Hereditary hemorrhagic telangiectasia
GPTKB entity
Statements (35)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:cardiovascular_disease
genetic disorder rare disease |
| gptkbp:affects |
blood vessels
|
| gptkbp:alsoKnownAs |
gptkb:Osler-Weber-Rendu_syndrome
|
| gptkbp:causedBy |
mutation in ACVRL1 gene
mutation in ENG gene mutation in SMAD4 gene |
| gptkbp:complication |
heart failure
stroke brain abscess |
| gptkbp:diagnosedBy |
genetic testing
clinical criteria |
| gptkbp:firstDescribed |
gptkb:Henri_Rendu
gptkb:William_Osler gptkb:Frederick_Parkes_Weber |
| gptkbp:hasDatabaseEntry |
GARD:0008702
MedlinePlus:001223 Orphanet:774 |
| https://www.w3.org/2000/01/rdf-schema#label |
Hereditary hemorrhagic telangiectasia
|
| gptkbp:ICD-10_code |
I78.0
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
187300
|
| gptkbp:prevalence |
1 in 5,000 to 8,000 people
|
| gptkbp:symptom |
gptkb:anemia
arteriovenous malformations gastrointestinal bleeding recurrent nosebleeds telangiectasias |
| gptkbp:treatment |
antifibrinolytic agents
embolization iron supplementation laser therapy |
| gptkbp:bfsParent |
gptkb:Osler-Weber-Rendu_syndrome
|
| gptkbp:bfsLayer |
7
|