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Gene: Nppa MGI:97367

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Not currently registered for phenotyping at IMPC

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

Gene Summary

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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Nppa mutations

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypertension, Essential
Elevated mean arterial pressure, Elevated systolic blood pressure, Elevated diastolic blood pressure OMIM:145500
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Trimethylaminuria
Tachycardia, Trimethylaminuria, Splenomegaly, Recurrent pneumonia, Hypertension, Neutropenia, Anemia OMIM:602079
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Atrial Fibrillation, Familial, 6
Atrial fibrillation, Elevated left ventricular end-diastolic diameter, Left atrial enlargement, R... OMIM:612201
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Muscle Filaminopathy
Extremely elevated creatine kinase, Scapular winging, Left ventricular diastolic dysfunction, Fat... ORPHA:171445
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement, Sudden cardiac... OMIM:115210
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Cardiomyopathy, Familial Hypertrophic, 8
Cardiac arrest, Sudden cardiac death, Left atrial enlargement, Congestive heart failure, T-wave i... OMIM:608751
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ... OMIM:612158
Cardiomyopathy, Familial Hypertrophic, 25
Wolff-Parkinson-White syndrome, Hypertrophic cardiomyopathy, Left ventricular hypertrophy OMIM:607487
His Bundle Tachycardia
Junctional ectopic tachycardia, Cardiomyopathy, Arrhythmia, Neoplasm of the heart ORPHA:3283
Peripartum Cardiomyopathy
Crackles, Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnorm... ORPHA:563
Glycogen Storage Disease 0, Muscle
Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen content, Left atrial enla... OMIM:611556
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Right ventricular cardiomyopathy, Sudden cardiac death, Dyspnea, Syncope, Palpitations, Ventricul... OMIM:610476
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602087
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Hepatomegaly, Hyperalaninemia, Increased urine succinate level, Apnea, E... OMIM:619048
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
Pulmonary Hypertension, Primary, 5
Angina pectoris, Right ventricular failure, Exertional dyspnea, Syncope, Pulmonary arterial hyper... OMIM:265400
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Diabetes mellitus, Congestive heart failure, Ragged-red muscle fi... OMIM:540000
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Coproporphyria, Hereditary
Hepatomegaly, Tachycardia, Splenomegaly, Jaundice, Hypertension, Increased urinary porphobilinoge... OMIM:121300
Intracranial Hypertension, Idiopathic
Hypertension OMIM:243200
Cardiomyopathy, Familial Hypertrophic, 20
Reduced left ventricular ejection fraction, Hypertrophic cardiomyopathy, Atrial fibrillation, Lef... OMIM:613876
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Elevated circulating creatine kinase concentration, Congestive heart failure, Quadriceps muscle w... ORPHA:206546
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bundle branch block, Asymmetric sept... OMIM:608758
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
T-wave inversion in the right precordial leads, Right ventricular cardiomyopathy, Ventricular arr... OMIM:602086
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Proteinuria, Thrombocytopenia OMIM:189800
Cardiomyopathy, Familial Hypertrophic, 11
Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Dyspnea, Ventricular t... OMIM:612098
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Elevated circulating creatine kinase concentration, Cardiomegaly, Cong... OMIM:604765
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... 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
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death OMIM:107970
Polycystic Kidney Disease 7
Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Hypertension, Multiple renal ... OMIM:620056
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Elevated circula... ORPHA:353
Attrv122I Amyloidosis
Abnormal EKG, Increased circulating NT-proBNP concentration, Angina pectoris, Abnormal atrioventr... ORPHA:85451
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Idiopathic/Heritable Pulmonary Arterial Hypertension
Hepatomegaly, Tricuspid regurgitation, Dyspnea, Abnormal cardiovascular system physiology, Heart ... ORPHA:422
Congenitally Uncorrected Transposition Of The Great Arteries
Cardiac shunt, Maternal diabetes, Cardiomegaly, Tachypnea, Dextrotransposition of the great arter... ORPHA:860
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn... ORPHA:275766
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Tachypnea, Abnormal left ventricula... ORPHA:2041
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrillation, Atrial... OMIM:613874
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Cardiomyopathy, Dilated, 2C
Reduced left ventricular ejection fraction, Pulmonary arterial hypertension, Dilated cardiomyopathy OMIM:618189
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Incr... OMIM:601494
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
Congenital Gerbode Defect
Elevated right atrial pressure, Tricuspid regurgitation, Left-to-right shunt, Ventricular septal ... ORPHA:99095
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Glomerulopathy With Fibronectin Deposits 2
Renal insufficiency, Glomerular deposits, Proteinuria, Glomerulomegaly, Stage 5 chronic kidney di... OMIM:601894
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... ORPHA:45453
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Elevated circulating creatinine concentration, Hyperte... OMIM:616733
Glomerulopathy With Fibronectin Deposits 1
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... OMIM:137950
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Coronary Artery Disease, Autosomal Dominant, 1
Hypertension, Diabetes mellitus, Hypercholesterolemia, Myocardial infarction OMIM:608320
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Respira... OMIM:255100
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... OMIM:102200
Myofibrillar Myopathy 10
Elevated circulating creatine kinase concentration, Ankle flexion contracture, Elbow flexion cont... OMIM:619040
Cirrhotic Cardiomyopathy
Increased circulating NT-proBNP concentration, Cardiomegaly, Global systolic dysfunction, Hepatom... ORPHA:57777
Acute Peripheral Arterial Occlusion
Myocardial infarction, Abnormal capillary physiology, Leukocytosis, Absent ankle pulse, Supravent... ORPHA:90064
Heparin-Induced Thrombocytopenia
Myocardial infarction, Autoimmune thrombocytopenia, Pulmonary embolism, Cerebral ischemia, Increa... ORPHA:3325
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... OMIM:604772
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... OMIM:617021
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Nephropathy, Proteinuria ORPHA:2820
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Fabry Disease
Renal insufficiency, Angina pectoris, Transient ischemic attack, Myocardial infarction, Proteinur... OMIM:301500
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Congestive heart failure, Severely reduced left ventricular eject... ORPHA:444013
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Elevated circulating creatine kinase concentration, Centrally nucleated ske... ORPHA:86812
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Ventricular tachycardia, Upper limb mus... ORPHA:263297
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Hype... ORPHA:1345
Primary Membranoproliferative Glomerulonephritis
Renal insufficiency, Proteinuria, Myocardial infarction, Chronic kidney disease, Stage 5 chronic ... ORPHA:54370
Nail-Patella-Like Renal Disease
Glomerulopathy, Renal insufficiency, Proteinuria, Hypertension, Microscopic hematuria ORPHA:2613
Maternally-Inherited Diabetes And Deafness
Glomerulopathy, Renal insufficiency, Proteinuria, Congestive heart failure, Hypertension, Type II... ORPHA:225
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Right ventricular cardiomyopathy, Prolonged QRS complex, Ventricular tachycardia, T-wave inversio... OMIM:611528
Iga Nephropathy, Susceptibility To, 2
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:613944
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension, Thrombocytopenia OMIM:166990
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... OMIM:614954
Polycystic Kidney Disease 5
Stage 5 chronic kidney disease, Hepatosplenomegaly, Hypertension, Polycystic kidney dysplasia, Re... OMIM:617610
Renal Failure, Progressive, With Hypertension
Renal insufficiency, Proteinuria, Elevated circulating creatinine concentration, Stage 5 chronic ... OMIM:161900
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Hypertension, Second degre... OMIM:615474
Iga Nephropathy, Susceptibility To, 3
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, Hypertension,... OMIM:616818
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Hepatomegaly, Abnormal circulating enzyme concentration or activity, Respir... ORPHA:308552
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Myocardial infarction, Vasculit... ORPHA:3287
Cardiomyopathy, Familial Hypertrophic, 12
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... OMIM:612124
Coronary Artery Disease, Autosomal Dominant 2
Hypertriglyceridemia, Sudden cardiac death, Myocardial infarction, Increased LDL cholesterol conc... OMIM:610947
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Hypertension, Paraganglioma OMIM:618464
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hyperalaninemia, Hepatomegaly, Elevated hepatic transaminase, Cardiomegaly, Hyperprolinemia, Pulm... OMIM:619064
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Pneumonia, Cardiomegaly, Hypothyroidism, Ventri... OMIM:601005
Lipoyltransferase 1 Deficiency
Elevated hepatic transaminase, Hyperglutaminemia, Lacticaciduria, Hyperprolinemia, Alaninuria, Br... OMIM:616299
Focal Segmental Glomerulosclerosis 2
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hypertension, Focal segmenta... OMIM:603965
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 2
Lacunar stroke, Hypertension, Transient ischemic attack OMIM:616779
Familial Hyperaldosteronism Type Iii
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... ORPHA:251274
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Tricuspid regurgitation, Congestive heart failure, Splenomega... ORPHA:2414
Congenital Aortic Valve Stenosis
Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aortic valve atresia, Increase... ORPHA:3093
Preeclampsia
Elevated hepatic transaminase, Proteinuria, Abnormality of the kidney, Chronic kidney disease, El... ORPHA:275555
Coenzyme Q10 Deficiency, Primary, 5
Respiratory insufficiency, Bradycardia, Left ventricular hypertrophy, Hyperalaninemia, Decreased ... OMIM:614654
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Mitochondrial Complex I Deficiency, Nuclear Type 35
Elevated urinary 4-hydroxybutyric acid, Neonatal respiratory distress, Lacticaciduria, Hyperproli... OMIM:619003
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
Pulmonary arterial hypertension, Elevated jugular venous pressure, Abnormally loud pulmonic compo... OMIM:265450
Sengers Syndrome
Cardiac arrest, Sudden cardiac death, Respiratory insufficiency, Myopathy, 3-Methylglutaconic aci... OMIM:212350
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Amyloidosis, Familial Visceral
Hepatomegaly, Proteinuria, Splenomegaly, Hematuria, Hypertension, Nephrotic syndrome, Nephropathy OMIM:105200
Variegate Porphyria
Increased urinary porphobilinogen, Tachycardia, Elevated urinary delta-aminolevulinic acid, Porph... OMIM:176200
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Elevated hepatic transaminase, Hepatomegaly, Elevated circulating creatine kinase concentration, ... OMIM:600649
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se... ORPHA:99106
Overlap Myositis
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Abnormal circulating lipi... ORPHA:206572
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hepatomegaly, Tachycardia, Hyperinsulinemia, Decreased circulating free fatty acid level, Syncope... ORPHA:276575
Congenital Fibrinogen Deficiency
Tachycardia, Splenic rupture, Left ventricular hypertrophy, Micropenis, Internal hemorrhage, Righ... ORPHA:335
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Camptodactyly, Pulmonary arterial hypertension, T... OMIM:619751
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Increased circulating brain natriuretic peptide ... OMIM:619747
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypothyroidism, Leukocytosi... ORPHA:90065
Brugada Syndrome
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... ORPHA:130
Combined Oxidative Phosphorylation Deficiency 22
Hyperalaninemia, Congestive heart failure, Pulmonary arterial hypertension OMIM:616045
Cardiomyopathy, Dilated, 1B
Congestive heart failure, Dilated cardiomyopathy, Ventricular arrhythmia, Impaired myocardial con... OMIM:600884
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... OMIM:619371
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Elevated circulating creatine kinase concentration, Flexion contracture, Respirator... OMIM:613156
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Dyspnea, Achilles te... OMIM:615418
Atrial Fibrillation, Familial, 15
Atrial flutter, Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Supraventricu... OMIM:615770
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Abnormal cardiac ventricular function, Tricuspid regurgitation, Paroxysmal atrial f... ORPHA:1677
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Heme Oxygenase 1 Deficiency
Hepatomegaly, Hemolytic anemia, Thrombocytosis, Elevated circulating aspartate aminotransferase c... OMIM:614034
Carnitine-Acylcarnitine Translocase Deficiency
Ventricular hypertrophy, Hepatomegaly, Elevated hepatic transaminase, Dicarboxylic aciduria, Card... OMIM:212138
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Abnormal EKG, Scapular winging, Proximal muscle weakness in upper limbs, Elevated circulating cre... ORPHA:268
Snakebite Envenomation
Hyponatremia, Tachycardia, Epistaxis, Myocardial infarction, Rhabdomyolysis, Intracranial hemorrh... ORPHA:449285
Focal Segmental Glomerulosclerosis 5
Proteinuria, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomerulosclerosis, Mi... OMIM:613237
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypertension, Hypokal... ORPHA:320
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Hyperinsulinemia, Syncope, Type I diabetes mellitus... ORPHA:276580
Cardiomyopathy, Dilated, 1E
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... OMIM:601154
Erythrocytosis, Familial, 1
Cerebral hemorrhage, Myocardial infarction, Splenomegaly, Increased hemoglobin, Increased red blo... OMIM:133100
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Pseudo-Torch Syndrome 3
Apnea, Proteinuria, Cerebral hemorrhage, Cardiomegaly, Increased circulating ferritin concentrati... OMIM:618886
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Diabetes mellitus, Proteinuria, Polyuria, Renal salt wasting, Thrombo... OMIM:613845
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Renal insufficiency, Proteinuria, Hematuria, Hypertension, Focal segmental glomerulosclerosis OMIM:607832
Relapsing Fever
Elevated hepatic transaminase, Tachycardia, Neutrophilia, Epistaxis, Elevated circulating C-react... ORPHA:91547
Hyperinsulinism Due To Ucp2 Deficiency
Hepatomegaly, Tachycardia, Decreased circulating free fatty acid level, Syncope, Palpitations, Hy... ORPHA:276556
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... OMIM:614021
Cardiomyopathy, Dilated, 1Ii
Increased left ventricular end-diastolic volume, Elevated circulating creatine kinase concentrati... OMIM:615184
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Congestive heart failure, Nephrocal... OMIM:614473
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Elevated cir... OMIM:616974
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Elevated hepatic transaminase, Left ventricular hypertrophy, Left atrial... OMIM:300280
Morbid Obesity And Spermatogenic Failure
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Myocardial infarction, Congestive ... OMIM:615703
Gaucher Disease, Type I
Hepatomegaly, Pancytopenia, Epistaxis, Hypersplenism, Splenomegaly, Dyspnea, Thrombocytopenia, Hy... OMIM:230800
Catecholaminergic Polymorphic Ventricular Tachycardia
Syncope, Ventricular tachycardia, Sudden cardiac death ORPHA:3286
Congenital Tricuspid Valve Dysplasia
Hepatomegaly, Respiratory failure requiring assisted ventilation, Tricuspid regurgitation, Cardio... ORPHA:555874
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Pneumonia, Elevated circulating creatine ... OMIM:253700
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia OMIM:611938
Iga Nephropathy, Susceptibility To, 1
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Hypertension, Nephritis, IgA deposition i... OMIM:161950
Congenital Disorder Of Glycosylation, Type It
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Decreased serum insulin-like growth fac... OMIM:614921
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Epistaxis, Abnormal circ... ORPHA:369929
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Tachycardia, Elevated circulating creatine kinase concentrat... ORPHA:368
Long Qt Syndrome 15
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... OMIM:616249
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Type I diabetes mellitus, Abnormal mitral valve mo... ORPHA:1192
Liddle Syndrome
Renal insufficiency, Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Arrhythmia ORPHA:526
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Maternal diabetes, Tach... ORPHA:45452
Hyperinsulinism Due To Hnf1A Deficiency
Hepatomegaly, Tachycardia, Maternal diabetes, Maturity-onset diabetes of the young, Hyperinsuline... ORPHA:324575
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Right ventricular cardiomyopathy, Sudden cardiac death, Ventricular tachycardia, Premature ventri... OMIM:610193
Fibronectin Glomerulopathy
Glomerulopathy, Renal insufficiency, Proteinuria, Cerebral hemorrhage, Hypertension, Nephrotic sy... ORPHA:84090
Danon Disease
Wolff-Parkinson-White syndrome, Myocardial necrosis, Elevated circulating creatine kinase concent... OMIM:300257
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Congenital Myopathy 5 With Cardiomyopathy
Elevated circulating creatine kinase concentration, Sudden cardiac death, Centrally nucleated ske... OMIM:611705
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Erythrocytosis, Familial, 2
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Increased hematocrit, H... OMIM:263400
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90037
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Dyspnea, Pulmonary arterial hypertension, Decreased DLCO, Cough OMIM:234810
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Elevated hepatic iron concentration, Erythroid hyperplasia, Hypothy... ORPHA:231222
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hyperalaninemia, Tricuspid regurgitation, Cardiomegaly, Hyperammonemia, ... OMIM:619051
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Flexion contracture, Interphalangeal thumb joint contract... OMIM:613870
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
3-hydroxydicarboxylic aciduria, Elevated hepatic transaminase, Elevated circulating dodecanoylcar... OMIM:619355
Aapoaiv Amyloidosis
Left bundle branch block, Sinus bradycardia, Chronic pulmonary obstruction, Elevated circulating ... ORPHA:439232
Combined Oxidative Phosphorylation Deficiency 33
Elevated hepatic transaminase, Hepatomegaly, Cardiac arrest, Elevated circulating creatine kinase... OMIM:617713
Focal Segmental Glomerulosclerosis 1
Proteinuria, Hyperlipidemia, Stage 5 chronic kidney disease, Hypertension, Focal segmental glomer... OMIM:603278
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Phosphoribosylpyrophosphate Synthetase Superactivity
Renal insufficiency, Hypertension, Cardiomyopathy, Hyperuricemia, Arrhythmia ORPHA:3222
Antithrombin Iii Deficiency
Arterial occlusion, Pulmonary embolism OMIM:613118
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Tangier Disease
Decreased circulating apolipoprotein A-I concentration, Hepatomegaly, Decreased HDL cholesterol c... OMIM:205400
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Apnea, Respiratory insufficiency, Left ventricular hypertrophy, Hypertro... OMIM:618228
Atrial Standstill 1
Ventricular escape rhythm, Atrial cardiomyopathy, Paroxysmal atrial fibrillation, First degree at... OMIM:108770
Cln3 Disease
Vacuolated lymphocytes, Increased circulating androgen concentration, T-wave inversion, Bradycard... ORPHA:228346
Lessel-Kubisch Syndrome
Hypertension, Renal insufficiency, Hypogonadism, Renal hypoplasia OMIM:618681
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Malignant Hyperthermia, Susceptibility To, 1
Tachycardia, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Hy... OMIM:145600
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Abnormal atrioventricular conduction, Vesi... ORPHA:3208
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia, Rhinorrhea OMIM:167400
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Hepatomegaly, Giant cell hepatitis, Ventricular septal defect, Pro... OMIM:613404
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Decreased methionine synthase activity, Hypomethioninemia, Tachypnea, Met... OMIM:614857
Aortic Arch Interruption
Respiratory distress, Bicuspid aortic valve, Tachypnea, Aortic valve atresia, Aortopulmonary wind... ORPHA:2299
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171420
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Hypotension,... ORPHA:95459
Attrv30M Amyloidosis
Cardiomegaly, Atrioventricular block, Cardiomyopathy, Nephropathy, Arrhythmia, Abnormal renal phy... ORPHA:85447
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Congenital diaphragmatic hernia, Atrial septal defect, Pulmonary arteria... OMIM:300887
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death OMIM:192605
Hereditary Coproporphyria
Hyponatremia, Proximal muscle weakness in upper limbs, Tachycardia, Dark urine, Abnormal circulat... ORPHA:79273
Pulmonary Arteriovenous Malformation
Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murmur, Telang... ORPHA:2038
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... OMIM:614916
Aicardi-Goutieres Syndrome 9
Hypoalbuminemia, Micropenis, Hypothyroidism, Hepatomegaly, Hemolytic anemia, Portal hypertension,... OMIM:619487
Familial Cervical Artery Dissection
Diabetes mellitus, Transient ischemic attack, Facial palsy, Subarachnoid hemorrhage, Recurrent ce... ORPHA:36382
Catastrophic Antiphospholipid Syndrome
Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o... ORPHA:464343
Cystic Hamartoma Of Lung And Kidney
Hypertension, Multicystic kidney dysplasia, Respiratory insufficiency ORPHA:2111
Pheochromocytoma/Paraganglioma Syndrome 3
Tachycardia, Extraadrenal pheochromocytoma, Glomus jugular tumor, Adrenal pheochromocytoma, Chemo... OMIM:605373
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Nephrogenic diabe... OMIM:208085
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Atrioventricular block, ... OMIM:115197
Adams-Oliver Syndrome 5
Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Pulmonary arterial hype... OMIM:616028
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respirator... ORPHA:746
Autoimmune Hemolytic Anemia, Warm Type
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Splenomegaly, Congestive heart ... ORPHA:90033
Idiopathic Non-Lupus Full-House Nephropathy
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... ORPHA:567544
Porphyria Variegata
Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Tachycardia... ORPHA:79473
Aorta Coarctation
Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Aortic valve atresia, Hypertension... ORPHA:1457
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Diabetes mellitus, Hyperinsulinemia, Hepatomegaly ORPHA:79084
Potocki-Shaffer Syndrome
Nephroblastoma, Hypertension, Delayed puberty, Micropenis, Hypothyroidism, Anemia ORPHA:52022
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Episodic tachypnea, Elevated circulating creatine kinase concentration, Tac... ORPHA:26793
Plin1-Related Familial Partial Lipodystrophy
Hypertriglyceridemia, Hyperinsulinemia, Abnormal circulating hormone concentration, Calf muscle h... ORPHA:280356
Thrombophilia Due To Thrombomodulin Defect
Pulmonary embolism OMIM:614486
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fraction, Increased var... OMIM:614096
Stiff-Person Syndrome
Tachycardia, Diabetes mellitus, Anemia, Hypertension, Proximal limb muscle stiffness, Asymmetric ... OMIM:184850
Adenine Phosphoribosyltransferase Deficiency
Abnormal circulating enzyme concentration or activity, Recurrent urinary tract infections, Renal ... ORPHA:976
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Abnormal circulating enzyme conc... ORPHA:98915
Ventricular Fibrillation, Paroxysmal Familial, 1
Tachycardia, Syncope, Ventricular fibrillation OMIM:603829
Glycogen Storage Disease Xv
Scapular winging, ST segment elevation, Right bundle branch block, Cardiomyocyte hypertrophy, Par... OMIM:613507
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Hepatomegaly, Tricuspid regurgitation, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Mitral ... OMIM:619167
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Hypertriglyceridemia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Carnitine-Acylcarnitine Translocase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Elevated creatine kinase after exercise, Sudden epis... ORPHA:159
Sickle Cell Disease
Hepatomegaly, Hemolytic anemia, Renal insufficiency, Cardiomegaly, Splenomegaly, Jaundice, Leukoc... OMIM:603903
Ethanolaminosis
Cardiomegaly OMIM:227150
Nephronophthisis 2
Absence of renal corticomedullary differentiation, Situs inversus totalis, Hyperkalemia, Elevated... OMIM:602088
Meconium Aspiration Syndrome
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Abnormal hear... ORPHA:70588
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Nephropathy, Emphysema,... ORPHA:324
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Tachycardia, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, ... OMIM:168000
Rh Deficiency Syndrome
Hemolytic anemia, Tachycardia, Reticulocytosis, Macrocytic anemia, Anisocytosis, Jaundice, Tachyp... ORPHA:71275
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated cir... OMIM:613095
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Pulmonic valve myxoma, Cardiac m... ORPHA:615
Thrombophilia, X-Linked, Due To Factor Viii Defect
Pulmonary embolism OMIM:301071
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Moyamoya Disease With Early-Onset Achalasia
Raynaud phenomenon, Hypertension, Thrombocytopenia ORPHA:401945
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Hypokalemia, Palpitations, Goiter OMIM:188580
Atrial Septal Defect 9
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:614475
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Absence Of The Pulmonary Artery
Cardiomegaly, Nonproductive cough, Atrial septal defect, Patent foramen ovale, Abnormal EKG, Bron... ORPHA:980
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:176860
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated hepatic transaminase, Tachycardia, Heart block, Tachypnea, Elevated circulating creatini... ORPHA:542323
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-o... ORPHA:423
Eisenmenger Syndrome
Respiratory distress, Elevated circulating C-reactive protein concentration, Ventricular tachycar... ORPHA:97214
Interstitial Lung Disease 2
Dyspnea, Cough, Decreased DLCO, Pulmonary arterial hypertension, Exertional dyspnea OMIM:178500
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmia, Methemo... ORPHA:464453
Sneddon Syndrome
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Ischemic stroke, Lymphopenia OMIM:182410
Long Qt Syndrome 3
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... OMIM:603830
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Congestive heart failure, Dyspnea, Ragged-red muscle fibers, Dilated ca... ORPHA:1349
Polycythemia Vera
Gastrointestinal hemorrhage, Cerebral hemorrhage, Splenomegaly, Leukocytosis, Increased hemoglobi... OMIM:263300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Wolff-Parkinson-White syndrome, Proximal muscle weakness in upper limbs, Skeletal muscle atrophy,... OMIM:619566
Rhabdoid Tumor
Renal neoplasm, Hypercalcemia, Thrombocytopenia, Respiratory insufficiency, Hematuria, Hypertensi... ORPHA:69077
Grange Syndrome
Aortic regurgitation, Hypertension, Ventricular septal defect ORPHA:79094
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Diabetes mellitus, Abnormality of the kidney, Decreased serum iron, Flexion contracture, Abnormal... ORPHA:391372
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Hypertension, Tachypnea, Pulmonary arterial hypertension, Cardiomegaly OMIM:613320
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Portal hypertension, Situs inversus tota... OMIM:267010
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... OMIM:612925
Chronic Thromboembolic Pulmonary Hypertension
Reduced vital capacity, Cardiac shunt, Elevated circulating C-reactive protein concentration, Rig... ORPHA:70591
Lipodystrophy, Familial Partial, Type 5
Hepatomegaly, Hypertriglyceridemia, Decreased adiponectin level, Decreased serum leptin, Hyperten... OMIM:615238
Sinoatrial Node Dysfunction And Deafness
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia OMIM:614896
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Diabetes mellitus, Elevated circulating creatine kinase concentration, H... OMIM:615980
Cardiomyopathy, Familial Hypertrophic, 7
Wolff-Parkinson-White syndrome, Ventricular hypertrophy, Atrial fibrillation, Hypertrophic cardio... OMIM:613690
Hyperthyroidism, Familial Gestational
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:603373
Pituitary Gigantism
Elevated circulating growth hormone concentration, Increased circulating insulin-like growth fact... ORPHA:99725
Sarcoidosis, Susceptibility To, 2
Hepatomegaly, Facial palsy, Splenomegaly, Dyspnea, Pneumothorax, Bronchiectasis, Hypoxemia, Restr... OMIM:612387
Infant Acute Respiratory Distress Syndrome
Tachycardia, Pneumonia, Cardiac arrest, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure,... ORPHA:70587
Thiamine-Responsive Megaloblastic Anemia Syndrome
Diabetes mellitus, Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Paroxysmal at... ORPHA:49827
Carnitine Palmitoyltransferase I Deficiency
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... OMIM:255120
Neuroleptic Malignant Syndrome
Urinary incontinence, Elevated circulating creatine kinase concentration, Pulmonary embolism, Hyp... ORPHA:94093
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Senior-Loken Syndrome
Hypertension, Chronic kidney disease, Stage 5 chronic kidney disease, Nephronophthisis ORPHA:3156
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612926
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... OMIM:615441
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Abnormal c... ORPHA:264675
Refsum Disease, Classic
Decreased phytanoyl-CoA hydroxylase activity, Cardiomegaly, Congestive heart failure, Elevated ci... OMIM:266500
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P... ORPHA:1686
Leber Hereditary Optic Neuropathy
Myopathy, Arrhythmia, Ventricular preexcitation, Retinal telangiectasia ORPHA:104
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... OMIM:212140
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, An... OMIM:612924
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Elevated circulating alkaline phosphatase concent... OMIM:616833
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
C3 Glomerulopathy
Membranoproliferative glomerulonephritis, Proteinuria, Mesangial hypercellularity, Glomerular ext... ORPHA:329918
Brugada Syndrome 1
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... OMIM:601144
Hemochromatosis, Type 1
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Ca... OMIM:235200
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Right bund... OMIM:613243
Schimke Immunoosseous Dysplasia
Pancytopenia, Renal insufficiency, Transient ischemic attack, Proteinuria, Dyspnea, Thrombocytope... OMIM:242900
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Elevated urinary 3-hydroxyb... ORPHA:42
Tako-Tsubo Cardiomyopathy
Prolonged QTc interval, Mildly elevated creatine kinase, Mildly reduced left ventricular ejection... ORPHA:66529
Isolated Right Ventricular Hypoplasia
Tricuspid regurgitation, Abnormal atrioventricular conduction, Right ventricular failure, Cardiom... ORPHA:439
Diffuse Cutaneous Systemic Sclerosis
Renal insufficiency, Telangiectasia of the skin, Congestive heart failure, Dyspnea, Flexion contr... ORPHA:220393
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Lymphedema And Cerebral Arteriovenous Anomaly
Pulmonary arterial hypertension OMIM:152900
Lipodystrophy, Familial Partial, Type 4
Skeletal muscle hypertrophy, Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia OMIM:613877
Denys-Drash Syndrome
Proteinuria, Hypertension, Nephrotic syndrome, Nephropathy, Nephroblastoma ORPHA:220
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Respiratory failure, Interstitial pneum... ORPHA:330021
Limited Cutaneous Systemic Sclerosis
Foot joint contracture, Telangiectasia of the skin, Pulmonary arterial hypertension, Joint contra... ORPHA:220402
Chronic Atrial And Intestinal Dysrhythmia
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... OMIM:616201
Atrial Fibrillation, Familial, 14
ST segment elevation, Paroxysmal atrial fibrillation, Hypertension, Prolonged PR interval OMIM:615378
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Mildly reduced left ventricular ejection fraction, B... ORPHA:99094
Schimke Immuno-Osseous Dysplasia
Neutropenia, Nephropathy, Nephrotic range proteinuria, Minimal change glomerulonephritis, Decreas... ORPHA:1830
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Proteinuria, Abnormal circulating fatty... ORPHA:263455
Pulmonary Hypertension, Primary, 4
Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs... OMIM:615344
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:613239
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulo... ORPHA:340
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Congestive heart failure, Cardiomegaly OMIM:300886
Naxos Disease
Sudden cardiac death, Congestive heart failure, Cardiomyopathy, Paroxysmal ventricular tachycardi... ORPHA:34217
Moyamoya Disease 6 With Or Without Achalasia
Raynaud phenomenon, Hypertension, Ischemic stroke, Thrombocytopenia OMIM:615750
Lipodystrophy, Familial Partial, Type 1
Hypertension, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hepatomegaly OMIM:608600
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... OMIM:620135
Tetanus
Respiratory distress, Tachycardia, Elevated circulating creatine kinase concentration, Elevated u... ORPHA:3299
Glutaric Aciduria Iii
Hyperthyroidism, Glutaric aciduria, Hypertension, Reduced peroxisomal glutaryl-CoA oxidase activi... OMIM:231690
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tachycardia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia ORPHA:276608
Alagille Syndrome 2
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Hypertension, Renal tu... OMIM:610205
Corticosteroid-Binding Globulin Deficiency
Decreased circulating cortisol level, Decreased urinary potassium, Hypertension, Hypokalemia, Hyp... OMIM:611489
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Tachycardia, Syncope, Premature ventricular contraction OMIM:192445
Hurler-Scheie Syndrome
Aortic regurgitation, Hepatomegaly, Camptodactyly of finger, Thenar muscle atrophy, Heparan sulfa... OMIM:607015
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Polyarteritis Nodosa
Pericarditis, Abnormality of the kidney, Elevated circulating C-reactive protein concentration, R... ORPHA:767
Coenzyme Q10 Deficiency, Primary, 2
Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation OMIM:614651
Multicentric Carpotarsal Osteolysis Syndrome
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chronic kidney disease... OMIM:166300
Cirrhosis, Familial
Jaundice, Fulminant hepatitis, Increased level of L-fucose in urine, Hypertension, Increased leve... OMIM:215600
Sepsis In Premature Infants
Hepatomegaly, Tachycardia, Abnormal mucociliary clearance, Elevated circulating C-reactive protei... ORPHA:90051
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Pheochromocytoma
Tachycardia, Proteinuria, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephrine lev... OMIM:171300
Sneddon Syndrome
Intracranial hemorrhage, Hypertension, Nephropathy ORPHA:820
Noonan Syndrome 8
Ventricular septal defect, Pleural effusion, Mitral regurgitation, Pulmonic stenosis, Atrial sept... OMIM:615355
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Elevated circulating creatine kinase concentration, ... ORPHA:90068
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency
Pulmonary embolism ORPHA:82
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Tubulointerstitial nephritis, Nephropathy, Decreased glo... ORPHA:85450
Total Anomalous Pulmonary Venous Return 1
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia OMIM:106700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Elevated circulating creatine kinase concentration, Cardiomegaly, Flexion c... ORPHA:365
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Conjugated hyperbilirubinemia, Congestive heart failure, Splenomegaly... OMIM:269920
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P... OMIM:115200
Jervell And Lange-Nielsen Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval OMIM:220400
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Right axis deviation, Increased circulating NT-proBNP concentrati... OMIM:232300
Nephronophthisis 18
Stage 5 chronic kidney disease, Thickened glomerular basement membrane, Hypertension, Tubulointer... OMIM:615862
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia, Hyperaldosteronism OMIM:605635
Juvenile Neuronal Ceroid Lipofuscinosis
Abnormal circulating enzyme concentration or activity, Tachycardia, Apnea, Episodic tachypnea, Ab... ORPHA:79264
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Abnormality of the... OMIM:103900
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Gastrointestinal hemorrhage, Normocytic anemia, Proteinuria, Pneumonia, Raynaud phenomenon, Nephr... ORPHA:247691
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Craniofaciofrontodigital Syndrome
Gastrointestinal hemorrhage, Persistent fetal circulation, Respiratory distress, Bicuspid aortic ... ORPHA:363705
Myopathy, Myofibrillar, 1
Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated cardiomyopathy, EMG: myop... OMIM:601419
Myotonic Dystrophy 2
Tachycardia, Elevated circulating creatine kinase concentration, Premature ventricular contractio... OMIM:602668
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Hypospadias, Renal salt wasting, Adrenogenital syndrome, Hypertension OMIM:201910
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Cerebral hemorrhage, Elevated urinary norepinephri... ORPHA:94080
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Renal insufficiency, Mitral valve prolapse, Hypertension, Mitral regurgitation, Polycystic kidney... OMIM:173900
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P... ORPHA:774
Scimitar Syndrome
Respiratory distress, Heart block, Hypoplasia of the diaphragm, Cough, Atrial septal defect, Sing... ORPHA:185
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Hypoalbuminemia, Atrial septal defect, Pat... ORPHA:505248
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough ORPHA:330012
Familial Thrombocytosis
Acute myeloid leukemia, Transient ischemic attack, Thrombocytosis, Splenomegaly, Chronic myelogen... ORPHA:71493
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Vacuolated lymphocytes, Hypona... ORPHA:275761
Thrombophilia Due To Thrombin Defect
Pulmonary embolism OMIM:188050
Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... OMIM:115000
Gaucher Disease Type 1
Hepatomegaly, Pancytopenia, Proteinuria, Pericardial effusion, Splenomegaly, Abnormal myocardium ... ORPHA:77259
Hydroxykynureninuria
Tachycardia, Breathing dysregulation, Abnormal circulating tryptophan concentration, Renal tubula... ORPHA:79155
Pediatric-Onset Graves Disease
Elevated hepatic transaminase, Hepatomegaly, Atrial fibrillation, Puberty and gonadal disorders, ... ORPHA:525731
Double Outlet Right Ventricle
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Tachypnea, Double outlet right ventri... ORPHA:3426
Acute Intermittent Porphyria
Hyponatremia, Abnormal circulating enzyme concentration or activity, Tachycardia, Proximal muscle... ORPHA:79276
Coach Syndrome 2
Elevated hepatic transaminase, Elevated circulating creatinine concentration, Hypertension, Apnei... OMIM:619111
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Hypertension, Aminoaciduria, Hypop... OMIM:618913
Polycythemia Vera
Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, Epistaxis, Portal hypertension, Pulmo... ORPHA:729
Pseudohypoaldosteronism, Type Iia
Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:145260
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Hyperalaninemia, Pulmonary arterial hypertension, Hyperglycinemia OMIM:619059
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Facial palsy, Respiratory insufficiency, Hypertension, Hypogonadism, Lim... ORPHA:97229
Arrhythmogenic Right Ventricular Dysplasia, Familial, 6
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction OMIM:604401
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Increased variability in muscle fiber diamete... OMIM:620265
Developmental And Epileptic Encephalopathy 109
Left ventricular hypertrophy, Dyspnea OMIM:620145
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Alpha-aminoadipic aciduria, Hyperglycinuria, R... OMIM:605711
Systemic Lupus Erythematosus 17
Autoimmune thrombocytopenia, Raynaud phenomenon, Thrombocytopenia, Leukopenia, Mitral regurgitati... OMIM:301080
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Methanol Poisoning
Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat... ORPHA:31825
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Hepatomegaly, Tachycardia, Neutrophilia, Acute myeloid leukemia, Eosinophilia,... ORPHA:98849
Lipodystrophy, Congenital Generalized, Type 4
Prolonged QT interval, Hepatomegaly, Tachycardia, Atrial fibrillation, Elevated hepatic transamin... OMIM:613327
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... ORPHA:280679
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Tachycardia, Increased urinary glycerol, Apnea, Dyspnea, Hyperventilation OMIM:229700
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Hypospadias, Bradycardia, Pulmonary arterial hyper... OMIM:619272
Frasier Syndrome
Glomerulopathy, Renal insufficiency, Streak ovary, Hypergonadotropic hypogonadism, Proteinuria, I... ORPHA:347
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Congestive heart failure, Dil... OMIM:208000
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Glomerulonephritis, Crackles, Cardiomegaly, Diffuse alveolar hemorrhage, Dyspnea, H... ORPHA:99931
Abdominal Obesity-Metabolic Syndrome 4
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated hemoglobin A1c, Myocardia... OMIM:618620
Severe Neurodegenerative Syndrome With Lipodystrophy
Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia, Hypertension, Respiratory failure, Myopathy ORPHA:363400
Serotonin Syndrome
Tachycardia, Rhabdomyolysis, Tachypnea, Hypertension, Hypotension, Hepatic failure, Acute kidney ... ORPHA:43116
Long Qt Syndrome 2
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613688
Immunodeficiency 87 And Autoimmunity
Elevated circulating C-reactive protein concentration, Elevated gamma-glutamyltransferase level, ... OMIM:619573
Nephronophthisis 1
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Hypertension,... OMIM:256100
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad... ORPHA:3202
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Elevated urinary norepinephrine level, Elevated ... OMIM:171400
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Quadriceps muscle weakness, Ragged-red muscle... ORPHA:254892
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Elevated circulating creatine kinase concentration, Abnormal left ventricula... ORPHA:99827
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Elevated hepatic transaminase, Ketonuria, Cardiac arrest, Acute rhabdomyolysis, Premature thelarc... OMIM:616878
Antisynthetase Syndrome
Aortic regurgitation, Myositis, Telangiectasia of the skin, Elevated circulating creatine kinase ... ORPHA:81
Carney Triad
Gastrointestinal hemorrhage, Tachycardia, Leiomyosarcoma, Anemia, Hypertension, Pheochromocytoma,... ORPHA:139411
Fructose-1,6-Bisphosphatase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Tachycardia, Abnormal circulating enzyme concentrati... ORPHA:348
Long Qt Syndrome 9
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... OMIM:611818
Bacterial Toxic-Shock Syndrome
Respiratory distress, Myositis, Sinusitis, Elevated circulating creatine kinase concentration, Ta... ORPHA:36234
Braddock Syndrome
Unilateral renal agenesis, Pulmonary arterial hypertension, Neonatal respiratory distress, Congen... ORPHA:52047
Pparg-Related Familial Partial Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Hypertriglyceridemia, Maternal di... ORPHA:79083
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov... OMIM:264800
Long Qt Syndrome 6
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... OMIM:613693
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Renal insufficiency, Facial palsy... ORPHA:31826
Mucopolysaccharidosis, Type X
Aortic regurgitation, Thickened aortic valve cusp, Nephrolithiasis, Dermatan sulfate excretion in... OMIM:619698
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Hepatomegaly, Atrial flutter, Tachycardia, Atrial fibrillation, V... ORPHA:137675
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration OMIM:614458
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Autoimmune hemolytic anemia, Exertional dyspnea, Increased t... ORPHA:90036
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Seckel Syndrome 10
Ventricular hypertrophy, Diabetes mellitus, Hypertriglyceridemia, Elevated circulating aspartate ... OMIM:617253
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary hyperaldosteronism, Ne... ORPHA:231625
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... ORPHA:403
Glycogen Storage Disease Ic
Hepatomegaly, Renal insufficiency, Proteinuria, Cyclic neutropenia, Spider hemangioma, Hyperlipid... OMIM:232240
Familial Isolated Restrictive Cardiomyopathy
Hepatomegaly, Orthopnea, Tricuspid regurgitation, Atrial fibrillation, Left atrial enlargement, S... ORPHA:75249
Alstrom Syndrome
Decreased HDL cholesterol concentration, Chronic active hepatitis, Decreased response to growth h... OMIM:203800
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Thrombocytopenia, Leukocytosis, Cough, Pleural effu... ORPHA:3392
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... ORPHA:404
Pseudohypoaldosteronism Type 2
Hypertension, Hyperkalemia ORPHA:757
Romano-Ward Syndrome
Sudden cardiac death, Sinus bradycardia, Hypokalemia, Syncope, Torsade de pointes, Abnormal T-wav... ORPHA:101016
Factor V Excess With Spontaneous Thrombosis
Pulmonary embolism OMIM:134400
Hemangioma-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia, Ventricular arrhythmia OMIM:141000
Wolff-Parkinson-White Syndrome
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... OMIM:194200
Gaisböck Syndrome
Diabetes mellitus, Angina pectoris, Hypertriglyceridemia, Myocardial infarction, Splenomegaly, Dy... ORPHA:90041
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Tubulointerstitial nephritis, Cough, Glomerulopathy, ... ORPHA:183
Combined Oxidative Phosphorylation Deficiency 54
Tachycardia, Hypergonadotropic hypogonadism, Lower limb muscle weakness OMIM:619737
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Exercise-induced rhabdomyolysis, Dicarboxylic aciduria, Elevated circulating creati... OMIM:201475
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Vesicoureteral reflux, Atrial septal defect, Patent foramen ovale, Rig... OMIM:614261
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Tachycardia, Macrocytic anemia, Pancytopenia, Proteinuria, Megaloblastic anemia,... ORPHA:35858
Ganglioneuroma
Gastrointestinal hemorrhage, Central hypoventilation, Neoplasm of the adrenal gland, Hypertension... ORPHA:251992
Acute Interstitial Pneumonia
Crackles, Elevated circulating C-reactive protein concentration, Pericardial effusion, Nonproduct... ORPHA:79126
Keutel Syndrome
Pulmonary arterial hypertension, Ventricular septal defect, Recurrent sinusitis ORPHA:85202
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Prolonged QRS complex, Apnea, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Truncus Arteriosus
Aortic regurgitation, Tachycardia, Ventricular septal defect, Abnormal heart valve morphology, Ca... ORPHA:3384
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Decreased serum testosterone concentration, Hypogonadotropic... ORPHA:465508
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... OMIM:174000
Renal Hypoplasia
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Urethral valve, Unilateral ... ORPHA:93101
Paroxysmal Nocturnal Hemoglobinuria
Myocardial infarction, Pulmonary embolism, Leukopenia, Hemoglobinuria, Renal Fanconi syndrome, Er... ORPHA:447
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Leukopenia, Hypoplasia of the thymus, Neutropenia, Hepatomegaly, R... OMIM:612541
Jervell And Lange-Nielsen Syndrome
Iron deficiency anemia, Syncope, Torsade de pointes, Arrhythmia, Prolonged QTc interval, Ventricu... ORPHA:90647
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Diabetes mellitus, Transient ischemic attack, Cerebral hemorrhage, Stress urinary incontinence, I... ORPHA:136
Melas
Wolff-Parkinson-White syndrome, Ragged-red muscle fibers, Nephropathy, Hypothyroidism, Abnormal m... ORPHA:550
Cryoglobulinemia, Familial Mixed
Proteinuria, Chronic kidney disease, Elevated circulating creatinine concentration, Hematuria, Hy... OMIM:123550
Scorpion Envenomation
Bundle branch block, Increased circulating NT-proBNP concentration, Tachypnea, Prominent U wave, ... ORPHA:466677
Porphyria, Acute Intermittent
Tachycardia, Urinary incontinence, Dysuria, Hypertension, Urinary retention, Respiratory paralysi... OMIM:176000
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Pulmonary valve... ORPHA:210122
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Functional abnormality of the bladder, T lymphocytopenia, Patent foramen ovale, Autoimmune thromb... ORPHA:391487
Alport Syndrome 2, Autosomal Recessive
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... OMIM:203780
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Combined Oxidative Phosphorylation Deficiency 10
Cardiomegaly, Pericardial effusion, Hyperammonemia, Hypertrophic cardiomyopathy, Bradycardia, Hyp... OMIM:614702
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Hepatomegaly, Pericarditis, Myositis, Hemolytic anemia, Myocarditis,... ORPHA:809
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Apnea, Type 1 muscle fiber predominance, Right ve... OMIM:612949
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Hepatomegaly, Tricuspid regurgitation, Crackles, Dyspnea, Asthma, Wheezing, Leukocytosis, Bronchi... OMIM:620233
Extracranial Carotid Artery Aneurysm
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Upper limb muscle weakness, Hypertension,... ORPHA:494424
Renal Hypoplasia, Bilateral
Hyponatremia, Neonatal respiratory distress, Proteinuria, Chronic kidney disease, Hyperkalemia, R... ORPHA:97362
Familial Pseudohyperkalemia
Reticulocytosis, Hyperkalemia, Hypertension, Stomatocytosis, Increased mean corpuscular volume, E... ORPHA:90044
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Aspira... ORPHA:258
Long Qt Syndrome 1
Prolonged QT interval, Sudden cardiac death, Syncope, Torsade de pointes, Prolonged QTc interval,... OMIM:192500
Ochoa Syndrome
Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Urethral obstructi... ORPHA:2704
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Cerebral h... OMIM:300845
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Hypertension, Decreased liver function, Polycystic kidney dysplasia OMIM:600666
Neuraminidase Deficiency
Hepatomegaly, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Proteinu... OMIM:256550
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Hypertension, Anterior hypopituitarism ORPHA:181
Gaucher Disease Type 3
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Proteinu... ORPHA:77261
Pulmonary Hypertension, Primary, 3
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Elevated pulmonary arte... OMIM:615343
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Respiratory distress, Ventricular s... ORPHA:209905
Cholera
Hyponatremia, Tachycardia, Abnormality of renal excretion, Tachypnea, Abnormal blood ion concentr... ORPHA:173
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Renal insufficiency, Stage 5 chronic kidney disease, Hypertension, Polycystic kidney dysplasia, D... OMIM:618061
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Tachycardia, Extraadrenal pheochromocytoma, Elevated urinary cate... OMIM:115310
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Elevated circulating creatine kinase concentration, Muscular dystro... OMIM:613153
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Kagami-Ogata Syndrome
Hepatomegaly, Ventricular septal defect, Diastasis recti, Splenomegaly, Flexion contracture, Pulm... OMIM:608149
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Wild Type Attr Amyloidosis
Abnormal EKG, Hepatomegaly, Renal insufficiency, Proteinuria, Myocardial infarction, Congestive h... ORPHA:330001
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Neonatal respiratory distress, Ventricular septal defect, Apnea, Flexion contracture... OMIM:614653
Jervell And Lange-Nielsen Syndrome 2
Prolonged QT interval, Sudden cardiac death, Premature ventricular contraction, Syncope, Torsade ... OMIM:612347
Yellow Nail Syndrome
Renal neoplasm, Sinusitis, Dyspnea, Nephropathy, Bronchiectasis, Rhinitis, Cough, Pulmonary arter... ORPHA:662
Epilepsy, Idiopathic Generalized, Susceptibility To, 18
Bradycardia OMIM:619521
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephri... ORPHA:91139
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Tachycardia, Hypoproteinemia OMIM:221400
Liddle Syndrome 1
Renal insufficiency, Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decrease... OMIM:177200
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level OMIM:605115
Glucocorticoid Resistance, Generalized
Increased circulating ACTH level, Hypertension, Increased circulating cortisol level, Increased s... OMIM:615962
Pulmonary Hypertension, Primary, 2
Increased pulmonary vascular resistance, Pulmonary arterial hypertension, Abnormally loud pulmoni... OMIM:615342
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... OMIM:617280
Acquired Generalized Lipodystrophy
Hepatomegaly, Calf muscle pseudohypertrophy, Hypertriglyceridemia, Proteinuria, Insulin-resistant... ORPHA:79086
Cardiac-Valvular Ehlers-Danlos Syndrome
Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve... ORPHA:230851
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Congenital hypothyroidism, Atrial septal defect,... ORPHA:2519
Autosomal Dominant Polycystic Kidney Disease
Renal insufficiency, Recurrent urinary tract infections, Decreased glomerular filtration rate, Ch... ORPHA:730
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Respiratory insufficiency, Hypoplastic left heart, Bradycardia, Hypert... OMIM:616276
Nestor-Guillermo Progeria Syndrome
Left atrial enlargement, Decreased serum leptin, Dyspnea, Flexion contracture, Right bundle branc... OMIM:614008
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Decreased forced expiratory flow 25-75%, Camptodactyly of finger, Ankle flexion contracture, Cent... OMIM:617072
Senior-Boichis Syndrome
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... ORPHA:84081
Andersen-Tawil Syndrome
Prolonged QT interval, Bidirectional ventricular ectopy, Polymorphic ventricular tachycardia, Dil... ORPHA:37553
Systemic Sclerosis
Elevated circulating creatine kinase concentration, Flexion contracture, Intestinal bleeding, Int... ORPHA:90291
Long Qt Syndrome 16
T-wave alternans, Second degree atrioventricular block, Perimembranous ventricular septal defect,... OMIM:618782
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Ventricular tachycardia, Syncope OMIM:615821
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Tachycardia, Dupuytren contracture, Myosi... ORPHA:39812
Pure Autonomic Failure
Orthostatic hypotension, Dysuria, Urinary incontinence, Abnormality of circulating catecholamine ... ORPHA:441
Inflammatory Skin And Bowel Disease, Neonatal, 2
Hypertension, Recurrent pneumonia OMIM:616069
Poems Syndrome
Diabetes mellitus, Thrombocytosis, Polycythemia, Pericardial effusion, Abnormality of the endocri... ORPHA:2905
Gitelman Syndrome
Prolonged QT interval, Polyuria, Renal magnesium wasting, Hypomagnesemia, Rhabdomyolysis, Ventric... OMIM:263800
Abdominal Obesity-Metabolic Syndrome 3
Hypertriglyceridemia, Myocardial infarction, Increased LDL cholesterol concentration, Hypertensio... OMIM:615812
Congenital Heart Block
First degree atrioventricular block, Gallop rhythm, Pericardial effusion, Congestive heart failur... ORPHA:60041
Atrial Septal Defect 6
Atrial septal defect, Atrial fibrillation, Bradycardia OMIM:613087
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Hepatomegaly, Congestive heart failure, Myopathy, Hypertrophic ca... OMIM:618234
19P13.3 Microduplication Syndrome
Precocious puberty, Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
Oligomeganephronia
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Unilateral renal agenesis, Sec... ORPHA:2260
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Schistocytosis, Elevated circ... OMIM:235400
Stiff Skin Syndrome
Nephrolithiasis, Hypertension, Abnormal circulating lipid concentration, Type II diabetes mellitus ORPHA:2833
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Atrioventricular c... OMIM:265380
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Elevated circulating creatine kinase concentration, Cardiomegaly, Heart block, Red-brown urine, T... ORPHA:228308
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Hepatomegaly, Pulmonary embolism, Microcytic anemia, Congestive hear... ORPHA:90308
Von Hippel-Lindau Disease
Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Myocardial infarction, Myoca... ORPHA:892
Paternal Uniparental Disomy Of Chromosome 1
Membranoproliferative glomerulonephritis, Proteinuria, Hypercalcemia, Macroscopic hematuria, Incr... ORPHA:251004
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... ORPHA:231580
Lipodystrophy, Familial Partial, Type 3
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin-resista... OMIM:604367
Pseudohypoaldosteronism, Type Iib
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614495
Methylcobalamin Deficiency Type Cble
Hypomethioninemia, Macrocytic anemia, Pancytopenia, Glomerulopathy, Hemolytic-uremic syndrome, Hy... ORPHA:2169
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Episodic hypertension, Apnea, Central hypoventilation OMIM:619483
Long Qt Syndrome 5
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... OMIM:613695
Apparent Mineralocorticoid Excess
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:218030
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Increased circulating ... OMIM:609152
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:276621
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Congestive heart failure, Abnormal atriove... ORPHA:324410
Multisystemic Smooth Muscle Dysfunction Syndrome
Atrial septal defect, Hypertension, Tachypnea, Pulmonary arterial hypertension OMIM:613834
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Proteinuria, Hematuria, Syncope, Renal artery stenosis, Mic... ORPHA:71273
Morgagni-Stewart-Morel Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Abnormality of the thyroid gland, Hyperte... ORPHA:77296
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased urinary cortisol level, Decreased circulating ACTH concentration, Hypertension, Increas... OMIM:615954
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Methylma... ORPHA:79282
Familial Short Qt Syndrome
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... ORPHA:51083
Long Qt Syndrome 12
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes OMIM:612955
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Left ventricular hypertrophy, Tachycardia, Dilated cardiomyopathy, Pancytopenia OMIM:618321
Birk-Landau-Perez Syndrome
Neonatal respiratory distress, Stage 3 chronic kidney disease, Facial hypotonia, Renal insufficie... OMIM:617595
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98855
Glycogen Storage Disease Ia
Elevated hepatic transaminase, Hepatomegaly, Decreased muscle mass, Proteinuria, Decreased glomer... OMIM:232200
Liddle Syndrome 2
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618114
Liddle Syndrome 3
Hypertension, Hypokalemia, Decreased circulating aldosterone level, Decreased circulating renin l... OMIM:618126
Brugada Syndrome 8
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Sick sinus syndrome, Patent foramen ovale, Bradycardia OMIM:617182
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Left-to-right shunt, Ventricular septal defect, Congestive heart failure, Left ventricular outflo... ORPHA:99050
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Abnormal heart morphology, Ab... ORPHA:485405
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Adrenal hyperplasia, Decreased circulating ACTH concentration, Hypertens... OMIM:219080
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Atrial fibrillation, Proximal amyotrophy, Bradycardia, Muscular dystroph... OMIM:614302
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Abnormal pulmonary valve morphology, Portal hypertension, Leukopenia... ORPHA:974
Pulmonary Edema Of Mountaineers, Susceptibility To
Elevated pulmonary artery pressure OMIM:178400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Elevated circulating creatinine concentration, Hypertension... OMIM:223900
Nephroblastoma
Hematuria, Hypertension, Nephroblastoma ORPHA:654
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98853
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Apnea, Ventricular septal defect, Respiratory failure, Bradycardia, Hypertrophic cardiomyopathy OMIM:616277
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hypertension, Hypokalemia, Hyperaldosteronism, Dec... OMIM:613677
Overhydrated Hereditary Stomatocytosis
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Pulmonary embolism, Splenomegaly, Jaundice, Stom... OMIM:185000
Paroxysmal Hemicrania
Hypertension, Rhinitis, Diabetes mellitus, Rhinorrhea ORPHA:157835
Alport Syndrome 1, X-Linked
Hypoparathyroidism, Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, T... OMIM:301050
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Ureteral duplication, Apnea, Elevated circulating creatine kinase concentration, Cardiomegaly, In... OMIM:608836
Coach Syndrome 1
Elevated hepatic transaminase, Hepatomegaly, Portal hypertension, Unilateral renal agenesis, Sple... OMIM:216360
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Nonketotic hyperglycinemia ORPHA:401866
Posterior Urethral Valve
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye... ORPHA:93110
Tetrasomy 5P
Respiratory distress, Congestive heart failure, Aplasia/Hypoplasia of the abdominal wall musculat... ORPHA:3309
Arteriosclerosis, Severe Juvenile
Myocardial infarction, Chronic kidney disease, Hypertension, Delayed puberty, Anemia OMIM:208060
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Tricuspid regurgitation, Pneumonia, Reduced leukocyte arylsulfatase B activity, Spl... OMIM:253200
Renal Dysplasia
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... ORPHA:93108
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Accessory spleen, Acute respiratory distress syndrome, Severe B ly... OMIM:620005
Mulibrey Nanism
Hepatomegaly, Cardiomegaly, Congestive heart failure, Myocardial fibrosis, Pericardial constricti... OMIM:253250
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Hypertension, Nephrot... ORPHA:110
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Renal insufficiency, Portal hypertension, Absence of renal corticomedullary differe... OMIM:263200
Pseudohypoaldosteronism, Type Iie
Hyperchloremia, Hypertension, Pseudohypoaldosteronism, Hyperkalemia OMIM:614496
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Hypospadias, Dilated cardiomyopathy, Flexion contracture, Micropenis, Bradycardia, Hypertrophic c... OMIM:618815
X-Linked Emery-Dreifuss Muscular Dystrophy
Elevated circulating creatine kinase concentration, Atrioventricular block, Decreased cervical sp... ORPHA:98863
Postorgasmic Illness Syndrome
Hypertension, Palpitations ORPHA:279947
Neuroblastoma, Susceptibility To, 1
Elevated urinary catecholamine level, Elevated urinary dopamine level, Abnormality of urine catec... OMIM:256700
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Renal cortical adenoma, Hyperte... ORPHA:231632
Geleophysic Dysplasia 2
Hepatomegaly, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, Mitral regurg... OMIM:614185
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Anemia, Cerebral hemorrhage, Pulmonary embolism OMIM:614514
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular failure, Dyspnea, Hypoxemia,... ORPHA:199241
Caudal Regression Syndrome
Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Maternal diabet... ORPHA:3027
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature pubarche, Premature thelarche, Isosexual precocio... ORPHA:90795
Renal Agenesis
Renal insufficiency, Renal agenesis, Ventricular septal defect, Proteinuria, Unilateral renal age... ORPHA:411709
Mucolipidosis Type Ii
Aortic regurgitation, Hip contracture, Respiratory failure requiring assisted ventilation, Abnorm... ORPHA:576
Short Qt Syndrome 3
Shortened QT interval, Tachycardia, Palpitations OMIM:609622
Pseudohypoaldosteronism, Type Iic
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia, Decreased circulating renin ... OMIM:614492
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Hypercalcemia, Cerebr... ORPHA:29072
Infant Botulism
Hyponatremia, Cardiac arrest, Respiratory insufficiency due to muscle weakness, Dyspnea, Hyperten... ORPHA:178478
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydroureter, Elevated circulating alpha-fetoprotein concentration, Patent foramen ovale, Hypertro... ORPHA:280633
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive
Vitreous hemorrhage, Pulmonary embolism OMIM:612304
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Asymmetric septal h... OMIM:252920
Alport Syndrome
Mesangial hypercellularity, Cough, Nephritis, Tubulointerstitial fibrosis, Glomerular C3 depositi... ORPHA:63
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant
Pulmonary embolism OMIM:612336
Glycogen Storage Disease Ib
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Decreased glomerular filtration rate, S... OMIM:232220
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Atrial septal defect, Pulmonary arte... OMIM:616449
Bardet-Biedl Syndrome 1
Diabetes mellitus, Abnormality of the kidney, Nephrogenic diabetes insipidus, Asthma, Hypertensio... OMIM:209900
Brugada Syndrome 3
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... OMIM:611875
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... OMIM:615067
Familial Cerebral Saccular Aneurysm
Intracranial hemorrhage, Hypertension, Transient ischemic attack, Subarachnoid hemorrhage ORPHA:231160
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ... ORPHA:758
Hughes-Stovin Syndrome
Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary arterial hype... ORPHA:228116
Congenital Toxoplasmosis
Elevated hepatic transaminase, Hepatomegaly, Cardiomegaly, Thrombocytopenia, Jaundice, Anemia ORPHA:858
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Pulmonary embolism, Minimal change glomerulonephritis, Dyspnea, Hyperlipidemia, Chronic kidney di... ORPHA:567546
Combined Oxidative Phosphorylation Deficiency 38
Wolff-Parkinson-White syndrome, Hyperalaninemia, Hypertrophic cardiomyopathy, Respiratory insuffi... OMIM:618378
Juvenile Paget Disease
Hypertension, Hyperuricemia ORPHA:2801
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Atrial septal defect, Patent fo... OMIM:618652
Mitochondrial Complex I Deficiency, Nuclear Type 13
Hepatomegaly, Apnea, Cardiac arrest, Bradycardia, Hypertrophic cardiomyopathy OMIM:618235
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Weakness of facial musculat... OMIM:254940
Pigmented Nodular Adrenocortical Disease, Primary, 4
Diabetes mellitus, Adrenal hyperplasia, Hypertension, Increased circulating cortisol level, Prima... OMIM:615830
X-Linked Intellectual Disability, Hedera Type
Left ventricular hypertrophy, Hypomimic face ORPHA:93952
Extrasystoles-Short Stature-Hyperpigmentation-Microcephaly Syndrome
Heart block, Bacterial endocarditis, Premature ventricular contraction ORPHA:1964
Familial Aortic Dissection
Aortic regurgitation, Cardiomegaly, Abnormal left ventricular function, Paroxysmal dyspnea, Exert... ORPHA:229
Marburg Hemorrhagic Fever
Elevated circulating creatine kinase concentration, Nonproductive cough, Leukopenia, Hypoalbumine... ORPHA:99826
17Q23.1Q23.2 Microdeletion Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Congenital contracture, Dyspnea ORPHA:261279
Noonan Syndrome 10
Mitral stenosis, Ventricular septal defect, Mitral valve prolapse, Pleural effusion, Mitral regur... OMIM:616564
Osteopetrosis With Renal Tubular Acidosis
Abnormal circulating enzyme concentration or activity, Hepatomegaly, Pancytopenia, Elevated circu... ORPHA:2785
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Decreased circulating cortisol level, Male hypogonadism, Micropenis, Decreased circulating renin ... ORPHA:90793
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Familial Dysautonomia
Hyponatremia, Glomerulopathy, Orthostatic hypotension, Tachycardia, Renal insufficiency, Abnormal... ORPHA:1764
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Proteinuria, Dyspnea, Increased DLCO, Leukocy... ORPHA:90060
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Anuria, Myocardial infarction, Leukocytosis, Schistocytosis, Eleva... ORPHA:90038
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Sick sinus syndrome, Bradycardia OMIM:617173
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Atrial standstill, Dilatation of the ventricular cavity, Dy... OMIM:615745
Long Qt Syndrome 8
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... OMIM:618447
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Urinary incontinence, Congestive heart failure, Respiratory ... OMIM:616482
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Absence of renal corticomedullary differentiation, Secundum atrial septal defect, Renal hypoplasi... OMIM:619758
Cantu Syndrome
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly OMIM:239850
Renal Hypodysplasia/Aplasia 1
Hypertension, Bilateral renal agenesis, Proteinuria, Renal dysplasia OMIM:191830
Sandhoff Disease
Hepatomegaly, Skeletal muscle atrophy, Orthostatic hypotension, Reduced beta-hexosaminidase activ... OMIM:268800
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Leukocytosis, Tachypnea, Hyperammonemia, Hypertension, Hyperuricemia, Hy... ORPHA:134
Ogden Syndrome
Bicuspid aortic valve, Apnea, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Ven... OMIM:300855
Granulomatosis With Polyangiitis
Sinusitis, Elevated circulating C-reactive protein concentration, Granulomatosis, Cough, Abnormal... ORPHA:900
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... ORPHA:189427
Primary Triglyceride Deposit Cardiomyovasculopathy
Elevated circulating creatine kinase concentration, Vacuolated lymphocytes, Increased muscle lipi... ORPHA:565612
Lead Poisoning
Decreased HDL cholesterol concentration, Asthma, Chronic kidney disease, Imbalanced hemoglobin sy... ORPHA:330015
Vici Syndrome
Lymphopenia, Elevated circulating creatine kinase concentration, Congestive heart failure, Dilate... OMIM:242840
Igg4-Related Retroperitoneal Fibrosis
Normocytic anemia, Renal insufficiency, Dysuria, Elevated circulating C-reactive protein concentr... ORPHA:49041
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Congestive heart failure, Cardiomyocyte hypertrophy, Dilated cardiomyopathy, Ventricular tachycardia OMIM:605676
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Elevated hepatic transaminase, Hepatomegaly, Pancytopenia, Renal artery aneurysm, Portal hyperten... OMIM:615688
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Hypertriglyceridemia, Congestive heart failu... ORPHA:363618
Mogs-Cdg
Respiratory distress, Hepatomegaly, Hypoventilation, Apnea, Cardiomegaly, Thrombocytopenia, Hepat... ORPHA:79330
3Q29 Microdeletion Syndrome
Pulmonary arterial hypertension, Hypospadias, Horseshoe kidney, Subvalvular aortic stenosis ORPHA:65286
Nelson Syndrome
Increased urinary cortisol level, Diabetes insipidus, Quadriceps muscle atrophy, Pituitary cortic... ORPHA:199244
Long Qt Syndrome 14
Prolonged QT interval, 2:1 atrioventricular block, Cardiac arrest, T-wave alternans, Prolonged QT... OMIM:616247
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Tricuspid regurgitation, Bronchiectasis, Decreased proportion of ... OMIM:619705
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Premature thelarche, Atrioventricular block, Mi... ORPHA:371428
Autoimmune Hypoparathyroidism
Prolonged QT interval, Calcium nephrolithiasis, Autoimmune hypoparathyroidism, Dyspnea, Abnormal ... ORPHA:36913
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Congestive heart failure, Cardiomyopathy, 3-Methylglutaconic aciduria, Limb muscle ... OMIM:619259
Familial Atrial Fibrillation
Atrial fibrillation, Myocardial infarction, Dyspnea, Syncope, Palpitations ORPHA:334
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Gaucher Disease
Hepatomegaly, Mitral valve calcification, Pancytopenia, Abnormal heart valve morphology, Abnormal... ORPHA:355
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Transient ischemic attack, Bicuspid aortic valve, Subarachnoid hemorrhage, ... ORPHA:91387
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Congenital hypothyroidism, Hypoalbuminemia, Cardiomegaly ORPHA:88643
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, Fingerpa... OMIM:600376
Adams-Oliver Syndrome 1
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Hypoplastic left heart, Pulmonic ... OMIM:100300
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Diffuse mesangial sclerosis, Neonatal respiratory distress, ... OMIM:194080
Linear Skin Defects With Multiple Congenital Anomalies 3
Cardiac arrest, Thyroid C cell hyperplasia, Dilated cardiomyopathy, Ventricular tachycardia, Hist... OMIM:300952
Familial Bicuspid Aortic Valve
Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, Heart murmur, Hypertensi... ORPHA:402075
Blau Syndrome
Clear cell renal cell carcinoma, Pericarditis, Facial palsy, Camptodactyly of finger, Splenomegal... ORPHA:90340
Congenital Disorder Of Glycosylation, Type Iig
Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome, Giant platelets, Anemia, Camptodacty... OMIM:611209
Pituitary Apoplexy
Hyponatremia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te... ORPHA:95613
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Pineal cy... OMIM:300967
Brugada Syndrome 2
Sudden cardiac death, First degree atrioventricular block, Right bundle branch block, Syncope, Pr... OMIM:611777
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Ventricular escape rhythm, Sick sinus syndrome, Bradycardia, Prolonged PR interval, Arrhythmia, P... ORPHA:542306
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Fg Syndrome Type 1
Progressive flexion contractures, Hypospadias, Mitral valve prolapse, Small pituitary gland, Atri... ORPHA:93932
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Polyuria, Renal salt wasting, Hypertension, Enuresis, Hyperaldosteronism, Increased circulating r... OMIM:612780
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Hsd10 Disease, Infantile Type
Abnormal circulating enzyme concentration or activity, Cardiomegaly, Hyperammonemia, Hypertrophic... ORPHA:391428
Spondyloenchondrodysplasia
Pancytopenia, Autoimmune hemolytic anemia, Proteinuria, Decreased response to growth hormone stim... ORPHA:1855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Diabetes mellitus, Abnormality of the thyroid gland, Ragged-red muscle fibers, Limb muscle weakne... OMIM:609286
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Aplasia of the thymus, Facial palsy, Hypothyroidism, Congenital hypothyroidism, Unconjugated hype... OMIM:620186
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Pituitary adenoma, Increased circulating ACTH level, Nephrolithiasis, Hy... OMIM:219090
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... OMIM:618619
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Calcinosis, Hyponatremia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Hypertension, Aminoac... OMIM:617913
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Myocardial infarction, Aortic valve ... ORPHA:56
Alagille Syndrome
Hepatomegaly, Ventricular septal defect, Telangiectasia of the skin, Renal hypoplasia/aplasia, Ab... ORPHA:52
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Ventricular septal defect, Anteri... ORPHA:466791
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirubinemia, Prim... OMIM:619534
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Penoscrotal transposition, Small thenar eminence, Pulmonic stenosis, Camptodactyly, ... OMIM:619148
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Respiratory distress, Hyperphosphaturia, Transient ischemic attack, Elev... ORPHA:51608
Papillorenal Syndrome
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... OMIM:120330
Malignant Hyperthermia, Susceptibility To, 5
Tachycardia, Hypercapnia OMIM:601887
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Diabetes mellitus, Intrahepatic cholestasis, Hypertension, Elevate... ORPHA:69663
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2
Hypospadias, Respiratory insufficiency, Hyperammonemia, Hypertension, 3-Methylglutaconic aciduria... OMIM:614052
Livedoid Vasculopathy
Pancytopenia, Diabetes mellitus, Telangiectasia of the skin, Leukocytosis, Hyperhomocystinemia, H... ORPHA:542643
Tempi Syndrome
Transudative pleural effusion, Abnormality of the kidney, Telangiectasia, Intracranial hemorrhage... ORPHA:284227
Dermatomyositis
Pericarditis, Abnormal eosinophil morphology, Telangiectasia of the skin, Myocardial infarction, ... ORPHA:221
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Hypoproteinemia, Hepatomegaly, Pulmonary embolism, Iron deficiency anemia, Hypoalbuminemia, Budd-... OMIM:226300
Sick Sinus Syndrome 1
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... OMIM:608567
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Adrenal hypoplasia, Morgagni diaphragmatic... OMIM:613177
Osteogenesis Imperfecta, Type Iii
Pulmonary arterial hypertension OMIM:259420
Aortic Aneurysm, Familial Thoracic 10
Left ventricular hypertrophy, Mitral regurgitation, Bicuspid aortic valve OMIM:617168
Nephronophthisis-Like Nephropathy 1
Tubular basement membrane disintegration, Stage 5 chronic kidney disease, Hypertension, Renal cor... OMIM:613159
Idiopathic Steroid-Resistant Nephrotic Syndrome
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Hypertriglyce... ORPHA:567548
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Hyperprolinemia, Perimembranous ventricular septal defect, Hyperalaninemia, Limb hy... OMIM:619170
Mirizzi Syndrome
Elevated hepatic transaminase, Dark urine, Tachycardia, Jaundice, Elevated circulating alkaline p... ORPHA:521219
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Ventricular Fibrillation, Paroxysmal Familial, 2
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction OMIM:612956
Necrotizing Enterocolitis
Shock, Hyponatremia, Apnea, Leukocytosis, Abnormal heart morphology, Bradycardia, Hypotension, Ne... ORPHA:391673
Lipodystrophy, Familial Partial, Type 2
Hepatomegaly, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Insulin-resistant di... OMIM:151660
Isolated Ectopia Lentis
Hypertension ORPHA:1885
Progressive Familial Heart Block, Type Ib
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... OMIM:604559
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Polycythemia, High-out... OMIM:187300
15Q Overgrowth Syndrome
Tricuspid regurgitation, Contracture of the proximal interphalangeal joint of the 2nd finger, Ure... ORPHA:314585
Basel-Vanagaite-Smirin-Yosef Syndrome
Ventricular septal defect, Hypospadias, Recurrent pneumonia, Male urethral meatus stenosis, Atria... ORPHA:464738
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia, Renal cyst, Microph... OMIM:618454
Joubert Syndrome 14
Intracranial hemorrhage, Hypertension, Ventricular septal defect, Renal cyst OMIM:614424
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures
Prolonged QT interval, Flexion contracture, Stridor, Camptodactyly, Pulmonary arterial hypertension OMIM:620029
Cranioectodermal Dysplasia 2
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Splenomegaly, Recurrent pneumon... OMIM:613610
X-Linked Intellectual Disability, Nascimento Type
Ventricular septal defect, Hypospadias, Double outlet right ventricle, Micropenis, Neutropenia, V... ORPHA:163956
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Nephrocalcinosis, Hypothyroidism, Tubulointerstitial fibrosis, Hepatomegaly, Delayed puberty, Ane... ORPHA:79259
Illum Syndrome
Calcinosis, Arthrogryposis multiplex congenita, Apnea, Bradycardia OMIM:208155
Mandibuloacral Dysplasia Progeroid Syndrome
Elevated hepatic transaminase, Hepatomegaly, Mitral valve calcification, Tricuspid regurgitation,... OMIM:619127
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, Hypertension, Hypothyroidism ORPHA:449291
Poliomyelitis
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Hypoplasia of the mu... ORPHA:2912
Hutchinson-Gilford Progeria Syndrome
Myocardial infarction, Intracranial hemorrhage, Raynaud phenomenon, Mitral stenosis, Delayed mena... ORPHA:740
Double Outlet Left Ventricle
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ... ORPHA:3427
Hurler Syndrome
Hepatomegaly, Angina pectoris, Abnormal heart valve morphology, Camptodactyly of finger, Splenome... ORPHA:93473
Aicardi-Goutieres Syndrome 7
Hepatomegaly, Hemolytic anemia, Pancytopenia, Pneumonia, Hematemesis, Pericardial effusion, Splen... OMIM:615846
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Impaired myocardial contractility, Hypovolemic shock, Cardiomyopathy, Respiratory f... ORPHA:158687
Pseudo-Torch Syndrome 2
Elevated hepatic transaminase, Hepatomegaly, Acute respiratory distress syndrome, Cerebral hemorr... OMIM:617397
Arima Syndrome
Hepatomegaly, Proteinuria, Polyuria, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, Hematuri... OMIM:243910
Cockayne Syndrome Type 1
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Foot joint contracture, Protein... ORPHA:90321
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Glandular hypospadias,... OMIM:620306
Degcags Syndrome
Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Atrial septal defect, Diaphragmat... OMIM:619488
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatomegaly, Decreased HDL cholesterol concentration, Diabetes mellitus, Hypertriglyceridemia, A... ORPHA:280365
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Hemolytic anemia, Diabetes mellitus, Anuria, Pneumonia, Myocarditis, Dyspnea, Leuko... ORPHA:544482
Hardikar Syndrome
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal... OMIM:301068
Schwartz-Jampel Syndrome
Hip contracture, Skeletal muscle atrophy, Apnea, Shoulder flexion contracture, Elevated circulati... ORPHA:800
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Progressive flexion contractures, Hypertension, Transient hyperphenylalaninemia, Hyp... ORPHA:98808
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Hypertension, Hypothyroidism OMIM:617763
Monosomy 18P
Hypertension, Hypothyroidism ORPHA:1598
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Perimembranous ventricular septal defect, Transposition of the great arteries, Pulmonic stenosis,... OMIM:617877
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Long penis, Adrenogenita... OMIM:202010
Autosomal Recessive Polycystic Kidney Disease
Elevated gamma-glutamyltransferase level, Hyponatremia, Hypoventilation, Portal hypertension, Oli... ORPHA:731
Short Qt Syndrome 7
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation OMIM:620231
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Lymphatic Malformation 13
Mitral regurgitation, Atrial septal defect, Pulmonary arterial hypertension, Patent foramen ovale... OMIM:620244
Short Qt Syndrome 2
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... OMIM:609621
Autosomal Recessive Malignant Osteopetrosis
Hepatomegaly, Apnea, Abnormal pulmonary valve morphology, Splenomegaly, Hypocalcemia, Chronic rhi... ORPHA:667
Sarcoidosis
Heart block, Increased T cell count, Ventricular tachycardia, Nephrocalcinosis, Leukopenia, Tubul... ORPHA:797
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Elevated circulating creatine kinase con... OMIM:618775
Marshall-Smith Syndrome
Ventricular septal defect, Apnea, Airway obstruction, Premature ventricular contraction, Stridor,... OMIM:602535
Homozygous Familial Hypercholesterolemia
Angina pectoris, Sudden cardiac death, Myocardial infarction, Dyspnea, Tendon xanthomatosis, Hype... ORPHA:391665
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Elevated hepatic transaminase, Facial palsy, Elevated circulating creatine kinase concentration, ... OMIM:610131
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypospadias, Co... ORPHA:444077
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... ORPHA:226313
Sarcoidosis, Susceptibility To, 1
Hepatomegaly, Pancytopenia, Pericardial effusion, Splenomegaly, Dyspnea, Bronchiectasis, Hypercal... OMIM:181000
Werner Syndrome
Skeletal muscle atrophy, Renal neoplasm, Telangiectasia of the skin, Myocardial infarction, Conge... ORPHA:902
Classic Homocystinuria
Gastrointestinal hemorrhage, Hepatomegaly, Elevated hepatic transaminase, Pulmonary embolism, Int... ORPHA:394
Gitelman Syndrome
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Iron ... ORPHA:358
Combined Oxidative Phosphorylation Deficiency 41
Decreased circulating cortisol level, Elevated circulating creatine kinase concentration, Anemia,... OMIM:618838
Arterial Tortuosity Syndrome
Aortic regurgitation, Ventricular hypertrophy, Congenital diaphragmatic hernia, Flexion contractu... OMIM:208050
Incontinentia Pigmenti
Telangiectasia of the skin, Camptodactyly of finger, Eosinophilia, Congestive heart failure, Reti... ORPHA:464
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Ventricular septal defect, Hypospadias, Cardiomegaly, Flexion contracture, Micropenis, Hypertroph... OMIM:616897
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Respiratory failure requiring assisted ventilation, Anuria, Megacystis, Pyelonephritis, Bidirecti... OMIM:619351
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Hepatomegaly, Neonatal respira... OMIM:312870
Gaucher Disease, Type Iiic
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... OMIM:231005
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Cardiac arrest, Myocardial infarction, Congesti... ORPHA:3342
Cutis Marmorata Telangiectatica Congenita
Hypertension, Telangiectasia OMIM:219250
Postinfectious Vasculitis
Cerebral vasculitis, Viral hepatitis, Abnormal circulating protein concentration, Membranoprolife... ORPHA:48435
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Pheochromocytoma, Elevated urinary vanillylmandel... ORPHA:653
Mucopolysaccharidosis Type 2, Severe Form
Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... ORPHA:217085
Abetalipoproteinemia
Elevated hepatic transaminase, Hepatomegaly, Reticulocytosis, Decreased HDL cholesterol concentra... ORPHA:14
Sick Sinus Syndrome 4
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... OMIM:619464
Hallermann-Streiff Syndrome
Recurrent pneumonia, Telangiectasia, Hypertension, Tracheomalacia, Pulmonary arterial hypertension OMIM:234100
Lujo Hemorrhagic Fever
Shock, Elevated hepatic transaminase, Respiratory distress, Renal insufficiency, Crackles, Elevat... ORPHA:319213
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Hypertension, Hypoalbuminemia OMIM:610965
Brugada Syndrome 6
ST segment elevation, Ventricular fibrillation, Cardiac arrest OMIM:613119
Developmental And Epileptic Encephalopathy 101
Third degree atrioventricular block, Apnea, Limb joint contracture, Bradycardia OMIM:619814
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Diaphragmatic eventration, Neonatal respiratory distress, Ventricular septal defect... OMIM:620025
Primary Progressive Freezing Gait
Hypertension, Urinary incontinence ORPHA:75567
45,X/46,Xy Mixed Gonadal Dysgenesis
Prolonged QT interval, Tachycardia, Streak ovary, Bicuspid aortic valve, Hypospadias, Abnormality... ORPHA:1772
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal circulating enzyme concentration or activity, Abnormal heart valve morphology, Abnormal ... ORPHA:217093
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Hypertriglyceridemia, Spontaneous pneumothorax, Hypercholesterolemia, Po... OMIM:606721
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw... ORPHA:404443
Tangier Disease
Hypertriglyceridemia, Thrombocytopenia, Hepatosplenomegaly, Facial diplegia, Hypocholesterolemia,... ORPHA:31150
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Neonatal respiratory distress, Multiple joint contractures, Hypoventilat... ORPHA:70
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Hypertension, Nephrotic... OMIM:617729
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Spontaneous, recurrent epistaxis, Mitral valve calcification, Pancytopenia, Splenomegaly, Aortic ... ORPHA:2072
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... ORPHA:1358
Tuberous Sclerosis Complex
Respiratory distress, Renal insufficiency, Abnormality of the kidney, Pancreatic endocrine tumor,... ORPHA:805
Lymphoid Interstitial Pneumonia
Hepatomegaly, Crackles, Raynaud phenomenon, Dyspnea, Wheezing, Bronchiectasis, Hypoxemia, Restric... ORPHA:79128
Familial Multiple Nevi Flammei
Intracranial hemorrhage, Arrhythmia, Pulmonary embolism ORPHA:624
Spastic Paraplegia Type 2
Spastic/hyperactive bladder, Pulmonary embolism ORPHA:99015
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Tachypnea, Aortic valve atresia, H... OMIM:220111
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia, Goiter, Elevated circulat... ORPHA:90673
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Elbow flexion contracture, ... OMIM:245600
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Von Hippel-Lindau Syndrome
Hypertension, Renal cell carcinoma, Pheochromocytoma, Multiple renal cysts, Paraganglioma, Polycy... OMIM:193300
Stuve-Wiedemann Syndrome 1
Apnea, Elbow flexion contracture, Respiratory insufficiency, Contracture of the proximal interpha... OMIM:601559
Atrial Tachyarrhythmia With Short Pr Interval
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... OMIM:108950
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Cardiomegaly, Renovascular hypertension, Hypertension, Ca... ORPHA:3472
Systemic Lupus Erythematosus
Hemolytic anemia, Proteinuria, Lupus nephritis, Pyuria, Raynaud phenomenon, Hematuria, Hypertensi... ORPHA:536
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Urinary incontinence, Orthostatic hypotension due to autonomic dysfunction, Cardi... OMIM:105210
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Precocious puberty, Renovascular hypertension, Abno... ORPHA:97685
Wagro Syndrome
Hypertension, Nephroblastoma, Proteinuria OMIM:612469
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Calcinosis, Hypergonadotropic hypogonadism, Decreased response to growth h... ORPHA:79443
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Oligosacchariduria, Cardiomegaly ORPHA:3137
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic regurgitation, Ventricular hypertrophy, Tricuspid regurgitation, Mitral stenosis, Tricuspi... OMIM:143095
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Pulmonary embolism ORPHA:745
Tetrasomy 9P
Renal dysplasia, Pericarditis, Myositis, Recurrent urinary tract infections, Dextrocardia, Raynau... ORPHA:3310
Thyrotoxic Periodic Paralysis
Decreased urinary potassium, Thyrotoxicosis with diffuse goiter, Impaired myocardial contractilit... ORPHA:79102
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... ORPHA:95699
Fragile X-Associated Tremor/Ataxia Syndrome
Pollakisuria, Hypertension, Hypotension, Urinary bladder sphincter dysfunction, Hypothyroidism ORPHA:93256
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hypertension, Scapular winging, Mitral valve prolapse OMIM:616914
Myhre Syndrome
Abnormal penis morphology, Hypospadias, Precocious puberty, Epispadias, Skeletal muscle hypertrop... ORPHA:2588
Alexander Disease
Diabetes mellitus, Facial palsy, Sudden cardiac death, Precocious puberty, Respiratory insufficie... ORPHA:58
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Prolonged QRS complex, Decreased response to growth hormone stimulation ... ORPHA:273
Encephalocraniocutaneous Lipomatosis
Pulmonary arterial hypertension, Aortic valve stenosis, Tricuspid valve prolapse ORPHA:2396
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Pulmonary embolism, Intracranial hemorrhage, Cough... ORPHA:3260
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Melnick-Needles Syndrome
Ureteral stenosis, Mitral valve prolapse, Tricuspid valve prolapse, Pulmonary arterial hypertensi... OMIM:309350
Blau Syndrome
Pericarditis, Camptodactyly of finger, Tendonitis, Hypertension, Flexion contracture of toe OMIM:186580
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Urinary incontinence... ORPHA:64
Hunter-Macdonald Syndrome
Aortic regurgitation, Bicuspid aortic valve, Hypospadias, Mitral valve prolapse, Hypertension, Mi... OMIM:611962
Trichorhinophalangeal Syndrome, Type Ii
Scapular winging, Bicuspid aortic valve, Myocardial infarction, Partial anomalous pulmonary venou... OMIM:150230
Fontaine Progeroid Syndrome
Atrial septal defect, Tricuspid regurgitation, Bicuspid aortic valve, Hypoplasia of the abdominal... OMIM:612289
Viss Syndrome
Epidural hemorrhage, Ventricular septal defect, Coronary sinus enlargement, Patent foramen ovale,... OMIM:619472
Brugada Syndrome 5
ST segment elevation, Bundle branch block, Ventricular fibrillation OMIM:612838
Beckwith-Wiedemann Syndrome
Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Cardiomegaly, Adrenocortical carcinoma,... OMIM:130650
Cushing Disease
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... ORPHA:96253
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Bradycardia, Partial development of the p... OMIM:608800
Erythrocytosis, Familial, 8
Splenomegaly, Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:222800
Yellow Fever
Shock, Renal insufficiency, Neutrophilia, Anuria, Elevated circulating aspartate aminotransferase... ORPHA:99829
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial s... OMIM:306955
Scalp-Ear-Nipple Syndrome
Ureteral duplication, Recurrent urinary tract infections, Abnormality of the kidney, Pyelonephrit... ORPHA:2036
Liver Disease, Severe Congenital
Cardiomegaly, Abnormal left ventricular function, Leukopenia, Aminoaciduria, Lymphocytosis, Hypoc... OMIM:619991
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Pulmonary embolism ORPHA:743
Acitretin/Etretinate Embryopathy
Conotruncal defect, Hypoplasia of the thymus, Third degree atrioventricular block, Bradycardia, A... ORPHA:40366
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... OMIM:618278
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypoxemia, Pulmonary arterial hypertension, Micropenis, Hypospadias ORPHA:2282
Mucopolysaccharidosis Type 2
Hepatomegaly, Abnormal heart valve morphology, Abnormal pulmonary valve morphology, Splenomegaly,... ORPHA:580
Plague
Respiratory distress, Hepatomegaly, Tachycardia, Hematemesis, Splenomegaly, Endocarditis, Acute i... ORPHA:707
Aneurysm-Osteoarthritis Syndrome
Aortic regurgitation, Atrial fibrillation, Camptodactyly of finger, Abnormal heart morphology, Mi... ORPHA:284984
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Retinal hemorrhage, Stage 5 ch... OMIM:609049
Ctcf-Related Neurodevelopmental Disorder
Phimosis, Mitral regurgitation, Joint contracture of the 5th finger, Prolonged neonatal jaundice,... ORPHA:363611
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Hepatomegaly, Increased iduronate sulfatase level, Diastasis recti, Increas... OMIM:252500
Prader-Willi Syndrome
Diabetes mellitus, Decreased response to growth hormone stimulation test, Precocious puberty, Dec... ORPHA:739
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Decreased HDL cholesterol c... OMIM:256040
Scalp-Ear-Nipple Syndrome
Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, Congestive heart failure, Renal h... OMIM:181270
Erythrocytosis, Familial, 4
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:611783
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Hypertension ORPHA:1555
Erythrocytosis, Familial, 5
Increased hematocrit, Polycythemia, Increased hemoglobin, Elevated circulating erythropoietin con... OMIM:617907
Pulmonary Alveolar Microlithiasis
Hepatomegaly, Mitral valve calcification, Calcium nephrolithiasis, Right ventricular failure, Inc... ORPHA:60025
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle atrophy, Ab... ORPHA:2463
Sheehan Syndrome
Hyponatremia, Orthostatic hypotension, Decreased circulating cortisol level, Reduced circulating ... ORPHA:91355
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Neonatal hyperbilirubinemia, Pituitary hypothyroidis... ORPHA:90674
Acute Transverse Myelitis
Orthostatic hypotension, Decreased circulating copper concentration, Urinary incontinence, Subara... ORPHA:139417
Familial Chylomicronemia Syndrome
Hypertriglyceridemia, Diabetes mellitus, Pulmonary embolism, Jaundice, Hyperlipidemia, Hepatosple... ORPHA:444490
Cantú Syndrome
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly ORPHA:1517
Atypical Werner Syndrome
Skeletal muscle atrophy, Fasting hyperinsulinemia, Renal neoplasm, Abnormal circulating leptin co... ORPHA:79474
Distal Deletion 12Q
Diabetes mellitus, Maturity-onset diabetes of the young, Ectopic kidney, Pituitary adenoma, Elbow... ORPHA:96149
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:963
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, Ventricular septal defect, Interphalangeal joint contracture of finger, Diastasis r... ORPHA:96334
Cockayne Syndrome
Skeletal muscle atrophy, Urinary incontinence, Congenital contracture, Hepatomegaly, Renal hypopl... ORPHA:191
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Hepatomegaly, Ureteral duplication, Stage 5 chronic kidney disease, Renal cyst, Hepatosplenomegal... OMIM:266920
Cockayne Syndrome A
Hip contracture, Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypert... OMIM:216400
Gaucher Disease, Perinatal Lethal
Respiratory distress, Hepatomegaly, Apnea, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosp... OMIM:608013
Juvenile Polyposis Syndrome
Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Transient ischemic attack, Epistax... ORPHA:2929
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Diabetes mellitus, Cardiome... ORPHA:51
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphr... OMIM:309801
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysuria, Elevated circulating growth hormone co... ORPHA:314769
Fucosidosis
Hepatomegaly, Decreased muscle mass, Cardiomegaly, Mucopolysacchariduria, Hypothyroidism ORPHA:349
Bohring-Opitz Syndrome
Facial hypotonia, Apnea, Cardiomegaly, Bilateral wrist flexion contracture, Congenital contractur... ORPHA:97297
Cog1-Cdg
Pulmonary arterial hypertension, Atrial septal dilatation, Hepatosplenomegaly ORPHA:263508
Congenital Disorder Of Glycosylation, Type Im
Aspiration, Dilated cardiomyopathy, Bradycardia, Increased circulating free fatty acid level OMIM:610768
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve OMIM:613355
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Hypertension, Hypospadias OMIM:123790
Apert Syndrome
Hypertension, Respiratory insufficiency ORPHA:87
Cushing Syndrome Due To Ectopic Acth Secretion
Adrenal hyperplasia, Myocardial infarction, Pituitary corticotropic cell adenoma, Neoplasm of the... ORPHA:99889
Williams Syndrome
Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase concentration, M... ORPHA:904
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Generalized muscle hypertrophy, Respiratory insu... OMIM:139210
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Nephrocalcinosis, Early onset of sexual maturation, V... OMIM:194050
Keutel Syndrome
Sinusitis, Ventricular septal defect, Hypertension, Pulmonic stenosis, Emphysema, Chronic sinusit... OMIM:245150
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Atrial fibrillation, Bicuspid aortic valve, Subarachnoid hemorrhage, Pne... OMIM:613795
Mucopolysaccharidosis Type 3
Hepatomegaly, Cardiomegaly, Heparan sulfate excretion in urine, Splenomegaly, Flexion contracture... ORPHA:581
Beckwith-Wiedemann Syndrome
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Vesicoureter... ORPHA:116
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Thyroid agenesis, Elevated circulating thyroid-stimula... OMIM:218700
Cockayne Syndrome B
Hepatomegaly, Renal insufficiency, Proteinuria, Splenomegaly, Micropenis, Hypertension, Arrhythmia OMIM:133540
Smith-Lemli-Opitz Syndrome
Renal cyst, Hypoalbuminemia, Hypocholesterolemia, Atrial septal defect, Micropenis, Penoscrotal h... OMIM:270400
Familial Osteodysplasia, Anderson Type
Hypertension, Hyperuricemia ORPHA:2769
Behçet Disease
Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Myositis, Glomerulopathy, Renal ... ORPHA:117
Neurofibromatosis, Type I
Rhabdomyosarcoma, Hypertension, Pheochromocytoma, Renal artery stenosis, Parathyroid adenoma OMIM:162200
Beck-Fahrner Syndrome
Ventricular septal defect, Facial hypotonia, Cardiomegaly OMIM:618798
Orofaciodigital Syndrome I
Hypertension, Proteinuria, Polycystic kidney dysplasia, Abnormal heart morphology OMIM:311200
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Cardiomegaly ORPHA:79280
Au-Kline Syndrome
Chronic kidney disease, Dilatation of the renal pelvis, Hypertension, Vesicoureteral reflux, Hydr... OMIM:616580
Congenital Disorder Of Glycosylation, Type Iim
Ureteropelvic junction obstruction, Hypertension, Atrial septal defect, Vesicovaginal fistula, Ne... OMIM:300896
Lethal Congenital Contracture Syndrome 10
Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Macroglossia, Hypoplasia ... OMIM:617022
49,Xxxxy Syndrome
Hypoplasia of penis, Pulmonary embolism, Renal hypoplasia/aplasia, Asthma, Hypogonadism, Type II ... ORPHA:96264
48,Xxxy Syndrome
Hypoplasia of penis, Pulmonary embolism, Asthma, Hypogonadism, Type II diabetes mellitus, Renal d... ORPHA:96263
Orofaciodigital Syndrome Type 1
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Proteinuria, Hy... ORPHA:2750
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Decreased circulating dehydroepiandrosterone concentration, Decreased circulating androstenedione... OMIM:201750
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Ventricular septal defect, Shoulder flexion contracture, Muscular ventricular se... OMIM:210710
Erythrocytosis, Familial, 3
Increased red blood cell mass, Increased hematocrit, Increased hemoglobin OMIM:609820
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Hypocalcemia, Vesicoureteral reflux, Atrial septal defect, Hypothyroidi... ORPHA:567
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Urethral stricture, Abnormal blood ion concentration, Renal cyst, Aplasia/H... ORPHA:79404
Turner Syndrome Due To Structural X Chromosome Anomalies
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:99413
Mosaic Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:99228
Monosomy X
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:99226
Turner Syndrome
Prolonged QT interval, Elevated hepatic transaminase, Bicuspid aortic valve, Myocardial infarctio... ORPHA:881
Developmental And Epileptic Encephalopathy 95
Hepatomegaly, Multiple joint contractures, Cardiomegaly, Low alkaline phosphatase, Macroglossia, ... OMIM:618143
Fucosidosis
Hepatomegaly, Cardiomegaly, Splenomegaly, Flexion contracture, Vacuolated lymphocytes, Glycopepti... OMIM:230000
Neonatal Inflammatory Skin And Bowel Disease
Left ventricular hypertrophy ORPHA:294023
Erythrocytosis, Familial, 6
Increased hematocrit, Polycythemia, Increased hemoglobin OMIM:617980
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Elevated circulating growth hormone ... ORPHA:1359
Legius Syndrome
Acute monocytic leukemia, Paroxysmal atrial tachycardia, Nephrolithiasis, Mitral valve prolapse, ... ORPHA:137605
Neurofibromatosis Type 1
Abnormality of the upper urinary tract, Abnormality of the endocrine system, Precocious puberty, ... ORPHA:636
3-Methylglutaconic Aciduria, Type Viii
Apnea, Jaundice, Hypopnea, Respiratory failure, 3-Methylglutaric aciduria, 3-Methylglutaconic aci... OMIM:617248
Erythrocytosis, Familial, 7
Increased hematocrit, Polycythemia OMIM:617981
Yunis-Varon Syndrome
Ventricular septal defect, Hypospadias, Heart murmur, Cardiomyopathy, Aspiration pneumonia, Pulmo... OMIM:216340
Singleton-Merten Syndrome 1
Mitral valve calcification, Cardiomegaly, Congestive heart failure, Aortic valve calcification, P... OMIM:182250
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Neonatal respiratory distress, Neonatal insulin-dependent diabetes mellitus, Ventri... ORPHA:96191
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Renal dysplasia, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Unilateral renal agen... OMIM:308205
Vascular Ehlers-Danlos Syndrome
Telangiectasia of the skin, Transient ischemic attack, Abnormal heart valve morphology, Hypospadi... ORPHA:286
Sturge-Weber Syndrome
Conjunctival telangiectasia, Pulmonary embolism ORPHA:3205
Proteus Syndrome
Decreased muscle mass, Thymus hyperplasia, Sudden cardiac death, Pulmonary embolism, Enlarged pol... ORPHA:744

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Nppa

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Nppa.

No publications found that use IMPC mice or data for Nppa.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nppatm1(KOMP)Wtsi Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells

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