Not currently registered for phenotyping at IMPC

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

Gene Summary

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

IMPC Data Collections

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

IMPC Phenotype Summary

Not Significant
Not tested


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 associated to Nppa by orthology or direct annotation.

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

Disease Similarity of
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
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
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
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
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
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
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
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
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
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
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
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
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
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, Hematuria, Hypertension ORPHA:654
Postorgasmic Illness Syndrome
Palpitations, Hypertension ORPHA:279947
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...