Bicuspid aortic valve

Symptom Information:

Symptom ID: HPO:0001647
Synonyms:
Bicuspid aortic valve (disorder) [Orphanet:34120]
Bicuspid aortic valve [Orphanet:34120]
Bicuspid aortic valve [OMIM:Bicuspid aortic valve]
Aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid [Orphanet:34120]
Bicuspid aortic valve [MedDRA:10004552]
Bicuspid aortic valve (in some patients) [OMIM:Bicuspid aortic valve (in some patients)]
Bicuspid aortic valve (rare) [OMIM:Bicuspid aortic valve (rare)]
Bicuspid aortic valve (uncommon) [OMIM:Bicuspid aortic valve (uncommon)]
Bicuspid aortic valve (variable) [OMIM:Bicuspid aortic valve (variable)]
Quality:
Cross references:
Orphanet:34120 "Aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid" [Orphanet:34120]
OMIM: "Bicuspid aortic valve" [OMIM:Bicuspid aortic valve]
OMIM: "Bicuspid aortic valve (in some patients)" [OMIM:Bicuspid aortic valve (in some patients)]
OMIM: "Bicuspid aortic valve (rare)" [OMIM:Bicuspid aortic valve (rare)]
OMIM: "Bicuspid aortic valve (uncommon)" [OMIM:Bicuspid aortic valve (uncommon)]
OMIM: "Bicuspid aortic valve (variable)" [OMIM:Bicuspid aortic valve (variable)]
UMLS:C0149630 "Bicuspid aortic valve" [Orphanet:34120]
Is a (Direct Parents):
Orphanet Abnormality of the aortic valve
Orphanet Abnormality of the heart valves
HPO         Abnormality of the aortic valve
MedDRA Cardiac valve disorders congenital
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the cardiovascular system(HPO:0001626)
          Abnormal heart morphology(HPO:0001627)
             obsolete Malformation of the heart and great vessels(HPO:0002564)
                Abnormality of the heart valves(HPO:0001654)
                   Abnormality of the aortic valve(HPO:0001646)
                      Bicuspid aortic valve(HPO:0001647)
MedDRA:
Congenital, familial and genetic disorders(MedDRA:10010331)
    Cardiac and vascular disorders congenital(MedDRA:10007510)
       Cardiac valve disorders congenital(MedDRA:10007614)
          Bicuspid aortic valve(HPO:0001647)
Database Frequency: 34 / 7739
Resource:

All diseases associated with this symptom:

17q23.1q23.2 microdeletion syndrome (Orphanet:261279)
1p36 deletion syndrome (Orphanet:1606)
AORTIC ANEURYSM, FAMILIAL THORACIC 4 (OMIM:132900)
AORTIC VALVE DISEASE 1 (OMIM:109730)
AORTIC VALVE DISEASE 2 (OMIM:614823)
BARAITSER-WINTER SYNDROME 1 (OMIM:243310)
Baraitser-Winter syndrome (Orphanet:2995)
CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2 (OMIM:614980)
Cardiomyopathy, dilated, 1S (OMIM:613426)
Chronic atrial and intestinal dysrhythmia syndrome (Orphanet:435988)
Congenital contractural arachnodactyly (Orphanet:115)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
DIAMOND-BLACKFAN ANEMIA 11 (OMIM:614900)
HETEROTOPIA, PERIVENTRICULAR, X-LINKED DOMINANT (OMIM:300049)
HUNTER-MACDONALD SYNDROME (OMIM:611962)
Hypertrichotic osteochondrodysplasia, Cantu type (Orphanet:1517)
Joubert syndrome 28 (OMIM:617121)
Koolen-De Vries syndrome (Orphanet:96169)
LOEYS-DIETZ SYNDROME 1 (OMIM:609192)
LOEYS-DIETZ SYNDROME 2 (OMIM:610168)
LOEYS-DIETZ SYNDROME 4 (OMIM:614816)
Larsen-like syndrome, B3GAT3 type (Orphanet:284139)
Loeys-Dietz syndrome type 1 (Orphanet:60030)
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
MICROPHTHALMIA, SYNDROMIC 1 (OMIM:309800)
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency (Orphanet:1194)
Nodular neuronal heterotopia (Orphanet:2149)
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia (Orphanet:363972)
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Patent ductus arteriosus - bicuspid aortic valve - hand anomalies (Orphanet:228190)
Progeria - short stature - pigmented nevi (Orphanet:2959)
Spondyloepimetaphyseal dysplasia with joint laxity (Orphanet:93359)
Williams syndrome (Orphanet:904)