H00601 | |
H番号 | H00601 |
名称 | ハッチンソン・ギルフォード症候群 |
概要 | 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. |
カテゴリ | 先天性代謝異常症 |
ネットワーク | - |
病因遺伝子 | LMNA [HSA:4000] [KO:K12641] |
病原体 | - |
環境要因 | - |
発癌物質 | - |
治療薬 | - |
コメント | - |
リンク | ICD-11: LD2B ICD-10: E34.8 MeSH: D011371 OMIM: 176670 |
文献 | PMID:21622261 著者 Gonzalez JM, Pla D, Perez-Sala D, Andres V タイトル A-type lamins and Hutchinson-Gilford progeria syndrome: pathogenesis and therapy. 雑誌 Front Biosci (Schol Ed) 3:1133-46 (2011) DOI:10.2741/216 PMID:15479179 著者 Pollex RL, Hegele RA タイトル Hutchinson-Gilford progeria syndrome. 雑誌 Clin Genet 66:375-81 (2004) DOI:10.1111/j.1399-0004.2004.00315.x |