362
Lipodystrophy, Familial Partial, Type 1
Increased adipose tissue around the neck, Hepatomegaly, Loss of gluteal subcutaneous adipose tiss... OMIM:608600
Klippel-Trénaunay Syndrome
Hepatomegaly, Atrial septal defect, Cellulitis, Tall stature, Hydrops fetalis, Pulmonary embolism... ORPHA:90308
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Coproporphyria, Hereditary
Hepatomegaly, Splenomegaly, Tachycardia, Hypertension, Jaundice OMIM:121300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Hypoketotic hypoglycemia, Macrovesicular hepatic steatosis, Increased circulating l... OMIM:600649
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Multiple lipomas, Ragged-red muscle fibers, Dilated cardiomyopathy, Inc... ORPHA:1349
Hemochromatosis, Type 2A
Increased circulating ferritin concentration, Hepatomegaly, Splenomegaly, Cirrhosis, Hypogonadotr... OMIM:602390
Cardiomyopathy, Dilated, 1Ff
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613286
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure, Left ventricular systolic... OMIM:613172
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Cerebellar hemorrhage, Acute... ORPHA:99901
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Hypertrophic cardiomyopa... OMIM:619705
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right atrial enlargement, Abnormal left ventricular function, Abnormal T-wave, Ele... ORPHA:70591
Obesity Due To Prohormone Convertase I Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Failure to thrive, Hyperinsulinemia, Decreased response to growth hormone stimulation test, Centr... ORPHA:71526
Mitochondrial Trifunctional Protein Deficiency
Elevated circulating acylcarnitine concentration, Failure to thrive, Small for gestational age, H... OMIM:609015
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Sandhoff Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Recurrent respiratory infections, Congestive heart... ORPHA:796
Trimethylaminuria
Hypertension, Tachycardia, Splenomegaly OMIM:602079
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Abnormal muscle glycogen content, Decreased liver function, Failure to thrive, Hepatomegaly, Flex... ORPHA:367
Sensorineural Deafness With Dilated Cardiomyopathy
Dilated cardiomyopathy, Congestive heart failure, Abnormal cardiac ventricular function ORPHA:217622
Infantile Sialic Acid Storage Disease
Failure to thrive, Hepatomegaly, Splenomegaly, Hydrops fetalis, Conjugated hyperbilirubinemia, As... OMIM:269920
Temple Syndrome
Flexion contracture, Small for gestational age, Maturity-onset diabetes of the young, Truncal obe... OMIM:616222
Neutral Lipid Storage Myopathy
Chronic pancreatitis, Hand muscle weakness, Hepatomegaly, Rimmed vacuoles, Pelvic girdle muscle w... ORPHA:98908
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Left ventricular hypertrophy, Hypoketo... ORPHA:746
Body Mass Index Quantitative Trait Locus 19
Hyperlipidemia, Hyperinsulinemia, Increased serum leptin, Hypertriglyceridemia, Insulin resistanc... OMIM:617885
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hepatic failure, Hypoketotic hypo... ORPHA:228305
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Chromosome 6Q24-Q25 Deletion Syndrome
Atrial septal defect, Tricuspid regurgitation, Dysplastic pulmonary valve, Mitral valve prolapse,... OMIM:612863
Loeffler Endocarditis
Right bundle branch block, Weight loss, Pericarditis, Myocardial fibrosis, Abnormal morphology of... ORPHA:75566
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Cardiomyopathy, Dilated, 1Hh
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613881
Cardiomyopathy, Dilated, 1Ee
Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Congestive heart failure OMIM:613252
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Myopathy, Myosin Storage, Autosomal Recessive
Right axis deviation, Scapuloperoneal amyotrophy, Calf muscle hypertrophy, EMG: myopathic abnorma... OMIM:255160
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Carnitine-Acylcarnitine Translocase Deficiency
Cardiac arrest, Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circula... OMIM:212138
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Low-output congestive heart failure, Abnormality of the mitochondrion, Hypertrophic car... ORPHA:91130
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Mody
Glucose intolerance, Exocrine pancreatic insufficiency, Hypoinsulinemia, Hyperinsulinemic hypogly... ORPHA:552
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98855
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Growth Hormone Insensitivity Syndrome
Failure to thrive, Type II diabetes mellitus, Truncal obesity, Hypoglycemia, Diabetes mellitus, I... ORPHA:181393
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Pulmonary edema, Macroglossia, Myopathy, Cyanosis, Hypotension, Shorten... OMIM:261740
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Elevated circulating aspartate aminotransferase concentration... OMIM:614921
Mulibrey Nanism
Myocardial fibrosis, Congestive heart failure, Hepatomegaly, Hydrops fetalis, Recurrent lower res... OMIM:253250
Mandibuloacral Dysplasia
Glucose intolerance, Increased adipose tissue around the neck, Hyperinsulinemia, Lipoatrophy, Inc... ORPHA:2457
Polymyositis
Abnormal mitral valve morphology, Abnormal muscle fiber morphology, Hepatomegaly, Chondrocalcinos... ORPHA:732
Congenital Pulmonary Lymphangiectasia
Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Splenomegaly, Pulmonic stenosis, Cyanosi... ORPHA:2414
Ethanolaminosis
Cardiomegaly OMIM:227150
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:615440
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Splenomegaly, Elevated hepatic transaminase, Hypertriglyceridemia, Hepatic fibrosis... OMIM:614480
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Dilated cardiomyopathy, Congestive heart failure OMIM:611879
Hypermethioninemia Due To Adenosine Kinase Deficiency
Decreased liver function, Failure to thrive, Atrial septal defect, Hyperbilirubinemia, Pulmonic s... OMIM:614300
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy OMIM:615119
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Absent ankle pulse, Myocardial infarction, Abnormality of venous ph... ORPHA:90064
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia, Hypertriglyceridemia, Myopathy ORPHA:366
19P13.12 Microdeletion Syndrome
Hyperlipidemia, Atrial septal defect, Precocious puberty, Mitral regurgitation, Arrhythmia, Ventr... ORPHA:254346
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight, Diabetes mellitus OMIM:613375
Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98853
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Abnormal heart morphology, Decreased liver function, Failure to thrive, Hypertrophic cardiomyopat... ORPHA:70472
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Classic Multiminicore Myopathy
Failure to thrive, Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrop... ORPHA:324604
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Left ventricular hypertrophy, Cyanosis, Tachycardia, Internal hemo... ORPHA:335
Mitochondrial Complex I Deficiency, Nuclear Type 20
Microvesicular hepatic steatosis, Hepatic failure, Hypoglycemia, Elevated hepatic transaminase, D... OMIM:611126
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Lipoatrophy, Mitral regurgitation, Intracranial hemorrhage, Mitral valve c... ORPHA:363618
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatocellular necrosis, Hepatomegaly, Periportal fibrosis, Hyperammonemia, Sudden cardiac death,... OMIM:201475
Carvajal Syndrome
Dilated cardiomyopathy, Congestive heart failure ORPHA:65282
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Abnormal pulmonary valve morphology, Hepatomegaly, Flexion contracture, Hyperammonemia, Camptodac... ORPHA:1194
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Hepatic failure, Hypoketotic hypoglycemia, Cyanosis, Arrhythmia, Hypotension, Rhabd... ORPHA:159
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hepatosplenomegaly, Abnormal pulmonary interstitial morphology, Hypothyroidism, Hypertriglyceride... OMIM:619013
Lysosomal Acid Lipase Deficiency
Hepatomegaly, Hepatic failure, Steatorrhea, Elevated circulating aspartate aminotransferase conce... OMIM:278000
Dysbetalipoproteinemia
Angina pectoris, Hepatomegaly, Increased LDL cholesterol concentration, Decreased HDL cholesterol... ORPHA:412
Cardiomyopathy, Dilated, 1K
Dilated cardiomyopathy, Gallop rhythm, Congestive heart failure OMIM:605582
Atypical Werner Syndrome
Telangiectasia of the skin, Hyperinsulinemia, Glycosuria, Abnormality of circulating leptin level... ORPHA:79474
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating acylcarnitine concentration, Hyperlipidemia, Hepatomegaly, Hepatic failure, ... ORPHA:228308
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Tachycardia, Ventricular septal defect, Hypertension, ... OMIM:613870
Combined Oxidative Phosphorylation Deficiency 34
Failure to thrive, Hepatomegaly, Hepatic failure, Hypoglycemia, Primary adrenal insufficiency, Hy... OMIM:617872
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
X-Linked Emery-Dreifuss Muscular Dystrophy
Supraventricular arrhythmia, Decreased cervical spine flexion due to contractures of posterior ce... ORPHA:98863
Combined Oxidative Phosphorylation Deficiency 28
Polyhydramnios, Ragged-red muscle fibers, Increased serum pyruvate, Congestive heart failure OMIM:616794
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Congenital Muscular Dystrophy Due To Lmna Mutation
Flexion contracture, Cachexia, Arrhythmia, Skeletal muscle atrophy, Myopathy, Congestive heart fa... ORPHA:157973
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Foot dorsiflexor weakness, Distal amyotrophy, Elevated hepatic transaminase, Mildly elevated crea... OMIM:618400
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Increased LDL cholesterol concentration, Elevated hepatic transaminase,... OMIM:616829
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Cholestasis, Heart mur... ORPHA:615
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoketotic hypoglycemia, Tachycardia, Reactive ... ORPHA:276608
Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Hyperlipidemia, Pancreatitis, Hepatomegaly, Abnormality of the shoulder girdle m... ORPHA:565612
Rapidly Involuting Congenital Hemangioma
Telangiectasia of the skin, Lipoatrophy, Hepatic hemangioma, Congestive heart failure ORPHA:141184
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypo... OMIM:256450
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoketotic h... ORPHA:79299
Insulin-Resistance Syndrome Type B
Hyperinsulinemia, Abnormal circulating fatty-acid concentration, Glycosuria, Abnormality of circu... ORPHA:2298
Cardiomyopathy, Familial Hypertrophic, 4
Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Right bundle branch block... OMIM:115197
Craniofaciofrontodigital Syndrome
Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aortic valve stenosis, Mac... ORPHA:363705
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatic failure, Cirrhosis, Cholestasis, Hyp... OMIM:617156
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated circulating acylcarnitine concentration, Decreased liver function, Hepatomegaly, Hyperam... ORPHA:26791
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyp... OMIM:601820
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Failure to thrive, Atrial septal defect, Polyhydramnios, Diabetes insipidus, Facial hypotonia, De... ORPHA:500533
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Decreased mitochondrial number, Myopathy ORPHA:352470
Maternal Uniparental Disomy Of Chromosome X
Predominantly lower limb lymphedema, Flexion contracture, Hepatic failure, Camptodactyly of finge... ORPHA:261519
Barth Syndrome
Tricuspid regurgitation, Arrhythmia, Abnormal mitochondrial morphology, Increased left ventricula... OMIM:302060
Cardiomyopathy, Familial Hypertrophic, 1
Asymmetric septal hypertrophy, Subvalvular aortic stenosis, Arrhythmia, Congestive heart failure OMIM:192600
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Proteasome-Associated Autoinflammatory Syndrome 1
Flexion contracture of finger, Hepatomegaly, Elevated circulating C-reactive protein concentratio... OMIM:256040
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Cardiomyopathy, Congestive heart failure OMIM:616198
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Congenital Disorder Of Glycosylation, Type Ia
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Hypergonadotropic hypogonadism... OMIM:212065
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Enlarged kidney, Ele... OMIM:608836
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Arrhythmia, Ragged-red muscle fibers, Dilated cardiomyopathy, Gen... ORPHA:352447
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Impaired gluconeogenesis, Hepatic failure OMIM:261650
Subaortic Stenosis-Short Stature Syndrome
Type II diabetes mellitus, Inguinal hernia, Membranous subvalvular aortic stenosis, Abnormal circ... ORPHA:3191
Werner Syndrome
Slender build, Telangiectasia of the skin, Type II diabetes mellitus, Lipoatrophy, Thyroid carcin... ORPHA:902
Cardiomyopathy, Dilated, 1Bb
Left bundle branch block, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:612877
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Alg12-Cdg
Failure to thrive, Abnormal adipose tissue morphology, Muscular ventricular septal defect, Campto... ORPHA:79324
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Hepatic failure, Left ventricular hypertrophy, Increased serum pyruvate, Hyperglutaminemia, Eleva... OMIM:619355
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Failure to thrive, Exocrine pancreatic insufficiency, Cholestatic liver disease, Hepatomegaly, Mi... OMIM:619418
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... ORPHA:137675
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Arrhythmia, Mitochondrial respiratory chain defects, Ventricular preexcit... ORPHA:104
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Increased body weight, Adrenal hyperplasia, Primary hyperco... OMIM:615830
Butyrylcholinesterase Deficiency
Myocardial infarction, Abnormality of the liver, Congestive heart failure ORPHA:132
Bardet-Biedl Syndrome 2
Bicuspid aortic valve, Atrial septal defect, Dilated cardiomyopathy, Diabetes mellitus, Obesity, ... OMIM:615981
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatocellular necrosis, Failure to thrive, Hepatomegaly, Micronodular cirrhosis, Periportal fibr... OMIM:251880
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Fulminant hepatic failure, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Hypoglycemic seizure... OMIM:231530
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Hepatic failure, Sudden cardiac death, Arrhythmia, Hypoglycemia, Elevated hepatic t... ORPHA:156
Variegate Porphyria
Tachycardia OMIM:176200
Hyperinsulinemic Hypoglycemia, Familial, 3
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Diabetes mellitus OMIM:602485
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Omphalocele, U... ORPHA:1686
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal enzyme/coenzyme activity, Abnormal heart morphology ORPHA:79264
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia,... OMIM:610021
Familial Chylomicronemia Syndrome
Failure to thrive, Decreased body weight, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Pulmonary... ORPHA:444490
Triokinase And Fmn Cyclase Deficiency Syndrome
Pancreatitis, Hepatomegaly, Dilated cardiomyopathy, Elevated circulating alanine aminotransferase... OMIM:618805
Solitary Fibrous Tumor/Hemangiopericytoma
Neoplasm of the liver, Hypophosphatemic rickets, Hypoinsulinemia, Neoplasm of the lung, Abnormali... ORPHA:2126
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Idiopathic Neonatal Atrial Flutter
Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmia, Abnormal QRS comple... ORPHA:45452
Mandibuloacral Dysplasia With Type B Lipodystrophy
Glucose intolerance, Hyperinsulinemia, Hyperlipidemia, Flexion contracture, Loss of truncal subcu... OMIM:608612
9Q31.1Q31.3 Microdeletion Syndrome
Bicuspid aortic valve, Type II diabetes mellitus, Renovascular hypertension, Aortic regurgitation... ORPHA:401923
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Rimmed vacuoles, Increased variability in muscle fiber diameter, El... ORPHA:52430
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Hypertriglyceridemia 1
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:145750
Hyperlipoproteinemia, Type Iv
Hypertriglyceridemia, Glucose intolerance, Hypopituitarism, Increased VLDL cholesterol concentration OMIM:144600
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology, Lower limb muscle weakness, Ragged-red muscle fibers, Lower li... ORPHA:99013
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Failure to thrive, Flexion contracture, Recurrent upper respiratory tract infections, Decreased s... ORPHA:391372
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Wild Type Attr Amyloidosis
Pulmonary edema, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, Arrhythmia, ... ORPHA:330001
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Failure to thrive, Right ventricular hypertrophy, Left ventricula... ORPHA:444013
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Elevated circulating alkaline phos... ORPHA:263455
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Muscle fiber atrophy, Secundum atrial septal defect, Flexion contracture, Diaphragmatic eventrati... OMIM:616866
Combined Oxidative Phosphorylation Deficiency 10
Failure to thrive, Small for gestational age, Arrhythmia, Hypoglycemia, Hyperalaninemia, Hypertro... OMIM:614702
3-Methylglutaconic Aciduria, Type V
Microvesicular hepatic steatosis, Sudden cardiac death, Noncompaction cardiomyopathy, Dilated car... OMIM:610198
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Congestive heart failure, Atrial septal defect, Systolic hear... ORPHA:980
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Failure to thrive, Hepatomegaly, Splenomegaly, Elevated circulating cre... OMIM:608779
Dk1-Cdg
Failure to thrive, Arrhythmia, Cardiomyocyte hypertrophy, Elevated hepatic transaminase, Intersti... ORPHA:91131
Galactokinase Deficiency
Failure to thrive, Hyperinsulinemia, Hepatomegaly, Small for gestational age, Hypergonadotropic h... ORPHA:79237
Polyendocrine-Polyneuropathy Syndrome
Type II diabetes mellitus, Decreased serum testosterone concentration, Hypoinsulinemia, Proximal ... ORPHA:453533
Acquired Methemoglobinemia
Palpitations, Tachycardia, Arrhythmia, Cyanosis, Syncope, Hypoxemia ORPHA:464453
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal C-peptide level, Hypoglycemia, Fasting hyperinsulinemia, ... ORPHA:263458
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... ORPHA:85451
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Cyanosis, Tachycardia, ... ORPHA:3426
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Supraventricular arrhythmia, Multiple joint contractures, Decreased ser... ORPHA:2959
Mandibuloacral Dysplasia With Type A Lipodystrophy
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperinsulinemia, ... OMIM:248370
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypoglycemia, Bronchitis, Hypothyro... OMIM:601005
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Cyanosis, Hypertrophic cardiomyopathy OMIM:610773
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Insulin resistance, Reactive hypoglycemia, Nonketotic hypoglycemia... ORPHA:411593
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Muscular Dystrophy, Duchenne Type
Hamstring contractures, Flexion contracture, Calf muscle hypertrophy, Muscular dystrophy, Elevate... OMIM:310200
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Dilated cardiomyopathy, Ventricular tachycardia, Increased left ventricular... OMIM:615184
Cednik Syndrome
Hypogonadism, Congestive heart failure ORPHA:66631
Potocki-Lupski Syndrome
Failure to thrive, Atrial septal defect, Small for gestational age, Hypothyroidism, Hypocholester... OMIM:610883
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Gm1 Gangliosidosis
Failure to thrive, Congestive heart failure, Inguinal hernia, Splenomegaly, Aspiration pneumonia,... ORPHA:354
Hyperinsulinemic Hypoglycemia, Familial, 5
Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemic seizures OMIM:609968
Aicardi-Goutieres Syndrome 9
Failure to thrive, Hepatomegaly, Left ventricular hypertrophy, Hepatosplenomegaly, Acute pancreat... OMIM:619487
Pearson Syndrome
Exocrine pancreatic insufficiency, Hepatomegaly, Hepatic failure, Steatorrhea, Corneal stromal ed... ORPHA:699
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... OMIM:620058
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Dilated cardiomyopathy, Ventricular fibrillation... OMIM:619747
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Andersen-Tawil Syndrome
Torsade de pointes, Abnormal T-wave, Premature ventricular contraction, Polymorphic ventricular t... ORPHA:37553
Salih Myopathy
Flexion contracture, Mitochondrial depletion, Calf muscle hypertrophy, Arrhythmia, Dilated cardio... OMIM:611705
Infant Acute Respiratory Distress Syndrome
Cyanosis, Tachycardia, Hypotension, Hypoxemia, Cardiac arrest, Bradycardia ORPHA:70587
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Hyperinsulinemic hypoglycemia, Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Diabete... OMIM:616033
3-Methylglutaconic Aciduria Type 4
Hypoglycemia, Decreased liver function, Failure to thrive, Cardiomyopathy ORPHA:67048
Adrenocortical Carcinoma
Lung adenocarcinoma, Paradoxical increased cortisol secretion on dexamethasone suppression test, ... ORPHA:1501
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypocholesterolemia, Hepatomegaly, Hypersplenism, Splenomegaly OMIM:610539
Gm1-Gangliosidosis, Type I
Hepatomegaly, Inguinal hernia, Splenomegaly, Hydrops fetalis, Dilated cardiomyopathy, Abnormal he... OMIM:230500
Immune-Mediated Necrotizing Myopathy
Muscle fiber necrosis, Raynaud phenomenon, Proximal muscle weakness in lower limbs, EMG: myopathi... ORPHA:206569
Squalene Synthase Deficiency
Bicuspid aortic valve, Increased circulating farnesol concentration, Hypocholesterolemia, Decreas... OMIM:618156
Citrullinemia Type Ii
Acute hyperammonemia, Hyperlipidemia, Pancreatitis, Hepatomegaly, Hypoproteinemia, Delayed menarc... ORPHA:247585
Tenorio Syndrome
Hypoinsulinemia, Macroglossia, Raynaud phenomenon, Syncope, Hypoglycemia, Pneumonia OMIM:616260
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachycardia, Arrhythmia, Hypotension, Elevated hepatic transaminase, Reduced left ventricular eje... ORPHA:542323
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Snakebite Envenomation
Muscle fiber necrosis, Intracranial hemorrhage, Tachycardia, Cardiogenic shock, Hypotension, Cere... ORPHA:449285
Glycerol Kinase Deficiency
Adrenal insufficiency, Small for gestational age, Muscular dystrophy, Hypoglycemia, Hypertriglyce... OMIM:307030
Desminopathy
Supraventricular arrhythmia, Concentric hypertrophic cardiomyopathy, Weakness of facial musculatu... ORPHA:98909
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
16P12.1P12.3 Triplication Syndrome
Atrial septal defect, Tachycardia, Abnormal intrahepatic bile duct morphology, Abnormal tricuspid... ORPHA:485405
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Hepatic failure, Cyanosis, Low plasma citrulline, Hypoglycemia, Elevated circulatin... OMIM:261680
Ddost-Cdg
Failure to thrive, Elevated hepatic transaminase, Lipodystrophy, Primary hypothyroidism, Hepatic ... ORPHA:300536
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Elevated hepatic transaminase, Cardiomegaly, Cardiomy... OMIM:617713
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Increased muscle glycogen content, Tachycardia, ... ORPHA:368
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Abnormal myocardium morphology, Transient ischemic a... ORPHA:324
Perlman Syndrome
Hyperinsulinemia, Abnormal pancreas morphology, Hepatomegaly, Inguinal hernia, Tall stature, Femo... ORPHA:2849
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Failure to thrive, Hepatomegaly, Flexion contracture, Steatorrhea, Pancreatic fibrosis, Hypothyro... OMIM:616263
Monosomy 13Q34
Infantile hypercalcemia, Pulmonic stenosis, Epistaxis, Hematochezia, Common atrium, Insulin resis... ORPHA:96168
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Abetalipoproteinemia
Failure to thrive, Abnormal circulating apolipoprotein concentration, Hepatomegaly, Hyperbilirubi... ORPHA:14
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Tricuspid regurgitation, Mitral regurgitation, Mitral valve prolapse, Cont... ORPHA:324410
Obesity Due To Sim1 Deficiency
Glucose intolerance, Hyperinsulinemia, Hypotension, Postural hypotension with compensatory tachyc... ORPHA:369873
Pyruvate Dehydrogenase E3 Deficiency
Failure to thrive, Hepatomegaly, Hepatic failure, Hyperammonemia, Hyperisoleucinemia, Hypoglycemi... ORPHA:2394
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Failure to thrive, Pancreatitis, Inguinal hernia, Tall stature, Disproportionate tall stature, Hy... OMIM:236200
Retinitis Pigmentosa
Hyperinsulinemia, Type II diabetes mellitus, Atypical scarring of skin, Hypogonadism, Obesity ORPHA:791
Dominant Beta-Thalassemia
Hypoparathyroidism, Adrenal insufficiency, High-output congestive heart failure, Hypoplasia of th... ORPHA:231226
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, E... OMIM:614582
Pediatric-Onset Graves Disease
Failure to thrive, Graves disease, Hepatomegaly, Splenomegaly, Palpitations, Increased circulatin... ORPHA:525731
Mucopolysaccharidosis-Plus Syndrome
Recurrent bronchopulmonary infections, Hepatomegaly, Atrial septal defect, Splenomegaly, Flexion ... OMIM:617303
3-Methylglutaconic Aciduria, Type Viib
Flexion contracture, Dehydration, Polyhydramnios, Recurrent pneumonia, Neonatal hypoglycemia, Hep... OMIM:616271
Dihydrolipoamide Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Hypertrophic... OMIM:246900
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Neutral Lipid Storage Disease With Ichthyosis
Hepatomegaly, Micronodular cirrhosis, EMG: myopathic abnormalities, Increased intramyocellular li... ORPHA:98907
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased cir... OMIM:601494
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Failure to thrive, Hyperinsulinemia OMIM:606528
Combined Oxidative Phosphorylation Deficiency 54
Lower limb muscle weakness, Tachycardia, Hyperglycemia OMIM:619737
Donohue Syndrome
Postprandial hyperglycemia, Hyperinsulinemia, Precocious puberty, Severe failure to thrive, Chole... OMIM:246200
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure ORPHA:324588
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased circulating cortisol level, Increased body weight, Macronodular adre... OMIM:615954
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... ORPHA:2299
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Tricuspid regurgitation, Mitral regurgitation, Short chordae tendineae of ... OMIM:314400
Refsum Disease, Classic
Arrhythmia, Limb muscle weakness, Elevated levels of phytanic acid, Cardiomyopathy, Cardiomegaly,... OMIM:266500
Mandibuloacral Dysplasia Progeroid Syndrome
Glucose intolerance, Hepatomegaly, Tricuspid regurgitation, Flexion contracture, Left ventricular... OMIM:619127
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Nonalcoholic, Susceptibility To, 2
Hepatic steatosis OMIM:613387
American Trypanosomiasis
Hepatomegaly, Splenomegaly, Arrhythmia, Myocarditis, Periorbital edema, Edema, Achalasia, Cardiom... ORPHA:3386
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Hyperinsulinemic hypoglycemia, Increased circu... ORPHA:79644
Combined Oxidative Phosphorylation Deficiency 22
Hyperalaninemia, Failure to thrive, Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Insulinoma
Abnormality of the pancreatic islet cells, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Neopl... ORPHA:97279
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology, Generalized amyotrophy ORPHA:275872
Graft Versus Host Disease
Elevated circulating alkaline phosphatase concentration, Jaundice, Dupuytren contracture, Hepatos... ORPHA:39812
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscle fiber atrophy, Hepatomegaly, Muscular dystrophy, Abnormal circulating creatine kinase conc... ORPHA:369840
Myotonic Dystrophy 2
Type II diabetes mellitus, Premature ventricular contraction, Type 2 muscle fiber atrophy, Palpit... OMIM:602668
Friedreich Ataxia
Hypertrophic cardiomyopathy, Abnormal EKG, Congestive heart failure, Diabetes mellitus OMIM:229300
Babesiosis
Hepatomegaly, Splenomegaly, Hepatic failure, Myocardial infarction, Recurrent pharyngitis, Jaundi... ORPHA:108
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Failure to thrive, Microvesicular hepatic steatosis, Hepatomegaly, Acute hepatic failure, Cirrhos... OMIM:256810
Smith-Magenis Syndrome
Abnormality of the thyroid gland, Hypertriglyceridemia, Hypercholesterolemia, Increased body weig... OMIM:182290
Citrullinemia, Type Ii, Adult-Onset
Pancreatitis, Hyperammonemia, Hyperargininemia, Hepatocellular carcinoma, Hypertriglyceridemia, C... OMIM:603471
3-Methylglutaconic Aciduria Type 7
Neonatal hypoglycemia, Hypothyroidism, Elevated hepatic transaminase, Pneumothorax, Hepatic steat... ORPHA:445038
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Glucose intolerance, Failure to thrive, Impaired glucose tolerance, Joint contracture of the 5th ... OMIM:614407
Primary Sclerosing Cholangitis
Cholelithiasis, Cholangiocarcinoma, Pancreatitis, Hepatomegaly, Cholestasis, Chronic hepatic fail... ORPHA:171
Dilated Cardiomyopathy With Ataxia
Microvesicular hepatic steatosis, Muscular ventricular septal defect, Diaphragmatic eventration, ... ORPHA:66634
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Type II diabetes mellitus, Hypergonadotropic hypogonadism, Keloids, Obesity ORPHA:3085
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatomegaly, Splenomegaly, Ketotic hypoglycemia, Cirrhosis, Increased body weight, Hepatocellula... ORPHA:79240
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Congestive heart failure OMIM:619751
Hereditary Coproporphyria
Proximal muscle weakness in lower limbs, Tachycardia, Hepatocellular carcinoma, Atypical scarring... ORPHA:79273
Fabry Disease
Angina pectoris, Left ventricular hypertrophy, Arrhythmia, Myocardial infarction, Lymphedema, Ven... OMIM:301500
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Splenomegaly, Hydrops fetalis, Polyhydramnios, Pericarditis, Oligohydramnios, Conge... ORPHA:163596
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Abnormal enzyme/coenzyme activity, Flexion contracture, Abnormal mitochondrial shap... ORPHA:17
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... OMIM:618839
Beta-Thalassemia Major
Hypoparathyroidism, Adrenal insufficiency, High-output congestive heart failure, Hepatomegaly, Hy... ORPHA:231214
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Eosinophilic Granulomatosis With Polyangiitis
Abnormal pericardium morphology, Recurrent intrapulmonary hemorrhage, Endocarditis, Myositis, Abn... ORPHA:183
Propionic Acidemia
Hepatomegaly, Hyperammonemia, Arrhythmia, Hypoglycemia, Cardiomyopathy ORPHA:35
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Abnormality of the thyroid gland, Hypothyroidism, Hyperurice... ORPHA:77296
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Decreased circulating cortisol level, Elevated circulating creatine kin... OMIM:618835
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Dilated cardiomyopathy, Congestive heart failure OMIM:614672
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Hepatic failure, Atrioventri... OMIM:619573
Chromosome 18Q Deletion Syndrome
Absence of the pulmonary valve, Atrial septal defect, Aortic valve stenosis, Dysplastic pulmonary... OMIM:601808
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Hyperammonemia, Elevated circulating creatine kinase concentration, Hypoglycemia, Rhabdomyolysis,... OMIM:618120
Low Phospholipid-Associated Cholelithiasis
Cholelithiasis, Neoplasm of the liver, Pancreatitis, Hepatocellular carcinoma, Sclerosing cholang... ORPHA:69663
Porphyria Cutanea Tarda
Corneal scarring, Increased circulating ferritin concentration, Viral hepatitis, Periportal fibro... ORPHA:101330
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Maturity-onset diabetes of the young, Obesity, Precocious puberty, Hypercholesterolemia ORPHA:254531
Insulinomatosis And Diabetes Mellitus
Type II diabetes mellitus, Hyperinsulinemic hypoglycemia, Impaired glucose tolerance, Insulinoma,... OMIM:147630
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Nonimmu... OMIM:618838
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Limb hypertonia, Dilated cardiomyopathy, Facial myokymia, Congestive heart failure OMIM:606703
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Glucose intolerance, Hepatomegaly, Splenomegaly, Hepatic failure, Cholestasis, Impaired glucose t... OMIM:615630
Congenital Analbuminemia
Hyperlipidemia, Low pulse pressure, Facial edema, Hypoproteinemia, Small for gestational age, Inc... ORPHA:86816
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Hepatomegaly, Atrioventricular canal defect, Heart ... ORPHA:97214
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated hepatic transaminase, Decreased activity of mitochondrial complex IV, Pulm... OMIM:619064
Hydrops Fetalis, Nonimmune
Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Atrial septal defect, Small for gestational age, Hyperammonemia, Increa... OMIM:615160
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Reduced TSH response to thyrotrophin-releasing hormo... OMIM:619326
Lipodystrophy, Familial Partial, Type 7
Reduced subcutaneous adipose tissue, Orthostatic hypotension, Lipodystrophy, Lack of facial subcu... OMIM:606721
Glycogen Storage Disease Ixa1
Hepatomegaly, Splenomegaly, Hypoglycemia, Elevated hepatic transaminase, Hypertriglyceridemia, Hy... OMIM:306000
Wild Type Abeta2M Amyloidosis
Abnormality of the thenar eminence, Macroglossia, Abnormal tendon morphology, Arrhythmia, Gastroi... ORPHA:85446
Erdheim-Chester Disease
Joint swelling, Abnormal pericardium morphology, Hypogonadotropic hypogonadism, Abnormal aortic v... ORPHA:35687
Leptin Deficiency Or Dysfunction
Recurrent upper respiratory tract infections, Decreased serum leptin, Recurrent pneumonia, Hypogo... OMIM:614962
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Mitral regurgitation, Pulmonary insufficiency, Hypogonadotropic hy... ORPHA:2326
Liver Disease, Severe Congenital
Increased circulating ferritin concentration, Exocrine pancreatic insufficiency, Hepatomegaly, He... OMIM:619991
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Pulmonary venous hypertension, Pancreatitis, Hepatomegaly, Hepatocellular adenoma, Enlarged kidne... ORPHA:79259
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Decreased liver function, Failure to thrive, Microvesicular hepatic steatosis, Cholestasis, Hypog... OMIM:124000
Hyperinsulinemic Hypoglycemia, Familial, 6
Failure to thrive, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia, Asym... OMIM:606762
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Failure to thrive, Hepatic steatosis, Elevated hepatic transaminase OMIM:617093
Leigh Syndrome
Failure to thrive, Multiple joint contractures, Hepatic failure, Ventricular septal defect, Hypog... ORPHA:506
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Abnormal enzyme/coenzyme activity, Tachycardia, Neonatal hypoglycemia, Hypoglycemia... ORPHA:348
Porphyria Variegata
Abnormal enzyme/coenzyme activity, Tachycardia, Hepatocellular carcinoma, Elevated hepatic transa... ORPHA:79473
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Mucopolysaccharidosis, Type Ii
Hepatomegaly, Flexion contracture, Splenomegaly, Inguinal hernia, Macroglossia, Hepatosplenomegal... OMIM:309900
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Polyhydramnios, Hypocholesterolemia, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Tetrasomy 5P
Failure to thrive, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, Heart murmur, ... ORPHA:3309
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Hepatomegaly, Micronodular cirrhosis, Jaundice, Elevated hepatic transa... OMIM:301045
Amoebiasis Due To Entamoeba Histolytica
Abnormal pericardium morphology, Pleural empyema, Constrictive pericarditis, Elevated hepatic tra... ORPHA:67
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Graves disease, Increased circulating free T3, Goite... OMIM:275000
Combined Oxidative Phosphorylation Deficiency 31
Hyperalaninemia, Left ventricular noncompaction, Hypertrophic cardiomyopathy, Failure to thrive OMIM:617228
Scorpion Envenomation
Elevated circulating aspartate aminotransferase concentration, Glycosuria, Myocarditis, Hyperglyc... ORPHA:466677
Schimke Immuno-Osseous Dysplasia
Failure to thrive, Hyperlipidemia, Pancreatitis, Small for gestational age, Cerebral ischemia, Ab... ORPHA:1830
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:99413
Mosaic Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:99228
Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:99226
Turner Syndrome
Hyperinsulinemia, High urinary gonadotropin level, Myocardial infarction, Prolonged QT interval, ... ORPHA:881
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Aromatase Deficiency
Type II diabetes mellitus, Hyperlipidemia, Eunuchoid habitus, Tall stature, Hypergonadotropic hyp... ORPHA:91
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Torsade de pointes, Acute rhabdomyolysis, Prolonged QTc interval, Hypoglycemia, Rhabdomyolysis, E... OMIM:616878
Viss Syndrome
Pulmonary artery aneurysm, Ventricular septal defect, Contracture of the proximal interphalangeal... OMIM:619472
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Rabson-Mendenhall Syndrome
Postprandial hyperglycemia, Reduced subcutaneous adipose tissue, Increased serum testosterone lev... ORPHA:769
Leprechaunism
Postprandial hyperglycemia, Failure to thrive, Reduced subcutaneous adipose tissue, Hyperinsuline... ORPHA:508
Wilson Disease
Failure to thrive, Joint swelling, Hepatomegaly, Splenomegaly, Acute hepatic failure, Cirrhosis, ... ORPHA:905
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Fiber type grouping, Interosseus muscle atrophy, Mitochondrial hypertrophy, Decreased activity of... OMIM:500013
Peroxisomal Acyl-Coa Oxidase Deficiency
Diffuse hepatic steatosis, Hepatomegaly, Elevated hepatic transaminase OMIM:264470
Non-Involuting Congenital Hemangioma
Telangiectasia of the skin, Hepatic hemangioma, Congestive heart failure ORPHA:141179
3-Hydroxy-3-Methylglutaric Aciduria
Cardiac arrest, Lipid accumulation in hepatocytes, Hepatomegaly, Hyperammonemia, Dehydration, Hyp... ORPHA:20
Maternal Uniparental Disomy Of Chromosome 4
Decreased body weight, Abetalipoproteinemia, Elevated circulating creatine kinase concentration, ... ORPHA:96180
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Prolonged QT interva... ORPHA:66529
Mpi-Cdg
Decreased liver function, Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hypothy... ORPHA:79319
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Congenital Disorder Of Glycosylation, Type Ib
Failure to thrive, Hyperinsulinemic hypoglycemia, Hepatomegaly, Hepatic failure, Steatorrhea, Cir... OMIM:602579
Wolfram-Like Syndrome
Glucose intolerance, Hypothyroidism, Male hypogonadism, Primary gonadal insufficiency, Central di... ORPHA:411590
Congenital Disorder Of Glycosylation, Type Im
Failure to thrive, Hypoketotic hypoglycemia, Dilated cardiomyopathy, Increased circulating free f... OMIM:610768
Patent Ductus Venosus
Decreased liver function, Persistent patent ductus venosus, Hyperammonemia, Hypergalactosemia, Co... OMIM:601466
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Increased LDL cholesterol concentration, Macrovesicular hepatic steatosis, Cholestasis, Acute hep... ORPHA:209902
Hypothyroidism, Congenital, Nongoitrous, 6
Macroglossia, Impaired sensitivity to thyroid hormone, Increased body mass index, Congenital hypo... OMIM:614450
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Failure to thrive, Hepatomegaly, Hypoproteinemia, Splenomegaly, Elevated circulating creatine kin... OMIM:615895
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Inguinal hernia, Disproportionate tall stature, EMG: myopathic abnormalitie... ORPHA:1900
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Decreased activity of mitochondrial complex IV, Increased mitochondrial number OMIM:619063
Familial Glucocorticoid Deficiency
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... ORPHA:361
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Reduced circulating transferrin concentration, Secondary hyperaldosteronism,... ORPHA:90363
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Heart murmur, Congestive heart failure, Abnormal heart valve morphology ORPHA:3400
Relapsing Fever
Jaundice, Tachycardia, Hypotension, Increased circulating lactate dehydrogenase concentration, El... ORPHA:91547
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hypocalcemia, Pulmonary edema, Hepatic calcification, Sudden cardiac death, Hypoc... ORPHA:73224
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Failure to thrive, Macrovesicular hepatic steatosis, Hypoglycemia, Elev... OMIM:618329
Hsd10 Disease, Infantile Type
Abnormal enzyme/coenzyme activity, Cyanosis, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormali... ORPHA:391428
Mucopolysaccharidosis Type 1
Inguinal hernia, Splenomegaly, Abnormal tendon morphology, Abnormal aortic valve morphology, Hern... ORPHA:579
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Atrial septal defect, Tricuspid regurgitation, Flexion contracture, Mac... ORPHA:505248
Aarskog-Scott Syndrome
Camptodactyly of finger, Inguinal hernia, Umbilical hernia, Congestive heart failure ORPHA:915
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Hepatic steatosis OMIM:615595
Sepsis In Premature Infants
Decreased liver function, Hepatomegaly, Splenomegaly, Cyanosis, Tachycardia, Hypotension, Jaundic... ORPHA:90051
Aceruloplasminemia
Torticollis, Increased circulating ferritin concentration, Abnormal pancreas morphology, Acerulop... ORPHA:48818
Hereditary Pulmonary Alveolar Proteinosis
Hypoxemia, Tachycardia ORPHA:264675
Nestor-Guillermo Progeria Syndrome
Failure to thrive, Right atrial enlargement, Lipoatrophy, Flexion contracture, Mitral regurgitati... OMIM:614008
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... ORPHA:254892
Avian Influenza
Elevated circulating C-reactive protein concentration, Hypoxemia, Elevated circulating creatine k... ORPHA:454836
Bacterial Toxic-Shock Syndrome
Cellulitis, Peritonitis, Tachycardia, Myositis, Myocarditis, Hypotension, Shock, Hepatitis, Fasci... ORPHA:36234
Attrv30M Amyloidosis
Atrioventricular block, Arrhythmia, Cardiomyopathy, Cardiomegaly ORPHA:85447
Atransferrinemia
Atransferrinemia, Abnormality of the liver, Congestive heart failure OMIM:209300
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hepatomegaly, Hypoglycemia, Elevated hepatic transaminase, Decreased plasma carnitine, Hepatic st... OMIM:201450
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Failure to thrive, Microvesicular hepatic steatosis, Hypoglycemia, Increased hepatocellular lipid... OMIM:220111
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness