KEGG   DISEASE: Hutchinson-Gilford progeria syndrome
Entry
H00601                      Disease                                

Name
Hutchinson-Gilford progeria syndrome
Description
Hutchinson-Gilford progeria syndrome (HGPS) is a rare hereditary disorder characterized by premature aging. Children born with HGPS begin to develop micrognathia, alopecia, prominent scalp vein, and wrinkled, aged-looking skin within the first year of life. Severe premature atherosclerosis can cause the death at an average age of 13.5 years. Mutations in lamin A/C, an important structural component of the nuclear envelope, have been reported.
Category
Endocrine disease
Brite
Human diseases [BR:br08402]
 Endocrine and metabolic diseases
  Other endocrine and metabolic diseases
   H00601  Hutchinson-Gilford progeria syndrome
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2B  Syndromes with premature ageing appearance as a major feature
    H00601  Hutchinson-Gilford progeria syndrome
Network
  Element
N00329  Mutation-caused aberrant LMNA to cleavage of prelimin A
Gene
LMNA [HSA:4000] [KO:K12641]
Other DBs
ICD-11: LD2B
ICD-10: E34.8
MeSH: D011371
OMIM: 176670
Reference
  Authors
Gonzalez JM, Pla D, Perez-Sala D, Andres V
  Title
A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy.
  Journal
Front Biosci (Schol Ed) 3:1133-46 (2011)
DOI:10.2741/216
Reference
  Authors
Pollex RL, Hegele RA
  Title
Hutchinson-Gilford progeria syndrome.
  Journal
Clin Genet 66:375-81 (2004)
DOI:10.1111/j.1399-0004.2004.00315.x
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