Telangiectasia, hereditary hemorrhagic, type 5

Preferred Label : Telangiectasia, hereditary hemorrhagic, type 5;

Symbol : HHT5;

CISMeF acronym : HHT5;

Type : Phenotype, molecular basis known;

Description : Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant syndrome characterized by telangiectases and arteriovenous malformations (AVMs). Hallmark features are recurrent epistaxis due to telangiectases of the nasal mucosa; telangiectases on the lips, hands, and oral mucosa; solid-organ AVMs, particularly of the lungs, liver, and brain; and a family history of the same. Presentation with 3 of these criteria is considered diagnostic for HHT (summary by Wooderchak-Donahue et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the gene encoding growth/differentiation factor-2 (GDF2, 605120.0001);

Prefixed ID : #615506;

Details

Origin ID

615506;

UMLS CUI

C3809710;

Automatic exact mappings (from CISMeF team)
- GDF2 wt Allele [NCIt concept]
DO Cross reference
- hereditary hemorrhagic telangiectasia [DO Concept]
Genes related to phenotype
- Growth/differentiation factor 2 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Elevated hepatic transaminase [HPO term]
- Portal hypertension [HPO term]
- Spontaneous, recurrent epistaxis [HPO term]
- Telangiectasia [HPO term]
ORDO concept(s)
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
Validated automatic mappings to NTBT
- Hereditary hemorrhagic telangiectasia [ORDO Disease]

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