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Gene: Nppa MGI:97367

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
natriuretic peptide type A
Synonyms:
Pnd,  Anf,  atrial natriuretic peptide,  natriuretic peptide precursor A,  ANP

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 Nppa 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 predicted to be associated to Nppa by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Cardiomyopathy, Dilated, 1R
Restrictive cardiomyopathy, Dilated cardiomyopathy, Congestive heart failure, Left ventricular no... OMIM:613424
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Left ventricular noncompa... OMIM:601493
Trimethylaminuria
Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardia, Hypertension OMIM:602079
Cardiomyopathy, Familial Hypertrophic, 15
Apical hypertrophic cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic ... OMIM:613255
Atrial Fibrillation, Familial, 6
Reduced left ventricular ejection fraction, Left atrial enlargement, Left ventricular hypertrophy... OMIM:612201
Cardiomyopathy, Dilated, 1U
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:613694
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Syncope, Pulmon... OMIM:615396
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy, Sudden cardiac... OMIM:115210
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrioventricular block, Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 25
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome OMIM:607487
Muscle Filaminopathy
Proximal muscle weakness in lower limbs, Muscle fiber splitting, Cardiomyopathy, Extremely elevat... ORPHA:171445
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... OMIM:613251
His Bundle Tachycardia
Junctional ectopic tachycardia, Arrhythmia, Neoplasm of the heart, Cardiomyopathy ORPHA:3283
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiom... OMIM:611556
Left Ventricular Noncompaction 1
Hypoplastic left heart, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Endocardial fibrosis, Congestive heart failure, Hypertrophic cardiomy... OMIM:608751
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Cardiomyopathy, Dilated, 1V
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Lef... OMIM:613697
Cardiomyopathy, Familial Hypertrophic, 16
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Palpitations, Left ventr... OMIM:613838
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Quadriceps muscle weakness, Congestive heart failure, Elbow flexion contr... ORPHA:206546
Cardiomyopathy, Dilated, 1Kk
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Mitral regurgitati... OMIM:615248
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Congestive heart failure, Ragged-red muscle fibers, Myopathy, Arrhythmia, Left ventricular hypert... OMIM:540000
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cardiomyopathy, Familial Hypertrophic, 20
Hypertrophic cardiomyopathy, Reduced left ventricular ejection fraction, Atrial fibrillation, Lef... OMIM:613876
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Palpitations, Syncope, Ventricular arrhythmia, Sudden cardiac d... OMIM:610476
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Congestive heart failure, Elevated circulating aspartate aminotransferas... OMIM:619048
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Cardiomyopathy, Familial Hypertrophic, 30, Atrial
Atrial flutter, Reduced left ventricular ejection fraction, Left atrial enlargement, Increased ci... OMIM:620734
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Ventricular arrhythmia, Right ventricular cardiomyopathy, T-wave inversion in the right precordia... OMIM:602086
Preeclampsia/Eclampsia 1
Proteinuria, Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia OMIM:189800
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Ele... OMIM:604765
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Coproporphyria, Hereditary
Elevated urinary coproporphyrin level, Increased urinary porphobilinogen, Elevated urinary delta-... OMIM:121300
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Ventricular arrhythmia, Right ventricular cardiomyopathy, Sudden cardiac death OMIM:107970
Polycystic Kidney Disease 7
Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ... OMIM:620056
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi... ORPHA:353
Cardiomyopathy, Familial Hypertrophic, 11
Left anterior fascicular block, Atrial flutter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:612098
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Hypertrophic cardiomyopathy, Palpitations, Supraven... OMIM:608758
Multifocal Atrial Tachycardia
Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ... ORPHA:3282
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 18
Hypertrophic cardiomyopathy, Atrial fibrillation, Paroxysmal atrial fibrillation, Left ventricula... OMIM:613874
Cardiomyopathy, Familial Hypertrophic, 21
Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrop... OMIM:614676
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Myofibe... OMIM:619897
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Incomplete right bundle branch block, Congestive heart failure, Left vent... OMIM:601494
Loeffler Endocarditis
Aortic valve stenosis, Restrictive cardiomyopathy, Mitral regurgitation, Arrhythmia, Myocardial e... ORPHA:75566
Congenitally Uncorrected Transposition Of The Great Arteries
Congestive heart failure, Biventricular hypertrophy, Dextrotransposition of the great arteries, A... ORPHA:860
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Sick Sinus Syndrome 2
Aortic regurgitation, Torsade de pointes, Paroxysmal atrial fibrillation, Left ventricular noncom... OMIM:163800
Glomerulopathy With Fibronectin Deposits 2
Glomerulomegaly, Glomerular deposits, Glomerular fibronectin deposits, Stage 5 chronic kidney dis... OMIM:601894
Cirrhotic Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Arrhythmia, Elevated jugular venou... ORPHA:57777
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Palpitations, Syncope, Pulmon... ORPHA:422
Idiopathic Pulmonary Arterial Hypertension
Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmonary vascular res... ORPHA:275766
Cardiomyopathy, Familial Hypertrophic, 17
Hypertrophic cardiomyopathy, Palpitations, Angina pectoris, Left ventricular hypertrophy, Ventric... OMIM:613873
Fabry Disease
Lipiduria, Congestive heart failure, Transient ischemic attack, Renal insufficiency, Proteinuria,... OMIM:301500
Fixed Subaortic Stenosis
Aortic regurgitation, Bacterial endocarditis, Congestive heart failure, Paroxysmal atrial fibrill... ORPHA:3092
Glomerulopathy With Fibronectin Deposits 1
Nephropathy, Glomerular fibronectin deposits, Stage 5 chronic kidney disease, Renal insufficiency... OMIM:137950
Coronary Arterial Fistula
Aortic valve stenosis, Bacterial endocarditis, Continuous heart murmur, Congestive heart failure,... ORPHA:2041
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Increased circulating prolactin concentration, Cardiomyopathy, Pituitary prola... OMIM:102200
Congenital Gerbode Defect
Bacterial endocarditis, Elevated right atrial pressure, Right ventricular failure, Holosystolic m... ORPHA:99095
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Myocardial infarction, Diabetes mellitus, Hypercholesterolemia OMIM:608320
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Atrial Standstill
Left ventricular noncompaction, Arrhythmia, Atrial standstill, Muscular dystrophy, Abnormal heart... ORPHA:1344
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Myofibrillar Myopathy 10
Ankle flexion contracture, Increased QRS voltage, Elbow flexion contracture, Knee flexion contrac... OMIM:619040
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Paroxysmal atrial fibrillation... OMIM:604772
Acute Peripheral Arterial Occlusion
Abnormal capillary physiology, Supraventricular tachycardia, Limb muscle weakness, Abnormality of... ORPHA:90064
Cardiomyopathy, Dilated, 2I
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Supraventricular tac... OMIM:620462
Heparin-Induced Thrombocytopenia
Increased serum serotonin, Pulmonary embolism, Cerebral ischemia, Autoimmune thrombocytopenia, My... ORPHA:3325
Spastic Paraplegia-Nephritis-Deafness Syndrome
Nephropathy, Proteinuria, Hypertension ORPHA:2820
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Bundle branch block, Prolonged QRS complex, Supraventricular tachycardi... ORPHA:45453
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Prolonged QRS complex, ... OMIM:604400
Coenzyme Q10 Deficiency, Primary, 8
Elevated circulating creatinine concentration, Left ventricular hypertrophy, Abnormal renal corti... OMIM:616733
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Microscopic hematuria, Hypertension ORPHA:2613
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart valve m... ORPHA:1345
Iga Nephropathy, Susceptibility To, 2
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:613944
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, T-wave inversion, Syncope, Ventricular t... OMIM:611528
Classic Multiminicore Myopathy
Muscular dystrophy, Right ventricular failure, Congestive heart failure, Muscle fiber atrophy, Mu... ORPHA:324604
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Organic aciduria, Cardiomyopathy, Supraventricular tachycardia, Myopathy, Elevated circulating cr... OMIM:255100
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypoalbuminemia, Second degree atrioventricular block, Increased mean corpuscular volume, Decreas... OMIM:617021
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia, Chronic kidney disease, Acute kidney injury, Stage 5 chronic kidney disease, Ren... ORPHA:54370
Congenital Heart Defects, Multiple Types, 3
Atrioventricular block, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular dissocia... OMIM:614954
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Stage 5 chronic kidney disease, Renal i... OMIM:161900
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico... OMIM:617610
Iga Nephropathy, Susceptibility To, 3
IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Mesangial hypercellularity, Pro... OMIM:616818
Cardiomyopathy, Familial Hypertrophic, 12
Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Ventricular septal hypertrophy, Vent... OMIM:612124
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Second degree atrioventricular block, Biventricular hypertrophy, Patent foramen ovale, Ventricula... OMIM:615474
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertension, Hypertriglyceri... OMIM:610947
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure OMIM:609909
Familial Hyperaldosteronism Type Iii
Epistaxis, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, Left ventricular hypertr... ORPHA:251274
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Elevated circulating hepatic transaminase concentration, Cardiomegaly, Hyperprolinemia, Pulmonary... OMIM:619064
Focal Segmental Glomerulosclerosis 2
Focal segmental glomerulosclerosis, Chronic kidney disease, Stage 5 chronic kidney disease, Prote... OMIM:603965
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Transient ischemic attack, Hypertension OMIM:616779
Lipoyltransferase 1 Deficiency
Elevated circulating hepatic transaminase concentration, Decreased liver function, Increased tota... OMIM:616299
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Cardiomyocyte hypertr... ORPHA:263297
Takayasu Arteritis
Vasculitis, Hypertensive crisis, Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Ce... ORPHA:3287
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Timothy Syndrome
Atrioventricular block, Tetralogy of Fallot, Hypocalcemia, Patent foramen ovale, Ventricular sept... OMIM:601005
Amyloidosis, Hereditary Systemic 2
Nephropathy, Renal amyloidosis, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephrotic syn... OMIM:105200
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Severely reduced left ventricular ejection... ORPHA:444013
Acquired Aneurysmal Subarachnoid Hemorrhage
Vasospasm, Congestive heart failure, Hypopituitarism, Ischemic stroke, Cerebral ischemia, Leukocy... ORPHA:90065
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Splenic rupture, Internal hemorrhage, Micropenis, Tachycardia, Righ... ORPHA:335
Cardiomyopathy, Dilated, 2F
Dilated cardiomyopathy, Congestive heart failure, Severely reduced left ventricular ejection frac... OMIM:619747
Cardiomyopathy, Dilated, 2D
Dilated cardiomyopathy, Cardiogenic shock, Tricuspid regurgitation, Reduced left ventricular ejec... OMIM:619371
Congenital Aortic Valve Stenosis
Aortic valve stenosis, Aortic valve calcification, Abnormal pulse pressure, Increased QRS voltage... ORPHA:3093
Brugada Syndrome
Trifascicular block, Supraventricular tachycardia, Syncope, Paroxysmal ventricular tachycardia, F... ORPHA:130
Variegate Porphyria
Tachycardia, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Increased urinary porphob... OMIM:176200
Carnitine-Acylcarnitine Translocase Deficiency
Reduced tissue carnitine-acylcarnitine translocase activity, Ventricular hypertrophy, Hypotension... OMIM:212138
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure OMIM:616045
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Dilated cardiomyopathy, Atrial flutter, Prolonged QTc interval, C... OMIM:616117
Sengers Syndrome
Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Myopathy, Pulmonary arterial hypertensi... OMIM:212350
Atrial Fibrillation, Familial, 15
Atrial flutter, Supraventricular tachycardia, Left atrial enlargement, Atrial fibrillation, Sudde... OMIM:615770
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Ventricular arrhythmia, Dilated cardiomyopathy, Congestive hea... OMIM:600884
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Hyperprolinemia, Pulmonary arterial hypertension, Hyperalaninemia, Lacticaciduria... OMIM:619003
Overlap Myositis
Proximal muscle weakness in upper limbs, Perifascicular muscle fiber atrophy, Elevated circulatin... ORPHA:206572
Coenzyme Q10 Deficiency, Primary, 5
Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy, Hyperalaninemia... OMIM:614654
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Proteinuria, Hypertension, Mi... OMIM:613237
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Cardiomyopathy, Dilated, 1E
Atrial standstill, Atrioventricular block, Dilated cardiomyopathy, Atrial flutter, Premature atri... OMIM:601154
Cardiomyopathy, Dilated, 1G
Atrioventricular block, Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricula... OMIM:604145
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, El... OMIM:265450
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Stuve-Wiedemann Syndrome 2
Camptodactyly, Pulmonary arterial hypertension, Thrombocytopenia, Congestive heart failure OMIM:619751
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria, Hematuria, Hypertension OMIM:607832
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Increased circulating lactate dehydrogenase co... OMIM:614034
Cardiomyopathy, Dilated, 1Ii
Dilated cardiomyopathy, Mitral regurgitation, Elevated circulating creatine kinase concentration,... OMIM:615184
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Elevated circulating hepatic transaminase concentration, Increased circul... OMIM:600649
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypertrophic cardiomyopathy, Excessive insulin response to ... ORPHA:276556
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Palpitations, Cardiac arrest, Premature ventricular contraction, Syncope, Paroxysmal ventricular ... OMIM:614021
Apparent Mineralocorticoid Excess
Nephrocalcinosis, Renal insufficiency, Abnormality of circulating cortisol level, Decreased circu... ORPHA:320
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Elevated circulat... OMIM:615418
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Joint contracture of the hand, Elevated circulating hepatic transaminase... OMIM:300280
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Iga Nephropathy, Susceptibility To, 1
Nephritis, IgA deposition in the glomerulus, Stage 5 chronic kidney disease, Proteinuria, Hematur... OMIM:161950
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Muscular dystrophy, Left ventricular systolic dysfunction, Elevated circulating creatine kinase c... OMIM:613156
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Increased circulating lactate dehydrogenase concentration, Oligosacchariduria, Hype... ORPHA:308552
Relapsing Fever
Epistaxis, Hypotension, Acute kidney injury, Abnormality of the urinary system, Increased circula... ORPHA:91547
Familial Idiopathic Dilatation Of The Right Atrium
Atrioventricular block, Complete heart block with narrow QRS complexes, Holosystolic murmur, Paro... ORPHA:1677
Congenital Pulmonary Lymphangiectasia
Congestive heart failure, Tricuspid regurgitation, Splenomegaly, Pulmonary arterial hypertension,... ORPHA:2414
Long Qt Syndrome 15
Ventricular bigeminy, Left ventricular noncompaction, 2:1 atrioventricular block, Sinus bradycard... OMIM:616249
Erythrocytosis, Familial, 1
Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating hemoglob... OMIM:133100
Liddle Syndrome
Nephropathy, Cerebral ischemia, Renal insufficiency, Hypokalemia, Arrhythmia, Hypertension ORPHA:526
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Epistaxis, Ventricular hypertrophy, Second degree atrioventricular block, Hyperaldosteronism, Adr... ORPHA:369929
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Nephropathy, Type I diabetes mellitus, Abnormal mitral valve morphology, Proteinuria, Anemia, Nep... ORPHA:1192
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Palpitations, Excessive insulin response ... ORPHA:324575
Bronchopulmonary Dysplasia
Right ventricular failure, Right ventricular hypertrophy ORPHA:70589
Fibronectin Glomerulopathy
Hypoalbuminemia, Abnormal glomerular mesangium morphology, Renal insufficiency, Proteinuria, Micr... ORPHA:84090
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Increased LDL cholesterol concentration, Type II diabetes mellitus, Hyp... OMIM:615703
Snakebite Envenomation
Epistaxis, Hypotension, Cardiogenic shock, Acute kidney injury, Hypopituitarism, Cerebral ischemi... ORPHA:449285
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Danon Disease
Myocardial necrosis, Atrioventricular block, Dilated cardiomyopathy, Second degree atrioventricul... OMIM:300257
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrio... OMIM:611705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Premature ventricular ... OMIM:610193
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Congestive heart failure, Right ventricular cardiomyopathy, Premature ventricular contraction, Ve... OMIM:607450
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis, Angina pectoris, Arrhythmia, Syncope, Hypertension, Systolic heart... ORPHA:3193
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Increased hematocrit, Increased r... OMIM:263400
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pancytopenia, Hypersplenism, Mitral regurgitation, Splenomegaly... OMIM:230800
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Myop... OMIM:617713
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Interphalangeal thumb joint contracture, Ventricular septal defect, Atrial septal defect, Micrope... OMIM:613870
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Hyperammonemia, Ca... OMIM:619051
Long Qt Syndrome 13
Atrioventricular block, Pulmonary embolism, Congestive heart failure, Torsade de pointes, Reduced... OMIM:613485
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Elevated circulating tetradecanoylcarnitine concentration, Increased urine alpha-ketoglutarate co... OMIM:619355
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Congenital Disorder Of Glycosylation, Type It
Aborted sudden cardiac death, Intrahepatic cholestasis, Dilated cardiomyopathy, Elevated circulat... OMIM:614921
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Hyperechogenic kidneys, Pancytopenia, Leukopenia, Hyperur... OMIM:613845
Phosphoribosylpyrophosphate Synthetase Superactivity
Cardiomyopathy, Renal insufficiency, Hyperuricemia, Arrhythmia, Hypertension ORPHA:3222
Pseudo-Torch Syndrome 3
Acute kidney injury, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, Pr... OMIM:618886
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Chronic kidney disease, Acute kidney injury, Skeletal muscle atrophy, Hypertrophic cardiomyopathy... ORPHA:368
Tangier Disease
Distal amyotrophy, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Elevat... OMIM:205400
Atrial Standstill 1
Atrial standstill, Paroxysmal atrial fibrillation, Atrial cardiomyopathy, Premature atrial contra... OMIM:108770
Aapoaiv Amyloidosis
Chronic kidney disease, Renal amyloidosis, Atrial flutter, Hypertrophic cardiomyopathy, Elevated ... ORPHA:439232
Isolated Succinate-Coq Reductase Deficiency
Abnormal atrioventricular conduction, Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic ca... ORPHA:3208
Catecholaminergic Polymorphic Ventricular Tachycardia
Palpitations, Supraventricular tachycardia, Syncope, Ventricular tachycardia, Atrial fibrillation... ORPHA:3286
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Congestive heart failure, Tricusp... OMIM:613426
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Sys... ORPHA:99103
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hypoalbuminemia, Hyperechogenic kidneys, Stage 5 chronic kidn... OMIM:603278
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h... OMIM:108900
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Malignant Hyperthermia, Susceptibility To, 1
Hypotension, Hyperphosphatemia, Rhabdomyolysis, Elevated circulating creatine kinase concentratio... OMIM:145600
Idiopathic Non-Lupus Full-House Nephropathy
Acute kidney injury, Abnormal glomerular mesangium morphology, Elevated circulating creatinine co... ORPHA:567544
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Increased total bilirubin, Congestive heart failure, Splenomegaly, Autoim... ORPHA:90037
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Right... OMIM:253700
Combined Oxidative Phosphorylation Deficiency 30
Elevated gamma-glutamyltransferase level, Decreased liver function, Elevated circulating aspartat... OMIM:616974
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Right bundle branch block, Sudden cardiac death, Cardiomyopathy OMIM:192605
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Cardiomyopathy, Cardiomegaly, Arrhythmia, Abnormal renal phy... ORPHA:85447
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephropathy, Aminoaciduria, Nephrocalcinosis, Giant cell hepatitis, Arthrogryposis multiplex cong... OMIM:613404
Pheochromocytoma--Islet Cell Tumor Syndrome
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171420
Congenital Tricuspid Valve Dysplasia
Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardi... ORPHA:555874
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Dilatat... OMIM:609040
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Syncope, Ventricular tachycardia, Ventricular fibrillation, Ca... OMIM:614916
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Tetralogy of Fallot, Congenital diaphragmatic hernia, Pulmonary arterial... OMIM:300887
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Patent foramen ovale, Pulmonary arterial hypertension, Right atrial ... OMIM:616028
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, A... ORPHA:45452
Obesity Due To Melanocortin 4 Receptor Deficiency
Type II diabetes mellitus, Hyperinsulinemia, Hypertension, Hypertriglyceridemia ORPHA:71529
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Homocystinuria, Methylmalonic aciduria, Elevated circulating propionylcarnitine concentration, De... OMIM:614857
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Oligosacchariduria, Congestive heart failure, Keratan sulfate excretion in ... ORPHA:423461
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Glomerular sclerosis, Micropenis, Hep... OMIM:619487
Catastrophic Antiphospholipid Syndrome
Pulmonary embolism, Arterial occlusion, Microangiopathic hemolytic anemia, Abnormal heart valve m... ORPHA:464343
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Hypertension, Diabetes mellitus ORPHA:79084
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Preeclampsia
Chronic kidney disease, Elevated systolic blood pressure, Acute kidney injury, Type I diabetes me... ORPHA:275555
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephropathy, Aminoaciduria, Nephrocalcinosis, Elevated gamma-glutamyltransferase level, Arthrogry... OMIM:208085
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Atrial fibrillation, Muscular dystrophy, Dilated cardiomyopathy, Sinoatrial block, Atrial flutter... ORPHA:300751
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Urinary retention, Recurrent urinary tract... ORPHA:976
Optic Atrophy 16
Paroxysmal tachycardia OMIM:620629
Mitochondrial Complex I Deficiency, Nuclear Type 6
Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy OMIM:618228
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Elevated gamma-glutamyltransferase level, Recurrent urinary tract infections, Elevated circulatin... OMIM:613095
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Hypertriglyceridemia, Calf muscle hypertrophy, Abnormal circulating hormone con... ORPHA:280356
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Congestive heart failure, Hypertrophic cardiomyop... OMIM:614096
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Potocki-Shaffer Syndrome
Nephroblastoma, Anemia, Hypothyroidism, Delayed puberty, Micropenis, Hypertension ORPHA:52022
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Stiff-Person Syndrome
Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Anemia, Tachycardia, Hypertensi... OMIM:184850
Tako-Tsubo Cardiomyopathy
Abnormal circulating B-type natriuretic peptide concentration, Dilatation of the ventricular cavi... ORPHA:66529
Glycogen Storage Disease Xv
Cardiomyocyte hypertrophy, Type 1 muscle fiber predominance, T-wave inversion, Paroxysmal ventric... OMIM:613507
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Chemodectoma, Palpitations, Hypertension associated wit... OMIM:605373
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio, Hypertension OMIM:617027
Congenital Tricuspid Stenosis
Hypotension, Congestive heart failure, Tricuspid regurgitation, Pulmonary arterial hypertension, ... ORPHA:95459
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Familial Cervical Artery Dissection
Transient ischemic attack, Cerebral ischemia, Subarachnoid hemorrhage, Recurrent cerebral hemorrh... ORPHA:36382
Ethanolaminosis
Cardiomegaly OMIM:227150
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Systolic heart murmur, Aortic... ORPHA:2299
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Ketonuria, Tricuspid regurgitation, Left ventricular noncompaction, Left ... OMIM:619167
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Raynaud phenomenon, Thrombocytopenia ORPHA:401945
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Left bundle branch block, Hepatomegaly, Rig... OMIM:115197
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Hypomethioninemia, Hematuria, Neutropenia, Hepatomegaly, Tachycardia, Methylmalonic ... OMIM:277400
Porphyria Variegata
Chronic kidney disease, Proximal muscle weakness in upper limbs, Elevated circulating hepatic tra... ORPHA:79473
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Sickle Cell Disease
Splenic infarction, Increased red cell sickling tendency, Hemolytic anemia, Renal insufficiency, ... OMIM:603903
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Rhabdomyolysis, Hypokalemia, Hyperthyroidism, Tachycardia OMIM:188580
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Chro... ORPHA:90033
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral ischemia, Throm... OMIM:263300
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Syncope, Ventricular tachycardia, Ventricular fibrillati... OMIM:603830
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Palpitations, Caroti... OMIM:168000
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Sneddon Syndrome
Lymphopenia, Ischemic stroke, Bicuspid aortic valve, Cerebral hemorrhage, Facial palsy, Hypertension OMIM:182410
Mitochondrial Trifunctional Protein Deficiency
Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Lower limb muscle weakness, Mi... ORPHA:746
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation,... ORPHA:615
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Syncope, Abnormal QRS complex, Bradycardia OMIM:614896
Foxp1 Syndrome
Decreased circulating iron concentration, Abnormal heart morphology, Pulmonary arterial hypertens... ORPHA:391372
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612925
Meckel Syndrome, Type 7
Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d... OMIM:267010
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary arterial hypertension OMIM:234810
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Shock, Premature ventricular contraction, Syncope, Prolonged QT interval, Cardiac arrest, Polymor... OMIM:615441
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Transient ischemic attack, Pulmonary hemorrhage, Palpitations,... ORPHA:2038
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Abnormal circulating lip... OMIM:615980
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Cardiomyopathy, Familial Hypertrophic, 7
Ventricular hypertrophy, Apical hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy, Wolff-P... OMIM:613690
Senior-Loken Syndrome
Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis, Hypertension ORPHA:3156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612926
Hereditary Coproporphyria
Nephropathy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, El... ORPHA:79273
Muscular Dystrophy, Congenital, Lmna-Related
Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Paroxysmal atrial fibrillation... OMIM:613205
Thiamine-Responsive Megaloblastic Anemia Syndrome
Congestive heart failure, Ventricular septal defect, Paroxysmal atrial tachycardia, Megaloblastic... ORPHA:49827
Rh Deficiency Syndrome
Stomatocytosis, Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Hy... ORPHA:71275
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hypertriglyceridemia, Hepatomegaly, Hypertension, Increased C-peptid... OMIM:615238
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hypotension, Decreased circulating carnitine co... ORPHA:159
C3 Glomerulopathy
Chronic kidney disease, Acute kidney injury, Glomerular extracapillary hypercellularity, Elevated... ORPHA:329918
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car... ORPHA:99725
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Ragged-red muscle ... ORPHA:1349
Neuroleptic Malignant Syndrome
Hyperphosphatemia, Rhabdomyolysis, Elevated circulating alkaline phosphatase concentration, Arrhy... ORPHA:94093
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Atrioventricular block, Dilated cardiomyopathy, Increased circulating free fatty acid level, Elev... ORPHA:26793
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Hypertrophic cardio... ORPHA:324
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly, Pulmonary arterial hypertension, Hypertension OMIM:613320
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Increased variability in muscle fiber diameter, Proximal muscle weakness in lower limbs, Muscular... OMIM:619566
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Elevated circulating creatinine c... OMIM:612924
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Elevated circulating phytanic acid concentration, Limb ... OMIM:266500
Brugada Syndrome 1
Atrial flutter, Supraventricular tachycardia with an accessory connection mediated pathway, Synco... OMIM:601144
Leber Hereditary Optic Neuropathy
Arrhythmia, Myopathy, Retinal telangiectasia, Ventricular preexcitation ORPHA:104
Naxos Disease
Dilated cardiomyopathy, Congestive heart failure, Abnormal heart morphology, Right ventricular ca... OMIM:601214
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Elevated circulating alkaline phosphatase concent... OMIM:616833
Corticosteroid-Binding Globulin Deficiency
Hypotension, Hypokalemia, Decreased circulating cortisol level, Decreased urinary potassium, Anem... OMIM:611489
Nephronophthisis 2
Nephronophthisis, Hyperechogenic kidneys, Elevated circulating creatinine concentration, Stage 5 ... OMIM:602088
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction, Left ventricula... OMIM:615373
Rhabdoid Tumor
Hematuria, Hypertension, Anemia, Internal hemorrhage, Thrombocytopenia, Renal neoplasm, Hypercalc... ORPHA:69077
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Denys-Drash Syndrome
Nephropathy, Nephroblastoma, Proteinuria, Nephrotic syndrome, Hypertension ORPHA:220
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia ORPHA:276608
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Atrial Fibrillation, Familial, 14
Paroxysmal atrial fibrillation, Prolonged PR interval, ST segment elevation, Hypertension OMIM:615378
Malignant Hyperthermia Of Anesthesia
Cardiomyocyte mitochondrial proliferation, Acute kidney injury, Hyperphosphatemia, Necrotizing my... ORPHA:423
Lipodystrophy, Familial Partial, Type 4
Insulin-resistant diabetes mellitus, Hypertension, Skeletal muscle hypertrophy, Hypertriglyceridemia OMIM:613877
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated circulating hepatic transaminase concentration, Glycosuria, Hyperinsulinemia, Hypophosph... ORPHA:263455
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Chronic Atrial And Intestinal Dysrhythmia
Atrial flutter, Ventricular escape rhythm, Mitral regurgitation, Bicuspid aortic valve, Left atri... OMIM:616201
Limited Cutaneous Systemic Sclerosis
Joint contracture of the hand, Foot joint contracture, Telangiectasia of the skin, Pulmonary arte... ORPHA:220402
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Abnormal circulating enzyme concentration or activ... ORPHA:98915
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Cardiomyopathy, Congestive heart failure, Hypertro... OMIM:212140
Eisenmenger Syndrome
Abnormal circulating B-type natriuretic peptide concentration, Ventricular septal defect, Elevate... ORPHA:97214
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Lymphopenia, Neutropenia, Focal segmental glomeru... ORPHA:1830
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Premature ventricular contraction, Tachycardia, Syncope OMIM:192445
Moyamoya Disease 6 With Or Without Achalasia
Ischemic stroke, Hypertension, Raynaud phenomenon, Thrombocytopenia OMIM:615750
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Pulmonary Hypertension, Primary, 4
Pulmonary arterial hypertension with lack of acute response to NO challenge, Atrial flutter, Incr... OMIM:615344
Naxos Disease
Cardiomyopathy, Congestive heart failure, Arrhythmia, Paroxysmal ventricular tachycardia, Sudden ... ORPHA:34217
Lipodystrophy, Familial Partial, Type 1
Hepatomegaly, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:608600
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:242900
Diffuse Cutaneous Systemic Sclerosis
Hypertensive crisis, Oliguria, Congestive heart failure, Renal insufficiency, Telangiectasia of t... ORPHA:220393
Alagille Syndrome 2
Renal hypoplasia, Tetralogy of Fallot, Renal insufficiency, Renal tubular acidosis, Proteinuria, ... OMIM:610205
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Elevated circulating hepatic tra... ORPHA:42
Glutaric Aciduria Iii
Glutaric aciduria, Goiter, Hyperthyroidism, Hypertension, Reduced peroxisomal glutaryl-CoA oxidas... OMIM:231690
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Hemochromatosis, Type 1
Increased circulating iron concentration, Elevated circulating hepatic transaminase concentration... OMIM:235200
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphrag... OMIM:166300
Cirrhosis, Familial
Increased level of L-fucose in urine, Increased level of propylene glycol in blood, Pulmonary art... OMIM:215600
Sneddon Syndrome
Nephropathy, Intracranial hemorrhage, Hypertension ORPHA:820
Cardiomyopathy, Familial Hypertrophic, 6
Aborted sudden cardiac death, Atrioventricular block, Congestive heart failure, Hypertrophic card... OMIM:600858
Polyarteritis Nodosa
Cardiomyopathy, Raynaud phenomenon, Abnormality of the kidney, Elevated circulating C-reactive pr... ORPHA:767
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Hypokalemia, Increased circulating free T4 c... OMIM:613239
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Heparan sulfate excretion in urine, Contracture of... OMIM:607015
Hyperaldosteronism, Familial, Type Ii
Hypokalemia, Hypertension, Hyperaldosteronism OMIM:605635
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Pheochromocytoma
Elevated urinary norepinephrine level, Congestive heart failure, Positive regitine blocking test,... OMIM:171300
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypotension, Acute kidney injury, Elevated circulating hepatic transaminase concentration, Reduce... ORPHA:542323
Laubry-Pezzi Syndrome
Aortic regurgitation, Congestive heart failure, Palpitations, Patent foramen ovale, Mildly reduce... ORPHA:99094
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, Tubulointe... ORPHA:85450
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Atrial flutter, Third degree atrioventricular block, Second degree atriov... OMIM:115200
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Infantile Sialic Acid Storage Disease
Congestive heart failure, Splenomegaly, Cardiomegaly, Vacuolated lymphocytes, Hepatomegaly, Nephr... OMIM:269920
Hyperaldosteronism, Familial, Type I
Abnormality of the urinary system, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating... OMIM:103900
Nephronophthisis 18
Thickened glomerular basement membrane, Nephronophthisis, Stage 5 chronic kidney disease, Renal t... OMIM:615862
Chronic Thromboembolic Pulmonary Hypertension
Right ventricular failure, Pulmonary embolism, Increased HDL cholesterol concentration, Congestiv... ORPHA:70591
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Sudden cardiac death, Prolonged QTc interval OMIM:220400
Total Anomalous Pulmonary Venous Return 1
Total anomalous pulmonary venous return, Pulmonary arterial hypertension, Dextrocardia OMIM:106700
Acquired Methemoglobinemia
Palpitations, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia ORPHA:464453
Absence Of The Pulmonary Artery
Atrial flutter, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal EKG, Reduce... ORPHA:980
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Mitral regurgitation, Ventricular septal defect, Left ventricular hy... OMIM:615355
Myotonic Dystrophy 2
Sternocleidomastoid amyotrophy, Hypogonadism, Palpitations, Type II diabetes mellitus, Elevated c... OMIM:602668
Cardiomyopathy, Dilated, 1Nn
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Mit... OMIM:615916
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Elevated urinary dopamine level, Sinus tachycardia, Elevated urin... ORPHA:94080
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral regurgitation, Mitral valve prolapse, Hypertension, Polycystic kidney... OMIM:173900
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypertension, Renal salt wasting, Elevated circulating 21-deoxycortisol conc... OMIM:201910
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Elevat... OMIM:255120
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Nephropathy, Elevated gamma-glutamyltransferase level, Gastrointestinal hemorrhage, Normocytic an... ORPHA:247691
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Aborted sudden cardiac death, Polymorphic and polytopic ventricular extrasystoles, Torsade de poi... OMIM:115000
Systemic Lupus Erythematosus 17
Hypertensive crisis, Lymphopenia, Leukopenia, Mitral regurgitation, Raynaud phenomenon, Thrombocy... OMIM:301080
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:613243
Familial Thrombocytosis
Chronic myelogenous leukemia, Transient ischemic attack, Cerebral ischemia, Splenomegaly, Pulmona... ORPHA:71493
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Elevated circulating alkaline phosphata... ORPHA:275761
Gaucher Disease Type 1
Elevated circulating CCL18 level, Splenic infarction, Hepatic failure, Increased circulating ferr... ORPHA:77259
Porphyria, Acute Intermittent
Urinary retention, Dysuria, Elevated urinary delta-aminolevulinic acid, Reduced erythrocyte porph... OMIM:176000
Methanol Poisoning
Type I diabetes mellitus, Inflammatory arteriopathy, Permanent atrial fibrillation, Hyperlipidemi... ORPHA:31825
Cardiomyopathy, Dilated, 1Oo
Dilated cardiomyopathy, Second degree atrioventricular block, Congestive heart failure, Reduced l... OMIM:620247
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Ciliary Dyskinesia, Primary, 53
Polysplenia, Situs inversus totalis, Patent foramen ovale, Cardiomegaly, Perimembranous ventricul... OMIM:620642
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Pulmonary arterial hypertension, Hyperglycinemia OMIM:619059
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Pulmonary arterial hypertension ORPHA:1164
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Congestive heart failure, Left ventricular noncompaction cardiomyopathy, ... OMIM:611878
Tetanus
Elevated urinary norepinephrine level, Elevated circulating creatine kinase concentration, Bradyc... ORPHA:3299
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hypotension, Elevated total serum tryptase, Chronic myelomonocytic leukemia, L... ORPHA:98849
Nephronophthisis 1
Tubular basement membrane disintegration, Nephronophthisis, Stage 5 chronic kidney disease, Renal... OMIM:256100
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:613327
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Hyperphosphatemia, Hematuria, Glomerulonephritis, Tubulointerstitial neph... ORPHA:340
Frasier Syndrome
Focal segmental glomerulosclerosis, Decreased serum estradiol, Streak ovary, Renal insufficiency,... ORPHA:347
Pseudohypoaldosteronism, Type Iia
Pseudohypoaldosteronism, Hyperkalemia, Hypertension OMIM:145260
Sickle Cell Anemia
Splenic infarction, Hypochromic anemia, Increased circulating lactate dehydrogenase concentration... ORPHA:232
Hydroxykynureninuria
Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, Renal tubular acidosis ORPHA:79155
Long Qt Syndrome 2
Notched T wave, Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventric... OMIM:613688
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Gastrointestinal hemorrhage, Congestive heart failure, Abnormal heart valv... ORPHA:363705
Long Qt Syndrome 9
Abnormal U wave, Sinus bradycardia, Prolonged QT interval, Syncope, Ventricular arrhythmia, Cardi... OMIM:611818
Dehydrated Hereditary Stomatocytosis
Neonatal hyperbilirubinemia, Increased circulating lactate dehydrogenase concentration, Polycythe... ORPHA:3202
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Decreased response to growth hormone stimulation test, Ischemic stroke, D... ORPHA:280679
Romano-Ward Syndrome
Abnormal T-wave, Torsade de pointes, Sinus bradycardia, Hypokalemia, Syncope, Ventricular arrhyth... ORPHA:101016
Pediatric-Onset Graves Disease
Elevated circulating hepatic transaminase concentration, Graves disease, Sinus tachycardia, Conge... ORPHA:525731
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Increased LDL cholesterol concentration, Type II diabete... OMIM:618620
Interstitial Lung Disease 2
Pulmonary arterial hypertension OMIM:178500
Immunodeficiency 87 And Autoimmunity
Elevated gamma-glutamyltransferase level, Biventricular hypertrophy, Lymphopenia, Decreased CD4:C... OMIM:619573
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Hypertro... OMIM:601419
Meconium Aspiration Syndrome
Pulmonary insufficiency, Pulmonary arterial hypertension, Maternal diabetes, Abnormal heart rate ... ORPHA:70588
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Heart murmur, Hypo... ORPHA:3426
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Retinal hemorrhage, Hematuria, Neutrophilia, Hepatomegaly, Tachycardia, Jaundice, D... ORPHA:99827
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Elevated urinary dopamine level, Elevated urinar... OMIM:171400
Familial Hyperaldosteronism Type I
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Dexamethasone-suppressible prim... ORPHA:403
Long Qt Syndrome 6
Torsade de pointes, Syncope, Sudden cardiac death, Prolonged QT interval, Ventricular fibrillatio... OMIM:613693
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Elevated circulating hepatic transaminase conce... OMIM:616878
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Myopathy, Hypertriglyceridemia, Hepatomegaly, Hypertension ORPHA:363400
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Adrenocortical adenoma, Pheochromocytoma, Arrh... ORPHA:139411
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased circulating cortisol level, Abnormal T-wave, Palpitations, Increased urinary... ORPHA:231625
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Left v... OMIM:619698
Coach Syndrome 2
Elevated circulating creatinine concentration, Elevated circulating hepatic transaminase concentr... OMIM:619111
Mercury Poisoning
Acute kidney injury, Hypotension, Hypokalemia, Tachycardia, Hypertension ORPHA:330021
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy OMIM:614458
Seckel Syndrome 10
Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Glycosuria, Congestive h... OMIM:617253
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Congestive heart failure, Hypertrophic cardiomyopathy, Splen... ORPHA:79083
Familial Hyperaldosteronism Type Ii
Epistaxis, Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulati... ORPHA:404
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Cyclic neutropenia, Decreased glomerular f... OMIM:232240
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal heart morphology, Tachycardia, Abnormal circulating enzyme concentration or activity ORPHA:79264
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Reduced tissue fructose-1,6-bisphosphatase activity, Increased urinary... OMIM:229700
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi... OMIM:264800
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Pulmonary arterial hypertension, Hypospadias, Bradycardia OMIM:619272
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Cardiac arrest, Bradycardia ORPHA:70587
Cocaine Intoxication
Rhabdomyolysis, Hematuria, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Diffuse... ORPHA:90068
Sepsis In Premature Infants
Hypotension, Oliguria, Decreased liver function, Reversible renal failure, Splenomegaly, Leukocyt... ORPHA:90051
Scimitar Syndrome
Hypoplastic left heart, Abnormal hemidiaphragm morphology, Congestive heart failure, Abnormal hea... ORPHA:185
Glycogen Storage Disease Ii
Firm muscles, Urinary incontinence, Reduced muscle alpha-1,4-glucosidase activity, Increased circ... OMIM:232300
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Diabetes insipidus, Hypogonadism, Limb muscle weakness, Facial palsy, Hy... ORPHA:97229
Long Qt Syndrome 1
Torsade de pointes, Syncope, Prolonged QT interval, Ventricular fibrillation, Sudden cardiac deat... OMIM:192500
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Elevated circulating creatinine concentration, Proteinuria, Hematuria, Hy... OMIM:123550
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Hypotension, Impaired renal uric acid clearance, Tubular basement membrane disintegration, Renal ... OMIM:174000
Serotonin Syndrome
Acute kidney injury, Hypotension, Hepatic failure, Rhabdomyolysis, Tachycardia, Hypertension ORPHA:43116
Polycythemia Vera
Epistaxis, Gastrointestinal hemorrhage, Acute leukemia, Pulmonary embolism, Polycythemia, Budd-Ch... ORPHA:729
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Hypophosphatemic rickets... OMIM:208000
Autosomal Dominant Progressive External Ophthalmoplegia
Limb muscle weakness, Myopathy, Arrhythmia, Hypomimic face, Quadriceps muscle weakness, Goiter, P... ORPHA:254892
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Long-Olsen-Distelmaier Syndrome
Dilated cardiomyopathy, Secundum atrial septal defect, Congestive heart failure, Elevated circula... OMIM:620609
Wolff-Parkinson-White Syndrome
Atrial flutter, Paroxysmal atrial fibrillation, Palpitations, Prolonged QRS complex, Shortened PR... OMIM:194200
Pseudohypoaldosteronism Type 2
Hyperkalemia, Hypertension ORPHA:757
Microcephaly-Capillary Malformation Syndrome
Vesicoureteral reflux, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, Rig... OMIM:614261
Alport Syndrome 2, Autosomal Recessive
Thickened glomerular basement membrane, Nephritis, Glomerular basement membrane lamellation, Stag... OMIM:203780
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Stage 5 chronic kidney disease, Hypophosphatemic rickets, Proteinuria,... OMIM:618913
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Alpha-amino... OMIM:605711
Renal Hypoplasia
Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec... ORPHA:93101
Narcolepsy Type 1
Precocious puberty, Syncope, Hypertension, Nocturia ORPHA:2073
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hypergonadotropic hypogonadism, Lower limb muscle weakness OMIM:619737
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:85202
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Syncope, Iron deficiency anemia, Ventricular fibrillation, Prolon... ORPHA:90647
Glycogen Storage Disease Due To Acid Maltase Deficiency
Vasculitis, Macroglossia, Increased circulating lactate dehydrogenase concentration, Oligosacchar... ORPHA:365
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Transient ischemic attack, Ischemic stroke, Cerebral ischemia, Stress urinary incontinence, Cereb... ORPHA:136
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Ochoa Syndrome
Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie... ORPHA:2704
Braddock Syndrome
Unilateral renal agenesis, Pulmonary arterial hypertension, Congenital muscular torticollis ORPHA:52047
Acute Intermittent Porphyria
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Urinary retenti... ORPHA:79276
Sudden Cardiac Failure, Infantile
Congestive heart failure, Hypertrophic cardiomyopathy, Bradycardia, Myocarditis, Sudden cardiac d... OMIM:617222
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy OMIM:620145
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Pulmonary arterial hypertension, Splenomegaly, Facial palsy OMIM:612387
Neuraminidase Deficiency
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomyopathy, Increa... OMIM:256550
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Atrioventricular block, Atrial flutter, Congestive heart failure,... ORPHA:137675
Symptomatic Form Of Hfe-Related Hemochromatosis
Cardiomyopathy, Congestive heart failure, Increased circulating ferritin concentration, Decreased... ORPHA:465508
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hypertension, Decreased liver function OMIM:600666
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Syncope, Prolonged QT interval, Sudden car... OMIM:612347
Mixed-Type Autoimmune Hemolytic Anemia
Tachycardia, Abnormal urinary color, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hypert... OMIM:618061
Melas
Nephropathy, Type II diabetes mellitus, Myopathy, Hypoparathyroidism, Focal segmental glomerulosc... ORPHA:550
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Reduced haptoglobin level, Hemosiderinuria, Jaundice, Uncon... ORPHA:447
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Reduced circulating growt... OMIM:300845
Acquired Generalized Lipodystrophy
Cardiomyopathy, Abnormal circulating lipid concentration, Insulin-resistant diabetes mellitus, Hy... ORPHA:79086
Glucocorticoid Resistance, Generalized
Increased circulating cortisol level, Increased circulating ACTH level, Increased circulating and... OMIM:615962
Familial Isolated Restrictive Cardiomyopathy
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Mitral regurgitation, Pulmonary venous hype... ORPHA:75249
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Abnormal urinary electrolyte concentration, Recurrent urinary tract infec... ORPHA:730
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Lymphopenia, Hepatosplenomegaly, Mitral regurgitation, Myopathy, Neutropenia, Hepatomegaly, Eryth... OMIM:612541
Truncus Arteriosus
Aortic regurgitation, Abnormal heart morphology, Tetralogy of Fallot, Abnormal heart valve morpho... ORPHA:3384
Pheochromocytoma/Paraganglioma Syndrome 4
Chemodectoma, Palpitations, Hypertension associated with pheochromocytoma, Elevated urinary catec... OMIM:115310
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Combined Oxidative Phosphorylation Deficiency 10
Hypertrophic cardiomyopathy, Hyperammonemia, Cardiomegaly, Hyperalaninemia, Bradycardia, Pericard... OMIM:614702
Atrial Fibrillation, Familial, 18
Third degree atrioventricular block, Paroxysmal atrial fibrillation, Palpitations, Permanent atri... OMIM:617280
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Hypotension, Hepatitis, Recurrent urinary tract infections, Shock, Elevated circ... ORPHA:36234
Scorpion Envenomation
Rhabdomyolysis, Premature ventricular contraction, Arrhythmia, Tachycardia, Acute kidney injury, ... ORPHA:466677
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Hematuri... ORPHA:77261
Andersen-Tawil Syndrome
Renal hypoplasia, Dilated cardiomyopathy, Prominent U wave, Polymorphic and polytopic ventricular... ORPHA:37553
Wild Type Attr Amyloidosis
Aortic valve stenosis, Nephropathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorm... ORPHA:330001
Kagami-Ogata Syndrome
Diastasis recti, Splenomegaly, Ventricular septal defect, Pulmonary arterial hypertension, Atrial... OMIM:608149
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Stiff Skin Syndrome
Type II diabetes mellitus, Hypertension, Abnormal circulating lipid concentration, Nephrolithiasis ORPHA:2833
Ganglioneuroma
Gastrointestinal hemorrhage, Abnormality of the adrenal glands, Hypertension, Neoplasm of the adr... ORPHA:251992
Pulmonary Hypertension, Primary, 2
Abnormally loud pulmonic component of the second heart sound, Pulmonary arterial hypertension, In... OMIM:615342
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Abnormal heart valve morphology, Mitral regurgitat... ORPHA:230851
Renal Hypoplasia, Bilateral
Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas... ORPHA:97362
Mixed Connective Tissue Disease
Nephropathy, Gastrointestinal hemorrhage, Leukopenia, Splenomegaly, Myositis, Hepatomegaly, Pulmo... ORPHA:809
Liddle Syndrome 1
Renal insufficiency, Decreased circulating renin level, Hypokalemia, Decreased circulating aldost... OMIM:177200
Antisynthetase Syndrome
Aortic regurgitation, Elevated circulating creatine kinase concentration, Myositis, Pulmonary art... ORPHA:81
Histiocytosis-Lymphadenopathy Plus Syndrome
Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa... OMIM:602782
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Renal insufficiency, Hypocalcemia, Renal tubular dy... ORPHA:31826
Senior-Boichis Syndrome
Chronic kidney disease, Renal hypoplasia, Elevated circulating hepatic transaminase concentration... ORPHA:84081
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Type I diabetes mellitus, Functional abnormality of the bladder, Hepatitis, Congestive heart fail... ORPHA:391487
Simple Cryoglobulinemia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Viral hepatitis, Congestive heart failure, Ab... ORPHA:91139
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Decreased circulating aldosterone level, Hypertension, Decreased circulating renin level OMIM:605115
Nestor-Guillermo Progeria Syndrome
Sinus tachycardia, Mitral regurgitation, Right bundle branch block, Left atrial enlargement, Pulm... OMIM:614008
Long Qt Syndrome 16
Second degree atrioventricular block, T-wave alternans, Perimembranous ventricular septal defect,... OMIM:618782
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect... ORPHA:210122
Eosinophilic Granulomatosis With Polyangiitis
Vasculitis, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal pericardium morpholog... ORPHA:183
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Hypotension, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy,... OMIM:261740
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of