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Gene: Nppa MGI:97367

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Nppa mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Atrial Standstill 2
Atrial arrhythmia, Hyperpepsinogenemia I, Atrial standstill, Palpitations, Absent P wave, Atrial ... OMIM:615745

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricular non... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 15
Myofiber disarray, Apical hypertrophic cardiomyopathy, Left ventricular outflow tract obstruction... OMIM:613255
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Abnormal cardiac septum morphology ORPHA:3188
Trimethylaminuria
Splenomegaly, Tachycardia, Recurrent pneumonia, Neutropenia, Trimethylaminuria, Hypertension, Anemia OMIM:602079
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left bundle branch block, Left ventricular hypertrophy, Left ventricular noncompaction, Sudden ca... OMIM:601493
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Left Ventricular Noncompaction 10
Left ventricular noncompaction, Increased left ventricular end-diastolic volume, Syncope, Dilated... OMIM:615396
Familial Dilated Cardiomyopathy
Left bundle branch block, Left ventricular hypertrophy, Palpitations, Mitral regurgitation, Eleva... ORPHA:217607
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Left atrial enlar... OMIM:115210
Atrial Fibrillation, Familial, 6
Left ventricular hypertrophy, Atrial fibrillation, Elevated left ventricular end-diastolic diamet... OMIM:612201
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Supraventricular tachycardia, Myofiber disarray, Left ventricular noncompaction, Left ventricular... OMIM:612158
Cardiomyopathy, Dilated, 1U
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613694
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Peripartum Cardiomyopathy
Myocarditis, Heart murmur, Left atrial enlargement, Reduced left ventricular ejection fraction, R... ORPHA:563
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, Ortho... OMIM:613838
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Left ventricular noncompac... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Palpitations, Ventricular arrhythmia, Syn... OMIM:610476
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Decreased muscle glycogen content, Cardiomyopathy, Left atrial enla... OMIM:611556
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602087
Cardiomyopathy, Familial Hypertrophic, 8
Restrictive cardiomyopathy, Left ventricular hypertrophy, Sudden cardiac death, Palpitations, End... OMIM:608751
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Apnea, Hepatomegaly, Left ventricular hypertrophy, Hyperalaninemia, Increased urine succinate lev... OMIM:619048
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular hypertrophy, Right ventricular failure, Syncope, Exertional dy... OMIM:265400
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Left ventricular hypertrophy, Ventricular tachycardia... OMIM:613251
Cardiomyopathy, Familial Hypertrophic 27
Tricuspid regurgitation, Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, M... OMIM:618052
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Abnormality of the shoulder girdle musculature, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:206546
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Mitral regurgitation, Increased left ventricular end-diastolic volu... OMIM:615248
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Abnormal left ventricular function, Left ventricular hypertrophy,... OMIM:540000
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cardiomyopathy, Dilated, 1V
Left bundle branch block, Left ventricular hypertrophy, Increased left ventricular end-diastolic ... OMIM:613697
Coronary Artery Disease, Autosomal Dominant, 1
Myocardial infarction, Hypertension OMIM:608320
Cardiomyopathy, Familial Hypertrophic, 11
Angina pectoris, Left anterior fascicular block, Left bundle branch block, Atrial septal defect, ... OMIM:612098
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Focal necrosis of right ventricular muscle cells,... OMIM:602086
Coproporphyria, Hereditary
Hepatomegaly, Respiratory paralysis, Splenomegaly, Tachycardia, Increased urinary porphobilinogen... OMIM:121300
Cardiomyopathy, Familial Hypertrophic, 10
Supraventricular tachycardia, Left bundle branch block, Left ventricular hypertrophy, Sudden card... OMIM:608758
Atrial Septal Defect, Sinus Venosus Type
Supraventricular arrhythmia, Airway obstruction, Anomalous pulmonary venous return, Atrial arrhyt... ORPHA:99105
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Ventricular arrhythmia, Right ventricular cardiomyopathy OMIM:107970
Attrv122I Amyloidosis
Angina pectoris, Cardiac amyloidosis, Aortic valve stenosis, Atrial arrhythmia, Tendon rupture, R... ORPHA:85451
Preeclampsia/Eclampsia 1
Hypertension, Thrombocytopenia, Proteinuria, Elevated hepatic transaminase OMIM:189800
Loeffler Endocarditis
Right bundle branch block, Pericarditis, Myocardial fibrosis, Abnormal morphology of the chordae ... ORPHA:75566
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased endomysial connective tissue, Macroglossia, Right ventricular hypertrophy, Calf muscle ... ORPHA:353
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Palpitations, Syncope, Heart murmur, Abnormal cardiovascul... ORPHA:422
Complete Atrioventricular Septal Defect
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Elevated pulmonary artery pre... ORPHA:1329
Coronary Arterial Fistula
Angina pectoris, Systolic heart murmur, Cardiomegaly, Abnormal heart morphology, Palpitations, Ta... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 18
Atrial fibrillation, Left ventricular hypertrophy, Paroxysmal atrial fibrillation, Hypertrophic c... OMIM:613874
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Hepatomegaly, Heart murmur, ... ORPHA:860
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Dilated cardiomyop... OMIM:604765
Cardiomyopathy, Familial Hypertrophic, 21
Myofiber disarray, Left ventricular hypertrophy, Mitral valve prolapse, Atrial fibrillation, Hype... OMIM:614676
Fixed Subaortic Stenosis
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... ORPHA:3092
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Right ventricular hypertrophy, Right ventricular failure, Abno... ORPHA:70589
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular hypertrophy, Right ventricular failure, Cough, ... OMIM:178600
Cardiomyopathy, Familial Hypertrophic, 17
Myocardial fibrosis, Angina pectoris, Left ventricular hypertrophy, Palpitations, Ventricular tac... OMIM:613873
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Right ventricular hypertrophy, Palpitations, Elevated pulmonary artery p... ORPHA:275766
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Supraventricular tachycardia, Respiratory insufficiency, Elevated circulating creatine kinase con... OMIM:255100
Cardiomyopathy, Dilated, 2G
Multifocal atrial tachycardia, Myofiber disarray, Cerebral hemorrhage, Tricuspid regurgitation, M... OMIM:619897
Cardiomyopathy, Dilated, 1D
Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompaction, Increased cir... OMIM:601494
Combined Oxidative Phosphorylation Deficiency 33
Nephrotic syndrome, Hepatomegaly, Left ventricular hypertrophy, Elevated circulating creatine kin... OMIM:617713
Sick Sinus Syndrome 2
Torsade de pointes, Left ventricular hypertrophy, Sudden cardiac death, Left ventricular noncompa... OMIM:163800
Glomerulopathy With Fibronectin Deposits 2
Nephrotic syndrome, Glomerular deposits, Glomerulomegaly, Renal insufficiency, Proteinuria, Hyper... OMIM:601894
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Left ventricular hypertrophy, Renal dysplasia, Abnorma... OMIM:616733
Congenital Gerbode Defect
Bacterial endocarditis, Right atrial enlargement, Elevated right atrial pressure, Tricuspid regur... ORPHA:99095
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Left ventricular hypertrophy, Atrial flut... OMIM:614022
Classic Multiminicore Myopathy
Multiple joint contractures, Muscle fiber atrophy, Right ventricular hypertrophy, Weakness of fac... ORPHA:324604
Atrial Standstill
Ventricular escape rhythm, Mobitz I atrioventricular block, Sick sinus syndrome, Reduced left ven... ORPHA:1344
Glomerulopathy With Fibronectin Deposits 1
Nephrotic syndrome, Lobular glomerulopathy, Nephropathy, Renal insufficiency, Proteinuria, Glomer... OMIM:137950
Cirrhotic Cardiomyopathy
Hepatomegaly, Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Abn... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardiomyopathy OMIM:613876
Fabry Disease
Angina pectoris, Airway obstruction, Anemia, Left ventricular hypertrophy, Arrhythmia, Myocardial... OMIM:301500
Myofibrillar Myopathy 10
Flexion contracture of finger, Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevat... OMIM:619040
Acute Peripheral Arterial Occlusion
Supraventricular tachycardia, Leukocytosis, Absent ankle pulse, Myocardial infarction, Abnormalit... ORPHA:90064
Heparin-Induced Thrombocytopenia
Increased serum serotonin, Pulmonary embolism, Autoimmune thrombocytopenia, Cerebral ischemia, My... ORPHA:3325
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure OMIM:605711
Coenzyme Q10 Deficiency, Primary, 5
Hyperalaninemia, Left ventricular hypertrophy, Respiratory insufficiency, Bradycardia OMIM:614654
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Pituitary adenoma, Elevated circulating growth hormone con... OMIM:102200
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Decreased liver function, Respiratory insufficiency, Arrhythmia, Thrombocytopenia, Ventricular se... OMIM:617021
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Prolonged QRS complex, Premature ventricular contraction, Right ventricular cardiomyopathy, Presy... OMIM:604400
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Effort-induced polymorphic ventricular tachycardia, Bidirectional ventricular tachycardia, Atrial... OMIM:604772
Incessant Infant Ventricular Tachycardia
Bundle branch block, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Prolonged QRS ... ORPHA:45453
Cardiomyopathy, Dilated, 2C
Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Arrhythmia, Abnormal heart valve morphology, Hypertension, Hypertrophic cardi... ORPHA:1345
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Nephrolithiasis, Hypokalemia, Decreased circulating renin level, Left ventricular hypertrophy, Ve... OMIM:615474
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Right ventricular hypertrophy, Left ventricular hypertrophy, Paro... ORPHA:444013
Nail-Patella-Like Renal Disease
Renal insufficiency, Proteinuria, Glomerulopathy, Hypertension, Microscopic hematuria ORPHA:2613
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Hypertension, Pulmonary arterial hypertension, Right ventricular hypertrophy OMIM:613623
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Thigh hypertrophy, Left ventricular hypertrophy, Calf muscle hypertrophy, I... ORPHA:86812
Maternally-Inherited Diabetes And Deafness
Type II diabetes mellitus, Abnormal circulating lipid concentration, Arrhythmia, Proteinuria, Ren... ORPHA:225
Primary Membranoproliferative Glomerulonephritis
Chronic kidney disease, Nephrotic syndrome, Myocardial infarction, Glomerular subendothelial elec... ORPHA:54370
Iga Nephropathy, Susceptibility To, 2
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:613944
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Prolonged QRS complex, Right ventricular cardiomyopathy, Ventricular arrhythmia, Syncope, T-wave ... OMIM:611528
Coronary Artery Disease, Autosomal Dominant 2
Hyperlipidemia, Sudden cardiac death, Myocardial infarction, Hypertriglyceridemia, Diabetes melli... OMIM:610947
Takayasu Arteritis
Hypertrophic cardiomyopathy, Abnormal aortic valve morphology, Abnormal pattern of respiration, V... ORPHA:3287
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Hypertension, Bicuspid aortic valve, Pulmonary arterial hypertension, Atrial septal defect OMIM:613355
Congenital Heart Defects, Multiple Types, 3
Atrial septal defect, Atrioventricular dissociation, Tachycardia, Tetralogy of Fallot, Right bund... OMIM:614954
Renal Failure, Progressive, With Hypertension
Nephritis, Elevated circulating creatinine concentration, Renal insufficiency, Proteinuria, Hyper... OMIM:161900
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Iga Nephropathy, Susceptibility To, 3
Mesangial hypercellularity, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertensio... OMIM:616818
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Shoulder girdle muscle weakness, Exertional dyspnea, EMG: myopathic abnorm... ORPHA:263297
Cardiomyopathy, Dilated, 1P
Reduced systolic function, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive heart failure OMIM:609909
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hepatomegaly, Oligosaccha... ORPHA:308552
Familial Hyperaldosteronism Type Iii
Hypokalemia, Left ventricular hypertrophy, Intracranial hemorrhage, Hypercalciuria, Adrenal hyper... ORPHA:251274
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Hyperprolinemia, Elevated hepatic transaminase, Hyperalaninemia, Pulmonary arterial... OMIM:619064
Focal Segmental Glomerulosclerosis 2
Chronic kidney disease, Nephrotic syndrome, Focal segmental glomerulosclerosis, Proteinuria, Hype... OMIM:603965
Congenital Aortic Valve Stenosis
Angina pectoris, Aortic valve calcification, Abnormal left ventricular function, Aortic valve ste... ORPHA:3093
Combined Oxidative Phosphorylation Deficiency 22
Hyperalaninemia, Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chylopericardium, Hepatomegaly, Tricuspid regurgitation, Chronic pulmonary ... ORPHA:2414
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Hypertension, Transient ischemic attack, Lacunar stroke OMIM:616779
Lipoyltransferase 1 Deficiency
Decreased liver function, Elevated hepatic transaminase, Increased total bilirubin, Pulmonary art... OMIM:616299
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276575
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Left ventricular hypertrophy, Mus... OMIM:613156
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Left bundle branch block, Premature ventricular contraction, Presyncope, Palpitations, Ventricula... OMIM:618920
Preeclampsia
Chronic kidney disease, Abnormality of the kidney, Elevated systolic blood pressure, Elevated hep... ORPHA:275555
Atrial Septal Defect, Ostium Primum Type
Airway obstruction, Systolic heart murmur, Right bundle branch block, Abnormal respiratory system... ORPHA:99106
Mitochondrial Complex I Deficiency, Nuclear Type 35
Lacticaciduria, Elevated urinary 4-hydroxybutyric acid, Hyperprolinemia, Neonatal respiratory dis... OMIM:619003
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, ST segment depression, Leukocytosis, Left ventricular hypertrophy, Cerebral ... ORPHA:90065
Amyloidosis, Familial Visceral
Nephrotic syndrome, Hepatomegaly, Splenomegaly, Nephropathy, Hematuria, Proteinuria, Hypertension OMIM:105200
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Muscle fiber atrophy, Reduced vital capacity, Abnormal Z disc morphology, Internally nucleated sk... OMIM:618654
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, El... OMIM:265450
Variegate Porphyria
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... OMIM:176200
Atrial Septal Defect, Ostium Secundum Type
Supraventricular arrhythmia, Abnormal mitral valve morphology, Airway obstruction, Systolic heart... ORPHA:99103
Overlap Myositis
Distal lower limb muscle weakness, Raynaud phenomenon, Abnormal circulating lipid concentration, ... ORPHA:206572
Stuve-Wiedemann Syndrome 2
Respiratory distress, Camptodactyly, Pulmonary arterial hypertension, Thrombocytopenia, Congestiv... OMIM:619751
Congenital Fibrinogen Deficiency
Micropenis, Right ventricular hypertrophy, Left ventricular hypertrophy, Tachycardia, Internal he... ORPHA:335
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:276580
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Respiratory arrest, Hyperammonemia, Elevated circulating creatine kinase concentrat... OMIM:600649
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular arrhythmia, Congestive hea... OMIM:600884
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Left ventricular hypertrophy, EMG: myopathic abnormalities, Elevated circulating creatine kinase ... OMIM:615418
Brugada Syndrome
Supraventricular tachycardia, Trifascicular block, Paroxysmal ventricular tachycardia, Tachycardi... ORPHA:130
Atrial Fibrillation, Familial, 15
Supraventricular tachycardia, Sudden cardiac death, Atrial flutter, Left atrial enlargement, Atri... OMIM:615770
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Chronic kidney disease, Hypomagnesemia, Type 2 muscle fiber atrophy, Respiratory insufficiency, P... OMIM:613845
Familial Idiopathic Dilatation Of The Right Atrium
Right atrial enlargement, Atrioventricular block, Hepatomegaly, Complete heart block with narrow ... ORPHA:1677
Focal Segmental Glomerulosclerosis 1
Hyperlipidemia, Focal segmental glomerulosclerosis, Proteinuria, Hypoalbuminemia, Hypertension, A... OMIM:603278
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Muscular edema, Right ventricular hypertrophy, Proximal muscle weakness in lower limbs, Calf musc... ORPHA:268
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Left anterior fascicular block, Atrial arrhythmia, Premature ventricular contraction, Tachycardia... OMIM:616117
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon test, Diffuse... ORPHA:276556
Focal Segmental Glomerulosclerosis 5
Focal segmental glomerulosclerosis, Proteinuria, Hypertension, Microscopic hematuria, Stage 5 chr... OMIM:613237
Heme Oxygenase 1 Deficiency
Increased circulating ferritin concentration, Hepatomegaly, Elevated circulating C-reactive prote... OMIM:614034
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Myocardia... OMIM:133100
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Premature ventricular contraction, Hyperammonemia, Elevated circulating creatine ki... OMIM:212138
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hematuria, Focal segmental glomerulosclerosis, Proteinuria, Renal insufficiency, Hypertension OMIM:607832
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Apnea, Cerebral hemorrhage, Leukocytosis, Respirato... OMIM:618886
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Abnormal cardiac septum morphology, Increased endomysial connective tissue, Scapular winging, Inc... ORPHA:437572
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Hypokalemia, Left ventricular hypertrophy, Abnormality o... ORPHA:320
Cardiomyopathy, Dilated, 1O
Impaired myocardial contractility, Dilated cardiomyopathy, Ventricular tachycardia, Congestive he... OMIM:608569
Snakebite Envenomation
Muscle fiber necrosis, Respiratory paralysis, Intracranial hemorrhage, Tachycardia, Cardiogenic s... ORPHA:449285
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Relapsing Fever
Elevated circulating C-reactive protein concentration, Jaundice, Neutrophilia, Leukocytosis, Abno... ORPHA:91547
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Bidirecti... OMIM:614021
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nephrolithiasis, Hypokalemia, Intracranial hemorrhage, Ventricular septal defect, Adrenal hyperpl... ORPHA:369929
Cardiomyopathy, Dilated, 2F
Increased circulating brain natriuretic peptide concentration, Increased left ventricular end-dia... OMIM:619747
Hyperinsulinism Due To Hnf1A Deficiency
Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Excessive insulin response to gluc... ORPHA:324575
Cardiomyopathy, Dilated, 1E
Supraventricular tachycardia, Left bundle branch block, Premature atrial contractions, Premature ... OMIM:601154
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscle fiber necrosis, Increased endomysial connective tissue, Flexion contracture, Right ventric... OMIM:253700
Cardiomyopathy, Familial Hypertrophic, 12
Sudden cardiac death, Ventricular septal hypertrophy, Ventricular tachycardia, Paroxysmal atrial ... OMIM:612124
Iga Nephropathy, Susceptibility To, 1
Nephritis, Hematuria, IgA deposition in the glomerulus, Proteinuria, Hypertension, Stage 5 chroni... OMIM:161950
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Cardiac arrest, Prolonged QRS complex, Epsilon wave, Premature ventricular contraction, Right ven... OMIM:609040
Cardiomyopathy, Dilated, 2D
Right atrial enlargement, Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscu... OMIM:619371
Long Qt Syndrome 15
Polymorphic ventricular tachycardia, Ventricular bigeminy, Left ventricular noncompaction, Ventri... OMIM:616249
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Splenomegaly, Tachycardia, Increased total bilirubin, Autoimmune hemolyti... ORPHA:90037
Erythrocytosis, Familial, 2
Elevated circulating erythropoietin concentration, Increased hematocrit, Cerebral hemorrhage, Hyp... OMIM:263400
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Ventricular tachycardia, Syncope ORPHA:3286
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Dark urine, Recurrent myoglobinuria, Increased m... ORPHA:368
Gaucher Disease, Type I
Aortic valve stenosis, Hepatomegaly, Splenomegaly, Mitral regurgitation, Thrombocytopenia, Pancyt... OMIM:230800
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Bradycardia, Ventricular tachycardia, Polymorphic ventricular tachycardia, Syncope OMIM:611938
Liddle Syndrome
Hypokalemia, Nephropathy, Arrhythmia, Cerebral ischemia, Renal insufficiency, Hypertension ORPHA:526
Morbid Obesity And Spermatogenic Failure
Type II diabetes mellitus, Increased LDL cholesterol concentration, Decreased HDL cholesterol con... OMIM:615703
Congenital Disorder Of Glycosylation, Type It
Hepatomegaly, Sudden cardiac death, Tachycardia, Elevated circulating creatine kinase concentrati... OMIM:614921
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Supraventricular tachycardia, Abnormal left ventricular function, Arrhythmi... ORPHA:45452
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Premature ventricular contraction, Right ventricular cardiomyopathy, Palpitations, ... OMIM:610193
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Pulmonary arterial hypertension, Atrial septal defect, Tetralogy of Fallot OMIM:300887
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Abnormal mitral valve morphology, Nephrotic syndrome, Nephropathy, Type I diabetes mellitus, Prot... ORPHA:1192
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Supraventricular arrhythmia, Right atrial enlargement, Anomalous pulmona... ORPHA:99104
Fibronectin Glomerulopathy
Nephrotic syndrome, Cerebral hemorrhage, Abnormal glomerular mesangium morphology, Renal insuffic... ORPHA:84090
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Right ventricular cardiomyopathy, Sudden cardiac death, Ventri... OMIM:607450
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Atrial septal defect, Flexion contracture, Micropenis, Tachycardia, Ventricular septal defect, Hy... OMIM:613870
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough OMIM:234810
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Atrial septal defect, Unilateral renal agenesis, Ventricular septal defect, Hypertension, Pulmona... OMIM:608406
Cardiomyopathy, Dilated, 1Ii
Mitral regurgitation, Elevated circulating creatine kinase concentration, Increased left ventricu... OMIM:615184
Antithrombin Iii Deficiency
Pulmonary embolism, Arterial occlusion OMIM:613118
Combined Oxidative Phosphorylation Deficiency 30
Hyperalaninemia, Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transam... OMIM:616974
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Tricuspid regurgitation, Hypertrophic cardiomyopathy, Hyperammonemia, Hyperalaninemia, Ventricula... OMIM:619051
Beta-Thalassemia Intermedia
Anemia of inadequate production, Decreased mean corpuscular volume, Hepatomegaly, Abnormality of ... ORPHA:231222
Aapoaiv Amyloidosis
Abnormal renal medulla morphology, Renal interstitial amyloid deposits, Elevated circulating crea... ORPHA:439232
Phosphoribosylpyrophosphate Synthetase Superactivity
Arrhythmia, Renal insufficiency, Hyperuricemia, Hypertension, Cardiomyopathy ORPHA:3222
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Hyperte... ORPHA:1457
Atrial Standstill 1
Premature atrial contractions, Ventricular escape rhythm, Atrial standstill, Endocardial fibroela... OMIM:108770
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Ketonuria, 3-hydroxydicarboxylic aciduria, Hep... OMIM:619355
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Ventricular sep... OMIM:108900
Cardiomyopathy, Dilated, 1G
Premature atrial contractions, Dilated cardiomyopathy, Ventricular tachycardia, Atrial fibrillati... OMIM:604145
Lessel-Kubisch Syndrome
Hypertension, Renal hypoplasia, Renal insufficiency, Hypogonadism OMIM:618681
Malignant Hyperthermia, Susceptibility To, 1
Elevated circulating creatine kinase concentration, Tachycardia, Myoglobinuria, Hypotension, Rhab... OMIM:145600
Aortic Arch Interruption
Respiratory distress, Blood pressure substantially higher in arms than legs, Systolic heart murmu... ORPHA:2299
Tangier Disease
Facial diplegia, Hepatomegaly, Splenomegaly, Left ventricular hypertrophy, Decreased HDL choleste... OMIM:205400
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Nephrogenic diabetes insipidus, Giant cell hepatitis, Hepatomegaly, Renal tubular acidosis, Amino... OMIM:613404
Idiopathic Non-Lupus Full-House Nephropathy
Nephrotic syndrome, Glomerular C3 deposition, Abnormal glomerular mesangium morphology, Elevated ... ORPHA:567544
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Atrial septal defect, Elevated circulating propionylcarnitine concentration, Hypomethioninemia, M... OMIM:614857
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Paroxysmal Extreme Pain Disorder
Tachycardia, Rhinorrhea, Bradycardia OMIM:167400
Cardiomyopathy, Dilated, 1S
Bicuspid aortic valve, Tricuspid regurgitation, Left ventricular noncompaction, Sudden cardiac de... OMIM:613426
Pheochromocytoma--Islet Cell Tumor Syndrome
Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochromocytoma, Episodic hyp... OMIM:171420
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure OMIM:605676
Aicardi-Goutieres Syndrome 9
Hepatomegaly, Thickened glomerular basement membrane, Proteinuria, Pericarditis, Stage 5 chronic ... OMIM:619487
Atrioventricular Septal Defect 3
Inlet ventricular septal defect, Primum atrial septal defect, Atrioventricular canal defect, Mids... OMIM:600309
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Right ventricular hypertrophy, Interstitial pneumonitis, Chronic lung disease, Tachypnea, Spontan... ORPHA:217563
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Nephrogenic diabetes insipidus, Giant cell hepatitis, Atrial septal defect, Renal tubular acidosi... OMIM:208085
Ventricular Tachycardia, Familial
Sudden cardiac death, Paroxysmal ventricular tachycardia, Cardiomyopathy, Right bundle branch block OMIM:192605
Pulmonary Arteriovenous Malformation
Bacterial endocarditis, Telangiectasia, Hemothorax, Pleural empyema, Pulmonary hemorrhage, Palpit... ORPHA:2038
Long Qt Syndrome 13
Torsade de pointes, Permanent atrial fibrillation, Palpitations, Pulmonary embolism, Syncope, Pro... OMIM:613485
Tako-Tsubo Cardiomyopathy
Angina pectoris, Decreased QRS voltage, Low-output congestive heart failure, Abnormal B-type natr... ORPHA:66529
Attrv30M Amyloidosis
Abnormal renal physiology, Arrhythmia, Nephropathy, Cardiomegaly, Cardiomyopathy, Atrioventricula... ORPHA:85447
Isolated Succinate-Coq Reductase Deficiency
Abnormal left ventricular function, Left ventricular hypertrophy, Skeletal myopathy, Distal amyot... ORPHA:3208
Hyperaldosteronism, Familial, Type Ii
Hypertension OMIM:605635
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Splenomegaly, Tachycardia, Chronic lymphatic leukemia, Autoimmune hemolyt... ORPHA:90033
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Premature ventricular contraction, Sudden cardiac death, Syncope, Ventricular tachycardia, Ventri... OMIM:614916
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Supraventricular tachycardia, Abnormal left ventricular function, Sudden cardiac death, Muscular ... ORPHA:300751
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Abnormal heart valve physiology, Coombs-positive hemolytic anemia, Abnormality o... ORPHA:464343
Cystic Hamartoma Of Lung And Kidney
Hypertension, Respiratory insufficiency, Multicystic kidney dysplasia ORPHA:2111
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Tricuspid regurgitation, Left ventricular hypertrophy, Mitral r... ORPHA:746
Potocki-Shaffer Syndrome
Micropenis, Nephroblastoma, Hypothyroidism, Delayed puberty, Hypertension, Anemia ORPHA:52022
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Pulmonary arterial hypertension, Cardiomegaly, Tachypnea OMIM:613320
Adams-Oliver Syndrome 5
Right atrial enlargement, Right ventricular hypertrophy, Pulmonic stenosis, Splenomegaly, Patent ... OMIM:616028
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hyperinsulinemia, Hepatomegaly, Diabetes mellitus ORPHA:79084
Adenine Phosphoribosyltransferase Deficiency
Nephrolithiasis, Dysuria, Chronic kidney disease, Abnormal enzyme/coenzyme activity, Macroscopic ... ORPHA:976
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Calf muscle hypertrophy, Abnormal circulating hormone concentration, Insulin-re... ORPHA:280356
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Hand muscle weakness, Abnormal enzyme/coenzyme activity, Right... ORPHA:98915
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Hypotension, Heart murmur, Pulmonary arterial hypert... ORPHA:95459
Paragangliomas 3
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:605373
Sickle Cell Anemia
Hepatomegaly, Leukocytosis, Splenomegaly, Hematuria, Increased red cell sickling tendency, Hemoly... OMIM:603903
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hepatomegaly, Ventricular septal defect, Pneumonia, Increased circulating f... ORPHA:26793
Allergic Bronchopulmonary Aspergillosis
Asthma, Abnormal eosinophil morphology, Respiratory insufficiency, Cough, Emphysema, Bronchiectas... ORPHA:1164
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertriglyceridemia, Hypertension, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Ventricular fibrillation, Syncope OMIM:603829
Hereditary Coproporphyria
Dark urine, Proximal muscle weakness in lower limbs, Respiratory insufficiency, Tachycardia, Elev... ORPHA:79273
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Rh Deficiency Syndrome
Hypochromia, Hyperbilirubinemia, Spherocytosis, Anisocytosis, Hepatosplenomegaly, Tachycardia, Ta... ORPHA:71275
Ethanolaminosis
Cardiomegaly OMIM:227150
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Hepatomegaly, Muscular ventricular septal defect, Sudden cardiac death, Rig... OMIM:115197
Arterial Calcification, Generalized, Of Infancy, 2
Hypophosphatemic rickets, Myocardial infarction, Hypertension, Nephrocalcinosis, Congestive heart... OMIM:614473
Familial Atrial Myxoma
Bacterial endocarditis, Congestive heart failure, Tricuspid regurgitation, Heart murmur, Pulmonic... ORPHA:615
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating acylcarnitine concentration, Hepatomegaly, Hyperammonemia, Elevated creatine... ORPHA:159
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Hyperthyroidism, Palpitations, Tachycardia, Rhabdomyolysis, Goiter OMIM:188580
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Ketonuria, Hepatomegaly, Tricuspid regurgitation, Aspiration pneumonia, Left ventricular noncompa... OMIM:619167
Moyamoya Disease With Early-Onset Achalasia
Hypertension, Thrombocytopenia, Raynaud phenomenon ORPHA:401945
Paragangliomas 1
Glomus jugular tumor, Hypertension associated with pheochromocytoma, Palpitations, Tachycardia, E... OMIM:168000
Familial Cervical Artery Dissection
Recurrent cerebral hemorrhage, Facial palsy, Subarachnoid hemorrhage, Cerebral ischemia, Hyperten... ORPHA:36382
Porphyria Variegata
Chronic kidney disease, Inappropriate antidiuretic hormone secretion, Abnormal enzyme/coenzyme ac... ORPHA:79473
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Systolic heart murmur, Reduced left ventricular ejection frac... ORPHA:980
Fabry Disease
Angina pectoris, Telangiectasia of the skin, Hematuria, Abnormal myocardium morphology, Proteinur... ORPHA:324
Eisenmenger Syndrome
Angina pectoris, Supraventricular arrhythmia, Respiratory distress, Hepatomegaly, Elevated circul... ORPHA:97214
Malignant Hyperthermia Of Anesthesia
Supraventricular tachycardia, High-output congestive heart failure, Premature ventricular contrac... ORPHA:423
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Hyperbilirubinemia, Tachycardia, Arrhythmia, Hypotension, Tachypnea, Elev... ORPHA:542323
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Skeletal muscle hypertrophy, Proximal muscle weakness in lower li... OMIM:619566
Chronic Thromboembolic Pulmonary Hypertension
Elevated circulating C-reactive protein concentration, Reduced vital capacity, Right bundle branc... ORPHA:70591
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Pulmonary insufficiency, Maternal diabetes... ORPHA:70588
Interstitial Lung Disease 2
Decreased DLCO, Cough, Exertional dyspnea, Dyspnea, Pulmonary arterial hypertension OMIM:178500
Polycythemia Vera
Budd-Chiari syndrome, Cerebral hemorrhage, Increased hematocrit, Splenomegaly, Leukocytosis, Cere... OMIM:263300
Meckel Syndrome, Type 7
Atrial septal defect, Aortic valve stenosis, Right ventricular hypertrophy, Hepatosplenomegaly, M... OMIM:267010
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hypokalemia, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Elevated alph... OMIM:613095
Nephronophthisis 2
Nephronophthisis, Chronic tubulointerstitial nephritis, Absence of renal corticomedullary differe... OMIM:602088
Rhabdoid Tumor
Renal neoplasm, Respiratory insufficiency, Hematuria, Internal hemorrhage, Hypercalcemia, Hyperte... ORPHA:69077
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Sudden cardiac death, Prolonged QTc interval, Syncope, V... OMIM:603830
Lipodystrophy, Familial Partial, Type 6
Hyperlipidemia, Abnormal circulating lipid concentration, Muscular dystrophy, Elevated circulatin... OMIM:615980
Pituitary Gigantism
Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... ORPHA:99725
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612925
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Atrial septal defect, Paroxysmal atrial tachycardia, Ventricular septal def... ORPHA:49827
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Flexion contracture, Abnormality of the kidney, Decreased serum iron, Hypothyroidism, Diabetes me... ORPHA:391372
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Diabetic ketoacidosis, Increased C-peptide level, Decreased serum leptin, Hypertrig... OMIM:615238
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Apical hypertrophic cardiomyopathy, Ventricular hypertrophy, Atri... OMIM:613690
Grange Syndrome
Ventricular septal defect, Hypertension, Aortic regurgitation ORPHA:79094
Acquired Methemoglobinemia
Respiratory distress, Methemoglobinemia, Palpitations, Tachycardia, Arrhythmia, Syncope, Hypoxemi... ORPHA:464453
Sneddon Syndrome
Bicuspid aortic valve, Lymphopenia, Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Atrial Septal Defect 9
Bicuspid aortic valve, Pulmonary arterial hypertension, Secundum atrial septal defect OMIM:614475
Danon Disease
Myocardial fibrosis, Wolff-Parkinson-White syndrome, Myocardial necrosis, EMG: myopathic abnormal... OMIM:300257
Sinoatrial Node Dysfunction And Deafness
Bradycardia, Increased heart rate variability, Abnormal QRS complex, Syncope OMIM:614896
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Left bundle branch block, First degree atrioventricular block, Right ventricular dilatation, Vent... OMIM:615616
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612922
Infant Acute Respiratory Distress Syndrome
Tachycardia, Hypotension, Tachypnea, Respiratory failure, Pneumonia, Hypoxemia, Cardiac arrest, N... ORPHA:70587
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Nephronophthisis, Stage 5 chronic kidney disease ORPHA:3156
Coenzyme Q10 Deficiency, Primary, 2
Mitral regurgitation, Aortic regurgitation, Pulmonary arterial hypertension OMIM:614651
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Ragged-red muscle fibers, Dilated cardiomyopathy, Dyspnea, Hypertension... ORPHA:1349
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Cardiac arrest, Premature ventricular contraction, Polymorphic ventricular tachycardia, Syncope, ... OMIM:615441
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Ventricular preexcitation, Arrhythmia, Myopathy ORPHA:104
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Hepatomegaly, Hypoxemia, Splenomegaly, Restrictive ventilatory defect, Emphysema,... OMIM:612387
Neuroleptic Malignant Syndrome
Elevated circulating alkaline phosphatase concentration, Proteinuria, Hyperuricemia, Tachycardia,... ORPHA:94093
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Tachycardia, Elevated carcinoembryonic antigen level, Acute infec... ORPHA:264675
C3 Glomerulopathy
Chronic kidney disease, Nephrotic syndrome, Mesangial hypercellularity, Membranoproliferative glo... ORPHA:329918
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Hematuria, Elevated circulating... OMIM:612926
Cardiac Diverticulum
Tricuspid atresia, Angina pectoris, Tricuspid stenosis, Ventricular septal defect, Abnormal heart... ORPHA:1686
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Reduced muscle carnitine level, Hyperammonemia, Endocardial fibroelastosis, Decreas... OMIM:212140
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Denys-Drash Syndrome
Nephrotic syndrome, Nephroblastoma, Nephropathy, Proteinuria, Hypertension ORPHA:220
Stiff-Person Syndrome
Asymmetric limb muscle stiffness, Tachycardia, Axial muscle stiffness, Proximal limb muscle stiff... OMIM:184850
Hemochromatosis, Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Splenomegaly, Hyp... OMIM:235200
Lipodystrophy, Familial Partial, Type 4
Hypertriglyceridemia, Hypertension, Insulin-resistant diabetes mellitus, Skeletal muscle hypertrophy OMIM:613877
Limited Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Mucosal telangiectasiae, Joint contracture of the hand, Foot joint co... ORPHA:220402
Hyperinsulinism Due To Hnf4A Deficiency
Hypophosphatemic rickets, Hyperinsulinemia, Hepatomegaly, Hyperinsulinemic hypoglycemia, Abnormal... ORPHA:263455
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Elevated circulating alkaline phosphatase concent... OMIM:616833
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Brugada Syndrome 1
Sudden cardiac death, Syncope, Supraventricular tachycardia with an accessory connection mediated... OMIM:601144
Moyamoya Disease 6 With Or Without Achalasia
Hypertension, Ischemic stroke, Raynaud phenomenon OMIM:615750
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Congestive heart failure OMIM:300886
Hurler-Scheie Syndrome
Hepatomegaly, Splenomegaly, Mitral regurgitation, Contracture of the distal interphalangeal joint... OMIM:607015
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Flexion contracture, Oliguria, Renal insufficiency, Hypertensive cris... ORPHA:220393
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Melena, Decreased glomerular filtration rate, Hematuria, Hyperkalemia, Elev... ORPHA:340
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Mildly reduced left ventricular ejection fraction, Right ventricular outle... ORPHA:99094
Pulmonary Hypertension, Primary, 4
Elevated pulmonary artery pressure, Pulmonary arterial hypertension with lack of acute response t... OMIM:615344
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia ORPHA:276608
Atrial Fibrillation, Familial, 14
Prolonged PR interval, Hypertension, Paroxysmal atrial fibrillation, ST segment elevation OMIM:615378
Carnitine Palmitoyltransferase I Deficiency
Renal tubular acidosis, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase concen... OMIM:255120
Schimke Immuno-Osseous Dysplasia
Abnormal proportion of naive CD4 T cells, Proteinuria, Transient ischemic attack, Stage 5 chronic... ORPHA:1830
Lipodystrophy, Familial Partial, Type 1
Hypertriglyceridemia, Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus OMIM:608600
Naxos Disease
Prolonged QRS complex, Congestive heart failure, Premature ventricular contraction, Right ventric... OMIM:601214
Left Ventricular Noncompaction 8
Left ventricular noncompaction, Mitral regurgitation, Arrhythmia, Dilated cardiomyopathy, Left ve... OMIM:615373
Naxos Disease
Sudden cardiac death, Paroxysmal ventricular tachycardia, Arrhythmia, Cardiomyopathy, Congestive ... ORPHA:34217
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Hyperammonemia, Elevated circulating creatine kinase conc... ORPHA:42
Schimke Immunoosseous Dysplasia
Nephrotic syndrome, Abnormal T cell morphology, Lymphopenia, Neutropenia, Anemia, Cerebral ischem... OMIM:242900
Cardiomyopathy, Familial Hypertrophic, 13
Angina pectoris, Left anterior fascicular block, ST segment depression, Concentric hypertrophic c... OMIM:613243
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Tricuspid regurgitation, Muscular ventricular sep... ORPHA:439
Cirrhosis, Familial
Fulminant hepatitis, Increased level of L-fucose in urine, Increased level of propylene glycol in... OMIM:215600
Mercury Poisoning
Respiratory distress, Hypokalemia, Interstitial pneumonitis, Tachycardia, Hypotension, Acute kidn... ORPHA:330021
Cocaine Intoxication
Supraventricular arrhythmia, Respiratory distress, Subarachnoid hemorrhage, Hematuria, Myocardial... ORPHA:90068
Timothy Syndrome
Hypocalcemia, Tetralogy of Fallot, Ventricular septal defect, Hypothyroidism, Patent foramen oval... OMIM:601005
Tetanus
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Tachypnea,... ORPHA:3299
Alagille Syndrome 2
Renal tubular acidosis, Atrial septal defect, Pulmonic stenosis, Hematuria, Tetralogy of Fallot, ... OMIM:610205
Polyarteritis Nodosa
Elevated circulating C-reactive protein concentration, Raynaud phenomenon, Abnormality of the kid... ORPHA:767
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Premature ventricular contraction, Syncope OMIM:192445
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Left bundle branch block, Myofiber disarra... OMIM:600858
Multicentric Carpotarsal Osteolysis Syndrome
Bilateral renal atrophy, Congenital diaphragmatic hernia, Proteinuria, Renal insufficiency, Hyper... OMIM:166300
Noonan Syndrome 8
Atrial septal defect, Pulmonic stenosis, Left ventricular hypertrophy, Mitral regurgitation, Vent... OMIM:615355
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Hepatomegaly, Heart murmur, Transient ischemic attack, Respiratory failure,... ORPHA:365
Pheochromocytoma
Renal artery stenosis, Positive regitine blocking test, Cerebral hemorrhage, Tachycardia, Pheochr... OMIM:171300
Refsum Disease, Classic
Abnormal renal physiology, Arrhythmia, Limb muscle weakness, Elevated levels of phytanic acid, Ca... OMIM:266500
Total Anomalous Pulmonary Venous Return 1
Dextrocardia, Total anomalous pulmonary venous return, Pulmonary arterial hypertension OMIM:106700
Sepsis In Premature Infants
Decreased liver function, Hepatomegaly, Elevated circulating C-reactive protein concentration, Le... ORPHA:90051
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Decreased glomerular filtration rate, Renal interstitial amyloid deposits, Elevated... ORPHA:85450
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Congestive heart failure, Atrial septal defect, Aort... ORPHA:363705
Jervell And Lange-Nielsen Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval OMIM:220400
Cardiomyopathy, Dilated, 1A
Sudden cardiac death, Ventricular arrhythmia, Third degree atrioventricular block, Dilated cardio... OMIM:115200
Infantile Sialic Acid Storage Disease
Nephrotic syndrome, Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Conjugated hyperbilirubin... OMIM:269920
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Renal salt wasting OMIM:201910
Congenitally Corrected Transposition Of The Great Arteries
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... ORPHA:216694
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Nephropathy ORPHA:820
Tropical Endomyocardial Fibrosis
Pulmonary venous hypertension, Hepatomegaly, Systolic heart murmur, Decreased QRS voltage, Reduce... ORPHA:75565
Glycogen Storage Disease Ii
Hepatomegaly, Subarachnoid hemorrhage, Limb muscle weakness, Cardiomegaly, Increased muscle glyco... OMIM:232300
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Airway obstruction, Heparan sulfate excretion in urine, Enlarged kidney, Th... ORPHA:505248
Polycythemia Vera
Angina pectoris, Intermittent claudication, Budd-Chiari syndrome, Hepatomegaly, Splenomegaly, Res... ORPHA:729
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral regurgitation, Mitral valve prolapse, Polycystic kidney dysplasia, Renal insufficiency, Hy... OMIM:173900
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism OMIM:603373
Hereditary Hemorrhagic Telangiectasia
Nephrolithiasis, Telangiectasia of the skin, Mucosal telangiectasiae, Cerebral hemorrhage, Hepati... ORPHA:774
Familial Thrombocytosis
Chronic myelogenous leukemia, Splenomegaly, Cerebral ischemia, Syncope, Thrombocytosis, Transient... ORPHA:71493
Glycogen Storage Disease Of Heart, Lethal Congenital
Congestive heart failure, Macroglossia, Hypotension, Shortened PR interval, Biventricular hypertr... OMIM:261740
Riboflavin Transporter Deficiency
Sleep apnea, Respiratory insufficiency, Limb muscle weakness, Hypogonadism, Hypertension, Facial ... ORPHA:97229
Myopathy, Myofibrillar, 1
Restrictive cardiomyopathy, EMG: myopathic abnormalities, Third degree atrioventricular block, Di... OMIM:601419
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Elevated circulating alkaline phosphatase concentration, Raynaud phenomenon, Hypertension, Weakne... ORPHA:247691
Hyperaldosteronism, Familial, Type I
Decreased circulating renin level, Abnormality of the urinary system, Adrenal hyperplasia, Adreno... OMIM:103900
Hydroxykynureninuria
Renal tubular acidosis, Tachycardia, Hypotension, Abnormal circulating tryptophan concentration, ... ORPHA:79155
Juvenile Neuronal Ceroid Lipofuscinosis
Apnea, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Aspiration pneumonia, Tachycardia, ... ORPHA:79264
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Recurrent pneumonia OMIM:616069
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Torsade de pointes, Sudden cardiac death, Polymorp... OMIM:115000
Methanol Poisoning
Permanent atrial fibrillation, Type II diabetes mellitus, Hyperlipidemia, Cerebral hemorrhage, In... ORPHA:31825
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Dehydrated Hereditary Stomatocytosis
Increased circulating ferritin concentration, Anemia of inadequate production, Pulmonary venous h... ORPHA:3202
Primary Lipodystrophy
Angina pectoris, Type II diabetes mellitus, Hyperlipidemia, Splenomegaly, Skeletal muscle hypertr... ORPHA:90970
Lysosomal Acid Lipase Deficiency
Elevated circulating alkaline phosphatase concentration, Hepatic failure, Jaundice, Abnormal urin... ORPHA:275761
Systemic Mastocytosis With Associated Hematologic Neoplasm
Hepatomegaly, Neutrophilia, Abnormal mast cell morphology, Splenomegaly, Leukocytosis, Myeloproli... ORPHA:98849
Myotonic Dystrophy 2
Type II diabetes mellitus, Premature ventricular contraction, Type 2 muscle fiber atrophy, Palpit... OMIM:602668
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Hypocalcemia, Hypoplastic left heart, Pulmonic... ORPHA:3426
Fanconi Renotubular Syndrome 5
Hypophosphatemic rickets, Hypophosphatemia, Aminoaciduria, Glycosuria, Decreased DLCO, Tubulointe... OMIM:618913
Pediatric-Onset Graves Disease
Graves disease, Hepatomegaly, Neutropenia in presence of anti-neutropil antibodies, Sinus tachyca... ORPHA:525731
Acute Intermittent Porphyria
Dark urine, Dysuria, Abnormal enzyme/coenzyme activity, Respiratory paralysis, Proximal muscle we... ORPHA:79276
Gaucher Disease Type 1
Hepatomegaly, Splenomegaly, Leukopenia, Hematuria, Thrombocytopenia, Pancytopenia, Abnormal myoca... ORPHA:77259
Cardiomyopathy, Dilated, 1Y
Left ventricular noncompaction cardiomyopathy, Mitral regurgitation, Increased left ventricular e... OMIM:611878
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Hyperglycinemia, Pulmonary arterial hypertension OMIM:619059
Frasier Syndrome
Nephrotic syndrome, Streak ovary, Hypergonadotropic hypogonadism, Nephroblastoma, Focal segmental... ORPHA:347
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Sudden cardiac death, Premature ventricular contraction, Right ventricular cardiomyopathy OMIM:604401
Coach Syndrome 2
Hyperechogenic kidneys, Apneic episodes in infancy, Elevated hepatic transaminase, Elevated circu... OMIM:619111
Non-Functioning Paraganglioma
Hypertension associated with pheochromocytoma, Positive regitine blocking test, Cerebral hemorrha... ORPHA:94080
Serotonin Syndrome
Hepatic failure, Tachycardia, Hypotension, Tachypnea, Rhabdomyolysis, Acute kidney injury, Hypert... ORPHA:43116
Crimean-Congo Hemorrhagic Fever
Melena, Hepatomegaly, Hemoperitoneum, Subdural hemorrhage, Hepatic failure, Hemothorax, Neutrophi... ORPHA:99827
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypospadias, Pulmonary arterial hypertension, Skeletal muscle atrophy, Brad... OMIM:619272
Severe Neurodegenerative Syndrome With Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Hypertriglyceridemia, Hypertension, Respiratory failure, Myopathy ORPHA:363400
Scimitar Syndrome
Tricuspid atresia, Respiratory distress, Anomalous pulmonary venous return, Ventricular septal de... ORPHA:185
Nephronophthisis 1
Renal tubular atrophy, Nephronophthisis, Anemia, Polyuria, Hyposthenuria, Tubulointerstitial fibr... OMIM:256100
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Hepatomegaly, Episodic tachypnea, Abnormal enzyme/coenzyme activity, Tachyc... ORPHA:348
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cerebral hemorrhage, Decreased response to growth hormone stimulation test, Hypergonadotropic hyp... ORPHA:280679
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Right ventricular hypertrophy, Ventricular septal defect, Patent foramen ov... OMIM:614261
Lipodystrophy, Congenital Generalized, Type 4
Hyperinsulinemia, Hepatomegaly, Flexion contracture, Splenomegaly, Skeletal muscle hypertrophy, M... OMIM:613327
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Hepatosplenomegaly, Crackles, Heart murmur, Cough, Iron deficiency anemia, Restrict... ORPHA:99931
Arterial Calcification, Generalized, Of Infancy, 1
Hypophosphatemic rickets, Renal artery stenosis, Myocardial infarction, Dilated cardiomyopathy, N... OMIM:208000
Mucopolysaccharidosis, Type X
Nephrolithiasis, Aortic valve stenosis, Left ventricular hypertrophy, Thickened aortic valve cusp... OMIM:619698
Braddock Syndrome
Neonatal respiratory distress, Unilateral renal agenesis, Pulmonary arterial hypertension, Congen... ORPHA:52047
Long Qt Syndrome 2
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613688
Ethylene Glycol Poisoning
Renal tubular dysfunction, Episodic respiratory distress, Hypocalcemia, Facial palsy, Tachycardia... ORPHA:31826
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Quadriceps muscle weakness, Reduced left ventricular ejection fraction, Limb mus... ORPHA:254892
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Tachycardia, Syncope OMIM:615821
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Hepatomegaly, Tachycardia, Increased urinary glycerol, Hyperventilation, Dyspnea OMIM:229700
Corticosteroid-Binding Globulin Deficiency
Hypertension, Hypotension OMIM:611489
Antisynthetase Syndrome
Telangiectasia of the skin, Respiratory insufficiency, Elevated circulating creatine kinase conce... ORPHA:81
Pseudoxanthoma Elasticum
Mitral stenosis, Angina pectoris, Intermittent claudication, Restrictive cardiomyopathy, Weak pul... OMIM:264800
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Increased total bilirubin, Autoimmune hemolytic anemia, Exer... ORPHA:90036
Cardiomyopathy, Dilated, 1Nn
Mitral regurgitation, Abnormal ST segment, Ventricular arrhythmia, Increased left ventricular end... OMIM:615916
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Elevated circulating C-reactive protein concentration, Atrioventricular canal defec... OMIM:619573
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myocarditis, Elevated circulating creatinine concentration, Pneumonia, Incr... ORPHA:36234
Carney Triad
Adrenocortical adenoma, Tachycardia, Arrhythmia, Paraganglioma, Pheochromocytoma, Adrenal overact... ORPHA:139411
Multiple Endocrine Neoplasia, Type Iia
Medullary thyroid carcinoma, Parathyroid adenoma, Increased circulating cortisol level, Elevated ... OMIM:171400
Glycogen Storage Disease Ic
Hyperlipidemia, Hepatomegaly, Decreased glomerular filtration rate, Spider hemangioma, Hematuria,... OMIM:232240
Long Qt Syndrome 9
Cardiac arrest, Abnormal U wave, Ventricular arrhythmia, Syncope, Sinus bradycardia, Prolonged QT... OMIM:611818
Romano-Ward Syndrome
Torsade de pointes, Hypokalemia, Abnormal T-wave, Sudden cardiac death, Ventricular arrhythmia, S... ORPHA:101016
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency, Hydronephrosis, An... OMIM:611209
Long Qt Syndrome 6
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Prolonged QT interval,... OMIM:613693
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Atrioventricular block, Hepatomegal... ORPHA:137675
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated circulating acylcarnitine concentration, Torsade de pointes, Ketonuria, Hyperammonemia, ... OMIM:616878
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Splenomegaly, Skeletal muscle hypertrophy, Maternal diabetes, Calf muscle pseudohyp... ORPHA:79083
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy OMIM:614458
Symptomatic Form Of Hemochromatosis Type 1
Increased circulating ferritin concentration, Testicular atrophy, Hepatomegaly, Decreased muscle ... ORPHA:465508
Systemic Lupus Erythematosus 17
Lymphopenia, Raynaud phenomenon, Mitral regurgitation, Leukopenia, Autoimmune thrombocytopenia, H... OMIM:301080
Abdominal Obesity-Metabolic Syndrome 4
Type II diabetes mellitus, Increased LDL cholesterol concentration, Elevated hemoglobin A1c, Decr... OMIM:618620
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Cardiac arrest, Ventricular fibrillation, Ventricular tachycardia OMIM:300952
Familial Hyperaldosteronism Type I
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... ORPHA:403
Familial Hyperaldosteronism Type Ii
Hypokalemia, Intracranial hemorrhage, Adrenal hyperplasia, Abnormal circulating renin, Hypertensi... ORPHA:404
Duodenal Neuroendocrine Tumor
Melena, Hepatic failure, Tricuspid stenosis, Intestinal carcinoid, Right ventricular failure, Pal... ORPHA:100076
Scorpion Envenomation
Glycosuria, Elevated circulating aspartate aminotransferase concentration, Myocarditis, Bundle br... ORPHA:466677
Imerslund-Gräsbeck Syndrome
Megaloblastic anemia, Neutropenia, Tachycardia, Anisopoikilocytosis, Macrocytic anemia, Thrombocy... ORPHA:35858
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Urachus fistula, Cor triatriatum, Splenomegaly, Recurrent urinary tract infections,... OMIM:612541
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Prolonged QRS complex, Ventricular preexcitation with multiple ac... OMIM:194200
Glutaric Aciduria Iii
Glutaric aciduria, Hypertension, Goiter, Hyperthyroidism OMIM:231690
Sudden Cardiac Failure, Infantile
Myocardial fibrosis, Sudden cardiac death, Myocarditis, Hypertrophic cardiomyopathy, Congestive h... OMIM:617222
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypokalemia, Abnormal T-wave, Decreased circulating renin level, Neoplasm of the adrenal gland, I... ORPHA:231625
Eosinophilic Granulomatosis With Polyangiitis
Hematuria, Myocarditis, Myocardial infarction, Proteinuria, Transient ischemic attack, Recurrent ... ORPHA:183
Keutel Syndrome
Ventricular septal defect, Pulmonary arterial hypertension, Recurrent sinusitis ORPHA:85202
Alstrom Syndrome
Hyperinsulinemia, Hepatomegaly, Chronic active hepatitis, Hypergonadotropic hypogonadism, Hyperur... OMIM:203800
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Arrhythmia, Bradycardia OMIM:617182
Renal Hypoplasia
Chronic kidney disease, Abnormal renal tubule morphology, Unilateral renal agenesis, Abnormality ... ORPHA:93101
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Truncus Arteriosus
Abnormal heart valve physiology, Adrenocortical abnormality, Atrial septal defect, Right ventricu... ORPHA:3384
Familial Isolated Restrictive Cardiomyopathy
Supraventricular arrhythmia, Right atrial enlargement, Abnormal left ventricular function, Hepato... ORPHA:75249
Tularemia
Respiratory distress, Leukocytosis, Tachycardia, Cough, Pleural effusion, Pneumonia, Anemia, Thro... ORPHA:3392
Adrenocortical Carcinoma
Paradoxical increased cortisol secretion on dexamethasone suppression test, Adrenocorticotropic h... ORPHA:1501
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Type I diabetes mellitus, Anterior hypopituitarism ORPHA:181
Acute Interstitial Pneumonia
Elevated circulating C-reactive protein concentration, Hypoxemia, Nonproductive cough, Crackles, ... ORPHA:79126
Chronic Atrial And Intestinal Dysrhythmia
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... OMIM:616201
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Ganglioneuroma
Neoplasm of the adrenal gland, Central hypoventilation, Abnormality of the adrenal glands, Gastro... ORPHA:251992
Paroxysmal Nocturnal Hemoglobinuria
Hemoglobinuria, Glycosuria, Myocardial infarction, Proteinuria, Reduced haptoglobin level, Pancyt... ORPHA:447
Jervell And Lange-Nielsen Syndrome
Torsade de pointes, Arrhythmia, Prolonged QTc interval, Syncope, Iron deficiency anemia, Ventricu... ORPHA:90647
Gaucher Disease Type 3
Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcification, Hematuria, Th... ORPHA:77261
Melas
Type I diabetes mellitus, Proteinuria, Proximal tubulopathy, Hypoparathyroidism, Concentric hyper... ORPHA:550
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Decreased glomerular filtration rate, Anemia, Impaired renal uric acid cle... OMIM:174000
Mixed Connective Tissue Disease
Hepatomegaly, Splenomegaly, Leukopenia, Nephropathy, Myositis, Myocarditis, Hemolytic anemia, Dys... ORPHA:809
Combined Oxidative Phosphorylation Deficiency 54
Hypergonadotropic hypogonadism, Tachycardia, Lower limb muscle weakness OMIM:619737
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aorti... ORPHA:210122
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hypokalemia, Hyperthyroidism, Tachycardia, Goiter OMIM:613239
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Urinary excretion of sialylated oligosacchari... OMIM:256550
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Muscular dystrophy, Arrhythmia, Bradycardia, Atrial fibrillation, Proximal amyotrophy OMIM:614302
Seckel Syndrome 10
Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level, Glycosuria, Elevated cir... OMIM:617253
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Central apnea, Pulmonary arterial hypertension, Sleep apnea, Congestive heart failure OMIM:616482
Extracranial Carotid Artery Aneurysm
Subarachnoid hemorrhage, Upper limb muscle weakness, Vasculitis, Cerebral ischemia, Total anomalo... ORPHA:494424
Familial Pseudohyperkalemia
Increased mean corpuscular volume, Episodic hemolytic anemia, Stomatocytosis, Hypertension, Retic... ORPHA:90044
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Abnormality of the endocrine system, Renal artery stenosis, Lymphopenia, Neutropenia in presence ... ORPHA:391487
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Muscle fiber atrophy, Flexion contracture, Absent muscle fiber merosin, Macroglossia, Muscular dy... ORPHA:258
Hemangioma-Thrombocytopenia Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia, Ventricular arrhythmia, Hyperkalemia OMIM:141000
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Renal insufficiency, Decreased glomerular filtration rate, Stage 5 chronic kidney d... OMIM:618061
Scleroderma
Chronic kidney disease, Transient ischemic attack, Intestinal bleeding, Flexion contracture, Rayn... ORPHA:801
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Alport Syndrome 2, Autosomal Recessive
Nephrotic syndrome, Nephritis, Hematuria, Thickened glomerular basement membrane, Proteinuria, Re... OMIM:203780
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Polycystic kidney dysplasia, Decreased liver function OMIM:600666
Congenital Tracheomalacia
Apnea, Decreased peak expiratory flow, Ventricular septal defect, Pneumonia, Cardiomegaly, Abnorm... ORPHA:95430
Coenzyme Q10 Deficiency, Primary, 7
Respiratory insufficiency, Hypertrophic cardiomyopathy, Hypoplastic left heart, Bradycardia OMIM:616276
Long Qt Syndrome 1
Torsade de pointes, Sudden cardiac death, Prolonged QTc interval, Syncope, Ventricular fibrillati... OMIM:192500
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Apnea, Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ve... OMIM:612949
Cholera
Hypokalemia, Hypocalcemia, Abnormality of renal excretion, Hypovolemic shock, Aspiration pneumoni... ORPHA:173
Cryoglobulinemia, Familial Mixed
Chronic kidney disease, Abnormal renal physiology, Hematuria, Elevated circulating creatinine con... OMIM:123550
Porphyria, Acute Intermittent
Dysuria, Respiratory paralysis, Tachycardia, Elevated urinary delta-aminolevulinic acid, Urinary ... OMIM:176000
Histiocytosis-Lymphadenopathy Plus Syndrome
Flexion contracture of finger, Hepatomegaly, Hypergonadotropic hypogonadism, Ventricular septal d... OMIM:602782
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Muscular dystrophy, Elevated circulating creatine kinase concentrat... OMIM:613153
Simple Cryoglobulinemia
Abnormal heart morphology, Nephrotic syndrome, Mesangial hypercellularity, Nephritis, Viral hepat... ORPHA:91139
Kagami-Ogata Syndrome
Diastasis recti, Atrial septal defect, Hepatomegaly, Flexion contracture, Splenomegaly, Pulmonic ... OMIM:608149
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Left ventricular hypertrophy, Facial palsy, Scapular winging, R... ORPHA:169186
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Atrial septal defect, Micropenis, Congenital hypothyroidism, Ventricular se... ORPHA:2519
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Respiratory arrest, Hyperammonemia, Sudden cardiac death, Elevated circulating crea... OMIM:201475
Wild Type Attr Amyloidosis
Nephrotic syndrome, Hepatomegaly, Elevated circulating alkaline phosphatase concentration, Orthos... ORPHA:330001
Acquired Generalized Lipodystrophy
Hyperinsulinemia, Hepatomegaly, Abnormal circulating lipid concentration, Calf muscle pseudohyper... ORPHA:79086
Pulmonary Hypertension, Primary, 2
Pulmonary arterial hypertension, Abnormally loud pulmonic component of the second heart sound, In... OMIM:615342
Yellow Nail Syndrome
Sinusitis, Rhinitis, Renal neoplasm, Nephropathy, Cough, Bronchiectasis, Dyspnea, Pulmonary arter... ORPHA:662
Jervell And Lange-Nielsen Syndrome 2
Torsade de pointes, Premature ventricular contraction, Sudden cardiac death, Syncope, Prolonged Q... OMIM:612347
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Intracranial hemorrhage, Stress urinary incontinence, Cerebral ischemia, Lac... ORPHA:136
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Hydronephrosis, Urethral obstruction, Hy... ORPHA:2704
Atrial Fibrillation, Familial, 18
Permanent atrial fibrillation, Palpitations, Third degree atrioventricular block, Bradycardia, Pa... OMIM:617280
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Absence of renal corticomedullary differentiation, Splenomegaly, Enlarged kidney, T... OMIM:263200
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Brain-Lung-Thyroid Syndrome
Hypoparathyroidism, Abnormal cardiac septum morphology, Respiratory distress, Abnormality of the ... ORPHA:209905
Cardiogenic Shock