Hutchinson–Gilford progeria syndrome
GPTKB entity
Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
children
|
| gptkbp:alsoKnownAs |
gptkb:progeria
|
| gptkbp:category |
rare disease
premature aging syndrome |
| gptkbp:firstDescribed |
gptkb:Jonathan_Hutchinson
1886 Hastings Gilford |
| https://www.w3.org/2000/01/rdf-schema#label |
Hutchinson–Gilford progeria syndrome
|
| gptkbp:ICD-10_code |
E34.8
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:lifeExpectancy |
14 years
|
| gptkbp:mutationAssociatedWith |
gptkb:LMNA_gene
|
| gptkbp:notableCase |
gptkb:Sam_Berns
Hayley Okines |
| gptkbp:OMIM |
176670
|
| gptkbp:prevalence |
1 in 20 million
|
| gptkbp:symptom |
gptkb:cardiovascular_disease
hair loss joint stiffness hip dislocation growth failure aged-looking skin loss of body fat |
| gptkbp:treatment |
gptkb:lonafarnib
symptomatic management |
| gptkbp:bfsParent |
gptkb:Jonathan_Hutchinson
|
| gptkbp:bfsLayer |
7
|