Ehlers-danlos syndrome, cardiac valvular type

Preferred Label : Ehlers-danlos syndrome, cardiac valvular type;

Symbol : EDSCV;

CISMeF acronym : EDSCV;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the collagen I, alpha-2 polypeptide gene (COL1A2, 120160.0045);

Laboratory abnormalities : Absent pro alpha 2(I) chain synthesis (fibroblasts);

Prefixed ID : #225320;

Details

Origin ID

225320;

UMLS CUI

C4303789;

Currated CISMeF NLP mapping
- Cardiac-valvular Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome cardiac valvular type [DO Concept]
- Ehlers-Danlos syndrome cardiac valvular type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, cardiac valvular form [MeSH concept]
- Ehlers-Danlos syndrome, cardiac valvular form [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, cardiac valvular type [ICD-11 More detail]
DO Cross reference
- Ehlers-Danlos syndrome cardiac valvular type [DO Concept]
Genes related to phenotype
- Collagen, type I, alpha-2 [OMIM gene]
HPO term(s)
- Aortic regurgitation [HPO term]
- Atrophic scars [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bruising susceptibility [HPO term]
- Calcaneovalgus deformity [HPO term]
- Genu recurvatum [HPO term]
- Hyperextensible skin [HPO term]
- Inguinal hernia [HPO term]
- Joint laxity [HPO term]
- Mitral regurgitation [HPO term]
- Mitral valve prolapse [HPO term]
- Pectus excavatum [HPO term]
- Pes planus [HPO term]
- Soft skin [HPO term]
- Thin skin [HPO term]
ORDO concept(s)
- Cardiac-valvular Ehlers-Danlos syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cardiac-valvular Ehlers-Danlos syndrome [ORDO Disease]
- Ehlers-Danlos syndrome cardiac valvular type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome, cardiac valvular form [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome, cardiac valvular form [MeSH concept]

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