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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Peripartum Cardiomyopathy
Left atrial enlargement, Hypertension, Sinus tachycardia, Heart murmur, Left ventricular hypertro... ORPHA:563
Transient Neonatal Diabetes Mellitus
Maturity-onset diabetes of the young, Maternal diabetes, Hypoinsulinemia, Dehydration, Hypothyroi... ORPHA:99886
Plin1-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Loss of gluteal subcutaneous adipose tissue,... ORPHA:280356
Morbid Obesity And Spermatogenic Failure
Hypertriglyceridemia, Congestive heart failure, Decreased HDL cholesterol concentration, Hepatic ... OMIM:615703
Congenital Generalized Lipodystrophy
Hypertriglyceridemia, Congestive heart failure, Hepatic steatosis, Hyperinsulinemia, Hepatomegaly... ORPHA:528
Lipodystrophy, Familial Partial, Type 6
Abnormal circulating lipid concentration, Muscular dystrophy, Hypertension, Hyperlipidemia, Eleva... OMIM:615980
Pparg-Related Familial Partial Lipodystrophy
Lipoatrophy, Hypertriglyceridemia, Hypertension, Splenomegaly, Hepatic steatosis, Myopathy, Loss ... ORPHA:79083
Familial Partial Lipodystrophy, Dunnigan Type
Lipoatrophy, Hypertriglyceridemia, Congestive heart failure, Hepatomegaly, Pancreatitis, Abnormal... ORPHA:2348
Lipodystrophy, Familial Partial, Type 4
Lipoatrophy, Hypertriglyceridemia, Skeletal muscle hypertrophy, Hypertension, Lipodystrophy, Insu... OMIM:613877
Lipodystrophy, Familial Partial, Type 3
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hyperinsulinemia, Maternal diabete... OMIM:604367
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Congestive heart failure, Hepatomegaly, Bradycardia, Ventricular hypertrophy, Hyperalaninemia, El... OMIM:619048
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Hepatic steatosis, Generalized lipodystrophy, Hepatomegaly, Hypocalcemia, R... OMIM:612526
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertriglyceridemia, Cirrhosis, Hyperinsulinemia, Generalized lipodystrophy, Hepatomegaly, Hyper... ORPHA:363400
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Childhood-onset truncal obesity, Hyperinsulinemia, Increased adipose tissue... ORPHA:71529
His Bundle Tachycardia
Neoplasm of the heart, Cardiomyopathy, Junctional ectopic tachycardia, Arrhythmia ORPHA:3283
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Polyhydramnios, Fasting hypoglycemia, Hypoinsul... OMIM:240900
Cardiomyopathy, Dilated, 2G
Left atrial enlargement, Severely reduced left ventricular ejection fraction, Aortic regurgitatio... OMIM:619897
Carnitine Deficiency, Systemic Primary
Congestive heart failure, Hepatomegaly, Decreased circulating carnitine concentration, Reduced mu... OMIM:212140
Atrial Standstill
Bradycardia, Cardiomyopathy, Abnormal heart morphology, Mobitz I atrioventricular block, Ventricu... ORPHA:1344
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Lipoatrophy, Hypertriglyceridemia, Decreased HDL cholesterol concentration, Splenomegaly, Proxima... ORPHA:280365
Coronary Arterial Fistula
Aortic valve stenosis, Abnormal heart morphology, Cardiomegaly, Bicuspid aortic valve, Right vent... ORPHA:2041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Elevated circulating c... OMIM:253700
Multifocal Atrial Tachycardia
Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar... ORPHA:3282
Lipe-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Proximal muscle weakness in upper limbs, Hepatomegaly, Loss of gluteal subc... ORPHA:435660
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Abnormal cardiovascular system physiology, Elevated jugular venous pressure, Pulmon... ORPHA:422
Acquired Generalized Lipodystrophy
Hypertriglyceridemia, Abnormal circulating lipid concentration, Cirrhosis, Hyperinsulinemia, Pann... ORPHA:79086
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Third heart sound, Left ventricular hypertrophy, Right ventricular dilat... ORPHA:99106
Cardiomyopathy, Dilated, 1R
Congestive heart failure, Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Ventricular arrh... OMIM:613424
Endocardial Fibroelastosis
Congestive heart failure, Anterior hypopituitarism, Restrictive cardiomyopathy, Hypoglycemia, End... ORPHA:2022
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal QRS complex, Abnormality of blood circulation, Abnormal mitral valve morphology, Hypoxem... ORPHA:860
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Endocardial fibrosis, Atrial fibrillation, Supraventricular tachycardia, Cardiac arrest, Hypertro... OMIM:612158
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Congestive heart failure, Ankle flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Ele... OMIM:608099
Lipodystrophy, Familial Partial, Type 5
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Hypertension, Increased C-peptide lev... OMIM:615238
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Automatic atrial tachycardia, Atrial fibrillation, Supr... ORPHA:99105
Familial Partial Lipodystrophy, Köbberling Type
Lipoatrophy, Hyperinsulinemia, Hepatomegaly, Pancreatitis, Hypertension, Insulin resistance, Diab... ORPHA:79084
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Male hypogonadism, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:615381
Short Chain Acyl-Coa Dehydrogenase Deficiency
Ketotic hypoglycemia, Cardiomyopathy, Failure to thrive, Elevated circulating acylcarnitine conce... ORPHA:26792
Lipodystrophy, Familial Partial, Type 2
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypertension, Hepatic steatosis, H... OMIM:151660
Familial Isolated Dilated Cardiomyopathy
Lipoatrophy, Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Edema, ... ORPHA:154
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Large for gestational age, Neonatal hypoglycemia, Hypoglycemic seizures, Hypoketotic hypoglycemia... ORPHA:293964
Dietary Iron Overload Disease
Abnormal adrenal morphology, Congestive heart failure, Increased circulating ferritin concentrati... ORPHA:139507
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, Palpitations, Sudden cardiac d... OMIM:610476
Cidec-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Loss of gluteal subcutaneous adipose tissue, Pancreatitis, Sk... ORPHA:435651
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... ORPHA:171706
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Obesity, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction OMIM:608320
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Cardiomyopathy, Decreased activity of mitochondrial complex I, Fatt... OMIM:255100
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Endocardial fibrosis, Left bundle branch block, Ventricular arrhythmia,... OMIM:601493
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypertension, Impaired glucose tol... OMIM:610947
Hemochromatosis, Type 4
Increased circulating ferritin concentration, Hepatomegaly, Cirrhosis, Glucose intolerance, Cardi... OMIM:606069
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Maternal diabetes, Diffuse pa... ORPHA:276580
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Hypertension,... OMIM:540000
Hemochromatosis, Type 1
Congestive heart failure, Increased circulating ferritin concentration, Hepatomegaly, Elevated ci... OMIM:235200
Akt2-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hepatomegaly, Decreased serum leptin, Increased intraabdominal fat, Lipodys... ORPHA:79085
Cardiomyopathy, Dilated, 1M
Congestive heart failure, Reduced left ventricular ejection fraction, Impaired myocardial contrac... OMIM:607482
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Muscular dystrophy, Hyperinsulinemia, Prolonged QT interval, Hepatomegaly, ... OMIM:613327
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular septal hypertrophy, Palpitations, ST segment elevation, Ventricular hypertrophy, Card... ORPHA:263297
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Large for gestational age, Hypoglycemic seizures, Hyperinsulinemia, Hepatomegaly, Diffuse pancrea... ORPHA:276575
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Abnormal heart morphology, Tetralogy... OMIM:614954
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial fibrillation, Atrial flutter, Bradycardia, Permanent a... OMIM:614022
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Ventri... OMIM:604169
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Cardiomyopathy, Dilated, 1L
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... OMIM:606685
Cardiomyopathy, Dilated, 1I
Congestive heart failure, Reduced left ventricular ejection fraction, Elevated circulating creati... OMIM:604765
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Congestive heart failure, Calf muscle hypertrophy, Elbow flexion contracture, Elevated circulatin... ORPHA:206546
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Neonatal hypoglycemia, Prolonged QT interval, Elevated circulating hepatic... ORPHA:71212
Lipodystrophy, Partial, Acquired, Susceptibility To
Abnormal circulating lipid concentration, Loss of truncal subcutaneous adipose tissue, Loss of su... OMIM:608709
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Hypertriglyceridemia, Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabete... ORPHA:436182
Glycogen Storage Disease Vi
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Incr... OMIM:232700
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Delayed puberty, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration... ORPHA:369
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Ventricular septal hypertrophy, Left bundle branch ... OMIM:608758
Atrial Septal Defect, Ostium Secundum Type
Left-to-right shunt, Abnormal mitral valve morphology, Right ventricular dilatation, Supraventric... ORPHA:99103
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Cardiomyopathy, Dilated, 2A
Congestive heart failure, Cardiomyocyte hypertrophy, Myofiber disarray, Increased left ventricula... OMIM:611880
Lipodystrophy, Congenital Generalized, Type 1
Hypertriglyceridemia, Tall stature, Hyperinsulinemia, Hepatomegaly, Generalized muscular appearan... OMIM:608594
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrial septal defect, Hepatomegaly, Prolonged QT interval, Elevated circulating hepatic transamin... ORPHA:26793
Long-Olsen-Distelmaier Syndrome
Congestive heart failure, Hypoglycemia, Elevated circulating alanine aminotransferase concentrati... OMIM:620609
Seckel Syndrome 10
Hypertriglyceridemia, Congestive heart failure, Ventricular hypertrophy, Hypertension, Impaired g... OMIM:617253
Hyperinsulinism Due To Hnf1A Deficiency
Large for gestational age, Neonatal hypoglycemia, Hyperinsulinemia, Maturity-onset diabetes of th... ORPHA:324575
Combined Oxidative Phosphorylation Deficiency 16
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, Hy... OMIM:615395
Lipodystrophy, Congenital Generalized, Type 2
Hypertriglyceridemia, Tall stature, Elevated circulating hepatic transaminase concentration, Sple... OMIM:269700
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Cardiac rhabdomyoma, Histiocytoid cardi... ORPHA:45453
Hyperinsulinism Due To Ucp2 Deficiency
Hypoglycemic seizures, Hepatomegaly, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hype... ORPHA:276556
Cardiomyopathy, Dilated, 1Gg
Congestive heart failure, Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated ... OMIM:613642
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Combined Oxidative Phosphorylation Deficiency 52
Pancreatitis, Hyperamylasemia, Hyperalaninemia, Elevated circulating creatine kinase concentratio... OMIM:619386
Congenital Myopathy 5 With Cardiomyopathy
Minicore myopathy, Congestive heart failure, Weakness of facial musculature, Calf muscle hypertro... OMIM:611705
Cardiomyopathy, Familial Hypertrophic, 15
Congestive heart failure, Endocardial fibrosis, Hyperdynamic left ventricular ejection fraction, ... OMIM:613255
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Splenomegaly, Cardiomegaly, Elevated jugular venous pressure, Hepatocellular carc... ORPHA:465508
Acquired Partial Lipodystrophy
Lipoatrophy, Insulin resistance, Hepatic steatosis, Myopathy ORPHA:79087
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Complete Atrioventricular Septal Defect
Third heart sound, Left-to-right shunt, Cardiomegaly, Pulmonary venous hypertension, Abnormal car... ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemic seizures, Hyperinsul... OMIM:620211
Congenital Heart Block
Peripheral edema, Congestive heart failure, Hydrops fetalis, Bradycardia, Prolonged QTc interval,... ORPHA:60041
Cardiomyopathy, Dilated, 2I
Dilated cardiomyopathy, Supraventricular tachycardia, Severely reduced left ventricular ejection ... OMIM:620462
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Congestive heart failure, Abnormal Z disk morphology... OMIM:618654
Cardiomyopathy, Dilated, 1Ff
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613286
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Enlarged kidney, Hydrops fetalis, Hepatomegaly, Tor... ORPHA:79328
Combined Oxidative Phosphorylation Deficiency 8
Congestive heart failure, Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy... OMIM:614096
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Congestive heart failure, Ragged-red muscle fibers, Increased adipose tissue, Hypertension, Incre... ORPHA:1349
Glycogen Storage Disease Iii
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Ventric... OMIM:232400
Obesity Due To Congenital Leptin Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:66628
Cardiac Lipidosis, Familial
Congestive heart failure, Cardiomyopathy OMIM:212080
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Cardiac arrest, Diabetes mellitus, Paroxysmal atrial tachycardia, Atria... ORPHA:49827
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... ORPHA:189427
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Obesity Due To Leptin Receptor Gene Deficiency
Hypertriglyceridemia, Absence of secondary sex characteristics, Hyperinsulinemia, Hypoplasia of t... ORPHA:179494
Cardiomyopathy, Dilated, 1J
Congestive heart failure, Dilated cardiomyopathy, Abnormal left ventricular function, Sudden card... OMIM:605362
Acquired Aneurysmal Subarachnoid Hemorrhage
Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Cerebra... ORPHA:90065
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, He... ORPHA:98908
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Elevated circulating... ORPHA:264580
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Hepatomegaly, Elevated circulating h... OMIM:212138
Cardiomyopathy, Dilated, 1Ee
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume... OMIM:613252
Sandhoff Disease
Congestive heart failure, Hepatomegaly, Failure to thrive, Splenomegaly, Abnormal glycosphingolip... ORPHA:796
Acyl-Coa Dehydrogenase 9 Deficiency
Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen... ORPHA:99901
Left Ventricular Noncompaction 10
Congestive heart failure, Pulmonary arterial hypertension, Syncope, Increased left ventricular en... OMIM:615396
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Reduced left ventricular endsysto... OMIM:612124
Chronic Thromboembolic Pulmonary Hypertension
Congestive heart failure, Increased pulmonary vascular resistance, Elevated circulating C-reactiv... ORPHA:70591
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... OMIM:255120
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Hypertrophic cardiomyopathy, Bronchiecta... OMIM:619705
Cardiomyopathy, Dilated, 1Dd
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death, Left ventricular systolic... OMIM:613172
Klippel-Trénaunay Syndrome
Congestive heart failure, Tall stature, Gastrointestinal hemorrhage, Abnormal tricuspid valve mor... ORPHA:90308
Hemochromatosis, Type 2B
Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc... OMIM:613313
Atrial Septal Defect, Coronary Sinus Type
Presyncope, Cyanosis, Increased pulmonary vascular resistance, Supraventricular arrhythmia, Synco... ORPHA:99104
Mitochondrial Complex I Deficiency, Nuclear Type 11
Congestive heart failure, Wolff-Parkinson-White syndrome, Hepatomegaly, Macrovesicular hepatic st... OMIM:618234
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Hydrops fetalis, Elevated circulating hepatic transaminase concentratio... OMIM:609015
Cirrhotic Cardiomyopathy
Left atrial enlargement, Prolonged QT interval, Third heart sound, Ascites, Arrhythmia, Left vent... ORPHA:57777
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia, Hepatomegaly, Cardiomyopathy OMIM:609016
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Congestive heart failure, Fourth heart sound, Muscle fiber hyaline bodies, Type 1 muscle fiber pr... OMIM:255160
Left Ventricular Noncompaction 8
Congestive heart failure, Left ventricular systolic dysfunction, Arrhythmia, Dilated cardiomyopat... OMIM:615373
Infantile Sialic Acid Storage Disease
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Ascites, Failure to thrive, Splenomegaly... OMIM:269920
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Congestive heart failure, Dilated cardiomyopathy ORPHA:217622
Alstrom Syndrome
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Elevated circulating hepatic trans... OMIM:203800
Danon Disease
Congestive heart failure, Wolff-Parkinson-White syndrome, Lower limb amyotrophy, Syncope, Myocard... OMIM:300257
Obesity Due To Prohormone Convertase I Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Delayed puberty, Hypoglycemic seizures, Childhood-onset truncal obesity, Hyperinsulinemia, Decrea... ORPHA:71526
Hemochromatosis, Type 2A
Congestive heart failure, Cirrhosis, Hepatomegaly, Cardiomyopathy, Increased circulating iron con... OMIM:602390
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Decreased liver function, Congestive heart failure, Cirrhosis, Polyhydramnios, Hepatomegaly, Elev... ORPHA:367
Hypertriglyceridemia, Transient Infantile
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fail... OMIM:614480
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic steatosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoket... ORPHA:228305
Coproporphyria, Hereditary
Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia OMIM:121300
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Reduced systolic function OMIM:609909
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, Left ventricular hypertrophy, First degree at... OMIM:613694
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin... OMIM:617872
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
First degree atrioventricular block, Right ventricular dilatation, Ventricular tachycardia, Left ... OMIM:615616
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Muscular dystrophy, Atrial flutter, Heart block, Atrial fibrillation, S... ORPHA:300751
Mody
Large for gestational age, Neonatal hypoglycemia, Hepatocellular adenoma, Glucose intolerance, Ab... ORPHA:552
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v... OMIM:604400
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Proprotein Convertase 1/3 Deficiency
Hypoinsulinemia, Elevated circulating proinsulin concentration, Obesity, Decreased circulating co... OMIM:600955
Mitochondrial Trifunctional Protein Deficiency
Congestive heart failure, Hypoparathyroidism, Hypoketotic hypoglycemia, Hypocalcemia, Cardiomyopa... ORPHA:746
Congenitally Corrected Transposition Of The Great Arteries
Mesocardia, Bradycardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal hear... ORPHA:216694
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Arrhythmia, Dilated car... OMIM:616198
Chromosome 6Q24-Q25 Deletion Syndrome
Persistent fetal circulation, Patent ductus arteriosus, Dysplastic pulmonary valve, Right ventric... OMIM:612863
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ... OMIM:611528
Trimethylaminuria
Tachycardia, Hypertension, Splenomegaly OMIM:602079
Loeffler Endocarditis
Left atrial enlargement, Abnormal morphology of the chordae tendinae of the mitral valve, Myocard... ORPHA:75566
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hepatic s... OMIM:614921
Atrial Fibrillation, Familial, 15
Left atrial enlargement, Atrial flutter, Atrial fibrillation, Supraventricular tachycardia, Sudde... OMIM:615770
Glycogen Storage Disease Of Heart, Lethal Congenital
Enlarged kidney, Bradycardia, Cardiomyopathy, Ascites, Prolonged QRS complex, Cardiomegaly, T-wav... OMIM:261740
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98855
Body Mass Index Quantitative Trait Locus 19
Hypertriglyceridemia, Hyperinsulinemia, Hyperlipidemia, Obesity, Increased serum leptin, Insulin ... OMIM:617885
Ethanolaminosis
Cardiomegaly OMIM:227150
Acute Peripheral Arterial Occlusion
Absent ankle pulse, Supraventricular tachycardia, Abnormal capillary physiology, Limb muscle weak... ORPHA:90064
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Chylopericardium, Pleural effusion, Asci... ORPHA:2414
Mulibrey Nanism
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Recurrent lower respiratory tract infect... OMIM:253250
Polymyositis
Abnormal atrioventricular conduction, Congestive heart failure, Abnormal pulmonary interstitial m... ORPHA:732
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Reduced left ventricular ejection fraction, Decreased circulating carnitine concent... OMIM:201475
Bardet-Biedl Syndrome 19
Partial atrioventricular canal defect, Obesity, Hypogonadism, Patent ductus arteriosus, Atrial se... OMIM:615996
Classic Multiminicore Myopathy
Congestive heart failure, Muscular dystrophy, Weakness of facial musculature, Failure to thrive, ... ORPHA:324604
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Hyperlipidemia, Arthrogryposis multiplex congenita, Hypothyroidism, Precoci... ORPHA:254346
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Decreased liver function, Congestive heart failure, Hypertrophic cardiomyopathy, Failure to thriv... ORPHA:70472
Congenital Disorder Of Glycosylation, Type Il
Hydrops fetalis, Hepatomegaly, Ascites, Hypocholesterolemia, Pericardial effusion, Failure to thr... OMIM:608776
Mandibuloacral Dysplasia
Lipoatrophy, Hypertriglyceridemia, Hyperinsulinemia, Hypercholesterolemia, Loss of subcutaneous a... ORPHA:2457
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Ascites, Myofiber disarray, Cardiomegaly, Myopathy, Ventricular septal h... OMIM:115197
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypertriglyceridemia, Hypoglycemia, Myopathy ORPHA:366
Mitochondrial Complex I Deficiency, Nuclear Type 20
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular... OMIM:611126
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Congenital Fibrinogen Deficiency
Internal hemorrhage, Splenic rupture, Right ventricular hypertrophy, Left ventricular hypertrophy... ORPHA:335
Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98853
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation, Limb-girdle muscular dystrophy, Myopathy ORPHA:369847
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
3-Methylglutaconic Aciduria, Type V
Congestive heart failure, Prolonged QT interval, Noncompaction cardiomyopathy, Microvesicular hep... OMIM:610198
Cardiomyopathy, Familial Hypertrophic, 27
Congestive heart failure, Ventricular septal hypertrophy, Prolonged QT interval, Concentric hyper... OMIM:618052
Neutral Lipid Storage Disease With Myopathy
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chro... OMIM:610717
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Flexion contracture, Tachycardia, Atrial septal defect, Ventricular septal defect, ... OMIM:613870
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Hepatic steatosis, Elevated cir... OMIM:619013
Combined Oxidative Phosphorylation Deficiency 17
Failure to thrive, Congestive heart failure, Hypertrophic cardiomyopathy OMIM:615440
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Congestive heart failure, Abnormal aortic valve morphology, Hepatomegaly, Hypertrophic cardiomyop... ORPHA:1194
Dysbetalipoproteinemia
Hypertriglyceridemia, Xanthelasma, Decreased HDL cholesterol concentration, Hepatomegaly, Tendon ... ORPHA:412
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers, Congestive heart failure, Polyhydramnios, Increased serum pyruvate OMIM:616794
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
X-Linked Emery-Dreifuss Muscular Dystrophy
Hypertriglyceridemia, Limb-girdle muscular dystrophy, Myopathy, Proximal muscle weakness in lower... ORPHA:98863
Combined Oxidative Phosphorylation Deficiency 59
Congestive heart failure, Cholelithiasis, Ketotic hypoglycemia, Hyperalaninemia, Hypertrophic car... OMIM:620646
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic steatosis, Heart block, Hepatomegaly, Renal tubular epithelial necrosis, Hypoketotic hypo... ORPHA:228308
Cardiomyopathy, Familial Hypertrophic, 17
Palpitations, Angina pectoris, Atrial fibrillation, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:613873
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Timothy Syndrome
Prolonged QT interval, Bradycardia, Patent foramen ovale, Pulmonary arterial hypertension, Tetral... OMIM:601005
Atypical Werner Syndrome
Delayed puberty, Lipoatrophy, Hypertriglyceridemia, Calf muscle hypertrophy, Hypertension, Aortic... ORPHA:79474
Lmna-Related Cardiocutaneous Progeria Syndrome
Lipoatrophy, Hypertriglyceridemia, Congestive heart failure, Emphysema, Abnormal intrahepatic bil... ORPHA:363618
Multiple Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Congestive heart failure, Hepatomegaly, Elevated circulating hepatic tr... ORPHA:26791
Cardiomyopathy, Dilated, 1Kk
Congestive heart failure, Ventricular septal hypertrophy, Atrial fibrillation, Hypertrophic cardi... OMIM:615248
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Distal amyotrophy, Foot dorsiflexor weak... OMIM:618400
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Congestive heart failure, Polyhydramnios, Diabetes insipidus, Facial hypotonia, Failure to thrive... ORPHA:500533
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypoketotic hypoglycemia, ... ORPHA:159
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Congenital Muscular Dystrophy Due To Lmna Mutation
Congestive heart failure, Cachexia, Flexion contracture, Skeletal muscle atrophy, Arrhythmia, Myo... ORPHA:157973
Proteasome-Associated Autoinflammatory Syndrome 1
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Flexion contracture of toe, Elevat... OMIM:256040
Obesity And Hypopigmentation
Hepatic steatosis, Obesity, Hyperinsulinemia, Overgrowth OMIM:620195
Cholesteryl Ester Storage Disease
Hypertriglyceridemia, Steatorrhea, Decreased HDL cholesterol concentration, Acute hepatic failure... OMIM:278000
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P... OMIM:614021
Familial Atrial Myxoma
Congestive heart failure, Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites,... ORPHA:615
Congenital Disorder Of Glycosylation, Type Iip
Decreased liver function, Elevated circulating hepatic transaminase concentration, Decreased circ... OMIM:616829
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Elevated circulating hepatic transaminase concentration, Nonketotic hypoglycemia... OMIM:608836
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Low-output congestive heart failure, Hypertrophic cardiomyopathy, Failure to thrive, Cyanosis, My... ORPHA:91130
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Congestive heart failure, Elevated circulating tetradecanoylcarnitine concentration, Elevated cir... OMIM:619355
Maturity-Onset Diabetes Of The Young, Type 11
Maturity-onset diabetes of the young, Obesity, Overweight OMIM:613375
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Angina pectoris, Low-output congestive heart failure, Rimmed vacuoles... ORPHA:565612
Congenital Glucokinase-Related Hyperinsulinism
Hypoketotic hypoglycemia, Abnormal circulating C-peptide concentration, Type II diabetes mellitus... ORPHA:79299
Isolated Right Ventricular Hypoplasia
Abnormal atrioventricular conduction, Congestive heart failure, Muscular ventricular septal defec... ORPHA:439
Alg12-Cdg
Muscular ventricular septal defect, Polyhydramnios, Recurrent pharyngitis, Abnormal adipose tissu... ORPHA:79324
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Fasting hypoglycemia, Tachycardia, Hyperinsulinemic h... ORPHA:276608
Cardiomyopathy, Dilated, 1Ii
Ventricular tachycardia, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy,... OMIM:615184
Craniofaciofrontodigital Syndrome
Large for gestational age, Gastrointestinal hemorrhage, Congestive heart failure, Persistent feta... ORPHA:363705
Insulin-Resistance Syndrome Type B
Abnormal circulating lipid concentration, Hypotriglyceridemia, Increased body weight, Biliary cir... ORPHA:2298
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia, Hypo... OMIM:256450
Werner Syndrome
Lipoatrophy, Congestive heart failure, Thyroid carcinoma, Myocardial infarction, Hypertension, Ne... ORPHA:902
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age, Nesidioblastosis, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancrea... OMIM:601820
Congenital Disorder Of Glycosylation, Type Ia
Abnormal subcutaneous fat tissue distribution, Steatorrhea, Hepatomegaly, Elevated circulating he... OMIM:212065
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Rapidly Involuting Congenital Hemangioma
Lipoatrophy, Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin ORPHA:141184
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Congestive heart failure, Endocardial fibrosis, Reduced left ventricular... OMIM:608751
Maternal Uniparental Disomy Of Chromosome X
Congestive heart failure, Predominantly lower limb lymphedema, Camptodactyly of finger, Flexion c... ORPHA:261519
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Diarrhea 13
Elevated circulating hepatic transaminase concentration, Failure to thrive, Recurrent hypoglycemi... OMIM:620357
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hepatic steatosis, Cardiomyopathy, Hypertrophic cardiomyopathy OMIM:615119
Fixed Subaortic Stenosis
Pulmonic stenosis, Abnormal heart morphology, Diastolic heart murmur, Cardiomegaly, Left ventricu... ORPHA:3092
Naxos Disease
Congestive heart failure, Right ventricular cardiomyopathy, Paroxysmal ventricular tachycardia, P... OMIM:601214
Bardet-Biedl Syndrome 2
Obesity, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Diabetes mellitus, Dilated ca... OMIM:615981
Glycogen Storage Disease Xv
Paroxysmal ventricular tachycardia, ST segment elevation, Right bundle branch block, Scapular win... OMIM:613507
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hypoglycemia, Hepatic steatosis, Hepatic failure, Impaired gluconeogenesis OMIM:261650
Muscular Dystrophy, Congenital, Lmna-Related
Paroxysmal atrial fibrillation, Proximal upper limb amyotrophy, Muscular dystrophy, Upper limb mu... OMIM:613205
Histiocytoid Cardiomyopathy
Congestive heart failure, Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycard... ORPHA:137675
Cardiac Diverticulum
Premature ventricular contraction, Aortic valve stenosis, Abnormal heart morphology, Arrhythmia, ... ORPHA:1686
Cardiomyopathy, Dilated, 2F
Congestive heart failure, Ventricular fibrillation, Ventricular tachycardia, Severely reduced lef... OMIM:619747
Wild Type Attr Amyloidosis
Pulmonary edema, Abnormal pulmonary interstitial morphology, Congestive heart failure, Hepatomega... ORPHA:330001
Subaortic Stenosis-Short Stature Syndrome
Abnormal circulating lipid concentration, Inguinal hernia, Membranous subvalvular aortic stenosis... ORPHA:3191
Temple Syndrome
Hypertriglyceridemia, Maturity-onset diabetes of the young, Hypercholesterolemia, Precocious pube... OMIM:616222
Juvenile Neuronal Ceroid Lipofuscinosis
Tachycardia, Abnormal heart morphology, Abnormal circulating enzyme concentration or activity ORPHA:79264
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Congestive heart failure, Patent ductus arteriosus, Patent foramen ovale, Cardiomyopathy, Spinal ... OMIM:616866
Barth Syndrome
Congestive heart failure, Recurrent bronchitis, Hypertrophic cardiomyopathy, Tricuspid regurgitat... OMIM:302060
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight, Hypertension, Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitu... OMIM:615830
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Congestive heart failure, Abnormal heart valve morphology, Hypertension, Hypertrophic cardiomyopa... ORPHA:1345
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Hypertriglyceridemia, Cholestatic liver disease, Neonatal hypoglycemia, Hepatomegaly, Cirrhosis, ... OMIM:619418
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Wolff-Parkinson-White syndrome, Dist... OMIM:619566
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemic seizures, Hypoketotic hypoglycemia, Hypertrophic cardiomyopathy, Hepatic necrosis, F... OMIM:231530
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Foxp1 Syndrome
Pulmonary arterial hypertension, Hypothyroidism, Failure to thrive, Diabetes mellitus, Abnormal h... ORPHA:391372
Congenital Gerbode Defect
Congestive heart failure, Perimembranous ventricular septal defect, Abnormal tricuspid valve leaf... ORPHA:99095
Hereditary Butyrylcholinesterase Deficiency
Abnormality of the liver, Congestive heart failure, Myocardial infarction ORPHA:132
Sick Sinus Syndrome 2
Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P... OMIM:163800
Congenital Heart Defects, Multiple Types, 2
Myxomatous mitral valve degeneration, Congestive heart failure, Aortic regurgitation, Atrial fibr... OMIM:614980
Variegate Porphyria
Tachycardia OMIM:176200
Potocki-Lupski Syndrome
Patent foramen ovale, Hypocholesterolemia, Hypothyroidism, Failure to thrive, Atrial septal defec... OMIM:610883
Polyendocrine-Polyneuropathy Syndrome
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... ORPHA:453533
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Maternal diabetes, Reduced left ventr... ORPHA:45452
Triokinase And Fmn Cyclase Deficiency Syndrome
Hepatomegaly, Pancreatitis, Elevated circulating alanine aminotransferase concentration, Reduced ... OMIM:618805
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemic seizures, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic ... OMIM:610021
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Renovascular hypertension, Type II diabetes mellitus, Bicuspid aortic valve... ORPHA:401923
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Congestive heart failure, Rimmed vacuoles, Cardiomyopathy, Elevated circulating creatine kinase c... ORPHA:52430
Dk1-Cdg
Congestive heart failure, Elevated circulating hepatic transaminase concentration, Failure to thr... ORPHA:91131
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Fasting hyperinsulinemia, Hyperinsulinemic hypoglycemia, Elevated circulat... OMIM:609968
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul... OMIM:609040
Cardiomyopathy, Dilated, 1S
Congestive heart failure, Perimembranous ventricular septal defect, Reduced left ventricular ejec... OMIM:613426
Galactokinase Deficiency
Hyperinsulinemia, Hepatomegaly, Increased level of galactitol in plasma, Hypergalactosemia, Hyper... ORPHA:79237
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Pulmonary embolism, Jaundice, Increased circulating chylomicron concentrati... ORPHA:444490
Solitary Fibrous Tumor
Hypophosphatemic rickets, Abnormal peritoneum morphology, Hypoinsulinemia, Neoplasm of the lung, ... ORPHA:2126
Carnitine Palmitoyl Transferase 1A Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Transient hyperlipidemia, ... ORPHA:156
Double Outlet Right Ventricle
Tachycardia, Truncus arteriosus, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallo... ORPHA:3426
Combined Oxidative Phosphorylation Deficiency 10
Bradycardia, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Hyperalaninemia, Pericardial... OMIM:614702
Hypertriglyceridemia 1
Hypopituitarism, Glucose intolerance, Hypertriglyceridemia, Increased VLDL cholesterol concentration OMIM:145750
Absence Of The Pulmonary Artery
Congestive heart failure, Abnormal hemidiaphragm morphology, Atrial flutter, Reduced left ventric... ORPHA:980
Scimitar Syndrome
Bronchogenic cyst, Pulmonary sequestration, Mitral atresia, Left-to-right shunt, Hypoplasia of th... ORPHA:185
Acquired Methemoglobinemia
Tachycardia, Hypoxemia, Arrhythmia, Syncope, Palpitations, Cyanosis ORPHA:464453
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Wolff-Parkinson-White syndrome, Severely reduced left ventricular eject... ORPHA:444013
Mandibuloacral Dysplasia With Type B Lipodystrophy
Decreased adipose tissue around neck, Hyperinsulinemia, Generalized lipodystrophy, Loss of trunca... OMIM:608612
Gm1 Gangliosidosis
Congestive heart failure, Hydrops fetalis, Patent ductus arteriosus, Inguinal hernia, Cardiomyopa... ORPHA:354
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Hyperinsulinism Due To Insr Deficiency
Hyperinsulinemic hypoglycemia, Abnormal circulating C-peptide concentration, Hypoglycemia, Recurr... ORPHA:263458
Muscular Dystrophy, Duchenne Type
Congestive heart failure, Muscular dystrophy, Calf muscle pseudohypertrophy, Calf muscle hypertro... OMIM:310200
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Scarring, Pulmonary artery aneurysm, Pulmonary insufficiency, Em... OMIM:614437
Wolfram-Like Syndrome
Delayed puberty, Central diabetes insipidus, Male hypogonadism, Glucose intolerance, Hypothyroidi... ORPHA:411590
Insulin Autoimmune Syndrome
Hyperinsulinemic hypoglycemia, Fasting hypoglycemia, Nonketotic hypoglycemia, Weight loss, Insuli... ORPHA:411593
Snakebite Envenomation
Hypotension, Cerebral ischemia, Muscle fiber necrosis, Rhabdomyolysis, Cardiogenic shock, Epistax... ORPHA:449285
Progeria-Short Stature-Pigmented Nevi Syndrome
Delayed puberty, Neoplasm of the pancreas, Elevated circulating hepatic transaminase concentratio... ORPHA:2959
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Mitochondrial respiratory chain defects, Arrhythmia, Ventricular preexcit... ORPHA:104
Cortisone Reductase Deficiency 2
Insulin resistance, Obesity, Premature pubarche, Low tetrahydrocortisol (THF) plus 5-alpha-THF/te... OMIM:614662
Microcephaly, Short Stature, And Impaired Glucose Metabolism 1
Delayed puberty, Delayed thelarche, Dorsocervical fat pad, Hyperinsulinemic hypoglycemia, Diabete... OMIM:616033
Cednik Syndrome
Congestive heart failure, Hypogonadism ORPHA:66631
Andersen-Tawil Syndrome
Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,... ORPHA:37553
Malignant Hyperthermia Of Anesthesia
Acute rhabdomyolysis, Abnormality of masseter muscle, Cardiomyocyte mitochondrial proliferation, ... ORPHA:423
16P12.1P12.3 Triplication Syndrome
Abnormal tricuspid valve morphology, Abnormal intrahepatic bile duct morphology, Abnormal heart m... ORPHA:485405
Attrv122I Amyloidosis
Abnormal atrioventricular conduction, Congestive heart failure, Increased circulating NT-proBNP c... ORPHA:85451
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypotriglyceridemia, Hypocholesterolemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Chronic Atrial And Intestinal Dysrhythmia
Left atrial enlargement, Sick sinus syndrome, Atrial flutter, Bradycardia, Atrial fibrillation, P... OMIM:616201
Interatrial Communication
Atrial septal defect, Congestive heart failure, Atrial flutter, Sinus venosus atrial septal defec... ORPHA:1478
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hyp... ORPHA:263455
Cardiomyopathy, Dilated, 2B
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular e... OMIM:614672
Tenorio Syndrome
Hypoinsulinemia, Recurrent pneumonia, Raynaud phenomenon, Syncope, Hypoglycemia, Macroglossia OMIM:616260
Familial Dyskinesia And Facial Myokymia
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia ORPHA:324588
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Hypertrophic ... ORPHA:368
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Hepatomegaly, Cholestasis, Biliary cirrhosis, Hepatic fibrosis,... OMIM:620454
Adrenocortical Carcinoma
Increased circulating androstenedione concentration, Elevated serum 11-deoxycortisol, Hypokalemia... ORPHA:1501
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Fasting hypoglycemia, Elevated circulating alanine aminotransferase concentration, ... OMIM:261680
Congenital Disorder Of Glycosylation, Type Iie
Decreased liver function, Congestive heart failure, Perimembranous ventricular septal defect, Hep... OMIM:608779
Naxos Disease
Congestive heart failure, Paroxysmal ventricular tachycardia, Cardiomyopathy, Arrhythmia, Sudden ... ORPHA:34217
Infant Acute Respiratory Distress Syndrome
Bradycardia, Cardiac arrest, Hypotension, Hypoxemia, Tachycardia, Cyanosis ORPHA:70587
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Pearson Syndrome
Steatorrhea, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Abnormal he... ORPHA:699
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Syncope, Ventricular tachycardia, Polymorphic ventricular tachycardia, Bradycardia OMIM:611938
Pyruvate Dehydrogenase E3 Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased circulating carn... ORPHA:2394
Mandibuloacral Dysplasia With Type A Lipodystrophy
Calcinosis, Hyperinsulinemia, Hypercholesterolemia, Hepatomegaly, Loss of subcutaneous adipose ti... OMIM:248370
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Atrial fibrillation, Supraventricular tachycardia, Ventricular fibrillation, Syncop... ORPHA:3286
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Hypocholesterolemia, Hepatomegaly, Splenomegaly OMIM:610539
Desminopathy
Congestive heart failure, Distal lower limb muscle weakness, Concentric hypertrophic cardiomyopat... ORPHA:98909
Immune-Mediated Necrotizing Myopathy
Myocarditis, Congestive heart failure, Abnormal pulmonary interstitial morphology, Myositis, Scap... ORPHA:206569
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Primary hypothyroidism, Failure to thriv... ORPHA:300536
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hyperglycemia, Lower limb muscle weakness OMIM:619737
Fabry Disease
Delayed puberty, Abnormal circulating lipid concentration, Hypertension, Hyperlipidemia, Left ven... ORPHA:324
Citrullinemia Type Ii
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Decreased body mass index, Hepatom... ORPHA:247585
Bdv Syndrome
Delayed puberty, Hyperinsulinemia, Decreased thyroid-stimulating hormone level, Reduced TSH respo... OMIM:619326
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Tall stature, Pancreatitis, Inguinal hernia, Hyperhomocystinemia, Failure to thrive, Disproportio... OMIM:236200
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Steatorrhea, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased cir... OMIM:605911
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased blood pressure, ... OMIM:619487
3-Methylglutaconic Aciduria, Type Viib
Congestive heart failure, Neonatal hypoglycemia, Polyhydramnios, Dehydration, Recurrent pneumonia... OMIM:616271
Obesity Due To Sim1 Deficiency
Hyperinsulinemia, Hypotension, Obesity, Glucose intolerance, Postural hypotension with compensato... ORPHA:369873
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Skeletal muscle... OMIM:300280
Car T Cell Therapy-Associated Cytokine Release Syndrome
Heart block, Elevated circulating hepatic transaminase concentration, Reduced left ventricular ej... ORPHA:542323
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating S-adenosyl-L-homocysteine concentration, Portal fibrosis, Hyperbilirubinemia... OMIM:614300
Abetalipoproteinemia
Congestive heart failure, Steatorrhea, Hepatomegaly, Decreased HDL cholesterol concentration, Dis... ORPHA:14
Cardiac Valvular Dysplasia, X-Linked
Congestive heart failure, Aortic regurgitation, Short chordae tendineae of the tricuspid valve, T... OMIM:314400
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Dominant Beta-Thalassemia
Delayed puberty, Cirrhosis, Abnormality of iron homeostasis, Hypoparathyroidism, High-output cong... ORPHA:231226
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Congestive heart failure, Atrial flutter, Abnormal atrioventricular valve morphology, Tricuspid r... ORPHA:324410
Combined Oxidative Phosphorylation Deficiency 9
Hepatomegaly, Patent foramen ovale, Hyperalaninemia, Hypertrophic cardiomyopathy, Elevated circul... OMIM:614582
Perlman Syndrome
Tall stature, Hyperinsulinemia, Hepatomegaly, Abnormal pancreas morphology, Inguinal hernia, Femo... ORPHA:2849
Monosomy 13Q34
Pulmonic stenosis, Common atrium, Obesity, Epistaxis, Hematochezia, Hypercalcemia, Insulin resist... ORPHA:96168
Pediatric-Onset Graves Disease
Increased circulating T4 concentration, Increased circulating free T3, Congestive heart failure, ... ORPHA:525731
Mucopolysaccharidosis-Plus Syndrome
Atrial septal defect, Congestive heart failure, Enlarged kidney, Hepatomegaly, Macrovesicular hep... OMIM:617303
Fabry Disease
Delayed puberty, Congestive heart failure, Ventricular septal hypertrophy, Angina pectoris, Hyper... OMIM:301500
Combined Oxidative Phosphorylation Deficiency 22
Failure to thrive, Hyperalaninemia, Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Myotonic Dystrophy 2
Right bundle branch block, Oligozoospermia, Insulin insensitivity, Premature ventricular contract... OMIM:602668
Gm1-Gangliosidosis, Type I
Congestive heart failure, Hydrops fetalis, Hepatomegaly, Inguinal hernia, Abnormal heart valve mo... OMIM:230500
Insulinoma
Hyperinsulinemia, Palpitations, Neoplasm of the adrenal gland, Increased body weight, Primary hyp... ORPHA:97279
Squalene Synthase Deficiency
Increased circulating farnesol concentration, Elbow flexion contracture, Elevated circulating met... OMIM:618156
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Hypercholesterolemia, Increased LDL cholesterol concentration, Hypertension... OMIM:615812
Dilated Cardiomyopathy With Ataxia
Neonatal hypoglycemia, Muscular ventricular septal defect, Prolonged QT interval, Elevated circul... ORPHA:66634
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Joint contracture of the 5th finger, Bradycardia, Impaired glucose tolerance, Failure to thrive, ... OMIM:614407
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Graft Versus Host Disease
Fasciitis, Dupuytren contracture, Jaundice, Elevated circulating hepatic transaminase concentrati... ORPHA:39812
Homozygous 11P15-P14 Deletion Syndrome
Failure to thrive, Hypoglycemia, Hyperinsulinemia OMIM:606528
3-Methylglutaconic Aciduria Type 7
Pneumothorax, Neonatal hypoglycemia, Elevated circulating hepatic transaminase concentration, Car... ORPHA:445038
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Aortic Arch Interruption
Blood pressure substantially higher in arms than legs, Aortopulmonary window, Hypertension, Abnor... ORPHA:2299
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Congestive heart failure, Camptodactyly OMIM:619751
Immunodeficiency 87 And Autoimmunity
Hypertriglyceridemia, Hypertension, Cholestasis, Ascites, Anasarca, Hepatic steatosis, Oligohydra... OMIM:619573
Citrullinemia, Type Ii, Adult-Onset
Hypertriglyceridemia, Elevated plasma citrulline, Pancreatitis, Portal inflammation, Hepatocellul... OMIM:603471
Combined Oxidative Phosphorylation Deficiency 42
Decreased liver function, Cardiomyopathy, Elevated circulating creatine kinase concentration, Dec... OMIM:618839
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Hypoglycemia, Hype... OMIM:618120
Neutral Lipid Storage Disease With Ichthyosis
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Card... ORPHA:98907
Fanconi-Bickel Syndrome
Hypertriglyceridemia, Hepatomegaly, Fasting hypoglycemia, Increased hepatic glycogen content, Hep... ORPHA:2088
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Premature ventricular contraction, Ventricular fibrillation, Syncope, Ventricular... OMIM:614916
Propionic Acidemia
Hepatomegaly, Cardiomyopathy, Hyperammonemia, Arrhythmia, Hypoglycemia ORPHA:35
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Delayed puberty, Steatorrhea, Hepatomegaly, Pancreatic fibrosis, Skeletal muscle fibrosis, Hypoth... OMIM:616263
Graves Disease
Increased circulating free T3, Congestive heart failure, Decreased thyroid-stimulating hormone le... OMIM:275000
Donohue Syndrome
Hyperinsulinemia, Severe failure to thrive, Fasting hypoglycemia, Cholestasis, Precocious puberty... OMIM:246200
Friedreich Ataxia
Congestive heart failure, Diabetes mellitus, Abnormal EKG, Hypertrophic cardiomyopathy OMIM:229300
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Porphyria Cutanea Tarda
Hepatic lobular inflammation, Scarring, Increased circulating ferritin concentration, Elevated ci... ORPHA:101330
Hereditary Coproporphyria
Proximal muscle weakness in upper limbs, Hepatocellular carcinoma, Tachycardia, Atypical scarring... ORPHA:79273
Combined Oxidative Phosphorylation Deficiency 40
Decreased liver function, Elevated circulating creatine kinase concentration, Hypertrophic cardio... OMIM:618835
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hepatomegaly, Methylmalonic acidemia, Elevated circulating hepatic transaminase concentration, Pa... ORPHA:17
Acth-Independent Macronodular Adrenal Hyperplasia 2
Decreased circulating ACTH concentration, Macronodular adrenal hyperplasia, Increased body weight... OMIM:615954
Babesiosis
Congestive heart failure, Hepatomegaly, Jaundice, Recurrent pharyngitis, Splenomegaly, Myocardial... ORPHA:108
American Trypanosomiasis
Myocarditis, Congestive heart failure, Hepatomegaly, Cardiomyopathy, Splenomegaly, Arrhythmia, Ed... ORPHA:3386
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Congestive heart failure, Myositis, Vasculitis, Hypertension, Transient ischemic att... ORPHA:183
Morgagni-Stewart-Morel Syndrome
Abnormality of the endocrine system, Hyperuricemia, Hypertension, Hypothyroidism, Obesity, Abnorm... ORPHA:77296
Tropical Endomyocardial Fibrosis
Left atrial enlargement, P pulmonale, Abnormal ST segment, Splenomegaly, Prolonged QRS complex, C... ORPHA:75565
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Decreased liver function, Atrial septal defect, Elevated circulating hepatic transaminase concent... OMIM:615160
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Hypergonadotropic hypogonadism, Obesity, Type II diabetes mellitus, Keloids ORPHA:3085
Refsum Disease, Classic
Congestive heart failure, Cardiomyopathy, Limb muscle weakness, Elevated circulating phytanic aci... OMIM:266500
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Ascites, Prolonged neonatal jaundice, Acute hepatic failure, Recurrent hypoglycemia,... OMIM:256810
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Neonatal hypoglycemia, Diffuse pancreatic islet hyperplasia, Abnormal ... ORPHA:79644
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Generalized lipodystrophy, Hepatomegaly, Elevated circulating hepatic trans... OMIM:619127
Combined Oxidative Phosphorylation Deficiency 41
Elevated circulating creatine kinase concentration, Decreased circulating cortisol level, Nonimmu... OMIM:618838
Long Qt Syndrome 3
Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop... OMIM:603830
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Periportal fibro... OMIM:251880
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Precocious puberty, Obesity, Maturity-onset diabetes of the young, Hypercholesterolemia ORPHA:254531
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Muscular dystrophy, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Abnorm... ORPHA:369840
Chromosome 18Q Deletion Syndrome
Congestive heart failure, Decreased response to growth hormone stimulation test, Patent ductus ar... OMIM:601808
Smith-Magenis Syndrome
Hypertriglyceridemia, Increased body weight, Abnormal heart morphology, Abnormality of the thyroi... OMIM:182290
Cardiomyopathy, Dilated, 2J
Congestive heart failure, Dilated cardiomyopathy, Secundum atrial septal defect, Severely reduced... OMIM:620635
Porphyria Variegata
Scarring, Proximal muscle weakness in upper limbs, Elevated circulating hepatic transaminase conc... ORPHA:79473
Hydrops Fetalis, Nonimmune
Congestive heart failure, Hydrops fetalis, Nonimmune hydrops fetalis OMIM:236750
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Atrial fibrillation, Ventricular hypertrophy, Hypertrophic cardio... OMIM:613690
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hypertriglyceridemia, Hepatocellular adenoma, Hepatomegaly, Elevated circulating hepatic transami... ORPHA:79240
Mitochondrial Complex I Deficiency, Nuclear Type 30
Congestive heart failure OMIM:301021
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema... ORPHA:171
Erdheim-Chester Disease
Xanthelasma, Abnormal pulmonary interstitial morphology, Abnormal aortic valve morphology, Conges... ORPHA:35687
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Obesity, Recurrent pneumonia, Hypogonadism, Recurrent upper respiratory t... OMIM:614962
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Hypoproteinemia... OMIM:619991
Beta-Thalassemia Major
Delayed puberty, Cirrhosis, Hepatomegaly, Hypoparathyroidism, High-output congestive heart failur... ORPHA:231214
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Polyhydramnios, Hydrops fetalis, Hepatomegaly, Pericarditis, Splenomega... ORPHA:163596
Hyperinsulinemic Hypoglycemia, Familial, 6
Asymptomatic hyperammonemia, Hypoglycemic seizures, Failure to thrive, Hyperinsulinemic hypoglyce... OMIM:606762
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Left ventricular systolic dysfunction, Ventricular bigeminy, Patent foramen ovale, Tricuspid regu... OMIM:620519
3-Hydroxy-3-Methylglutaric Aciduria
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Hyperuricemia, C... ORPHA:20
Eisenmenger Syndrome
Aortopulmonary window, Left-to-right shunt, Hypoxemia, Abnormal heart morphology, Heart murmur, R... ORPHA:97214
Macrocephaly-Intellectual Disability-Autism Syndrome
Thyroid carcinoma, Multiple lipomas, Hepatic steatosis, Hurthle cell thyroid adenoma ORPHA:210548
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Pericardial effusion, Sinus bradyc... OMIM:115200
Mucolipidosis Type Iii Alpha/Beta
Congestive heart failure, Aortic regurgitation, Diastasis recti, Flexion contracture, Right ventr... ORPHA:423461
Peroxisomal Acyl-Coa Oxidase Deficiency
Very long chain fatty acid accumulation, Hepatomegaly, Elevated circulating hepatic transaminase ... OMIM:264470
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Hypocholesterolemia, Polyhydramnios, Hypertrophic cardiomyopathy, Hepatomegaly OMIM:618810
Mucopolysaccharidosis, Type Ii
Congestive heart failure, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Recurre... OMIM:309900
Sudden Cardiac Failure, Infantile
Myocarditis, Congestive heart failure, Bradycardia, Hypertrophic cardiomyopathy, Myocardial fibro... OMIM:617222
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Acute rhabdomyolysis, Elevated circulating hepatic transaminase concentration, Prolonged QTc inte... OMIM:616878
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Delayed puberty, Xanthelasma, Hypertriglyceridemia, Enlarged kidney, Hepatocellular adenoma, Hype... ORPHA:79259
Kallmann Syndrome-Heart Disease Syndrome
Delayed puberty, Pulmonary insufficiency, Congestive heart failure, Aortic regurgitation, Pulmona... ORPHA:2326
Lipodystrophy, Familial Partial, Type 7
Hypertriglyceridemia, Hypertension, Impaired glucose tolerance, Recurrent pancreatitis, Type I di... OMIM:606721
High Altitude Pulmonary Edema
Tachycardia, Hypoxemia, Cyanosis ORPHA:330012
Tetrasomy 5P
Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculature, Pulmonary arteria... ORPHA:3309
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Abnorm... ORPHA:85446
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hepatomegaly, Ventricular septal defect, Impaired glucose tolerance, Cholestasis, Obesity, Spleno... OMIM:615630
Viss Syndrome
Pulmonary artery aneurysm, Coronary sinus enlargement, Mitral valve prolapse, Umbilical hernia, R... OMIM:619472
Abdominal Obesity-Metabolic Syndrome 4
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Increased LDL cholesterol concentr... OMIM:618620
Congenital Analbuminemia
Recurrent lower respiratory tract infections, Hypoproteinemia, Hyperlipidemia, Oligohydramnios, O... ORPHA:86816
Leigh Syndrome
Congestive heart failure, Multiple joint contractures, Hyperalaninemia, Hypertrophic cardiomyopat... ORPHA:506
Glycogen Storage Disease Ixa1
Hypertriglyceridemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hype... OMIM:306000
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Lipoatrophy, Decreased serum leptin, Hypertension, Sinus tachycardia, Ri... OMIM:614008
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Reduced left ventricular ejection fraction, Premature ventricular contr... OMIM:620247
Patent Ductus Venosus
Decreased liver function, Persistent patent ductus venosus, Hypergalactosemia, Hyperammonemia, Co... OMIM:601466
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Pancreatitis, Elevated circulating hepatic transaminase concentration, ... ORPHA:69663
Schimke Immuno-Osseous Dysplasia
Congestive heart failure, Abnormality of thyroid physiology, Ischemic stroke, Pancreatitis, Hyper... ORPHA:1830
Combined Oxidative Phosphorylation Deficiency 37
Decreased liver function, Elevated circulating hepatic transaminase concentration, Macrovesicular... OMIM:618329
Aorto-Ventricular Tunnel
Abnormal heart valve morphology, Ventricular hypertrophy, Congestive heart failure, Heart murmur ORPHA:3400
Cardiomyopathy, Familial Hypertrophic, 26
Left atrial enlargement, Congestive heart failure, Left anterior fascicular block, Left bundle br... OMIM:617047
Arterial Calcification, Generalized, Of Infancy, 2
Congestive heart failure, Hypophosphatemic rickets, Reduced left ventricular ejection fraction, H... OMIM:614473
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Congestive heart failure, Cirrhosis, Polyhydramnios, Elevated circulating hepatic transaminase co... OMIM:617156
Congenital Disorder Of Glycosylation, Type Iir
Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce... OMIM:301045
Non-Functioning Paraganglioma
Congestive heart failure, Hypertension associated with pheochromocytoma, Sinus tachycardia, Parag... ORPHA:94080
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Increased circulating T4 concentr... OMIM:274300
Scorpion Envenomation
Prominent U wave, Hypertension, Premature ventricular contraction, Edema, T-wave inversion, Myoca... ORPHA:466677
Cardiogenic Shock
Congestive heart failure, Abnormal left ventricular function, Hepatomegaly, Elevated jugular veno... ORPHA:97292
Amoebiasis Due To Entamoeba Histolytica
Lung abscess, Congestive heart failure, Liver abscess, Elevated circulating hepatic transaminase ... ORPHA:67
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Ventricular fibrillation, Tachycardia OMIM:603829
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Congestive heart failure, Inguinal hernia, Atrophic scars, Elbow flexion contracture, EMG: myopat... ORPHA:1900
Tako-Tsubo Cardiomyopathy
Prolonged QT interval, Bradycardia, Hypertension, T-wave inversion, Low-output congestive heart f... ORPHA:66529
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Decreased activity of mitochondrial complex I, Hypertro... OMIM:620135
Aceruloplasminemia
Congestive heart failure, Increased circulating ferritin concentration, Decreased circulating cer... ORPHA:48818
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Arrhythmia ORPHA:85447
Rabson-Mendenhall Syndrome
Increased circulating androgen concentration, Increased serum testosterone level, Fasting hypogly... ORPHA:769
Secondary Intestinal Lymphangiectasia
Anasarca, Cirrhosis, Lymphedema, Pleural effusion, Reduced circulating transferrin concentration,... ORPHA:90363
Leprechaunism
Enlarged kidney, Hyperinsulinemia, Hepatomegaly, Fasting hypoglycemia, Hypokalemia, Decreased bod... ORPHA:508
Mucopolysaccharidosis Type 1
Congestive heart failure, Abnormal aortic valve morphology, Inguinal hernia, Abnormal tendon morp... ORPHA:579
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pulmonary arterial hyperte... OMIM:619064
Aromatase Deficiency
Tall stature, Hyperlipidemia, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Eunuch... ORPHA:91
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Decreased liver function, Hepatic steatosis, Jaundice, Intrahepatic cholestasis, Hepatic fibrosis... OMIM:617093
Avian Influenza
Pneumothorax, Congestive heart failure, Elevated circulating hepatic transaminase concentration, ... ORPHA:454836
Fructose-1,6-Bisphosphatase Deficiency
Neonatal hypoglycemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Fas... ORPHA:348
Relapsing Fever
Jaundice, Elevated circulating hepatic transaminase concentration, Hypotension, Increased circula... ORPHA:91547
Maternal Uniparental Disomy Of Chromosome 4
Diabetes insipidus, Calf muscle pseudohypertrophy, Decreased body weight, Elevated circulating cr... ORPHA:96180
Mpi-Cdg
Decreased liver function, Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hypothy... ORPHA:79319
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Torsade de pointes, Left ventricular noncompaction cardiomyopathy, Ventricular fibrillation, Poly... OMIM:115000
Wilson Disease
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Jaundice, Acute... ORPHA:905
Asbestos Intoxication
Abnormal pulmonary interstitial morphology, Pleural thickening, Atelectasis, Hepatojugular reflux... ORPHA:2302
Hereditary Pulmonary Alveolar Proteinosis
Tachycardia, Hypoxemia ORPHA:264675
Non-Involuting Congenital Hemangioma
Congestive heart failure, Hepatic hemangioma, Telangiectasia of the skin ORPHA:141179
Glycogen Storage Disease Ixc
Hypertriglyceridemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentr... OMIM:613027
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Congestive heart failure, Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Pul... ORPHA:505248
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Decreased activity of mito... OMIM:617713
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Hypertriglyceridemia, Abnormal circulating lipid concentration, Gastrointestinal hemorrhage, Decr... ORPHA:247598
Hypothyroidism, Congenital, Nongoitrous, 6
Increased T3/T4 ratio, Increased body weight, Congenital hypothyroidism, Omphalocele, Macroglossi... OMIM:614450
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hypertriglyceridemia, Macrovesicular hepatic steatosis, Acute hepatic steatosis, Increased LDL ch... ORPHA:209902
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... OMIM:615895
Bacterial Toxic-Shock Syndrome
Myocarditis, Fasciitis, Capillary leak, Myositis, Hypotension, Peritonitis, Tachycardia, Cellulit... ORPHA:36234
Aarskog-Scott Syndrome
Camptodactyly of finger, Congestive heart failure, Inguinal hernia, Umbilical hernia ORPHA:915
Congenital Disorder Of Glycosylation, Type Ib
Steatorrhea, Hepatomegaly, Cirrhosis, Failure to thrive, Hypoalbuminemia, Edema, Hyperinsulinemic... OMIM:602579