Hutchinson–Gilford progeria syndrome

Also known as: HGPS

Premature aging syndrome with severe atherosclerosis in childhood.

Medical specialty: Endocrinology
Subspecialty: Endocrinology / Pediatric endocrinology
Sex & age distribution: Male: affected; Female: affected equally; Children: yes, onset by 2 years
Gene(s) involved: LMNA

Etiology & mechanism

Progerin accumulation from LMNA c.1824C>T splice variant.

Gene(s) involved (1)

LMNA

Symptoms & signs (10)

alopeciabone resorptionearly atherosclerosisgrowth failurejoint contractureslipodystrophymyocardial infarctionprominent scalp veinssclerotic skinstroke

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