Telangiectasia, hereditary hemorrhagic, type 2

Preferred Label : Telangiectasia, hereditary hemorrhagic, type 2;

Symbol : HHT2;

CISMeF acronym : HHT2;

Type : Phenotype, molecular basis known;

Included titles and symbols : Pulmonary arterial hypertension, hereditary hemorrhagic telangiectasia-related;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the activin receptor-like kinase gene (ALK1, 601284.0001);

Prefixed ID : #600376;

Details

Origin ID

600376;

UMLS CUI

C1838163;

Automatic exact mappings (from CISMeF team)
- ACVRL1 wt Allele [NCIt concept]
- Osler-rendu-weber syndrome 2 [MeSH concept]
- activin A receptor like type 1 [ORDO Gene]
- activin A receptor like type 1 [HGNC gene]
- pulmonary arterial hypertension, hereditary hemorrhagic Telangiectasia-Related [MeSH Supplementary Concept]
- pulmonary arterial hypertension, hereditary hemorrhagic Telangiectasia-Related [MeSH concept]
Currated CISMeF NLP mapping
- hereditary hemorrhagic telangiectasia type 2 [Disease (Nov.)]
- osler-rendu-weber syndrome 2 [MeSH Supplementary Concept]
DO Cross reference
- hereditary hemorrhagic telangiectasia [DO Concept]
Genes related to phenotype
- Activin a receptor, type II-like 1 [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brain abscess [HPO term]
- Cerebral arteriovenous malformation [HPO term]
- Cerebral hemorrhage [HPO term]
- Choriocapillaris atrophy [HPO term]
- Cirrhosis [HPO term]
- Clubbing [HPO term]
- Conjunctival telangiectasia [HPO term]
- Cyanosis [HPO term]
- Dyspnea [HPO term]
- Fingerpad telangiectases [HPO term]
- Gastrointestinal angiodysplasia [HPO term]
- Gastrointestinal arteriovenous malformation [HPO term]
- Gastrointestinal telangiectasia [HPO term]
- Hematemesis [HPO term]
- Hematochezia [HPO term]
- Hepatic arteriovenous malformation [HPO term]
- Heterogeneous [HPO term]
- Hypertension [HPO term]
- Ischemic stroke [HPO term]
- Lip telangiectasia [HPO term]
- Melena [HPO term]
- Migraine [HPO term]
- Nail bed telangiectasia [HPO term]
- Nasal mucosa telangiectasia [HPO term]
- Palate telangiectasia [HPO term]
- Polycythemia [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Pulmonary arteriovenous malformation [HPO term]
- Right-to-left shunt [HPO term]
- Seizure [HPO term]
- Spinal arteriovenous malformation [HPO term]
- Spontaneous, recurrent epistaxis [HPO term]
- Subarachnoid hemorrhage [HPO term]
- Tongue telangiectasia [HPO term]
- Transient ischemic attack [HPO term]
ORDO concept(s)
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Osler-rendu-weber syndrome 2 [MeSH concept]
- hereditary hemorrhagic telangiectasia type 2 [Disease (Nov.)]
- osler-rendu-weber syndrome 2 [MeSH Supplementary Concept]
Validated automatic mappings to NTBT
- Hereditary hemorrhagic telangiectasia [ORDO Disease]

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