Telangiectasia, hereditary hemorrhagic, type 1

Preferred Label : Telangiectasia, hereditary hemorrhagic, type 1;

Symbol : HHT1;

CISMeF acronym : HHT; HHT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Telangiectasia, hereditary hemorrhagic, of rendu, osler, and weber; Osler-rendu-weber disease; HHT; Orw disease;

Description : Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia leading to telangiectases and arteriovenous malformations of skin, mucosa, and viscera. Epistaxis and gastrointestinal bleeding are frequent complications of mucosal involvement. Visceral involvement includes that of the lung, liver, and brain. The most frequent form of hereditary hemorrhagic telangiectasia maps to the long arm of chromosome 9. - Genetic Heterogeneity of Hereditary Hemorrhagic Telangiectasia See also HHT2 (600376), which is caused by mutations in the ALK1 gene (ACVRL1; 601284) on chromosome 12q. HHT3 (601101) has been mapped to chromosome 5q31 and HHT4 (610655) to chromosome 7p14. See also juvenile polyposis/HHT syndrome (175050), caused by mutation in the SMAD4 gene (600993).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the endoglin gene (ENG, 131195.0001);

Prefixed ID : #187300;

Details

Origin ID

187300;

UMLS CUI

C4551861;

Automatic exact mappings (from CISMeF team)
- ACVRL1 wt Allele [NCIt concept]
- ENG wt Allele [NCIt concept]
- Omacetaxine Mepesuccinate [NCIt concept]
- activin A receptor like type 1 [ORDO Gene]
- cardiovascular disease other [ICPC-2 Rubric]
- endoglin [ORDO Gene]
- endoglin [HGNC gene]
Currated CISMeF NLP mapping
- Hereditary Hemorrhagic Telangiectasia [NCIt concept]
- Hereditary haemorrhagic telangiectasia [MedDRA Preferred Term]
- Hereditary haemorrhagic telangiectasia [ICD-11 Sub-sub category]
- Hereditary haemorrhagic telangiectasia [ICD-10 Sub-category (who)]
- Hereditary hemorrhagic telangiectasia [ICD-10 Sub-category]
- Hereditary hemorrhagic telangiectasia [ICD-9 code]
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
- Hereditary hemorrhagic telangiectasia [MedDRA LLT]
- Osler hemorrhagic telangiectasia syndrome (disorder) [SNOMED CT concept]
- Osler-Rendu disease [PASCAL descriptor]
- Osler-Weber-Rendu disease [MedDRA LLT]
- Rendu Osler Weber syndrome [Disease (Nov.)]
- Rendu-Osler-Weber disease [TUV Concept]
- Rendu-Osler-Weber syndrome [MedDRA LLT]
- hereditary hemorrhagic telangiectasia [DO Concept]
- osler hemorrhagic telangiectasia syndrome [SNOMED Notion]
- telangiectasia, hereditary hemorrhagic [MeSH Descriptor]
- telangiectasia, hereditary hemorrhagic [MeSH concept]
DO Cross reference
- hereditary hemorrhagic telangiectasia [DO Concept]
False automatic mappings
- Endoglin [NCIt concept]
- Homoharringtonine [MeSH Descriptor]
- homoharringtonine [MeSH concept]
Genes related to phenotype
- Endoglin [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Arteriovenous fistulas of celiac and mesenteric vessels [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brain abscess [HPO term]
- Cerebral arteriovenous malformation [HPO term]
- Cerebral hemorrhage [HPO term]
- Chest pain [HPO term]
- Cirrhosis [HPO term]
- Clubbing [HPO term]
- Conjunctival telangiectasia [HPO term]
- Cyanosis [HPO term]
- Dilatation of celiac artery [HPO term]
- Dilatation of mesenteric artery [HPO term]
- Dyspnea [HPO term]
- Exacerbated by pregnancy [HPO term]
- Exertional dyspnea [HPO term]
- Fingerpad telangiectases [HPO term]
- Gastrointestinal angiodysplasia [HPO term]
- Gastrointestinal arteriovenous malformation [HPO term]
- Gastrointestinal hemorrhage [HPO term]
- Gastrointestinal telangiectasia [HPO term]
- Hematemesis [HPO term]
- Hematochezia [HPO term]
- Hemoptysis [HPO term]
- Hemothorax [HPO term]
- Hepatic arteriovenous malformation [HPO term]
- High-output congestive heart failure [HPO term]
- Hypoxemia [HPO term]
- Intermediate young adult onset [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]
- Pulmonary hemorrhage [HPO term]
- Reduced FEV1/FVC ratio [HPO term]
- Restrictive ventilatory defect [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]
- Telangiectasia [HPO term]
- Telangiectasia of the skin [HPO term]
- Tongue telangiectasia [HPO term]
- Transient ischemic attack [HPO term]
- Venous varicosities of celiac and mesenteric vessels [HPO term]
ORDO concept(s)
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hereditary Hemorrhagic Telangiectasia [NCIt concept]
- Hereditary haemorrhagic telangiectasia [ICD-10 Sub-category (who)]
- Hereditary haemorrhagic telangiectasia [MedDRA Preferred Term]
- Hereditary hemorrhagic telangiectasia [ICD-9 code]
- Hereditary hemorrhagic telangiectasia [MedDRA LLT]
- Hereditary hemorrhagic telangiectasia [ICD-10 Sub-category]
- Hereditary hemorrhagic telangiectasia [ORDO Disease]
- Osler hemorrhagic telangiectasia syndrome (disorder) [SNOMED CT concept]
- Osler-Rendu disease [PASCAL descriptor]
- Osler-Weber-Rendu disease [MedDRA LLT]
- Rendu Osler Weber syndrome [Disease (Nov.)]
- Rendu-Osler-Weber disease [TUV Concept]
- Rendu-Osler-Weber syndrome [MedDRA LLT]
- hereditary hemorrhagic telangiectasia [DO Concept]
- osler hemorrhagic telangiectasia syndrome [SNOMED Notion]
- telangiectasia, hereditary hemorrhagic [MeSH Descriptor]
- telangiectasia, hereditary hemorrhagic [MeSH concept]
Validated automatic mappings to BTNT
- telangiectasia hereditary hemorrhagic type 1 [Disease (Nov.)]

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