Hutchinson-Gilford progeria syndrome

URI: https://gptkb.org/entity/Hutchinson-Gilford_progeria_syndrome
GPTKB entity
Statements (49)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
gptkbp:abnormalProtein progerin
gptkbp:affects children
gptkbp:affectsOrgan gptkb:skin
gptkb:skeletal_muscle
cardiovascular system
bones
vascular tissue
gptkbp:alsoKnownAs gptkb:progeria
gptkbp:category premature aging syndrome
gptkbp:diagnosedBy genetic testing
gptkbp:firstDescribed gptkb:Jonathan_Hutchinson
1886
Hastings Gilford
gptkbp:frequency extremely rare
gptkbp:hasMouseModel true
gptkbp:hasNoCure true
gptkbp:hasNoEffectOn gptkb:artificial_intelligence
prenatal development
motor development
https://www.w3.org/2000/01/rdf-schema#label Hutchinson-Gilford progeria syndrome
gptkbp:ICD-10_code E34.8
gptkbp:inheritance autosomal dominant
sporadic
gptkbp:lifeExpectancy 14 years
gptkbp:mainCauseOfDeath heart attack
stroke
gptkbp:mutationAssociatedWith gptkb:LMNA_gene
de novo point mutation
gptkbp:mutationLocation gptkb:chromosome_1q22
gptkbp:notInheritedFromParents true
gptkbp:OMIM 176670
gptkbp:onset early childhood
gptkbp:prevalence 1 in 20 million
gptkbp:prognosis poor
gptkbp:proteinAffected gptkb:lamin_A
gptkbp:researchOrganization The Progeria Research Foundation
gptkbp:symptom gptkb:cardiovascular_disease
hair loss
joint stiffness
hip dislocation
growth failure
aged-looking skin
loss of body fat
gptkbp:treatment gptkb:lonafarnib
supportive care
gptkbp:bfsParent gptkb:progeria
gptkbp:bfsLayer 7