Gene: Nppa MGI:97367

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:

atrial natriuretic peptide, ANP, natriuretic peptide precursor A, Anf, Pnd

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.

Human diseases associated with Nppa (3 diseases)
Human diseases predicted to be associated with Nppa (839 diseases)

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

Disease	Matching phenotypes	Source
Atrial Standstill	Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,...	ORPHA:1344
Atrial Standstill 2	Palpitations, Dyspnea, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial ar...	OMIM:615745
Atrial Fibrillation, Familial, 6	Atrial fibrillation	OMIM:612201

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

Disease	Matching phenotypes	Source
Hypertension, Essential	Elevated mean arterial pressure, Elevated diastolic blood pressure, Elevated systolic blood pressure	OMIM:145500
Rowley-Rosenberg Syndrome	Cor pulmonale, Aminoaciduria, Hypertension, Atelectasis, Right ventricular hypertrophy, Recurrent...	OMIM:268500
Congenital Pulmonary Veins Atresia Or Stenosis	Abnormal cardiac septum morphology, Hypertension	ORPHA:3188
Trimethylaminuria	Recurrent pneumonia, Neutropenia, Hypertension, Tachycardia, Anemia, Splenomegaly, Trimethylaminuria	OMIM:602079
Hyperaldosteronism, Familial, Type Iv	Hypertension	OMIM:617027
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Ventricular arrhythmia, Sudden cardiac death, Endocardial fibrosis, Congestive heart failure, Lef...	OMIM:601493
Cardiomyopathy, Familial Restrictive, 1	Sudden cardiac death, Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hyper...	OMIM:115210
Familial Dilated Cardiomyopathy	Abnormal circulating creatine kinase concentration, Palpitations, Reduced ejection fraction, Arrh...	ORPHA:217607
Cardiomyopathy, Dilated, 1R	Ventricular arrhythmia, Restrictive cardiomyopathy, Congestive heart failure, Left ventricular hy...	OMIM:613424
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Cardiomyocyte hypertrophy, Endocardial fibroelastosis, Atrial fibrillation, Atrioventricular bloc...	OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 21	Mitral valve prolapse, Arrhythmia, Left ventricular hypertrophy, Cardiomyopathy	OMIM:614676
Peripartum Cardiomyopathy	Exertional dyspnea, Abnormal T-wave, Anemia, Myocarditis, Pulmonary arterial hypertension, Abnorm...	ORPHA:563
His Bundle Tachycardia	Neoplasm of the heart, Junctional ectopic tachycardia, Arrhythmia, Cardiomyopathy	ORPHA:3283
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Elevated circulating aspartate aminotransferase concentration, Apnea, Ventricular hypertrophy, El...	OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 8	Palpitations, Exertional dyspnea, Restrictive cardiomyopathy, T-wave inversion, Sudden cardiac de...	OMIM:608751
Pulmonary Hypertension, Primary, Autosomal Recessive	Right ventricular failure, Exertional dyspnea, Angina pectoris, Right ventricular hypertrophy, Pu...	OMIM:265400
Left Ventricular Noncompaction 1	Ventricular arrhythmia, Ventricular septal defect, Atrial fibrillation, Sudden cardiac death, Con...	OMIM:604169
Coronary Artery Disease, Autosomal Dominant, 1	Myocardial infarction, Hypertension	OMIM:608320
Intracranial Hypertension, Idiopathic	Hypertension	OMIM:243200
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Arrhythmia, Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Hypertension, Con...	OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 17	Palpitations, Myocardial fibrosis, Dyspnea, Ventricular tachycardia, Left ventricular hypertrophy...	OMIM:613873
Cardiomyopathy, Dilated, 1D	Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Dilated cardiomyopat...	OMIM:601494
Cardiomyopathy, Familial Hypertrophic, 25	Dilated cardiomyopathy, Left ventricular hypertrophy, Wolff-Parkinson-White syndrome	OMIM:607487
Cardiomyopathy, Familial Hypertrophic, 10	Palpitations, Asymmetric septal hypertrophy, Dyspnea, T-wave inversion, Ventricular tachycardia, ...	OMIM:608758
Coproporphyria, Hereditary	Hypertension, Respiratory paralysis, Hepatomegaly, Jaundice, Tachycardia, Splenomegaly, Increased...	OMIM:121300
Atrial Septal Defect, Sinus Venosus Type	Premature atrial contractions, Cardiac conduction abnormality, Exertional dyspnea, Atrial flutter...	ORPHA:99105
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom...	OMIM:611556
Abdominal Obesity-Metabolic Syndrome 1	Hypertension	OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2	Hypertension	OMIM:605572
Preeclampsia/Eclampsia 1	Thrombocytopenia, Elevated hepatic transaminase, Hypertension, Proteinuria	OMIM:189800
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	EMG: myopathic abnormalities, Macroglossia, Scapular winging, Left ventricular systolic dysfuncti...	ORPHA:353
Cardiomyopathy, Dilated, 1Kk	Atrial fibrillation, Congestive heart failure, Left ventricular hypertrophy, Ventricular septal h...	OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 18	Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy	OMIM:613874
Idiopathic/Heritable Pulmonary Arterial Hypertension	Palpitations, Dyspnea, Abnormal cardiovascular system physiology, Tricuspid regurgitation, Right ...	ORPHA:422
Bronchopulmonary Dysplasia	Wheezing, Right ventricular failure, Respiratory distress, Abnormal respiratory system physiology...	ORPHA:70589
Atrial Fibrillation, Familial, 10	Paroxysmal atrial tachycardia, Paroxysmal atrial fibrillation, Atrial flutter, Tricuspid regurgit...	OMIM:614022
Complete Atrioventricular Septal Defect	Wheezing, Elevated pulmonary artery pressure, Displacement of the papillary muscles, Cardiomegaly...	ORPHA:1329
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency	Respiratory insufficiency, Supraventricular tachycardia, Elevated circulating creatine kinase con...	OMIM:255100
Long Qt Syndrome 13	Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr...	OMIM:613485
Idiopathic Pulmonary Arterial Hypertension	Palpitations, Dyspnea, Elevated pulmonary artery pressure, Increased pulmonary vascular resistanc...	ORPHA:275766
Cardiomyopathy, Dilated, 2C	Pulmonary arterial hypertension, Reduced ejection fraction, Dilated cardiomyopathy	OMIM:618189
Pulmonary Hypertension, Primary, 1	Right ventricular failure, Dyspnea, Increased pulmonary vascular resistance, Hypertension, Right ...	OMIM:178600
Pituitary Adenoma 1, Multiple Types	Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Prolactinoma...	OMIM:102200
Combined Oxidative Phosphorylation Deficiency 33	Elevated hepatic transaminase, Hypothyroidism, Hepatomegaly, Cardiomegaly, Left ventricular hyper...	OMIM:617713
Cirrhosis, Familial	Hypertension, Jaundice, Increased level of propylene glycol in blood, Pulmonary arterial hyperten...	OMIM:215600
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress, Elevated circulating creatinine concentration, Flexion contracture, Hyperte...	OMIM:616733
Glomerulopathy With Fibronectin Deposits 1	Lobular glomerulopathy, Nephropathy, Glomerulopathy, Hypertension, Microscopic hematuria, Stage 5...	OMIM:137950
Classic Multiminicore Myopathy	Restrictive ventilatory defect, Right ventricular failure, Increased muscle lipid content, Congen...	ORPHA:324604
Cardiomyopathy, Familial Hypertrophic, 20	Atrial fibrillation, Left ventricular hypertrophy, Cardiomyopathy	OMIM:613876
Acute Peripheral Arterial Occlusion	Leukocytosis, Abnormal capillary physiology, Myocardial infarction, Supraventricular tachycardia,...	ORPHA:90064
Multiple Mitochondrial Dysfunctions Syndrome 1	Pulmonary arterial hypertension, Respiratory failure, Hypertension, Respiratory insufficiency	OMIM:605711
Coenzyme Q10 Deficiency, Primary, 5	Hyperalaninemia, Bradycardia, Left ventricular hypertrophy, Respiratory insufficiency	OMIM:614654
Cardiomyopathy, Familial Hypertrophic, 16	Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachycardia, Left bundle branch b...	OMIM:613838
Fabry Disease	Arrhythmia, Proteinuria, Angina pectoris, Urinary mulberry cells, Hypertension, Myocardial infarc...	OMIM:301500
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Arrhythmia, Abnormal heart valve morphology, Hypertension, Pulmonary embolism, Congestive heart f...	ORPHA:1345
Heparin-Induced Thrombocytopenia	Autoimmune thrombocytopenia, Increased serum serotonin, Myocardial infarction, Pulmonary embolism...	ORPHA:3325
Spastic Paraplegia-Nephritis-Deafness Syndrome	Hypertension, Nephropathy, Proteinuria	ORPHA:2820
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Arrhythmia, Ventricular septal defect, Hypertension, Respiratory insufficiency, Thrombocytopenia,...	OMIM:617021
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Ventricular septal defect, Hypertension, Biventricular hypertrophy, Decreas...	OMIM:615474
Atrial Standstill	Cardiac conduction abnormality, Muscular dystrophy, Sick sinus syndrome, Skeletal muscle atrophy,...	ORPHA:1344
Myofibrillar Myopathy 10	EMG: myopathic abnormalities, Flexion contracture of finger, Ankle flexion contracture, Increased...	OMIM:619040
Nail-Patella-Like Renal Disease	Hypertension, Glomerulopathy, Microscopic hematuria, Renal insufficiency, Proteinuria	ORPHA:2613
Maternally-Inherited Diabetes And Deafness	Arrhythmia, Proteinuria, Abnormal circulating lipid concentration, Hypertension, Glomerulopathy, ...	ORPHA:225
Agenesis Of The Corpus Callosum And Congenital Lymphedema	Pulmonary arterial hypertension, Right ventricular hypertrophy, Hypertension	OMIM:613623
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Respiratory distress, Muscular dystrophy, Centrally nucleated skeletal muscle fibers, Co...	ORPHA:86812
Iga Nephropathy, Susceptibility To, 2	Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri...	OMIM:613944
Hydroxykynureninuria	Hypotension, Renal tubular dysfunction, Tachycardia, Aminoaciduria	OMIM:236800
Takayasu Arteritis	Abnormal endocardium morphology, Abnormal heart valve morphology, Hypertensive crisis, Abnormal a...	ORPHA:3287
Coronary Artery Disease, Autosomal Dominant 2	Hypercholesterolemia, Hypertension, Sudden cardiac death, Hypertriglyceridemia, Myocardial infarc...	OMIM:610947
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Abnormal heart morphology, Atrial fibrillation, Atrioventricular block, Tac...	OMIM:614954
Incessant Infant Ventricular Tachycardia	Cardiac rhabdomyoma, Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, ...	ORPHA:45453
Renal Failure, Progressive, With Hypertension	Elevated circulating creatinine concentration, Hypertension, Microscopic hematuria, Stage 5 chron...	OMIM:161900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia, Hypertension	OMIM:166990
Iga Nephropathy, Susceptibility To, 3	Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Mesang...	OMIM:616818
Primary Membranoproliferative Glomerulonephritis	Glomerular subendothelial electron-dense deposits, Acute kidney injury, Hypertension, Microscopic...	ORPHA:54370
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Pulmonary arterial hypertension, Atrial septal defect, Hypertension, Bicuspid aortic valve	OMIM:613355
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Macroglossia, Facial hypotonia, Respiratory distress, Increased circulating lactate dehydrogenase...	ORPHA:308552
Familial Hyperaldosteronism Type Iii	Intracranial hemorrhage, Epistaxis, Hypertension, Glucocortocoid-insensitive primary hyperaldoste...	ORPHA:251274
Combined Oxidative Phosphorylation Defect Type 23	Severely reduced ejection fraction, Wolff-Parkinson-White syndrome, Congestive heart failure, Rig...	ORPHA:444013
Paragangliomas 6	Elevated circulating catecholamine level, Paraganglioma, Hypertension	OMIM:618464
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated hepatic transaminase, Hepatomegaly, Hyperalaninemia, Cardiomegaly, Hyperprolinemia, Pulm...	OMIM:619064
Focal Segmental Glomerulosclerosis 2	Focal segmental glomerulosclerosis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney ...	OMIM:603965
Atrial Septal Defect, Ostium Secundum Type	Exertional dyspnea, Atrial flutter, Abnormal left ventricular function, Pneumonia, Tricuspid regu...	ORPHA:99103
Combined Oxidative Phosphorylation Deficiency 22	Pulmonary arterial hypertension, Hyperalaninemia, Congestive heart failure	OMIM:616045
Lipoyltransferase 1 Deficiency	Increased total bilirubin, Elevated hepatic transaminase, Decreased liver function, Pulmonary art...	OMIM:616299
Cardiomyopathy, Familial Hypertrophic, 11	Arrhythmia, Hypertrophic cardiomyopathy	OMIM:612098
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Macroglossia, Left ventricular systolic dysfunction, Congenital muscular dystrophy, Muscular dyst...	OMIM:613156
Amyloidosis, Familial Visceral	Hematuria, Hypertension, Nephropathy, Hepatomegaly, Splenomegaly, Nephrotic syndrome, Proteinuria	OMIM:105200
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Palpitations, EMG: myopathic abnormalities, Arrhythmia, Ventricular hypertrophy, Decreased muscle...	ORPHA:263297
Preeclampsia	Acute kidney injury, Elevated systolic blood pressure, Elevated hepatic transaminase, Elevated ci...	ORPHA:275555
Atrial Septal Defect, Ostium Primum Type	Exertional dyspnea, Atrial flutter, Decreased pulmonary function, Tricuspid regurgitation, Right ...	ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 35	Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Hyperalani...	OMIM:619003
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Palpitations, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancreatic islet hyperplas...	ORPHA:276575
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities	Internally nucleated skeletal muscle fibers, Respiratory insufficiency, Type 1 muscle fiber predo...	OMIM:618654
Congenital Aortic Valve Stenosis	Aortic valve atresia, Reduced ejection fraction, Endocarditis, Abnormal pulse pressure, Exertiona...	ORPHA:3093
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypercholesterolemia, Ischemic stroke, Leukocytosis, Hypothyroidism, ST segment depression, Hyper...	ORPHA:90065
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Ventricular arrhythmia, Prolonged QRS complex, T-wave inversion, Ventricular tachycardia, Right v...	OMIM:611528
Glomerulopathy With Fibronectin Deposits 2	Hypertension, Glomerulopathy, Generalized distal tubular acidosis, Microscopic hematuria, Renal c...	OMIM:601894
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Palpitations, Prolonged QRS complex, Ventricular extrasystoles, Ventricular tachycardia, Sudden c...	OMIM:604400
Sick Sinus Syndrome 2	Aortic regurgitation, Sick sinus syndrome, Atrial fibrillation, Ventricular fibrillation, Sinus b...	OMIM:163800
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo...	OMIM:265450
Congenital Pulmonary Lymphangiectasia	Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Tricuspid regurgita...	ORPHA:2414
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Polyuria, Hyperuricemia, Hyponatremia, Renal salt wasting, Pulmonary arterial hypertension, Type ...	OMIM:613845
Erythrocytosis, Familial, 1	Increased hematocrit, Exertional dyspnea, Increased hemoglobin, Hypertension, Increased red blood...	OMIM:133100
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Palpitations, Maternal diabetes, Hyperinsulinemic hypoglycemia, Hyperinsulinemia, Diffuse pancrea...	ORPHA:276580
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Respiratory arrest, Dilated cardiomyopathy, Elevated hepatic transaminase, Increased circulating ...	OMIM:600649
Focal Segmental Glomerulosclerosis 5	Focal segmental glomerulosclerosis, Hypertension, Microscopic hematuria, Stage 5 chronic kidney d...	OMIM:613237
Hyperinsulinism Due To Ucp2 Deficiency	Palpitations, Hyperinsulinemic hypoglycemia, Diffuse pancreatic islet hyperplasia, Syncope, Hepat...	ORPHA:276556
Variegate Porphyria	Tachycardia, Porphyrinuria	OMIM:176200
Snakebite Envenomation	Cardiogenic shock, Acute kidney injury, Intracranial hemorrhage, Hypotension, Hyponatremia, Epist...	ORPHA:449285
Focal Segmental Glomerulosclerosis 3, Susceptibility To	Hematuria, Focal segmental glomerulosclerosis, Hypertension, Renal insufficiency, Proteinuria	OMIM:607832
Focal Segmental Glomerulosclerosis 1	Focal segmental glomerulosclerosis, Hypertension, Hypoalbuminemia, Stage 5 chronic kidney disease...	OMIM:603278
Apparent Mineralocorticoid Excess	Renal insufficiency, Hypertension, Abnormality of circulating cortisol level, Decreased circulati...	ORPHA:320
Pseudo-Torch Syndrome 3	Increased circulating ferritin concentration, Apnea, Acute kidney injury, Leukocytosis, Congenita...	OMIM:618886
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14	Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy...	OMIM:618920
Lcat Deficiency	Hematuria, Hemolytic anemia, Hypertension, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Rena...	ORPHA:650
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced ejection fraction, Scapular winging, Pollakisuria, Muscular edema, Lower limb muscle weak...	ORPHA:268
Congenital Fibrinogen Deficiency	Internal hemorrhage, Splenic rupture, Right ventricular hypertrophy, Tachycardia, Left ventricula...	ORPHA:335
Lipodystrophy, Familial Partial, Type 4	Hypertriglyceridemia, Skeletal muscle hypertrophy, Hypertension, Diabetes mellitus	OMIM:613877
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril...	OMIM:616117
Brugada Syndrome	Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard...	ORPHA:130
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve leaflet morphology, Anomalous pulmonary venous return, Pericardial effus...	ORPHA:555874
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Ventricular septal defect, Intracranial hemorrhage, Epistaxis, Hypertens...	ORPHA:369929
Gaucher Disease, Type I	Dyspnea, Epistaxis, Hypertension, Hepatomegaly, Pancytopenia, Aortic valve stenosis, Thrombocytop...	OMIM:230800
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Vacuolated lymphocytes, Leukopenia, Anemia, Pulmonary arterial hypertension...	OMIM:278000
Liddle Syndrome	Arrhythmia, Hypertension, Nephropathy, Hypokalemia, Cerebral ischemia, Renal insufficiency	ORPHA:526
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4	Syncope, Cardiac arrest, Ventricular tachycardia	OMIM:614916
Iga Nephropathy, Susceptibility To, 1	Hematuria, Hypertension, Stage 5 chronic kidney disease, IgA deposition in the glomerulus, Nephri...	OMIM:161950
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Atrial septal defect, Neutropenia, Decreased methionine synthase activity, Thrombocytopenia, Meth...	OMIM:614857
Myopathy, X-Linked, With Postural Muscle Atrophy	Arrhythmia, Scapular winging, Flexion contracture, Respiratory insufficiency, Rimmed vacuoles, El...	OMIM:300696
Hyperinsulinism Due To Hnf1A Deficiency	Palpitations, Maturity-onset diabetes of the young, Maternal diabetes, Hyperinsulinemic hypoglyce...	ORPHA:324575
Carnitine-Acylcarnitine Translocase Deficiency	Ventricular hypertrophy, Elevated hepatic transaminase, Cardiorespiratory arrest, Hypotension, Ve...	OMIM:212138
Morbid Obesity And Spermatogenic Failure	Hypercholesterolemia, Hypertension, Hypertriglyceridemia, Myocardial infarction, Congestive heart...	OMIM:615703
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Exertional dyspnea, Autoimmune hemolytic anemi...	ORPHA:90037
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy	EMG: myopathic abnormalities, Hand muscle weakness, Increased endomysial connective tissue, Abnor...	ORPHA:437572
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy	Atrial standstill, Abnormal left ventricular function, Atrial fibrillation, Ventricular tachycard...	OMIM:604772
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency	Atrial septal defect, Ventricular septal defect, Unilateral renal agenesis, Hypertension, Pulmona...	OMIM:608406
Fibronectin Glomerulopathy	Hypertension, Glomerulopathy, Abnormal glomerular mesangium morphology, Microscopic hematuria, Ce...	ORPHA:84090
Linear Skin Defects With Multiple Congenital Anomalies 2	Pulmonary arterial hypertension, Tetralogy of Fallot, Ventricular hypertrophy, Atrial septal defect	OMIM:300887
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency	Increased muscle glycogen content, Acute kidney injury, Exertional dyspnea, Dark urine, Recurrent...	ORPHA:368
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Restrictive ventilatory defect, Muscular dystrophy, Flexion contracture, Pneumonia, Right ventric...	OMIM:253700
Atrial Septal Defect, Coronary Sinus Type	Palpitations, Anomalous pulmonary venous return, Arrhythmia, Bundle branch block, Right ventricul...	ORPHA:99104
Beta-Thalassemia Intermedia	Persistence of hemoglobin F, Jaundice, Decreased liver function, High-output congestive heart fai...	ORPHA:231222
Cardiomyopathy, Dilated, 1O	Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia	OMIM:608569
Cardiomyopathy, Dilated, 1G	Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc...	OMIM:604145
Idiopathic Neonatal Atrial Flutter	Reduced ejection fraction, Arrhythmia, Maternal diabetes, Respiratory distress, Paroxysmal suprav...	ORPHA:45452
Relapsing Fever	Increased total bilirubin, Hematuria, Acute kidney injury, Elevated hepatic transaminase, Hypoten...	ORPHA:91547
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormal mitral valve morphology, Hypertension, Nephropathy, Type I diabetes mellitus, Anemia, Ne...	ORPHA:1192
Synaptic Congenital Myasthenic Syndromes	Hand muscle weakness, Scapular winging, Sleep apnea, Respiratory distress, Exertional dyspnea, Hy...	ORPHA:98915
Catecholaminergic Polymorphic Ventricular Tachycardia	Sudden cardiac death, Syncope, Ventricular tachycardia	ORPHA:3286
Cardiomyopathy, Dilated, 1E	Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra...	OMIM:601154
Phosphoribosylpyrophosphate Synthetase Superactivity	Arrhythmia, Hyperuricemia, Hypertension, Renal insufficiency, Cardiomyopathy	ORPHA:3222
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Elevated circulating dodecanoylcarnitine concentration, Hyperglutaminemia, Elevated hepatic trans...	OMIM:619355
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary arterial hypertension, Cough, Dyspnea, Decreased DLCO	OMIM:234810
Combined Oxidative Phosphorylation Deficiency 30	Elevated hepatic transaminase, Hyperalaninemia, Decreased liver function, Left ventricular hypert...	OMIM:616974
Antithrombin Iii Deficiency	Pulmonary embolism, Arterial occlusion	OMIM:613118
Pheochromocytoma--Islet Cell Tumor Syndrome	Elevated urinary norepinephrine, Positive regitine blocking test, Pheochromocytoma, Episodic hype...	OMIM:171420
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant	Arrhythmia, Dilated cardiomyopathy, Restricted neck movement due to contractures, Scapular wingin...	OMIM:181350
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Atrial fibrillation, Prolonged PR inter...	OMIM:108900
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Atrial septal defect, Contractures of the interphalangeal joint of the thumb, Ventricular septal ...	OMIM:613870
Aorta Coarctation	Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Hypertension, Perimembr...	ORPHA:1457
Melorheostosis With Osteopoikilosis	Hypertension	ORPHA:1879
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Dyspnea, Right bundle branch block, Pericardial effusion, Left bundle br...	OMIM:115197
Paroxysmal Extreme Pain Disorder	Tachycardia, Rhinorrhea, Bradycardia	OMIM:167400
Aapoaiv Amyloidosis	Cardiac amyloidosis, Cardiac conduction abnormality, Elevated circulating creatinine concentratio...	ORPHA:439232
Tangier Disease	Facial diplegia, Hepatomegaly, Myocardial infarction, Distal amyotrophy, Left ventricular hypertr...	OMIM:205400
Lessel-Kubisch Syndrome	Renal hypoplasia, Renal insufficiency, Hypogonadism, Hypertension	OMIM:618681
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2	Syncope, Bradycardia, Ventricular tachycardia	OMIM:611938
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Tricuspid regurgitation, Hyperalaninemia, Cardiomegaly, Pulmonary arteri...	OMIM:619051
Idiopathic Non-Lupus Full-House Nephropathy	Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Abnormal glomer...	ORPHA:567544
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Elevated hepatic transaminase...	OMIM:613404
Scapuloperoneal Myopathy, X-Linked Dominant	Arrhythmia, Scapuloperoneal myopathy, Scapular winging, Flexion contracture, Lower limb muscle we...	OMIM:300695
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Interstitial pneumonitis, Neonatal respiratory distress, Chronic lung disease, Right ventricular ...	ORPHA:217563
Atrioventricular Septal Defect 3	Inlet ventricular septal defect, Midsystolic murmur, Atrioventricular canal defect, Hypertension,...	OMIM:600309
Malignant Hyperthermia, Susceptibility To, 1	Hypotension, Rhabdomyolysis, Tachycardia, Myoglobinuria, Elevated circulating creatine kinase con...	OMIM:145600
Pulmonary Arteriovenous Malformation	Iron deficiency anemia, Pulmonary hemorrhage, Palpitations, Ischemic stroke, Dyspnea, Bacterial e...	ORPHA:2038
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia, Arrhythmia, Chronic hepatic failure, Lower limb muscle weakness, Tricuspid regurgit...	ORPHA:746
Hyperaldosteronism, Familial, Type Ii	Hypertension	OMIM:605635
Cardiomyopathy, Familial Hypertrophic, 12	Paroxysmal atrial fibrillation, Sudden cardiac death, Cardiomyopathy, Ventricular tachycardia	OMIM:612124
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Tachypnea, Cardiomegaly, Hypertension	OMIM:613320
Attrv30M Amyloidosis	Abnormal renal physiology, Arrhythmia, Nephropathy, Atrioventricular block, Cardiomegaly, Cardiom...	ORPHA:85447
Autoimmune Hemolytic Anemia, Warm Type	Abnormal urinary color, Exertional dyspnea, Autoimmune hemolytic anemia, Chronic lymphatic leukem...	ORPHA:90033
Paragangliomas 3	Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren...	OMIM:605373
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Contractures of the large joints, Atrial flutter, Congestive heart failure, Cardiomegaly	OMIM:300886
Cystic Hamartoma Of Lung And Kidney	Respiratory insufficiency, Hypertension, Multicystic kidney dysplasia	ORPHA:2111
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Congestive heart failure, Ventricular tachycardia	OMIM:605676
Adenine Phosphoribosyltransferase Deficiency	Dysuria, Acute kidney injury, Urinary hesitancy, Uric acid nephrolithiasis, Recurrent urinary tra...	ORPHA:976
Congenital Tricuspid Stenosis	Hypotension, Tricuspid regurgitation, Tricuspid stenosis, Heart murmur, Congestive heart failure,...	ORPHA:95459
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Abnormal left ventricular function, Lower limb hypertonia, Skeletal...	ORPHA:3208
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Pericardial effusion, Abn...	ORPHA:300751
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Ventricular fibrillatio...	OMIM:607450
Hemorrhagic Fever-Renal Syndrome	Abnormal renal tubule morphology, Hypoproteinemia, Arrhythmia, Elevated hepatic transaminase, Gas...	ORPHA:340
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Syncope, Prolonged QT interval, Ventricular tachycardia	OMIM:614021
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Atrial septal defect, Arthrogryposis multiplex congenita, Elevated hepatic transaminase, Giant ce...	OMIM:208085
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Pulmonary arterial hypertens...	ORPHA:1164
Familial Partial Lipodystrophy, Köbberling Type	Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Hypertension	ORPHA:79084
Paragangliomas 1	Palpitations, Extraadrenal pheochromocytoma, Vagal paraganglioma, Hypertension associated with ph...	OMIM:168000
Potocki-Shaffer Syndrome	Hypothyroidism, Hypertension, Delayed puberty, Nephroblastoma, Anemia, Micropenis	ORPHA:52022
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Ventricular extrasystoles, Ventricular tachycardia, Cardiac arrest, Shock, Polymorphic ventricula...	OMIM:615441
Hypertension And Brachydactyly Syndrome	Hypertension	OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome	Hypertension	ORPHA:1276
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Hypertension, Hypertriglyceridemia, Abnormal circulating hormone concentration,...	ORPHA:280356
Hereditary Coproporphyria	Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Nephropathy, Respiratory in...	ORPHA:79273
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Lacticaciduria, Patent foramen ovale, Left ventricular systolic dysfunction, Mitral regurgitation...	OMIM:619167
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Sudden cardiac death, Right ven...	OMIM:610193
Familial Cervical Artery Dissection	Recurrent cerebral hemorrhage, Subarachnoid hemorrhage, Hypertension, Facial palsy, Cerebral isch...	ORPHA:36382
Sickle Cell Anemia	Hematuria, Hemolytic anemia, Leukocytosis, Hypertension, Hepatomegaly, Jaundice, Increased red ce...	OMIM:603903
Nestor-Guillermo Progeria Syndrome	Sinus tachycardia, Flexion contracture, Hypertension, Pulmonary arterial hypertension, Right bund...	OMIM:614008
Arterial Calcification, Generalized, Of Infancy, 2	Hypophosphatemic rickets, Hypertension, Myocardial infarction, Congestive heart failure, Nephroca...	OMIM:614473
Congenital Disorder Of Glycosylation, Type It	Dilated cardiomyopathy, Elevated hepatic transaminase, Dyspnea, Intrahepatic cholestasis, Rhabdom...	OMIM:614921
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Palpitations, Goiter, Rhabdomyolysis, Hypokalemia, Tachycardia, Hyperthyroidism	OMIM:188580
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Raynaud phenomenon, Hypertension	ORPHA:401945
Muscular Dystrophy, Becker Type	Arrhythmia, Muscular dystrophy, Cardiomyopathy, Calf muscle pseudohypertrophy, Elevated circulati...	OMIM:300376
Porphyria Variegata	Neurogenic bladder, Elevated hepatic transaminase, Elevated urinary delta-aminolevulinic acid, Hy...	ORPHA:79473
Carnitine-Acylcarnitine Translocase Deficiency	Decreased plasma carnitine, Arrhythmia, Elevated hepatic transaminase, Sudden episodic apnea, Hyp...	ORPHA:159
Obesity Due To Melanocortin 4 Receptor Deficiency	Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Type II diabetes mellitus	ORPHA:71529
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hypocalcemia, Pericardial effusion, Pneumonia, Jaundice, Patent foramen ovale, Elevated circulati...	ORPHA:26793
Fabry Disease	Conjunctival telangiectasia, Hematuria, Abnormal endocardium morphology, Abnormal circulating lip...	ORPHA:324
Tako-Tsubo Cardiomyopathy	Ventricular arrhythmia, Mildly elevated creatine kinase, Prolonged QTc interval, Syncope, Cardiog...	ORPHA:66529
Catastrophic Antiphospholipid Syndrome	Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Angina pectoris, Abnormal he...	ORPHA:464343
Cardiomyopathy, Dilated, 1Y	Dilated cardiomyopathy, Mitral regurgitation, Congestive heart failure, Ventricular tachycardia	OMIM:611878
Ethanolaminosis	Cardiomegaly	OMIM:227150
Pulmonary Fibrosis, Idiopathic	Dyspnea, Exertional dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension	OMIM:178500
Chronic Thromboembolic Pulmonary Hypertension	Exertional dyspnea, Abnormal left ventricular function, Pulmonary embolism, Abnormal T-wave, Righ...	ORPHA:70591
Rhabdoid Tumor	Renal neoplasm, Hematuria, Internal hemorrhage, Hypertension, Respiratory insufficiency, Thromboc...	ORPHA:69077
Meconium Aspiration Syndrome	Wheezing, Maternal diabetes, Respiratory distress, Pulmonary insufficiency, Abnormal heart rate v...	ORPHA:70588
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Erythroid hypoplasia, Monocytosis, Atrial septal defect, Lymphopenia, Neutropenia, Cor triatriatu...	OMIM:612541
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Arrhythmia, Decreased plasma total carnitine, Elevated hepatic transaminase, Exertional dyspnea, ...	ORPHA:42
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Pulmonary embolism	OMIM:176860
Ventricular Fibrillation, Paroxysmal Familial, 1	Ventricular fibrillation, Tachycardia, Syncope	OMIM:603829
Adams-Oliver Syndrome 5	Patent foramen ovale, Pulmonic stenosis, Right atrial enlargement, Right ventricular hypertrophy,...	OMIM:616028
Polycythemia Vera	Thrombocytosis, Increased hematocrit, Gastrointestinal hemorrhage, Leukocytosis, Budd-Chiari synd...	OMIM:263300
Meckel Syndrome, Type 7	Atrial septal defect, Situs inversus totalis, Multicystic kidney dysplasia, Aortic valve stenosis...	OMIM:267010
Pituitary Gigantism	Pituitary growth hormone cell adenoma, Increased serum insulin-like growth factor 1, Elevated cir...	ORPHA:99725
Nephronophthisis 2	Nephronophthisis, Situs inversus totalis, Enlarged kidney, Pulmonary insufficiency, Elevated circ...	OMIM:602088
Left Ventricular Noncompaction 8	Arrhythmia, Abnormal left ventricular function, Congestive heart failure, Abnormal left ventricle...	OMIM:615373
Lymphedema And Cerebral Arteriovenous Anomaly	Pulmonary arterial hypertension	OMIM:152900
Malignant Hyperthermia Of Anesthesia	Acute kidney injury, Abnormality of masseter muscle, Hypercapnia, Ventricular extrasystoles, Acut...	ORPHA:423
Infant Acute Respiratory Distress Syndrome	Hypotension, Pneumonia, Atelectasis, Tachycardia, Cardiac arrest, Respiratory failure, Nasal flar...	ORPHA:70587
Paroxysmal Nocturnal Hemoglobinuria	Abnormal renal physiology, Hemolytic anemia, Angina pectoris, Hemoglobinuria, Pancytopenia, Pulmo...	ORPHA:447
Atrial Fibrillation, Familial, 1	Tachycardia, Atrial fibrillation	OMIM:608583
Atrial Fibrillation, Familial, 3	Tachycardia, Atrial fibrillation	OMIM:607554
Car T Cell Therapy-Associated Cytokine Release Syndrome	Reduced ejection fraction, Arrhythmia, Acute kidney injury, Elevated hepatic transaminase, Hypote...	ORPHA:542323
Eisenmenger Syndrome	Ventricular arrhythmia, Wheezing, Exertional dyspnea, Hyperuricemia, Tricuspid regurgitation, Ele...	ORPHA:97214
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Respiratory insufficiency, Elevated circulat...	OMIM:612999
Familial Atrial Myxoma	Exertional dyspnea, Cardiac myxoma, Tricuspid regurgitation, Jaundice, Heart murmur, Congestive h...	ORPHA:615
Glycogen Storage Disease Due To Acid Maltase Deficiency	EMG: myopathic abnormalities, Sleep apnea, Facial hypotonia, Exertional dyspnea, Lower limb muscl...	ORPHA:365
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Abnormal heart morphology, Hypothyroidism, Flexion contracture, Decreased serum iron, Pulmonary a...	ORPHA:391372
Muscular Dystrophy, Progressive Pectorodorsal	Arrhythmia, Scapular winging, Muscular dystrophy, Shoulder girdle muscle weakness, Elevated circu...	OMIM:310095
Neuroleptic Malignant Syndrome	Hypocalcemia, Acute kidney injury, Hypernatremia, Hyperuricemia, Pulmonary embolism, Elevated cir...	ORPHA:94093
Sneddon Syndrome	Cerebral hemorrhage, Ischemic stroke, Facial palsy, Hypertension	OMIM:182410
Hyperthyroidism, Familial Gestational	Increased circulating T4 level, Tachycardia, Decreased thyroid-stimulating hormone level, Hyperth...	OMIM:603373
Acquired Methemoglobinemia	Palpitations, Arrhythmia, Dyspnea, Respiratory distress, Tachycardia, Methemoglobinemia, Hypoxemi...	ORPHA:464453
Grange Syndrome	Hypertension, Aortic regurgitation, Ventricular septal defect	ORPHA:79094
Danon Disease	EMG: myopathic abnormalities, Arrhythmia, Dilated cardiomyopathy, Myocardial fibrosis, Myocardial...	OMIM:300257
Stiff-Person Syndrome	Proximal limb muscle stiffness, Hypertension, Tachycardia, Anemia, Diabetes mellitus, Axial muscl...	OMIM:184850
C3 Glomerulopathy	Hematuria, Acute kidney injury, Elevated circulating creatinine concentration, Hypertension, Memb...	ORPHA:329918
Coenzyme Q10 Deficiency, Primary, 2	Pulmonary arterial hypertension, Mitral regurgitation, Aortic regurgitation	OMIM:614651
Senior-Loken Syndrome	Nephronophthisis, Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease	ORPHA:3156
Denys-Drash Syndrome	Hypertension, Nephropathy, Nephroblastoma, Nephrotic syndrome, Proteinuria	ORPHA:220
Thiamine-Responsive Megaloblastic Anemia Syndrome	Paroxysmal atrial tachycardia, Atrial septal defect, Ventricular septal defect, Megaloblastic ane...	ORPHA:49827
Paget Disease Of Bone 6	Elevated circulating alkaline phosphatase concentration, Nephrocalcinosis, Left ventricular hyper...	OMIM:616833
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Hypertension, Nephropathy, Proteinuria	OMIM:166300
Limited Cutaneous Systemic Sclerosis	Telangiectasia of the skin, Contractures involving the joints of the feet, Mucosal telangiectasia...	ORPHA:220402
Diffuse Cutaneous Systemic Sclerosis	Dyspnea, Flexion contracture, Hypertensive crisis, Telangiectasia of the skin, Oliguria, Congesti...	ORPHA:220393
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Telangiectases producing 'marbled' skin, Hypertension	OMIM:206570
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,...	OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,...	OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Microangiopathic hemolytic anemia, Hematuria, Increased blood urea nitrogen, Acute kidney injury,...	OMIM:612926
Sarcoidosis, Susceptibility To, 2	Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pleural effusion, Emphysema, Hepatomegal...	OMIM:612387
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Elevated circulating creatinine concentration, Recurrent urinary tract in...	OMIM:613095
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Dyspnea, Increased serum pyruvate, Hypertension, Congestive heart failure, Dilated cardiomyopathy...	ORPHA:1349
Schimke Immuno-Osseous Dysplasia	Abnormal proportion of naive CD4 T cells, Decreased proportion of naive CD8 T cells, Neutropenia,...	ORPHA:1830
Hereditary Pulmonary Alveolar Proteinosis	Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist...	ORPHA:264675
Hemochromatosis, Type 1	Increased circulating ferritin concentration, Arrhythmia, Elevated hepatic transaminase, Pleural ...	OMIM:235200
Carnitine Deficiency, Systemic Primary	Decreased plasma carnitine, Elevated hepatic transaminase, Reduced muscle carnitine level, Endoca...	OMIM:212140
Heart-Hand Syndrome, Slovenian Type	Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab...	ORPHA:168796
Myopathy, Myofibrillar, 1	EMG: myopathic abnormalities, Restrictive cardiomyopathy, Respiratory insufficiency due to muscle...	OMIM:601419
Hyperinsulinism Due To Hnf4A Deficiency	Hyperinsulinemic hypoglycemia, Elevated hepatic transaminase, Hyperinsulinemia, Hypophosphatemic ...	ORPHA:263455
Cardiomyopathy, Familial Hypertrophic, 1	Asymmetric septal hypertrophy, Arrhythmia, Congestive heart failure, Subvalvular aortic stenosis	OMIM:192600
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Carnitine Palmitoyltransferase I Deficiency	Arrhythmia, Elevated hepatic transaminase, Renal tubular acidosis, Hepatomegaly, Cardiomegaly, El...	OMIM:255120
Myotonic Dystrophy 2	Palpitations, Hypogonadism, Type 2 muscle fiber atrophy, Tachycardia, Elevated circulating creati...	OMIM:602668
Lipodystrophy, Familial Partial, Type 1	Hepatomegaly, Hypertriglyceridemia, Insulin-resistant diabetes mellitus, Hypertension	OMIM:608600
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Hyperinsulinemic hypoglycemia, Tachycardia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia	ORPHA:276608
Mercury Poisoning	Dyspnea, Acute kidney injury, Respiratory distress, Interstitial pneumonitis, Hypotension, Hypert...	ORPHA:330021
Pulmonary Hypertension, Primary, 4	Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Arrhythmia, Elevated pu...	OMIM:615344
Noonan Syndrome 8	Atrial septal defect, Ventricular septal defect, Pleural effusion, Pulmonic stenosis, Left ventri...	OMIM:615355
Alagille Syndrome 2	Atrial septal defect, Hematuria, Renal hypoplasia, Hypertension, Renal tubular acidosis, Pulmonic...	OMIM:610205
Naxos Disease	Arrhythmia, Sudden cardiac death, Congestive heart failure, Paroxysmal ventricular tachycardia, C...	ORPHA:34217
Naxos Disease	Ventricular arrhythmia, Palpitations, Prolonged QRS complex, T-wave inversion, Ventricular extras...	OMIM:601214
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Prolonged PR interval, Hypertension	OMIM:615378
Tetanus	Respiratory distress, Elevated urinary norepinephrine, Elevated urinary epinephrine, Hypertension...	ORPHA:3299
Hurler-Scheie Syndrome	Aortic regurgitation, Hepatomegaly, Splenomegaly, Pulmonary arterial hypertension, Mitral regurgi...	OMIM:607015
Polyarteritis Nodosa	Pericarditis, Raynaud phenomenon, Hypertension, Elevated circulating C-reactive protein concentra...	ORPHA:767
Brugada Syndrome 1	Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria...	OMIM:601144
Cocaine Intoxication	Ventricular arrhythmia, Wheezing, Hematuria, Acute kidney injury, Cough, Cerebral hemorrhage, Ele...	ORPHA:90068
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tricuspid regurgitation, Hypoalbuminemia, Leukopenia, Anemia, Patent foramen ovale, Pulmonary art...	ORPHA:505248
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy	OMIM:614458
Refsum Disease, Classic	Abnormal renal physiology, Arrhythmia, Elevated levels of phytanic acid, Congestive heart failure...	OMIM:266500
Timothy Syndrome	Hypocalcemia, Ventricular septal defect, Hypothyroidism, Pneumonia, Cardiomegaly, Prolonged QT in...	OMIM:601005
Sepsis In Premature Infants	Abnormal mucociliary clearance, Dyspnea, Hypotension, Leukocytosis, Decreased pulmonary function,...	ORPHA:90051
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Raynaud phenomenon, Hypertension	OMIM:615750
Double Outlet Right Ventricle	Hypocalcemia, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Pu...	ORPHA:3426
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Hypertension, Renal salt wasting, Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Nephropathy	ORPHA:820
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Mitral valve prolapse, Hypertension, Polycystic kidney dysplasia, Renal insufficiency, Mitral reg...	OMIM:173900
Pheochromocytoma	Elevated urinary norepinephrine, Positive regitine blocking test, Pheochromocytoma, Episodic hype...	OMIM:171300
Atrial Septal Defect 9	Pulmonary arterial hypertension, Secundum atrial septal defect	OMIM:614475
Liddle Syndrome 3	Hypokalemia, Hypertension	OMIM:618126
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Ischemic stroke, Hypergonadotropic hypogonadism, Hypertension, Delayed puberty, Cerebral hemorrha...	ORPHA:280679
Polycythemia Vera	Gastrointestinal hemorrhage, Intermittent claudication, Angina pectoris, Budd-Chiari syndrome, Ep...	ORPHA:729
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Abnormal heart morphology, Episodic tachypnea, Tachycardia, Aspiration pneumonia, Abnormal...	ORPHA:79264
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Hematuria, Gastrointestinal hemorrhage, Microcytic anemia, Subarachn...	ORPHA:774
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Tubulointerstitial fibrosis, Hypophosphatemic rickets, Emphysema, Aminoaciduria...	OMIM:618913
Hydroxykynureninuria	Hypotension, Renal tubular acidosis, Tachycardia, Breathing dysregulation, Abnormal circulating t...	ORPHA:79155
Inflammatory Skin And Bowel Disease, Neonatal, 2	Hypertension, Recurrent pneumonia	OMIM:616069
Glycogen Storage Disease Of Heart, Lethal Congenital	Macroglossia, Hypotension, Biventricular hypertrophy, Congestive heart failure, Shortened PR inte...	OMIM:261740
Riboflavin Transporter Deficiency	Sleep apnea, Hypertension, Respiratory insufficiency, Facial palsy, Skeletal muscle atrophy, Diab...	ORPHA:97229
Infantile Sialic Acid Storage Disease	Vacuolated lymphocytes, Conjugated hyperbilirubinemia, Hepatomegaly, Nephrotic syndrome, Congesti...	OMIM:269920
Tropical Endomyocardial Fibrosis	Atrial flutter, P pulmonale, Tricuspid regurgitation, Abnormal T-wave, Hypoalbuminemia, Cardiomeg...	ORPHA:75565
Non-Functioning Paraganglioma	Palpitations, Elevated urinary dopamine, Hematuria, Hypertension associated with pheochromocytoma...	ORPHA:94080
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Nonspherocytic hemolytic...	ORPHA:3202
Acute Intermittent Porphyria	Dysuria, Dark urine, Hyponatremia, Elevated urinary delta-aminolevulinic acid, Hypertension, Resp...	ORPHA:79276
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia	Arrhythmia, Sick sinus syndrome, Bradycardia	OMIM:617182
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Vacuolated lymphocytes, Abnormal urine potassium concentration, Jaundice, D...	ORPHA:275761
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Compensated hypothyroidism, Punctate vasculitis skin lesions, Gastrointestinal hemorrhage, Elevat...	ORPHA:247691
Systemic Mastocytosis With Associated Hematologic Neoplasm	Myeloid leukemia, Elevated total serum tryptase, Hypotension, Leukocytosis, Chronic lymphatic leu...	ORPHA:98849
Gaucher Disease Type 1	Hematuria, Pericardial effusion, Hepatomegaly, Pancytopenia, Thrombocytopenia, Delayed puberty, L...	ORPHA:77259
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Palpitations, Goiter, Hypokalemia, Tachycardia, Hyperthyroidism	OMIM:613239
Chronic Atrial And Intestinal Dysrhythmia	Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Bicuspid aortic valv...	OMIM:616201
Cardiomyopathy, Dilated, 1P	Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function	OMIM:609909
Hyperaldosteronism, Familial, Type I	Abnormality of the urinary system, Hyperaldosteronism, Hypertension, Decreased circulating renin ...	OMIM:103900
Methanol Poisoning	Intracranial hemorrhage, Inflammatory arteriopathy, Hypertension, Permanent atrial fibrillation, ...	ORPHA:31825
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Arrhythmia, Proximal amyotrophy, Muscular dystrophy, Atrial fibrillation, Bradycardia	OMIM:614302
Braddock Syndrome	Pulmonary arterial hypertension, Neonatal respiratory distress, Congenital muscular torticollis, ...	ORPHA:52047
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Ventricular extrasystoles, Tachycardia, Syncope	OMIM:192445
Familial Thrombocytosis	Thrombocytosis, Chronic myelogenous leukemia, Acute myeloid leukemia, Cerebral ischemia, Splenome...	ORPHA:71493
Antisynthetase Syndrome	Aortic regurgitation, Cough, Pulmonary arterial hypertension, Respiratory insufficiency, Telangie...	ORPHA:81
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Dilated cardiomyopathy, Tachycardia, Syncope	OMIM:615821
Coenzyme Q10 Deficiency, Primary, 7	Respiratory insufficiency, Bradycardia, Hypoplastic left heart, Hypertrophic cardiomyopathy	OMIM:616276
Wolff-Parkinson-White Syndrome	Palpitations, Prolonged QRS complex, Paroxysmal supraventricular tachycardia, Wolff-Parkinson-Whi...	OMIM:194200
Lipodystrophy, Congenital Generalized, Type 4	Elevated hepatic transaminase, Hyperinsulinemia, Skeletal muscle hypertrophy, Muscular dystrophy,...	OMIM:613327
Coach Syndrome 2	Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypertension, Apnei...	OMIM:619111
Arterial Calcification, Generalized, Of Infancy, 1	Myocardial infarction, Hypophosphatemic rickets, Congestive heart failure, Hypertension	OMIM:208000
Frasier Syndrome	Increased circulating gonadotropin level, Focal segmental glomerulosclerosis, Hypergonadotropic h...	ORPHA:347
Pediatric-Onset Graves Disease	Palpitations, Puberty and gonadal disorders, Graves disease, Increased circulating T4 level, Elev...	ORPHA:525731
Total Anomalous Pulmonary Venous Return 1	Pulmonary arterial hypertension, Total anomalous pulmonary venous return	OMIM:106700
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy	Decreased circulating renin level, Decreased circulating aldosterone level, Hypertension	OMIM:605115
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension, Hyperalaninemia, Hyperglycinemia	OMIM:619059
Serotonin Syndrome	Acute kidney injury, Hypotension, Rhabdomyolysis, Hypertension, Tachycardia, Hepatic failure, Tac...	ORPHA:43116
Congenitally Corrected Transposition Of The Great Arteries	Premature atrial contractions, Cardiac conduction abnormality, Single ventricle, Supraventricular...	ORPHA:216694
Carney Triad	Arrhythmia, Adrenocortical adenoma, Gastrointestinal hemorrhage, Pheochromocytoma, Hypertension, ...	ORPHA:139411
Wild Type Attr Amyloidosis	Arrhythmia, Orthostatic hypotension due to autonomic dysfunction, Pleural effusion, Nephropathy, ...	ORPHA:330001
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Skeletal muscle atrophy, Pulmonary arterial hypertension, Hypospadias, Brad...	OMIM:619272
Ethylene Glycol Poisoning	Hypocalcemia, Episodic respiratory distress, Hematuria, Renal tubular dysfunction, Tachypnea, Hyp...	ORPHA:31826
Corticosteroid-Binding Globulin Deficiency	Hypotension, Hypertension	OMIM:611489
Xfe Progeroid Syndrome	Renal insufficiency, Elevated hepatic transaminase, Hypertension, Proteinuria	OMIM:610965
Cardiomyopathy, Familial Hypertrophic 27	Mitral regurgitation, Prolonged QT interval, Tricuspid regurgitation, Cardiomegaly	OMIM:618052
Microcephaly-Capillary Malformation Syndrome	Atrial septal defect, Ventricular septal defect, Vesicoureteral reflux, Right ventricular hypertr...	OMIM:614261
Nephronophthisis 1	Nephronophthisis, Hyposthenuria, Tubulointerstitial fibrosis, Polyuria, Hypertension, Renal tubul...	OMIM:256100
Glycogen Storage Disease Ic	Spider hemangioma, Hematuria, Focal segmental glomerulosclerosis, Hyperuricemia, Hypertension, De...	OMIM:232240
Sudden Cardiac Failure, Infantile	Myocardial fibrosis, Congestive heart failure, Myocarditis, Bradycardia, Hypertrophic cardiomyopathy	OMIM:617222
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin, Abnormal urinary color, Exertional dyspnea, Autoimmune hemolytic anemi...	ORPHA:90036
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Arrhythmia, Hematuria, Acute kidney injury, Dyspnea, Reticuloc...	ORPHA:54057
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Elevated hepatic transaminase, Respiratory distress, Episodic tachypnea, Hyperuricemia, ...	ORPHA:348
Multiple Endocrine Neoplasia, Type Iia	Palpitations, Elevated urinary dopamine, Increased circulating cortisol level, Elevated urinary n...	OMIM:171400
Ventricular Tachycardia, Familial	Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia	OMIM:192605
Primary Lipodystrophy	Angina pectoris, Skeletal muscle hypertrophy, Hypertension, Congestive heart failure, Type II dia...	ORPHA:90970
Propionic Acidemia	Propionyl-CoA carboxylase deficiency, Arrhythmia, Hepatomegaly, Organic aciduria, Hyperammonemia,...	ORPHA:35
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperinsulinemia, Hypertension, Hepatomegaly, Hypertriglyceridemia, Respiratory failure, Myopathy	ORPHA:363400
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Elevated circulating creatinine concentration, Recurrent urinary tract infections, ...	ORPHA:36234
Fructose-1,6-Bisphosphatase Deficiency	Apnea, Dyspnea, Hepatomegaly, Tachycardia, Increased urinary glycerol, Hyperventilation	OMIM:229700
Pseudohypoaldosteronism, Type Iia	Hyperkalemia, Hypertension, Pseudohypoaldosteronism	OMIM:145260
Glycogen Storage Disease Due To Aldolase A Deficiency	EMG: myopathic abnormalities, Arrhythmia, Decreased muscle mass, Acute kidney injury, Hemolytic a...	ORPHA:57
Bardet-Biedl Syndrome 1	Nephrogenic diabetes insipidus, Hypertension, Left ventricular hypertrophy, Asthma, Hypogonadism,...	OMIM:209900
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Intermittent claudication, Renovascular hypertension, Angina pectori...	OMIM:264800
Autosomal Dominant Progressive External Ophthalmoplegia	Ventricular arrhythmia, EMG: myopathic abnormalities, Hypomimic face, Exertional dyspnea, Nocturi...	ORPHA:254892
Atrial Fibrillation, Familial, 18	Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation	OMIM:617280
Intellectual Developmental Disorder With Cardiac Arrhythmia	Arrhythmia, Sick sinus syndrome, Bradycardia	OMIM:617173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertro...	OMIM:613153
Histiocytoid Cardiomyopathy	Tachypnea, Ventricular septal defect, Wolff-Parkinson-White syndrome, Atrial flutter, Cough, Atri...	ORPHA:137675
Long Qt Syndrome 16	T-wave alternans, Perimembranous ventricular septal defect, Second degree atrioventricular block,...	OMIM:618782
Congenital Disorder Of Glycosylation, Type Iig	Camptodactyly, Thrombocytopenia, Hydronephrosis, Left ventricular hypertrophy, Anemia, Hypospadia...	OMIM:611209
Pparg-Related Familial Partial Lipodystrophy	Maternal diabetes, Marked muscular hypertrophy, Skeletal muscle hypertrophy, Hyperuricemia, Hyper...	ORPHA:79083
Mixed Connective Tissue Disease	Hemolytic anemia, Pericarditis, Gastrointestinal hemorrhage, Dyspnea, Nephropathy, Hepatomegaly, ...	ORPHA:809
Congenital Alveolar Capillary Dysplasia	Pulmonary valve atresia, Atrial septal defect, Respiratory distress, Ventricular septal defect, A...	ORPHA:210122
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Abnormal circ...	ORPHA:403
Gaucher Disease Type 3	Hematuria, Abnormal heart valve morphology, Mitral valve calcification, Pericardial effusion, Hep...	ORPHA:77261
Atrial Septal Defect 6	Atrial fibrillation, Atrial septal defect, Bradycardia	OMIM:613087
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Secretory adrenocortical adenoma, Epistaxis, Hypertension, Glucocortocoi...	ORPHA:404
Eosinophilic Granulomatosis With Polyangiitis	Hematuria, Cough, Respiratory insufficiency, Sinusitis, Myocarditis, Myositis, Renal insufficienc...	ORPHA:183
Renal Hypoplasia	Abnormal renal tubule morphology, Abnormal renal morphology, Decreased numbers of nephrons, Ureth...	ORPHA:93101
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Hypoproteinemia, Tachycardia	OMIM:221400
Duodenal Neuroendocrine Tumor	Elevated circulating growth hormone concentration, Insulinoma, Melena, Cardiogenic shock, Iron de...	ORPHA:100076
Keutel Syndrome	Pulmonary arterial hypertension, Recurrent sinusitis, Ventricular septal defect	ORPHA:85202
Alstrom Syndrome	Hyperuricemia, Renal insufficiency, Hypergonadotropic hypogonadism, Tubulointerstitial nephritis,...	OMIM:203800
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Torsade de pointes, Hyperammonemia, Elevated hepatic transaminase, Acute rhabdomyolysis, Prematur...	OMIM:616878
Histiocytosis-Lymphadenopathy Plus Syndrome	Camptodactyly, Histiocytosis, Cardiomegaly, Pulmonary arterial hypertension, Mitral valve prolaps...	OMIM:602782
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Reduced ejection fraction, Arrhythmia, Macroglossia, Hypoventilation, Aspiration, Congenital musc...	ORPHA:258
Symptomatic Form Of Hemochromatosis Type 1	Increased circulating ferritin concentration, Arrhythmia, Decreased muscle mass, Abnormality of i...	ORPHA:465508
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Palpitations, Increased circulating cortisol level, Neoplasm of the adrenal gland, Intracranial h...	ORPHA:231625
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome	Abnormal cardiac septum morphology, Arrhythmia, Bundle branch block	ORPHA:1479
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Tularemia	Respiratory distress, Leukocytosis, Pleural effusion, Cough, Pneumonia, Thrombocytopenia, Tachyca...	ORPHA:3392
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Tubulointerstitial fibrosis, Renal hypoplasia, Hypotension, Elevated circulating creatinine conce...	OMIM:174000
Scorpion Envenomation	Acute kidney injury, Cardiac conduction abnormality, Increased circulating NT-proBNP concentratio...	ORPHA:466677
Truncus Arteriosus	Adrenocortical abnormality, Atrial septal defect, Truncus arteriosus, Aortic regurgitation, Abnor...	ORPHA:3384
Pseudohypoaldosteronism Type 2	Hyperkalemia, Hypertension	ORPHA:757
Yellow Nail Syndrome	Renal neoplasm, Dyspnea, Bronchiectasis, Cough, Nephropathy, Rhinitis, Sinusitis, Pulmonary arter...	ORPHA:662
Glutaric Aciduria Iii	Glutaric aciduria, Goiter, Hyperthyroidism, Hypertension	OMIM:231690
Scleroderma	Intestinal bleeding, Pericarditis, Acute kidney injury, Right ventricular failure, Interstitial c...	ORPHA:801
Familial Pseudohyperkalemia	Episodic hemolytic anemia, Stomatocytosis, Reticulocytosis, Hypertension, Increased mean corpuscu...	ORPHA:90044
Melas	Cardiac conduction abnormality, Abnormal mitochondria in muscle tissue, Anemia, Type II diabetes ...	ORPHA:550
Acute Interstitial Pneumonia	Dyspnea, Bronchiectasis, Pleural effusion, Reduced hematocrit, Elevated circulating creatinine co...	ORPHA:79126
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Decreased plasma carnitine, Respiratory arrest, Reduced ejection fraction, Exercise-induced rhabd...	OMIM:201475
X-Linked Hypohidrotic Ectodermal Dysplasia	Type I diabetes mellitus, Anterior hypopituitarism, Hypertension	ORPHA:181
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Hematuria, Hypertension, Glomerular basement membrane lamellation, Stage 5 c...	OMIM:203780
Sinoatrial Node Dysfunction And Deafness	Bradycardia	OMIM:614896
Scimitar Syndrome	Single ventricle, Cough, Dextrocardia, Double outlet right ventricle, Pulmonary arterial hyperten...	ORPHA:185
Pulmonary Hypertension, Primary, 3	Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo...	OMIM:615343
Paragangliomas 4	Palpitations, Extraadrenal pheochromocytoma, Hypertension associated with pheochromocytoma, Adren...	OMIM:115310
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Decreased liver function, Polycystic kidney dysplasia, Hypertension	OMIM:600666
Primary Pigmented Nodular Adrenocortical Disease	Hypertension, Skeletal muscle atrophy, Diabetes mellitus, Myopathy, Hypogonadism, Adrenal hyperpl...	ORPHA:189439
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Patent foramen ovale, Autoimmune thrombocytopenia, Bronchiectasis, Renovascular hypertension, Aut...	ORPHA:391487
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Renal insufficiency, Hypertension, Stage 5 chronic kidney d...	OMIM:618061
Porphyria, Acute Intermittent	Dysuria, Hypertension, Respiratory paralysis, Urinary incontinence, Urinary retention, Tachycardi...	OMIM:176000
Autosomal Recessive Centronuclear Myopathy	Scapular winging, Abnormal heart valve morphology, Centrally nucleated skeletal muscle fibers, Re...	ORPHA:169186
Kagami-Ogata Syndrome	Diastasis recti, Atrial septal defect, Ventricular septal defect, Flexion contracture, Hepatomega...	OMIM:608149
Ganglioneuroma	Gastrointestinal hemorrhage, Neoplasm of the adrenal gland, Central hypoventilation, Hypertension...	ORPHA:251992
Neuraminidase Deficiency	Bone-marrow foam cells, Vacuolated lymphocytes, Hepatomegaly, Cardiomegaly, Urinary excretion of ...	OMIM:256550
Cardiogenic Shock	Low pulse pressure, Right ventricular failure, Dyspnea, Hypotension, Elevated circulating creatin...	ORPHA:97292
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Atrial septal defect, Respiratory distress, Ventricular septal defect, Congenital hypothyroidism,...	ORPHA:2519
Abdominal Obesity-Metabolic Syndrome 4	Elevated hemoglobin A1c, Hypertension, Hypertriglyceridemia, Myocardial infarction, Type II diabe...	OMIM:618620
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Flexion contracture, Bradycardia, Dilated cardiomyopathy, Hypospadias, Micropenis, Hypertrophic c...	OMIM:618815
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Tubulointerstitial fibrosis, Enlarged kidney, Hypertension, Hepatomegaly, Absence of renal cortic...	OMIM:263200
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Ischemic stroke, Stress urinary incontinence, Intracranial hemorrhage, Hypertension, Cerebral hem...	ORPHA:136
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Macronodular adrenal hyperplasia, Diabetes mellitus, Nephrolithiasis, Hypertension	ORPHA:189427
Salih Myopathy	Arrhythmia, Dilated cardiomyopathy, Centrally nucleated skeletal muscle fibers, Flexion contractu...	OMIM:611705
Brain-Lung-Thyroid Syndrome	Compensated hypothyroidism, Megacystis, Atrial septal defect, Patent foramen ovale, Respiratory d...	ORPHA:209905
Familial Isolated Restrictive Cardiomyopathy	Dyspnea, Supraventricular arrhythmia, Orthopnea, Abnormal left ventricular function, Atrial fibri...	ORPHA:75249
Systemic Sclerosis	Acute kidney injury, Pericarditis, Chronic kidney disease, Myocarditis, Pulmonary arterial hypert...	ORPHA:90291
Poems Syndrome	Restrictive ventilatory defect, Thrombocytosis, Pleural effusion, Pericardial effusion, Polycythe...	ORPHA:2905
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Hypertension, Urinary incontinence, Ves...	ORPHA:2704
Acquired Generalized Lipodystrophy	Hyperinsulinemia, Abnormal cardiovascular system physiology, Abnormal circulating lipid concentra...	ORPHA:79086
Seckel Syndrome 10	Ventricular hypertrophy, Elevated circulating luteinizing hormone level, Elevated hemoglobin A1c,...	OMIM:617253
Familial Parathyroid Adenoma	Hypophosphatemia, Parathyroid carcinoma, Renal insufficiency, Parathyroid hyperplasia, Hyperphosp...	ORPHA:99877
Glycogen Storage Disease Ii	Macroglossia, Dyspnea, Wolff-Parkinson-White syndrome, Firm muscles, Respiratory insufficiency, H...	OMIM:232300
Glucocorticoid Resistance, Generalized	Hypertension	OMIM:615962
Autosomal Dominant Polycystic Kidney Disease	Pituitary growth hormone cell adenoma, Hematuria, Albuminuria, Pyelonephritis, Enlarged kidney, M...	ORPHA:730
Extracranial Carotid Artery Aneurysm	Arteritis, Subarachnoid hemorrhage, Hypertension, Cerebral ischemia, Diabetes mellitus, Vasculiti...	ORPHA:494424
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form	Red-brown urine, Decreased plasma total carnitine, Arrhythmia, Ventricular hypertrophy, Elevated ...	ORPHA:228305
Gitelman Syndrome	Palpitations, Hypocalciuria, Hypotension, Nocturia, Renal potassium wasting, Polyuria, Enuresis, ...	OMIM:263800
Linear Skin Defects With Multiple Congenital Anomalies 3	Dilated cardiomyopathy, Ventricular fibrillation, Cardiac arrest, Ventricular tachycardia	OMIM:300952
Adrenocortical Carcinoma	Abnormality of urine homeostasis, Increased urinary cortisol level, Palpitations, Abnormal circul...	ORPHA:1501
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Pulmonary arterial hypertension, Congestive heart failure, Sleep apnea, Central apnea	OMIM:616482
Cholera	Hypocalcemia, Abnormality of renal excretion, Acute kidney injury, Hypotension, Hyponatremia, Abn...	ORPHA:173
Klippel-Trénaunay Syndrome	Atrial septal defect, Hematuria, Gastrointestinal hemorrhage, Internal hemorrhage, Abnormal tricu...	ORPHA:90308
Schimke Immunoosseous Dysplasia	Focal segmental glomerulosclerosis, Lymphopenia, Elevated circulating thyroid-stimulating hormone...	OMIM:242900
Abdominal Obesity-Metabolic Syndrome 3	Hypercholesterolemia, Myocardial infarction, Coronary artery stenosis, Hypertension	OMIM:615812
Cryoglobulinemia, Familial Mixed	Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration, Hypertension...	OMIM:123550
Vici Syndrome	Penile hypospadias, Decreased proportion of CD4-positive helper T cells, Congestive heart failure...	OMIM:242840
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Hyperammonemia, Dilated cardiomyopathy, Respiratory distress, Abnormal heart morphology, Megalobl...	ORPHA:79282
Graft Versus Host Disease	Acute hepatitis, Hemophagocytosis, Elevated hepatic transaminase, Hyperbilirubinemia, Pneumonia, ...	ORPHA:39812
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Red-brown urine, Cardiomegaly, Elevated circulating creatine kinase concentration, Renal insuffic...	ORPHA:228308
Cardiac-Valvular Ehlers-Danlos Syndrome	Atrial septal defect, Tendon rupture, Dyspnea, Aortic regurgitation, Pulmonary insufficiency, Abn...	ORPHA:230851
Arrhythmogenic Right Ventricular Dysplasia, Familial, 2	Ventricular arrhythmia, Effort-induced polymorphic ventricular tachycardia, Right ventricular car...	OMIM:600996
Hemochromatosis, Type 2A	Increased circulating ferritin concentration, Arrhythmia, Hepatomegaly, Congestive heart failure,...	OMIM:602390
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Increased total bilirubin, Respiratory insufficiency, Cardiomegaly, Renal insufficiency, Ureteral...	OMIM:608836
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Acute kidney injury, Increased blood urea nitrogen, Anuria, Re...	OMIM:235400
Adams-Oliver Syndrome	Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Thrombocytopenia, Leukopenia, P...	ORPHA:974
Familial Progressive Cardiac Conduction Defect	Arrhythmia, Bundle branch block, Dyspnea, Congestive heart failure, Heart block, Syncope	ORPHA:871
Paroxysmal Hemicrania	Diabetes mellitus, Rhinitis, Hypertension, Rhinorrhea	ORPHA:157835
Congenital Hypothyroidism	Macroglossia, Arrhythmia, Goiter, Anterior hypopituitarism, Hypotension, Hypothyroidism, Abnormal...	ORPHA:442
Von Hippel-Lindau Disease	Palpitations, Pancreatic endocrine tumor, Multiple renal cysts, Arrhythmia, Elevated circulating ...	ORPHA:892
Paternal Uniparental Disomy Of Chromosome 1	Episodic hemolytic anemia, Increased blood urea nitrogen, Enlarged kidney, Hypertension, Membrano...	ORPHA:251004
Stiff Skin Syndrome	Nephrolithiasis, Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus	ORPHA:2833
Sporadic Pheochromocytoma/Secreting Paraganglioma	Palpitations, Elevated urinary dopamine, Hematuria, Extraadrenal pheochromocytoma, Hypertension a...	ORPHA:276621
Porphyria	Dupuytren contracture, Abnormal urinary color, Abnormal circulating porphyrin concentration, Hype...	ORPHA:738
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Atrial flutter, Contractures of the large joints, Abnormal atrioventricular valve morphology, Tri...	ORPHA:324410
Renal Nutcracker Syndrome	Hematuria, Orthostatic hypotension, Proteinuria, Microscopic hematuria, Tachycardia, Anemia, Rena...	ORPHA:71273
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia, Hypertension, Pseudohypoaldosteronism	OMIM:614495
Primary Unilateral Adrenal Hyperplasia	Palpitations, Epistaxis, Increased urinary potassium, Hypertension, Glucocortocoid-insensitive pr...	ORPHA:231580
Childhood-Onset Spasticity With Hyperglycinemia	Nonketotic hyperglycinemia, Left ventricular hypertrophy	ORPHA:401866
Liddle Syndrome 1	Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone l...	OMIM:177200
Glycogen Storage Disease Ia	Decreased muscle mass, Elevated hepatic transaminase, Focal segmental glomerulosclerosis, Enlarge...	OMIM:232200
19P13.3 Microduplication Syndrome	Pulmonary arterial hypertension, Precocious puberty, Ventricular septal defect	ORPHA:447980
Mucolipidosis Type Ii	Diastasis recti, Obstructive sleep apnea, Stridor, Restrictive ventilatory defect, Aortic regurgi...	ORPHA:576
Methylcobalamin Deficiency Type Cble	Lower limb hypertonia, Neutropenia, Hypertension, Glomerulopathy, Pancytopenia, Hemolytic-uremic ...	ORPHA:2169
Apparent Mineralocorticoid Excess	Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone level, Hyperten...	OMIM:218030
Lipodystrophy, Familial Partial, Type 3	Maternal diabetes, Hyperinsulinemia, Hyperuricemia, Hypertension, Insulin-resistant diabetes mell...	OMIM:604367
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13	Bundle branch block, Ventricular tachycardia	OMIM:615616
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure	OMIM:178400
Idiopathic Congenital Hypothyroidism	Macroglossia, Decreased circulating T4 level, Elevated circulating thyroid-stimulating hormone co...	ORPHA:95717
Geleophysic Dysplasia 2	Respiratory insufficiency, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, Mitral stenos...	OMIM:614185
Pulmonary Capillary Hemangiomatosis	Right ventricular failure, Dyspnea, Elevated pulmonary artery pressure, Exertional dyspnea, Pleur...	ORPHA:199241
Nephroblastoma	Nephroblastoma, Hematuria, Hypertension	ORPHA:654
Postorgasmic Illness Syndrome	Palpitations, Hypertension	ORPHA:279947
Oligomeganephronia	Decreased numbers of nephrons, Proteinuria, Secundum atrial septal defect, Elevated circulating c...	ORPHA:2260
Atrial Standstill 2	Palpitations, Dyspnea, Atrial standstill, Atrial cardiomyopathy, Hyperpepsinogenemia I, Atrial ar...	OMIM:615745
Alport Syndrome 3, Autosomal Dominant	Hypophosphatemia, Renal insufficiency, Azotemia, Hematuria, Hypertension, Glomerulonephritis, Glo...	OMIM:104200
Arteriosclerosis, Severe Juvenile	Hypertension, Myocardial infarction, Delayed puberty, Chronic kidney disease, Anemia	OMIM:208060
Alport Syndrome 1, X-Linked	Thickened glomerular basement membrane, Hypertension, Thrombocytopenia, Microscopic hematuria, Gl...	OMIM:301050
Short Qt Syndrome 3	Shortened QT interval, Palpitations, Tachycardia	OMIM:609622
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Abnormal renal physiology, Increased blood urea nitrogen, Orthostatic hypotension, Elevated circu...

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