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Gene: Vav3 MGI:1888518

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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:
vav 3 oncogene
Synonyms:
Idd18.1,  A530094I06Rik

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 Vav3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Vav3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Late-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Orthos... ORPHA:556037
Early-Onset Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal sodium wasting, Orthos... ORPHA:556030
Corticosterone Methyloxidase Type Ii Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Orthostatic hypotension, Inc... OMIM:610600
Corticosterone Methyloxidase Type I Deficiency
Hyperkalemia, Hyponatremia, Decreased circulating aldosterone level, Renal salt wasting, Increase... OMIM:203400
Hypocalcemia, Autosomal Dominant 1
Hypokalemia, Nephrocalcinosis, Decreased glomerular filtration rate, Nephrolithiasis, Hypomagnese... OMIM:601198
Hereditary Amyloidosis With Primary Renal Involvement
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Tubulointerstitial fibrosis, ... ORPHA:85450
Autosomal Dominant Polycystic Kidney Disease
Abnormal systemic arterial morphology, Hypertension, Mitral valve prolapse, Pituitary growth horm... ORPHA:730
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Abnormality of the urinary ... OMIM:103900
Adrenocortical Carcinoma
Hypertension, Increased urinary cortisol level, Increased circulating androstenedione concentrati... ORPHA:1501
Pseudohypoaldosteronism, Type I, Autosomal Recessive
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... OMIM:264350
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Prolonged QT interval, Hypokalemia, A... ORPHA:251274
Familial Hypoaldosteronism
Hyperkalemia, Hyponatremia, Adrenal insufficiency, Decreased circulating aldosterone level, Ortho... ORPHA:427
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Nephrotic syndrome, Elevated circulating creatine kinase concentration, C... OMIM:617713
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Hypertension, Ventricular septal defect, Intracranial hemorrhage, Hypokalemi... ORPHA:369929
Bartter Syndrome, Type 3
Renal salt wasting, Hyperactive renin-angiotensin system, Hypokalemia, Increased urinary potassiu... OMIM:607364
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Hepatomegaly, Decreased plasma free carnitine, Ventricular hypertrophy, Bradycardia, Hyperalanine... OMIM:619048
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Hyperkalemia, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-angiotensin system, Hypera... OMIM:177735
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level, Hypokal... ORPHA:320
Oligomeganephronia
Bilateral renal hypoplasia, Renal tubular atrophy, Hypertension, Abnormal nephron morphology, Abn... ORPHA:2260
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Hyperaldostero... OMIM:613677
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Myopathy, Elevated circulating creatine kinase concentration, Supraventricular tachycardia, Cardi... OMIM:255100
East Syndrome
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hyperaldosteronism, Abnorm... ORPHA:199343
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Hypertension, Intracranial hemorrhage, Abnormal T-wave, Neoplasm of the adrenal gland, Decreased ... ORPHA:231625
Maternally-Inherited Diabetes And Deafness
Hypertrophic cardiomyopathy, Hypertension, Type II diabetes mellitus, Abnormal circulating lipid ... ORPHA:225
Acute Adrenal Insufficiency
Hyperkalemia, Hypercalcemia, Hyponatremia, Androgen insufficiency, Decreased circulating aldoster... ORPHA:95409
Hypokalemic Tubulopathy And Deafness
Renal salt wasting, Increased circulating renin level, Hyperaldosteronism OMIM:619406
Gitelman Syndrome
Prolonged QT interval, Hypokalemia, Palpitations, Ventricular tachycardia, Rhabdomyolysis, Hypoma... OMIM:263800
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Hypospadias, Hyponatremia, Hyperkalemia, Increased serum testosterone level, Decreased circulatin... ORPHA:90791
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Hypertension, Myopathy, Ragged-red muscle fibers, Left ventricular hypertrophy, Congestive heart ... OMIM:540000
Glycogen Storage Disease Ia
Decreased muscle mass, Focal segmental glomerulosclerosis, Hypertension, Hepatomegaly, Hyperlipid... OMIM:232200
Andersen-Tawil Syndrome
Dilated cardiomyopathy, Renal hypoplasia, Syncope, Renal tubular dysfunction, Prominent U wave, B... ORPHA:37553
Lcat Deficiency
Decreased HDL cholesterol concentration, Premature coronary artery atherosclerosis, Decreased glo... ORPHA:650
Generalized Pseudohypoaldosteronism Type 1
Hyperkalemia, Hyponatremia, Hypovolemic shock, Abnormal circulating aldosterone, Glucocortocoid-i... ORPHA:171876
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Episodic hyperhidrosis, Focal pancreatic isle... ORPHA:276575
Coproporphyria, Hereditary
Hypertension, Hepatomegaly, Tachycardia, Splenomegaly, Increased urinary porphobilinogen, Elevate... OMIM:121300
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Absent muscle dystrop... ORPHA:206546
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Trimethylaminuria
Trimethylaminuria, Hypertension, Tachycardia, Splenomegaly OMIM:602079
Preeclampsia/Eclampsia 1
Elevated hepatic transaminase, Hypertension, Proteinuria OMIM:189800
Fabry Disease
Hypertension, Lipiduria, Abnormal autonomic nervous system physiology, Urinary mulberry cells, Ve... OMIM:301500
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormality of blood circulation, Abnormal coronary artery morphology, Levotransposition of the g... ORPHA:860
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2
Renal tubular atrophy, Renal hypoplasia, Hypertension, Tubulointerstitial nephritis, Renal cortic... OMIM:174000
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Proximal amyotrophy, Hypertension, Increased urinary cortisol level, Macronodular adrenal hyperpl... ORPHA:189427
Preeclampsia
Hypertension, Elevated diastolic blood pressure, Elevated hepatic transaminase, Elevated circulat... ORPHA:275555
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Ex... ORPHA:276580
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Hypertension, Ventricular septal defect, Biventricular hypertrophy, Decreased circulating renin l... OMIM:615474
Primary Membranoproliferative Glomerulonephritis
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Renal insufficiency, Myocardial... ORPHA:54370
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Cerebral artery atherosclerosis, Hypertension, Nephrotic syndrome, Abnormal mitral valve morpholo... ORPHA:1192
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Tub... OMIM:602522
Glycogen Storage Disease Ib
Hypertension, Focal segmental glomerulosclerosis, Hepatomegaly, Hyperlipidemia, Decreased glomeru... OMIM:232220
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Decreased circulating renin level, Hypokalemia, Palpitations, ... ORPHA:231580
Glomerulopathy With Fibronectin Deposits 1
Hypertension, Nephrotic syndrome, Stage 5 chronic kidney disease, Microscopic hematuria, Proteinu... OMIM:137950
Hyperinsulinism Due To Ucp2 Deficiency
Hypertrophic cardiomyopathy, Syncope, Hepatomegaly, Episodic hyperhidrosis, Excessive insulin res... ORPHA:276556
Bartter Syndrome, Type 1, Antenatal
Hypercalcemia, Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyper... OMIM:601678
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyponatremia, Hypokalemia, Increased urinary potassium, Decreased glomerular filtration rate, Hyp... OMIM:613090
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... ORPHA:289548
Spastic Paraplegia-Nephritis-Deafness Syndrome
Hypertension, Proteinuria, Nephropathy ORPHA:2820
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy
Abnormal magnesium concentration, Hypokalemia, Increased serum prostaglandin E2, Proximal tubulop... OMIM:241150
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating follicle stimulating hormone level, Midshaft hypospadias, Urogenital sinus a... ORPHA:168558
Addison Disease
Androgen insufficiency, Adrenal hypoplasia, Type I diabetes mellitus, Renal salt wasting, Increas... ORPHA:85138
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:403
Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, And Electrolyte Imbalance
Renal salt wasting, Renal sodium wasting, Hypokalemia, Hypomagnesemia, Hypocalciuria, Renal potas... OMIM:612780
Familial Dilated Cardiomyopathy
Abnormal circulating creatine kinase concentration, Right ventricular dilatation, Atrial fibrilla... ORPHA:217607
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Gaisböck Syndrome
Hyperproteinemia, Hypertension, Elevated diastolic blood pressure, Nephrocalcinosis, Hyperuricemi... ORPHA:90041
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Coronary Artery Disease, Autosomal Dominant 2
Hypertension, Hyperlipidemia, Hypercholesterolemia, Myocardial infarction, Hypertriglyceridemia, ... OMIM:610947
Aapoaiv Amyloidosis
Abnormal cardiac ventricular function, Hyperlipidemia, Cardiac conduction abnormality, Diabetes m... ORPHA:439232
Wild Type Attr Amyloidosis
Hypertrophic cardiomyopathy, Hepatomegaly, Orthostatic hypotension due to autonomic dysfunction, ... ORPHA:330001
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Hypertension, Intracranial hemorrhage, Hypokalemia, Abnormal circulating ren... ORPHA:404
Nephrogenic Syndrome Of Inappropriate Antidiuresis
Hyponatremia, Decreased circulating renin level, Decreased serum creatinine, Elevated systolic bl... OMIM:300539
Hyperinsulinism Due To Hnf1A Deficiency
Syncope, Hepatomegaly, Maternal diabetes, Episodic hyperhidrosis, Excessive insulin response to g... ORPHA:324575
Gitelman Syndrome
Prominent U wave, Syncope, Tubulointerstitial nephritis, ST segment depression, Raynaud phenomeno... ORPHA:358
Tubular Renal Disease-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Hypocalcemic tetany, Pericardial effusion, Nephrocalcinosis, Abnormal ren... ORPHA:73224
Hydroxykynureninuria
Aminoaciduria, Renal tubular dysfunction, Tachycardia, Hypotension OMIM:236800
Lysinuric Protein Intolerance
Oroticaciduria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Decreased res... ORPHA:470
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Hypertrophic cardiomyopathy, Highly elevated creatine kinase, Skeletal muscle atrophy, Elevated c... ORPHA:368
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease
Hypertension, Decreased glomerular filtration rate, Renal insufficiency, Stage 5 chronic kidney d... OMIM:618061
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Renal dysplasia, Elevated circulating creatinine concentration, Left ventricular hy... OMIM:616733
Renal Failure, Progressive, With Hypertension
Hypertension, Elevated circulating creatinine concentration, Nephritis, Stage 5 chronic kidney di... OMIM:161900
Paragangliomas 6
Hypertension, Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Abnormal autonomic nervous system physiology, T... ORPHA:85451
Hemorrhagic Fever-Renal Syndrome
Tubulointerstitial nephritis, Decreased glomerular filtration rate, Melena, Chronic kidney diseas... ORPHA:340
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Intracranial hemorrhage, Increased circulating ... ORPHA:90795
Pure Autonomic Failure
Syncope, Orthostatic hypotension, Dysuria, Abnormality of circulating catecholamine level, Urinar... ORPHA:441
Pituitary Adenoma 1, Multiple Types
Hypertension, Increased serum insulin-like growth factor 1, Pituitary growth hormone cell adenoma... OMIM:102200
Orthostatic Hypotension 2
Orthostatic hypotension, Decreased glomerular filtration rate OMIM:618182
Attrv30M Amyloidosis
Atrioventricular block, Abnormal renal physiology, Cardiomegaly, Cardiomyopathy, Nephropathy, Arr... ORPHA:85447
Ectopic Aldosterone-Producing Tumor
Hypertension, Decreased circulating renin level, Hypokalemia, Epistaxis, Renal cortical adenoma, ... ORPHA:231632
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Renal salt wasting, Adrenal insufficiency, Adrenocorticotropic hormone excess, Hyperaldosteronism OMIM:613743
Nail-Patella-Like Renal Disease
Hypertension, Microscopic hematuria, Glomerulopathy, Proteinuria, Renal insufficiency ORPHA:2613
Congenital Disorder Of Glycosylation, Type It
Dilated cardiomyopathy, Hepatomegaly, Hydronephrosis, Ventricular septal defect, Intrahepatic cho... OMIM:614921
His Bundle Tachycardia
Neoplasm of the heart, Arrhythmia, Cardiomyopathy, Junctional ectopic tachycardia ORPHA:3283
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Elevated circulating creatine kinase concentration, Macroglossia, Fa... OMIM:613156
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Sudden cardiac death, Left ventricular hyper... OMIM:115210
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Hypokalemia, Hypochloremia, Medullary nephrocalcinosis, Increased circulating renin... OMIM:300971
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Hypospadias, Increased circulating progesterone, Elevated circulating follicle stimulating hormon... ORPHA:90793
Bartter Syndrome, Type 2, Antenatal
Hyperactive renin-angiotensin system, Renal juxtaglomerular cell hypertrophy/hyperplasia, Hypokal... OMIM:241200
Liddle Syndrome 1
Hypertension, Decreased circulating aldosterone level, Decreased circulating renin level, Hypokal... OMIM:177200
Morbid Obesity And Spermatogenic Failure
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Increased LDL c... OMIM:615703
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Aganglionic megacolon, Tachycardia, Patent ductus arteri... OMIM:613870
Variegate Porphyria
Porphyrinuria, Tachycardia OMIM:176200
Iga Nephropathy, Susceptibility To, 2
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:613944
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Nephrocalcinosis, Hematuria, Decreased glomerular filtration rate, Dys... ORPHA:93598
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Ethylmalonic aciduria, Hyperglutaminemia, Elevated circulating creatine kinase concentration, Dic... OMIM:619355
Aicardi-Goutieres Syndrome 9
Increased blood pressure, Micropenis, Hepatosplenomegaly, Acute pancreatitis, Portal hypertension... OMIM:619487
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Porphyria Variegata
Hyponatremia, Hypertension, Abnormal autonomic nervous system physiology, Inappropriate antidiure... ORPHA:79473
Iga Nephropathy, Susceptibility To, 3
Hypertension, IgA deposition in the glomerulus, Hematuria, Stage 5 chronic kidney disease, Mesang... OMIM:616818
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Focal Segmental Glomerulosclerosis 2
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Stage 5 chronic kidney dise... OMIM:603965
Al Amyloidosis
Gastrointestinal hemorrhage, Autonomic erectile dysfunction, Elevated circulating alkaline phosph... ORPHA:85443
Hyperinsulinism Due To Hnf4A Deficiency
Renal Fanconi syndrome, Hepatomegaly, Abnormal circulating fatty-acid concentration, Hyperinsulin... ORPHA:263455
Glycogen Storage Disease Ic
Hypertension, Focal segmental glomerulosclerosis, Spider hemangioma, Hepatomegaly, Hyperlipidemia... OMIM:232240
Hypertension, Early-Onset, Autosomal Dominant, With Severe Exacerbation In Pregnancy
Hypertension, Decreased circulating renin level, Decreased circulating aldosterone level OMIM:605115
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Elevated circulating creatine kinas... ORPHA:86812
Focal Segmental Glomerulosclerosis 1
Hypertension, Focal segmental glomerulosclerosis, Hyperlipidemia, Stage 5 chronic kidney disease,... OMIM:603278
Myofibrillar Myopathy 10
Ankle flexion contracture, Elevated circulating creatine kinase concentration, Increased QRS volt... OMIM:619040
Fibronectin Glomerulopathy
Cerebral hemorrhage, Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, ... ORPHA:84090
Lessel-Kubisch Syndrome
Hypogonadism, Renal hypoplasia, Hypertension, Renal insufficiency OMIM:618681
Carnitine-Acylcarnitine Translocase Deficiency
Premature ventricular contraction, Hepatomegaly, Elevated circulating creatine kinase concentrati... OMIM:212138
Glomerulopathy With Fibronectin Deposits 2
Hypertension, Nephrotic syndrome, Renal cell carcinoma, Stage 5 chronic kidney disease, Microscop... OMIM:601894
Snakebite Envenomation
Hyponatremia, Intracranial hemorrhage, Epistaxis, Tachycardia, Cerebral ischemia, Cardiogenic sho... ORPHA:449285
Congenital Pulmonary Veins Atresia Or Stenosis
Hypertension, Abnormal cardiac septum morphology ORPHA:3188
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Left ventricular hypertrophy, Cardiomyopathy, Decreased muscle glycogen ... OMIM:611556
Hereditary Renal Hypouricemia
Hypouricemia, Uric acid urolithiasis independent of gout, Abnormal renal physiology, Hematuria, D... ORPHA:94088
Idiopathic Non-Lupus Full-House Nephropathy
Hypertension, Abnormal glomerular mesangium morphology, Nephrotic syndrome, Elevated circulating ... ORPHA:567544
Coronary Artery Disease, Autosomal Dominant, 1
Hypercholesterolemia, Hypertension, Myocardial infarction OMIM:608320
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Wolff-Parkinson-White syndrome, Left ventricular hypertrophy OMIM:607487
Tetanus
Hypertension, Elevated urinary epinephrine, Elevated circulating creatine kinase concentration, T... ORPHA:3299
Obesity Due To Sim1 Deficiency
Abnormal autonomic nervous system physiology, Hyperinsulinemia, Postural hypotension with compens... ORPHA:369873
Cardiomyopathy, Familial Hypertrophic, 8
Hypertrophic cardiomyopathy, Left atrial enlargement, Endocardial fibrosis, Palpitations, Restric... OMIM:608751
Pauci-Immune Glomerulonephritis
Macroscopic hematuria, Tubulointerstitial nephritis, Decreased glomerular filtration rate, Elevat... ORPHA:93126
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Arrhythmia, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11
Syncope, Ventricular arrhythmia, Palpitations, Sudden cardiac death, Right ventricular cardiomyop... OMIM:610476
Paget Disease Of Bone 6
Left ventricular hypertrophy, Elevated circulating alkaline phosphatase concentration, Coronary a... OMIM:616833
Hereditary Coproporphyria
Hyponatremia, Proximal muscle weakness in lower limbs, Porphyrinuria, Tachycardia, Dark urine, In... ORPHA:79273
Cirrhotic Cardiomyopathy
Left atrial enlargement, Ventricular arrhythmia, Third heart sound, Jaundice, Global systolic dys... ORPHA:57777
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Palpitations, Ventricu... OMIM:608758
Pheochromocytoma--Islet Cell Tumor Syndrome
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... OMIM:171420
Infantile Bartter Syndrome With Sensorineural Deafness
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Nephrocalcinosis, Increased urin... ORPHA:89938
Multiple Endocrine Neoplasia, Type Iia
Hypertension, Pheochromocytoma, Aganglionic megacolon, Elevated urinary epinephrine, Elevated uri... OMIM:171400
Arrhythmogenic Right Ventricular Dysplasia, Familial, 4
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602087
Apparent Mineralocorticoid Excess
Hypertension, Decreased circulating renin level, Hypokalemia, Decreased circulating aldosterone l... OMIM:218030
Phosphoribosylpyrophosphate Synthetase Superactivity
Hypertension, Abnormal aortic morphology, Cardiomyopathy, Hyperuricemia, Renal insufficiency, Arr... ORPHA:3222
Coronary Arterial Fistula
Coronary artery aneurysm, Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Vascular dila... ORPHA:2041
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment
Elevated circulating creatinine concentration, Decreased glomerular filtration rate, Nephropathy OMIM:242530
Focal Segmental Glomerulosclerosis 5
Hypertension, Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease, Microscopic hem... OMIM:613237
Acquired Aneurysmal Subarachnoid Hemorrhage
Cerebral hemorrhage, Syncope, Hypertension, ST segment depression, Prolonged QTc interval, Cerebr... ORPHA:90065
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Persistent left superior vena cava, Abnormal ... OMIM:614954
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hypertrophic cardiomyopathy, Hepatomegaly, Macroglossia, Elevated circulating creatine kinase con... ORPHA:308552
Malignant Hyperthermia, Susceptibility To, 1
Hyperkalemia, Myoglobinuria, Elevated circulating creatine kinase concentration, Tachycardia, Rha... OMIM:145600
Focal Segmental Glomerulosclerosis 3, Susceptibility To
Hypertension, Focal segmental glomerulosclerosis, Hematuria, Proteinuria, Renal insufficiency OMIM:607832
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Decreased liver function, Elevated hepatic transaminase, Hyperalani... OMIM:616974
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy, Bradycardia, Hyperalaninemia OMIM:614654
Rowley-Rosenberg Syndrome
Cor pulmonale, Hypertension, Right ventricular hypertrophy, Pulmonary arterial hypertension, Amin... OMIM:268500
Adenine Phosphoribosyltransferase Deficiency
Macroscopic hematuria, Hypertension, Urinary hesitancy, Urinary retention, Atrial fibrillation, D... ORPHA:976
Leprechaunism
Hypertrophic cardiomyopathy, Central hypothyroidism, Hepatomegaly, Skeletal muscle atrophy, Hypok... ORPHA:508
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Tachycardia, Chemodectoma,... OMIM:605373
Myh7-Related Late-Onset Scapuloperoneal Muscular Dystrophy
Left anterior fascicular block, Shoulder girdle muscle atrophy, Abnormal left ventricular functio... ORPHA:437572
Neuroleptic Malignant Syndrome
Hypernatremia, Pulmonary embolism, Elevated circulating alkaline phosphatase concentration, Hyper... ORPHA:94093
Iga Nephropathy, Susceptibility To, 1
Hypertension, IgA deposition in the glomerulus, Hematuria, Nephritis, Stage 5 chronic kidney dise... OMIM:161950
Variant Abeta2M Amyloidosis
Cardiac amyloidosis, Abnormal vascular morphology, Reduced ejection fraction, Abnormal skeletal m... ORPHA:314652
Plin1-Related Familial Partial Lipodystrophy
Hypertension, Insulin-resistant diabetes mellitus at puberty, Hypertriglyceridemia, Calf muscle h... ORPHA:280356
Lipodystrophy, Familial Partial, Type 4
Hypertension, Hypertriglyceridemia, Skeletal muscle hypertrophy, Diabetes mellitus OMIM:613877
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Riboflavin Transporter Deficiency
Hypertension, Optic disc pallor, Skeletal muscle atrophy, Diabetes insipidus, Abnormal cranial ne... ORPHA:97229
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Palpita... OMIM:168000
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemic hypoglycemia, Tachycardia, Pancreatic islet-cell hyperplasia, Hyperhidrosis, Hyp... ORPHA:276608
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Relapsing Fever
Abnormality of the urinary system, Hematuria, Elevated circulating creatinine concentration, Epis... ORPHA:91547
Frasier Syndrome
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Streak ovary, Increased cir... ORPHA:347
Fabry Disease
Hyperlipidemia, Achalasia, Transient ischemic attack, Nephropathy, Hypertrophic cardiomyopathy, H... ORPHA:324
Arrhythmogenic Right Ventricular Dysplasia, Familial, 3
Right ventricular cardiomyopathy, Focal necrosis of right ventricular muscle cells, T-wave invers... OMIM:602086
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration
Hypertrophic cardiomyopathy, Optic atrophy, Myoglobinuria, Premature pubarche, Elevated circulati... OMIM:616878
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypertension, Increased serum testosterone level, Decreased circulating aldosterone level, Increa... OMIM:202010
Amyloidosis, Familial Visceral
Hypertension, Hepatomegaly, Nephrotic syndrome, Hematuria, Splenomegaly, Nephropathy, Proteinuria OMIM:105200
Cardiac Diverticulum
Bicuspid aortic valve, Syncope, Tricuspid stenosis, Abnormal coronary artery origin, Mitral steno... ORPHA:1686
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Paroxysmal atrial tachycardia, Tricuspid regurgitation, Left ventricular... OMIM:614022
Familial Partial Lipodystrophy, Köbberling Type
Hypertension, Hepatomegaly, Pancreatitis, Hyperinsulinemia, Diabetes mellitus, Coronary artery at... ORPHA:79084
Cirrhosis, Familial
Hypertension, Increased level of L-fucose in urine, Increased level of propylene glycol in blood,... OMIM:215600
Carnitine-Acylcarnitine Translocase Deficiency
Hepatomegaly, Ventricular tachycardia, Dicarboxylic aciduria, Cardiomyopathy, Elevated creatine k... ORPHA:159
Myotonic Dystrophy 2
Type 2 muscle fiber atrophy, Elevated circulating follicle stimulating hormone level, Elevated ci... OMIM:602668
Arrhythmogenic Right Ventricular Dysplasia, Familial, 1
Sudden cardiac death, Right ventricular cardiomyopathy, Ventricular arrhythmia OMIM:107970
C3 Glomerulopathy
Hypertension, Nephrotic syndrome, Hematuria, Elevated circulating creatinine concentration, Stage... ORPHA:329918
Obesity Due To Melanocortin 4 Receptor Deficiency
Hypertension, Type II diabetes mellitus, Hypertriglyceridemia, Hyperinsulinemia ORPHA:71529
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Lacticaciduria, Le... OMIM:619167
Cardiomyopathy, Familial Hypertrophic, 17
Ventricular tachycardia, Palpitations, Cardiomyopathy, Left ventricular hypertrophy, Myocardial f... OMIM:613873
Pituitary Gigantism
Hypertrophic cardiomyopathy, Type II diabetes mellitus, Increased serum insulin-like growth facto... ORPHA:99725
Non-Functioning Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Episodic hyperhidrosis, Eleva... ORPHA:94080
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Liddle Syndrome
Hypertension, Hypokalemia, Cerebral ischemia, Nephropathy, Renal insufficiency, Arrhythmia ORPHA:526
Alstrom Syndrome
Dilated cardiomyopathy, Hypertension, Chronic active hepatitis, Decreased HDL cholesterol concent... OMIM:203800
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Skeletal muscle atrophy, Elevated circulat... OMIM:615418
Potocki-Shaffer Syndrome
Hypertension, Micropenis, Hypothyroidism, Nephroblastoma, Delayed puberty ORPHA:52022
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Lipodystrophy, Congenital Generalized, Type 4
Hepatomegaly, Prolonged QT interval, Skeletal muscle hypertrophy, Atrial fibrillation, Elevated c... OMIM:613327
Overlap Myositis
Hypertension, Perifascicular muscle fiber atrophy, Elevated circulating creatine kinase concentra... ORPHA:206572
Heme Oxygenase 1 Deficiency
Hypertension, Hepatomegaly, Hematuria, Nephritis, Epistaxis, Increased circulating ferritin conce... OMIM:614034
Tangier Disease
Hepatomegaly, Decreased HDL cholesterol concentration, Facial diplegia, Splenomegaly, Left ventri... OMIM:205400
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613874
Autosomal Dominant Progressive External Ophthalmoplegia
Dilated cardiomyopathy, Ventricular arrhythmia, Goiter, Quadriceps muscle weakness, Diabetes mell... ORPHA:254892
Double Outlet Right Ventricle
Ventricular septal defect, Hypoparathyroidism, Truncus arteriosus, Double outlet right ventricle,... ORPHA:3426
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Hypospadias, Hypertension, Adrenal hyperplasia, Adrenogenital syndrome, Renal salt wasting OMIM:201910
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Skeletal myopathy, Mitral regurgitation, Chronic hepatic failure, Cardiomyopa... ORPHA:746
Malignant Hyperthermia Of Anesthesia
Hyperkalemia, Necrotizing myopathy, Premature ventricular contraction, Myoglobinuria, Ventricular... ORPHA:423
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Maternal diabetes, Reduced ejection fraction, Supraventricular tachycardia,... ORPHA:45452
Intracranial Hypertension, Idiopathic
Hypertension, Papilledema OMIM:243200
Liddle Syndrome 2
Hypokalemia, Hypertension, Decreased circulating renin level OMIM:618114
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Dilated cardiomyopathy, Hypoproteinemia, Ventricular septal defect, Hepatomegaly, Prolonged QT in... ORPHA:26793
Pheochromocytoma
Episodic hypertension, Hypercalcemia, Cerebral hemorrhage, Tachycardia, Elevated urinary norepine... OMIM:171300
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Elevated circulating creatine kinase concentration, Ventric... OMIM:600649
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Hydronephrosis, Diabetes insipidus, Diabetes mellitus, Hydroureter, Abnormal auton... OMIM:598500
Cocaine Intoxication
Tubulointerstitial nephritis, Ventricular arrhythmia, Diffuse alveolar hemorrhage, Supraventricul... ORPHA:90068
Distal Renal Tubular Acidosis
Hyperphosphaturia, Aminoaciduria, Hypokalemia, Nephrocalcinosis, Proximal tubulopathy, Decreased ... ORPHA:18
Acute Intermittent Porphyria
Hyponatremia, Proximal muscle weakness in lower limbs, Hypertension, Urinary retention, Dysuria, ... ORPHA:79276
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Absent ankle pulse, Supraventricular tachycardia, Myocardial infarction, Ab... ORPHA:90064
Incessant Infant Ventricular Tachycardia
Cardiac rhabdomyoma, Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supra... ORPHA:45453
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Hypertension, Ventricular septal defect, Patent ductus arteriosus, Decreased liver function, Arrh... OMIM:617021
Lipodystrophy, Familial Partial, Type 1
Hypertension, Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Acute panc... OMIM:608600
Alkaptonuria
Mitral valve calcification, Decreased glomerular filtration rate, Coronary artery calcification, ... OMIM:203500
Multicentric Carpotarsal Osteolysis Syndrome
Hypertension, Proteinuria, Renal insufficiency, Nephropathy OMIM:166300
Alagille Syndrome 2
Renal hypoplasia, Hypertension, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hem... OMIM:610205
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Palpitations, Ventricular hypertrophy, Ventricular tachycardia, Shoulder g... ORPHA:263297
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Tubulointerstitial nephritis, Nephrotic syndrome, Decreased glomerular filtration rate, Chronic k... ORPHA:488627
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Hypokalemia, Palpitations, Tachycardia, Hyperthyroidism, Rhabdomyolysis OMIM:188580
Arterial Calcification, Generalized, Of Infancy, 2
Hypertension, Nephrocalcinosis, Coronary artery calcification, Myocardial infarction, Congestive ... OMIM:614473
Hyperthyroidism, Familial Gestational
Hyperthyroidism, Increased circulating T4 level, Decreased thyroid-stimulating hormone level, Tac... OMIM:603373
Xfe Progeroid Syndrome
Hypertension, Optic atrophy, Elevated hepatic transaminase, Proteinuria, Renal insufficiency OMIM:610965
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Increased circu... OMIM:615954
Car T Cell Therapy-Associated Cytokine Release Syndrome
Decreased urine output, Reduced ejection fraction, Elevated circulating creatinine concentration,... ORPHA:542323
Diarrhea 1, Secretory Chloride, Congenital
Hyponatremia, Hyperactive renin-angiotensin system, Hypokalemia, Hypochloremia, Hyperaldosteronism OMIM:214700
Glycogen Storage Disease Due To Acid Maltase Deficiency
Thoracic aortic aneurysm, Oligosacchariduria, Basilar artery calcification, Transient ischemic at... ORPHA:365
Takayasu Arteritis
Hypertrophic cardiomyopathy, Hypertension, Ascending tubular aorta aneurysm, Abnormal endocardium... ORPHA:3287
Pparg-Related Familial Partial Lipodystrophy
Hypertrophic cardiomyopathy, Abnormality of skeletal muscle fiber size, Myopathy, Hypertension, M... ORPHA:79083
Senior-Loken Syndrome
Chronic kidney disease, Nephronophthisis, Hypertension, Stage 5 chronic kidney disease ORPHA:3156
Sneddon Syndrome
Hypertension, Intracranial hemorrhage, Arterial stenosis, Nephropathy ORPHA:820
Nephronophthisis 2
Hyperkalemia, Hypertension, Pulmonary insufficiency, Chronic tubulointerstitial nephritis, Nephro... OMIM:602088
Romano-Ward Syndrome
Syncope, Sinus bradycardia, Abnormal T-wave, Ventricular arrhythmia, Hypokalemia, Torsade de poin... ORPHA:101016
Cardiomyopathy, Dilated, 1B
Dilated cardiomyopathy, Ventricular arrhythmia, Vascular dilatation, Congestive heart failure, Im... OMIM:600884
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Atrial fibrillation, Cardiomyopathy OMIM:613876
Seckel Syndrome 10
Hypertension, Abdominal aortic aneurysm, Elevated circulating follicle stimulating hormone level,... OMIM:617253
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Right ventricular dilatation, Atrial fibrillation, Systolic heart murmur, Ca... ORPHA:99105
Cardiomyopathy, Familial Hypertrophic, 16
Atrial fibrillation, Ventricular tachycardia, Left bundle branch block, Left ventricular hypertro... OMIM:613838
Bronchial Neuroendocrine Tumor
Right ventricular failure, Facial telangiectasia, Hepatomegaly, Abnormal pulmonary valve cusp mor... ORPHA:97287
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Joubert Syndrome 35
Recurrent urinary tract infections, Multicystic kidney dysplasia, Hydronephrosis, Renal fibrosis OMIM:618161
Primary Pigmented Nodular Adrenocortical Disease
Proximal amyotrophy, Cardiac myxoma, Increased urinary cortisol level, Hypertension, Adrenal hype... ORPHA:189439
Truncus Arteriosus
Truncus arteriosus, Hypoplasia of the thymus, Abnormal coronary artery morphology, Patent ductus ... ORPHA:3384
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Hypertension, Telangiectasia, Weakness of facial musculature, Elevated circulating creatinine con... ORPHA:247691
Scorpion Envenomation
Myocarditis, Prominent U wave, Cardiac conduction abnormality, ST segment depression, Acute pancr... ORPHA:466677
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Dilated cardiomyopathy, Hypertension, Cerebral hemorrhage, Moyamoya phenomenon, Coronary artery a... ORPHA:280679
Hyperaldosteronism, Familial, Type Iv
Hypertension OMIM:617027
Serotonin Syndrome
Hypertension, Abnormality of the autonomic nervous system, Tachycardia, Acute kidney injury, Hepa... ORPHA:43116
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Stress urinary incontinence, Cerebral... ORPHA:136
Abdominal Obesity-Metabolic Syndrome 1
Hypertension OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Hypertension OMIM:605572
Drug-Induced Autoimmune Hemolytic Anemia
Tachycardia, Increased total bilirubin, Splenomegaly, Congestive heart failure, Abnormal urinary ... ORPHA:90037
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Left ventricular hypertrophy, Camptodactyly, Renal insufficiency OMIM:611209
Methanol Poisoning
Cerebral hemorrhage, Hypertension, Intracranial hemorrhage, Type II diabetes mellitus, Hyperlipid... ORPHA:31825
Von Hippel-Lindau Disease
Myocarditis, Hypertension, Adrenal pheochromocytoma, Pancreatic endocrine tumor, Pancreatic islet... ORPHA:892
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Hypertension, Pelvic kidney, Glomerulo... ORPHA:93101
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Atrial Septal Defect, Ostium Primum Type
Left atrial enlargement, Syncope, Third heart sound, Abnormally loud pulmonic component of the se... ORPHA:99106
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Hypertrophic cardiomyopathy, Hypertension, Abnormal heart valve morphology, Congestive heart fail... ORPHA:1345
Renal Nutcracker Syndrome
Syncope, Vulval varicose vein, Orthostatic hypotension, Hematuria, Tachycardia, Microscopic hemat... ORPHA:71273
Familial Cervical Artery Dissection
Hypertension, Recurrent cerebral hemorrhage, Dilatation of the cerebral artery, Facial palsy, Cer... ORPHA:36382
Congenital Aortic Valve Stenosis
Abnormal T-wave, Abnormal left ventricular function, Reduced ejection fraction, Angina pectoris, ... ORPHA:3093
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Patent ductus arteriosus, Hepatosplenomegaly, Hypertrophic cardiomyopathy, Nephrotic syndrome, Mi... ORPHA:505248
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Elevated urinary epinephrine, Elevated urinary norepinephrine, Cer... ORPHA:29072
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Tako-Tsubo Cardiomyopathy
Syncope, Ventricular arrhythmia, Mildly reduced ejection fraction, ST segment depression, Low-out... ORPHA:66529
Sporadic Pheochromocytoma/Secreting Paraganglioma
Cerebral hemorrhage, Hypercalcemia, Paraganglioma of head and neck, Extraadrenal pheochromocytoma... ORPHA:276621
Caribbean Parkinsonism
Orthostatic hypotension, Autonomic bladder dysfunction, EMG: myopathic abnormalities, Abnormal au... ORPHA:97355
Acquired Generalized Lipodystrophy
Hypertension, Myopathy, Hepatomegaly, Abnormal circulating lipid concentration, Insulin-resistant... ORPHA:79086
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... OMIM:619566
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Optic disc pallor OMIM:618632
Fanconi Renotubular Syndrome 5
Hypertension, Tubulointerstitial fibrosis, Hypophosphatemia, Stage 5 chronic kidney disease, Glyc... OMIM:618913
Aortic Arch Interruption
Bicuspid aortic valve, Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Intermitte... ORPHA:2299
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Goiter, Cerebral vasculitis, Hypothyroidism, Hashimoto thyroiditis, Abnormal autono... ORPHA:83601
Congenitally Corrected Transposition Of The Great Arteries
Third degree atrioventricular block, Cardiac conduction abnormality, Single ventricle, Double out... ORPHA:216694
Amyloidosis, Hereditary, Transthyretin-Related
Orthostatic hypotension due to autonomic dysfunction, Cardiomegaly, Cardiomyopathy, Urinary incon... OMIM:105210
Cardiomyopathy, Dilated, 1P
Dilated cardiomyopathy, Reduced systolic function, Congestive heart failure, Ventricular arrhythmia OMIM:609909
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Abnormal heart morphology, Tachycardia, Hyperhidrosis, Abnormal enzyme/coenzym... ORPHA:79264
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hypertension OMIM:166990
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Presyncope, Congestive ... OMIM:604400
Complete Atrioventricular Septal Defect
Right ventricular failure, Left-to-right shunt, Third heart sound, Abnormal EKG, Abnormal P wave,... ORPHA:1329
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12
Syncope, Ventricular arrhythmia, Ventricular tachycardia, Right ventricular cardiomyopathy, Prolo... OMIM:611528
Polyarteritis Nodosa
Hypertension, Pericarditis, Cardiomyopathy, Raynaud phenomenon, Elevated circulating C-reactive p... ORPHA:767
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Hypokalemia, Palpitations, Tachycardia, Hyperthyroidism OMIM:613239
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Elevated circulating creatine kinase concentration, Muscular dystrophy, Left ventricular hypertrophy OMIM:613153
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Optic atrophy, Bradycardia, Flexion contracture, Abnormal autonomic nervous system physiology OMIM:614498
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral regurgitation, Patent ductus arter... OMIM:615355
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Proximal renal tubular acidosis, Oligosacchariduria, Hyperaldosteronism, Hyperc... ORPHA:534
Congenital Fibrinogen Deficiency
Right ventricular hypertrophy, Tachycardia, Left ventricular hypertrophy, Micropenis, Internal he... ORPHA:335
Congenital Hypothyroidism
Hypertension, Optic atrophy, Prolonged neonatal jaundice, Goiter, Macroglossia, Nephrolithiasis, ... ORPHA:442
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Hypertension, Situs inversus totalis, Elevated circulating creatinine concentration... OMIM:613095
Wolfram Syndrome
Optic atrophy, Myopathy, Diabetes insipidus, Abnormality of the urinary system, Dysuria, Cardiomy... ORPHA:3463
Denys-Drash Syndrome
Hypertension, Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma ORPHA:220
Paragangliomas 4
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Palpitations, Renal cell carcinoma, Elev... OMIM:115310
Thymic Neuroendocrine Tumor
Hypercalcemia, Neuroendocrine neoplasm, Pancreatic islet cell adenoma, Neoplasm of the thymus, In... ORPHA:97289
Stiff Skin Syndrome
Abnormal circulating lipid concentration, Hypertension, Type II diabetes mellitus, Nephrolithiasis ORPHA:2833
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Glutaric aciduria, Goiter OMIM:231690
African Iron Overload
Hepatomegaly, Elevated hepatic iron concentration, Abnormal thyroid morphology, Abnormal heart mo... ORPHA:139507
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3
Paroxysmal ventricular tachycardia, Syncope, Premature ventricular contraction, Prolonged QT inte... OMIM:614021
Alport Syndrome
IgA deposition in the glomerulus, Thin glomerular basement membrane, Tubulointerstitial fibrosis,... ORPHA:63
Pseudo-Torch Syndrome 3
Cerebral hemorrhage, Hypertension, Cardiomegaly, Increased circulating ferritin concentration, Ac... OMIM:618886
Lipodystrophy, Familial Partial, Type 3
Hypertension, Decreased HDL cholesterol concentration, Maternal diabetes, Insulin-resistant diabe... OMIM:604367
Homozygous Familial Hypercholesterolemia
Coronary artery aneurysm, Myocardial steatosis, Hyperlipidemia, Premature coronary artery atheros... ORPHA:391665
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Severe Neurodegenerative Syndrome With Lipodystrophy
Hypertension, Myopathy, Hepatomegaly, Hypertriglyceridemia, Hyperinsulinemia ORPHA:363400
Ethylene Glycol Poisoning
Hyperkalemia, Hypertension, Shock, Renal tubular dysfunction, Decreased urine output, Prolonged Q... ORPHA:31826
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Ventricular septal defect, Paroxysmal atrial tachycardia, Atrial septal defect, Ca... ORPHA:49827
Secondary Intestinal Lymphangiectasia
Right ventricular failure, Constrictive pericarditis, Decreased prealbumin level, Reduced circula... ORPHA:90363
Autoimmune Hemolytic Anemia, Warm Type
Tachycardia, Splenomegaly, Congestive heart failure, Abnormal urinary color, Jaundice ORPHA:90033
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Atrial fibrillation, Subvalvular aortic stenosis, Left ventricular hyp... OMIM:108900
Bardet-Biedl Syndrome 1
Hypertension, Aganglionic megacolon, Left ventricular hypertrophy, Hypogonadism, Micropenis, Neph... OMIM:209900
Vater-Like Defects With Pulmonary Hypertension, Laryngeal Webs, And Growth Deficiency
Hypertension, Ventricular septal defect, Pulmonary arterial hypertension, Patent ductus arteriosu... OMIM:608406
Crimean-Congo Hemorrhagic Fever
Myocarditis, Adrenal insufficiency, Subdural hemorrhage, Melena, Splenomegaly, Parotitis, Acute p... ORPHA:99827
Combined Oxidative Phosphorylation Defect Type 23
Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy, Congest... ORPHA:444013
Senior-Boichis Syndrome
Renal hypoplasia, Hypertension, Abnormal renal insterstitial morphology, Thickening of the tubula... ORPHA:84081
Nelson Syndrome
Hypertension, Increased urinary cortisol level, Intracranial hemorrhage, Anterior hypopituitarism... ORPHA:199244
Pediatric-Onset Graves Disease
Hypertension, Hepatomegaly, Increased circulating T4 level, Atrial fibrillation, Goiter, Palpitat... ORPHA:525731
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Hypertension, Mitral valve prolapse, Mitral regurgitation, Cerebral berry aneurysm, Polycystic ki... OMIM:173900
Extracranial Carotid Artery Aneurysm
Hypertension, Total anomalous pulmonary venous return, Cerebral ischemia, Arterial fibromuscular ... ORPHA:494424
Primary Lipodystrophy
Hypertension, Myopathy, Type II diabetes mellitus, Skeletal muscle hypertrophy, Hyperlipidemia, T... ORPHA:90970
Stiff-Person Syndrome
Hypertension, Asymmetric limb muscle stiffness, Proximal limb muscle stiffness, Tachycardia, Diab... OMIM:184850
Simple Cryoglobulinemia
Hypertension, Pericarditis, Nephrotic syndrome, Abnormal heart morphology, Nephritis, Mesangial h... ORPHA:91139
Bacterial Toxic-Shock Syndrome
Myocarditis, Hypoalbuminemia, Shock, Myositis, Elevated circulating creatine kinase concentration... ORPHA:36234
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Grange Syndrome
Hypertension, Ventricular septal defect, Aortic regurgitation, Patent ductus arteriosus, Arterial... ORPHA:79094
Rhabdoid Tumor
Hypercalcemia, Hypertension, Hematuria, Renal neoplasm, Internal hemorrhage ORPHA:69077
Cystic Hamartoma Of Lung And Kidney
Multicystic kidney dysplasia, Hypertension ORPHA:2111
Motor Neuropathy, Peripheral, With Dysautonomia
Skeletal muscle atrophy, Orthostatic hypotension, Decreased nerve conduction velocity, Achalasia,... OMIM:252320
Pseudoxanthoma Elasticum
Hypertension, Abnormal endocardium morphology, Mitral valve prolapse, Angina pectoris, Nephrocalc... ORPHA:758
Abdominal Obesity-Metabolic Syndrome 4
Hypertension, Decreased HDL cholesterol concentration, Type II diabetes mellitus, Accelerated ath... OMIM:618620
Tubulointerstitial Nephritis And Uveitis Syndrome
Renal lymphocytic tubulitis, Renal Fanconi syndrome, Tubulointerstitial nephritis, Aminoaciduria,... ORPHA:91500
Caudal Regression Sequence
Decreased muscle mass, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Hypertens... ORPHA:3027
Mercury Poisoning
Hypertension, Hypokalemia, Tachycardia, Acute kidney injury, Hypotension ORPHA:330021
Schimke Immuno-Osseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Hyperlipidem... ORPHA:1830
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Leber Hereditary Optic Neuropathy
Optic atrophy, Myopathy, Ventricular preexcitation, Retinal telangiectasia, Arrhythmia ORPHA:104
Porphyria, Acute Intermittent
Hypertension, Urinary retention, Dysuria, Tachycardia, Urinary incontinence, Elevated urinary del... OMIM:176000
Familial Dysautonomia
Hyponatremia, Hypertension, Optic atrophy, Orthostatic hypotension, Tachycardia, Hyperhidrosis, H... ORPHA:1764
Nephronophthisis 1
Renal tubular atrophy, Hypertension, Nephronophthisis, Tubulointerstitial fibrosis, Renal cortico... OMIM:256100
Coach Syndrome 2
Hyperechogenic kidneys, Hypertension, Elevated circulating creatinine concentration, Elevated hep... OMIM:619111
Chromosome 17Q23.1-Q23.2 Deletion Syndrome
Bicuspid aortic valve, Hypertension, Pulmonary arterial hypertension, Patent ductus arteriosus, A... OMIM:613355
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Hypertension, Macronodular adrenal hyperplasia, Skeletal muscle atrophy, Pri... OMIM:219080
Coach Syndrome 1
Hypertension, Hepatomegaly, Optic disc pallor, Nephronophthisis, Multiple small medullary renal c... OMIM:216360
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Neonatal hyperbilirubinemia, Tachycardia, Hyperalaninemia, Hyperuricemia, Increased... ORPHA:348
Mixed-Type Autoimmune Hemolytic Anemia
Abnormal urinary color, Tachycardia, Increased total bilirubin ORPHA:90036
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal tubular atrophy, Nephrocalcinosis, Proximal tubulopathy, Tubulointerstitial fibrosis, Glome... OMIM:310468
Arteriosclerosis, Severe Juvenile
Hypertension, Myocardial infarction, Arteriosclerosis, Central retinal vessel vascular tortuosity... OMIM:208060
Pseudoxanthoma Elasticum
Hypertension, Mitral valve prolapse, Accelerated atherosclerosis, Retinal hemorrhage, Renovascula... OMIM:264800
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Hypertension, Episodic hyperhidrosis, Orthostatic hypotension, Abnormal renal physiology, Elevate... OMIM:223900
Schimke Immunoosseous Dysplasia
Hypertension, Focal segmental glomerulosclerosis, Nephrotic syndrome, Cerebral ischemia, Arterios... OMIM:242900
Hereditary Pulmonary Alveolar Proteinosis
Elevated carcinoembryonic antigen level, Foam cells, Tachycardia, Abnormal circulating protein co... ORPHA:264675
Arterial Calcification, Generalized, Of Infancy, 1
Hypertension, Generalized arterial calcification, Coronary artery calcification, Myocardial infar... OMIM:208000
Absence Of The Pulmonary Artery
Truncus arteriosus, Abnormal coronary artery morphology, Patent ductus arteriosus, Abnormal infer... ORPHA:980
Pigmented Nodular Adrenocortical Disease, Primary, 2
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610475
Pigmented Nodular Adrenocortical Disease, Primary, 1
Hypertension, Primary hypercortisolism, Increased circulating cortisol level, Decreased circulati... OMIM:610489
Childhood-Onset Spasticity With Hyperglycinemia
Left ventricular hypertrophy, Optic atrophy, Nonketotic hyperglycinemia ORPHA:401866
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Hypertension, Abnormal nephron morpholog... ORPHA:93108
Paroxysmal Extreme Pain Disorder
Tachycardia, Bradycardia OMIM:167400
Laubry-Pezzi Syndrome
Bicuspid aortic valve, Ventricular septal defect, Ascending tubular aorta aneurysm, Dilatation of... ORPHA:99094
X-Linked Hypohidrotic Ectodermal Dysplasia
Hypertension, Type I diabetes mellitus, Hypohidrosis, Anterior hypopituitarism ORPHA:181
Sepsis In Premature Infants
Hepatomegaly, Reversible renal failure, Tachycardia, Bradycardia, Splenomegaly, Decreased liver f... ORPHA:90051
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Right ventricular dilatation, Ventricular tachycardia, Palpita... OMIM:618920
Hydroxykynureninuria
Renal tubular acidosis, Tachycardia, Abnormal circulating tryptophan concentration, Hypotension ORPHA:79155
Autoimmune Hypoparathyroidism
Autoimmune hypoparathyroidism, Hypocalcemic tetany, Prolonged QT interval, Hypocalcemic seizures,... ORPHA:36913
Cholera
Abnormality of renal excretion, Hyponatremia, Hypovolemic shock, Decreased urine output, Hypokale... ORPHA:173
Pseudohypoaldosteronism, Type Iia
Hyperkalemia, Hypertension, Pseudohypoaldosteronism OMIM:145260
Igg4-Related Retroperitoneal Fibrosis
Hypertension, Hydronephrosis, Nephrotic syndrome, Renovascular hypertension, Budd-Chiari syndrome... ORPHA:49041
Alport Syndrome 2, Autosomal Recessive
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Hematuria, Nephritis,... OMIM:203780
Eisenmenger Syndrome
Right ventricular failure, Syncope, Left-to-right shunt, Ventricular arrhythmia, Patent ductus ar... ORPHA:97214
Eosinophilic Granulomatosis With Polyangiitis
Myocarditis, Hypertrophic cardiomyopathy, Hypertension, Tubulointerstitial nephritis, Endocarditi... ORPHA:183
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Endocardial fibroelastosis, Atrial cardiomyopathy, ... OMIM:108770
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular winging, Left ve... ORPHA:169186
16P12.1P12.3 Triplication Syndrome
Abnormal heart morphology, Abnormal tricuspid valve morphology, Tachycardia, Atrial septal defect... ORPHA:485405
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Pericardial effusion, Ventricular arrhythmia, Atrial fibrillatio... ORPHA:300751
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Hypertension, Ragged-red muscle fibers, Cong... ORPHA:1349
Posterior Urethral Valve
Hypertension, Hydronephrosis, Urinary retention, Urethral stenosis, Congenital posterior urethral... ORPHA:93110
Paternal Uniparental Disomy Of Chromosome 1
Macroscopic hematuria, Hypercalcemia, Hypertension, Increased blood urea nitrogen, Anhidrosis, Me... ORPHA:251004
Alport Syndrome 1, X-Linked
Glomerular basement membrane lamellation, Hypertension, Hypoparathyroidism, Nephrotic syndrome, N... OMIM:301050
Timothy Syndrome
Ventricular septal defect, Prolonged QT interval, Cardiomegaly, Bradycardia, Patent ductus arteri... OMIM:601005
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertension, Intracranial hemorrhage, Mitral valve calcification, Mitral regurgitation, Ventricu... ORPHA:363618
Melorheostosis With Osteopoikilosis
Hypertension ORPHA:1879
Bardet-Biedl Syndrome
Hypertension, Skeletal muscle atrophy, Nephrotic syndrome, Hypoplasia of the ovary, Hypogonadism,... ORPHA:110
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Cardiomyopathy, Left ventricular hypertrophy, Congestive heart ... OMIM:242840
Histiocytoid Cardiomyopathy
Hepatomegaly, Ventricular septal defect, Optic atrophy, Atrial fibrillation, Ventricular tachycar... ORPHA:137675
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Ganglioneuromatosis, Elevated urinary epinephrine, Elevated urinary catechol... ORPHA:653
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98855
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Cardiomyocyte hypertrophy OMIM:605676
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hypertension, Hepatomegaly, Tubulointerstitial fibrosis, Renal cyst, Splenomegaly, Polycystic kid... OMIM:263200
Morgagni-Stewart-Morel Syndrome
Hypertension, Abnormality of the endocrine system, Hyperuricemia, Hypercholesterolemia, Diabetes ... ORPHA:77296
Alport Syndrome 3, Autosomal Dominant
Glomerular basement membrane lamellation, Hypertension, Nephrotic syndrome, Nephrocalcinosis, Glo... OMIM:104200
Naxos Disease
Paroxysmal ventricular tachycardia, Cardiomyopathy, Congestive heart failure, Hyperhidrosis, Sudd... ORPHA:34217
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Aortic root aneurysm, Patent ductus ar... ORPHA:91387
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612925
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612924
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Hypertension, Anuria, Hematuria, Elevated circulating creatinine concentration, Hemolytic-uremic ... OMIM:612926
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Abnormal autonomic nervous system physiology, Optic atro... OMIM:231550
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Premature ventricular contraction, Ventricular tachycardia, Congestive heart failure, Sudden card... OMIM:607450
Cardiomyopathy, Familial Hypertrophic, 12
Ventricular tachycardia, Paroxysmal atrial fibrillation, Cardiomyopathy, Sudden cardiac death OMIM:612124
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy,... OMIM:613404
Ventricular Tachycardia, Catecholaminergic Polymorphic, 4
Ventricular tachycardia, Syncope, Cardiac arrest OMIM:614916
Ochoa Syndrome
Hypertension, Hydronephrosis, Recurrent urinary tract infections, Urinary incontinence, Vesicoure... ORPHA:2704
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Decreased liver function, Hypertension, Polycystic kidney dysplasia, Dilatation of the cerebral a... OMIM:600666
Mitchell Syndrome
Abnormal autonomic nervous system physiology, Limb muscle weakness OMIM:618960
Cardiomyopathy, Dilated, 1O
Dilated cardiomyopathy, Impaired myocardial contractility, Ventricular tachycardia OMIM:608569
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Ventricular arrhythmia, Abnormal atrioventricular conduction, Spleno... ORPHA:280365
Porphyria
Dupuytren contracture, Hypertension, Abnormal urinary color, Abnormal circulating porphyrin conce... ORPHA:738
Familial Thyroid Dyshormonogenesis
Congenital hypothyroidism, Goiter, Neonatal hyperbilirubinemia, Macroglossia, Increased radioacti... ORPHA:95716
Pituitary Adenoma 4, Acth-Secreting
Hypertension, Skeletal muscle atrophy, Hypokalemia, Nephrolithiasis, Pituitary adenoma, Increased... OMIM:219090
Alagille Syndrome
Hypertension, Ventricular septal defect, Abnormality of the ureter, Hepatomegaly, Nephrotic syndr... ORPHA:52
Aorta Coarctation
Bicuspid aortic valve, Hypertension, Coarctation of the descending aortic arch, Persistent left s... ORPHA:1457
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Hypoplasia of penis, Cardiac arrest, Arrhythmia, Abnormal autonomic nervous system physiology ORPHA:168593
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Hypertension, Primary hypercortisolism, Increased circulating cortisol level... OMIM:615830
Cryoglobulinemia, Familial Mixed
Hypertension, Abnormal renal physiology, Hematuria, Elevated circulating creatinine concentration... OMIM:123550
Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Dilated cardiomyopathy, Ventricular escape rhythm, Decreased cervical spine flexion due to contra... ORPHA:98853
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert
Hypertension, Telangiectases producing 'marbled' skin OMIM:206570
Hardikar Syndrome
Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Splenomegaly, Hepatosplen... OMIM:301068
Hypertension And Brachydactyly Syndrome
Hypertension OMIM:112410
Brachydactyly-Arterial Hypertension Syndrome
Hypertension ORPHA:1276
Triglyceride Deposit Cardiomyovasculopathy
Hyperlipidemia, Low-output congestive heart failure, Splenomegaly, Diabetes mellitus, Coronary ar... ORPHA:565612
Fragile X-Associated Tremor/Ataxia Syndrome
Hypertension, Urinary bladder sphincter dysfunction, Pollakisuria, Hypothyroidism, Hypotension, A... ORPHA:93256
Buschke-Ollendorff Syndrome
Hypertension, Abnormal aortic morphology, Generalized limb muscle atrophy, Flexion contracture, R... ORPHA:1306
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Sudden cardiac death, R... OMIM:610193
Nephrotic Syndrome, Type 6
Focal segmental glomerulosclerosis, Nephrotic syndrome, Tubulointerstitial fibrosis, Hypoalbumine... OMIM:614196
Atrial Fibrillation, Familial, 1
Tachycardia, Atrial fibrillation OMIM:608583
Atrial Fibrillation, Familial, 3
Tachycardia, Atrial fibrillation OMIM:607554
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia, Macroglossia, Decreased circulating T4 level, Bradycardia, Elevated ... ORPHA:95717
Catecholaminergic Polymorphic Ventricular Tachycardia
Sudden cardiac death, Syncope, Ventricular tachycardia ORPHA:3286
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy
Hypoproteinemia, Tachycardia OMIM:221400
X-Linked Emery-Dreifuss Muscular Dystrophy
Ventricular escape rhythm, Decreased cervical spine flexion due to contractures of posterior cerv... ORPHA:98863
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Bicuspid aortic valve, Ventricular septal defect, Hypertension, Mitral valve prolapse, Double out... ORPHA:371428
Ventricular Tachycardia, Catecholaminergic Polymorphic, 2
Ventricular tachycardia, Syncope, Bradycardia OMIM:611938
Multiple System Atrophy
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... ORPHA:102
Cardiac-Valvular Ehlers-Danlos Syndrome
Pulmonary insufficiency, Tendon rupture, Mitral valve prolapse, Mitral regurgitation, Aortic root... ORPHA:230851
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Splenomegaly, Abnormal EKG, Abnormal P wave, Reduced ejection fraction, ... ORPHA:75565
Cantu Syndrome
Bicuspid aortic valve, Pericardial effusion, Cardiomegaly, Patent ductus arteriosus, Congenital h... OMIM:239850
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Tubulointerstitial fibrosis, Arthrogryposis multiplex congenita, Cardiom... OMIM:232500
Spondyloenchondrodysplasia
Hypertension, Hematuria, Hepatitis, Raynaud phenomenon, Vasculitis, Hypothyroidism, Chronic kidne... ORPHA:1855
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Hypertension, Increased urinary cortisol level, Decreased circulating aldost... ORPHA:786
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Right ventricular hypertrophy, Hypertension, Pulmonary arterial hypertension, Patent ductus arter... OMIM:613623
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Giant cell hepatitis, Nephrocalcinosis, Right ventricular hypertrophy,... OMIM:208085
Mirizzi Syndrome
Tachycardia, Hyperbilirubinemia, Dark urine, Pancreatitis, Elevated circulating alkaline phosphat... ORPHA:521219
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Penoscrotal transposition, Patent ductus arteriosus, Pulmonic stenosis, Left ventric... OMIM:619148
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypospadias, Horseshoe kidney, Bicuspid aortic valve, Muscle hypertrophy of the lower extremities... ORPHA:1772
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Tsh-Secreting Pituitary Adenoma
Ventricular arrhythmia, Goiter, Abnormality of the pituitary gland, Elevated circulating thyroid-... ORPHA:91347
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Focal pancreatic islet hyperplasia, Hyperinsulinemic hypo... ORPHA:79644
Cardiomyopathy, Dilated, 1Y
Dilated cardiomyopathy, Ventricular tachycardia, Congestive heart failure, Mitral regurgitation OMIM:611878
Lead Poisoning
Hypertension, Decreased HDL cholesterol concentration, Renal tubular dysfunction, Tubulointerstit... ORPHA:330015
Postinfectious Vasculitis
Bacterial endocarditis, Hypertension, Hematuria, Cardiomyopathy, Raynaud phenomenon, Vasculitis i... ORPHA:48435
Moyamoya Disease With Early-Onset Achalasia
Moyamoya phenomenon, Hypertension, Raynaud phenomenon ORPHA:401945
Interstitial Lung Disease, Nephrotic Syndrome, And Epidermolysis Bullosa, Congenital
Renal tubular atrophy, Focal segmental glomerulosclerosis, Nephrotic syndrome, Decreased glomerul... OMIM:614748
Cranioectodermal Dysplasia 2
Hypertension, Hepatomegaly, Renal cyst, Hyperbilirubinemia, Patent ductus arteriosus, Splenomegal... OMIM:613610
Granulomatosis With Polyangiitis
Hypertension, Hydronephrosis, Pericarditis, Diabetes insipidus, Prostatitis, Hematuria, Epistaxis... ORPHA:900
Multiple System Atrophy, Parkinsonian Type
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... ORPHA:98933
Carney Triad
Hypertension, Adrenal overactivity, Adrenocortical adenoma, Tachycardia, Leiomyosarcoma, Paragang... ORPHA:139411
Alkaptonuria
Hypertension, Tendon rupture, Mitral valve calcification, Prostatitis, Coronary artery calcificat... ORPHA:56
Neuroblastoma, Susceptibility To, 1
Hypertension, Elevated urinary vanillylmandelic acid, Horner syndrome, Elevated urinary catechola... OMIM:256700
Ganglioneuroma
Abnormality of the adrenal glands, Hypertension, Gastrointestinal hemorrhage, Neoplasm of the adr... ORPHA:251992
Fructose-1,6-Bisphosphatase Deficiency
Hepatomegaly, Increased urinary glycerol, Tachycardia OMIM:229700
Noonan Syndrome 10
Hypertrophic cardiomyopathy, Ventricular septal defect, Mitral valve prolapse, Mitral regurgitati... OMIM:616564
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal autonomic nervous system physiology, Distal a... ORPHA:139578
Hyperaldosteronism, Familial, Type Ii
Hypertension, Hypokalemia OMIM:605635
Familial Glucocorticoid Deficiency
Hyperkalemia, Hyponatremia, Hypertrophic cardiomyopathy, Adrenal insufficiency, Decreased circula... ORPHA:361
Pulmonary Hypertension, Primary, 1
Right ventricular failure, Hypertension, Telangiectasia, Pulmonary artery vasoconstriction, Arter... OMIM:178600
Sickle Cell Anemia
Hypertension, Hepatomegaly, Hematuria, Cardiomegaly, Splenomegaly, Renal insufficiency, Jaundice OMIM:603903
Marburg Hemorrhagic Fever
Shock, Hyperamylasemia, Pericarditis, Hypokalemia, Elevated hepatic transaminase, Elevated circul... ORPHA:99826
Familial Aortic Dissection
Aortic dissection, Mucoid extracellular matrix accumulation, Descending thoracic aorta aneurysm, ... ORPHA:229
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4
Renal tubular atrophy, Renal hypoplasia, Focal segmental glomerulosclerosis, Tubulointerstitial f... OMIM:613092
Cockayne Syndrome Type 1
Contractures involving the joints of the feet, Hypertension, Hepatomegaly, Abnormality of periphe... ORPHA:90321
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Familial Cerebral Saccular Aneurysm
Hypertension, Aortic dissection, Intracranial hemorrhage, Abnormal circle of Willis morphology, A... ORPHA:231160
Ventricular Fibrillation, Paroxysmal Familial, 1
Syncope, Tachycardia, Ventricular fibrillation OMIM:603829
Neuropathy, Hereditary Sensory And Autonomic, Type Vii
Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:615548
Fibromuscular Dysplasia, Arterial
Aortic dissection, Renovascular hypertension, Arterial fibromuscular dysplasia, Intermittent clau... OMIM:135580
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Macroscopic hematuria, Hypertension, Focal segmental glomerulosclerosis, Minimal change glomerulo... ORPHA:567546
Dent Disease
Renal tubular atrophy, Hyperphosphaturia, Focal segmental glomerulosclerosis, Aminoaciduria, Neph... ORPHA:1652
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis
Dilated cardiomyopathy, Syncope, Tachycardia OMIM:615821
Zollinger-Ellison Syndrome
Increased circulating cortisol level, Gastrointestinal hemorrhage, Pituitary corticotropic cell a... ORPHA:913
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Facial palsy, Ischemic stroke OMIM:182410
Mandibuloacral Dysplasia Progeroid Syndrome
Hepatomegaly, Focal segmental glomerulosclerosis, Mitral valve calcification, Mitral regurgitatio... OMIM:619127
Pituitary Apoplexy
Hyponatremia, Hypertension, Increased circulating prolactin concentration, Hypergonadotropic hypo... ORPHA:95613
Multiple System Atrophy, Cerebellar Type
Orthostatic hypotension due to autonomic dysfunction, Orthostatic syncope, Raynaud phenomenon, Au... ORPHA:227510
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Dilated cardiomyopathy, Portal hypertension, Hypertension, Hepatomegaly, Optic atrophy, Raynaud p... OMIM:615688
Multiple Endocrine Neoplasia Type 1
Shortened QT interval, Thyroid carcinoma, Goiter, Increased circulating cortisol level, Insulinom... ORPHA:652
Infant Acute Respiratory Distress Syndrome
Cardiac arrest, Tachycardia, Bradycardia, Hypotension ORPHA:70587
Lipodystrophy, Familial Partial, Type 2
Hypertension, Hepatomegaly, Decreased HDL cholesterol concentration, Skeletal muscle hypertrophy,... OMIM:151660
Pseudohypoaldosteronism, Type Iib
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia OMIM:614491
Pseudohypoaldosteronism, Type Iid
Hyperkalemia, Hypertension, Pseudohypoaldosteronism, Hyperchloremia OMIM:614495
Renal Agenesis
Hypertension, Ventricular septal defect, Renal agenesis, Aplasia/Hypoplasia of the bladder, Bilat... ORPHA:411709
Graft Versus Host Disease
Skeletal muscle atrophy, Myositis, Tachycardia, Hyperbilirubinemia, Acute hepatitis, Hepatospleno... ORPHA:39812
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Ascending tubular aorta aneurys... ORPHA:453499
Rett Syndrome
Skeletal muscle atrophy, Hyperammonemia, Increased serum leptin, Increased serum pyruvate, Abnorm... ORPHA:778
Multiple Mitochondrial Dysfunctions Syndrome 1
Hypertension, Pulmonary arterial hypertension OMIM:605711
Paroxysmal Hemicrania
Hypertension, Diabetes mellitus ORPHA:157835
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Liddle Syndrome 3
Hypertension, Hypokalemia OMIM:618126
Aortic Aneurysm, Familial Thoracic 4
Bicuspid aortic valve, Ascending tubular aorta aneurysm, Aortic dissection, Cystic medial necrosi... OMIM:132900
Moyamoya Disease 6 With Or Without Achalasia