| H00601 | |
| H number | H00601 |
| 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 | Inherited metabolic disorder |
| Network | - |
| Gene | LMNA [HSA:4000] [KO:K12641] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | Lonafarnib [DR:D04768] |
| Comment | - |
| Other DBs | ICD-11: LD2B ICD-10: E34.8 MeSH: D011371 OMIM: 176670 |
| Reference | PMID:21622261 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 PMID:15479179 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 |