| H01907 | |
| H番号 | H01907 |
| 名称 | 酸不安定サブユニット欠損症 |
| 概要 | Acid-labile subunit (ALS) deficiency is characterized by severe reduction of IGF-I and IGFBP-3 that remain low after GH treatment, associated with mild growth retardation. ALS, encoded by the IGFALS gene, is mainly produced by the liver. The patients were found to be carriers for IGFALS gene mutations. ALS protein is a key component of the circulating IGF ternary complex. The main role of ALS is the extension of IGF-I half life by protecting it from degradation and preventing the passage of IGF-I to the extravascular compartment. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | IGFALS [HSA:3483] [KO:K17256] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | See also H00254 Pituitary Dwarfism. |
| リンク | ICD-11: 5A61.0 ICD-10: E34.3 OMIM: 615961 |
| 文献 | PMID:21396577 著者 Domene HM, Hwa V, Jasper HG, Rosenfeld RG タイトル Acid-labile subunit (ALS) deficiency. 雑誌 Best Pract Res Clin Endocrinol Metab 25:101-13 (2011) DOI:10.1016/j.beem.2010.08.010 PMID:11431138 著者 Boisclair YR, Rhoads RP, Ueki I, Wang J, Ooi GT タイトル The acid-labile subunit (ALS) of the 150 kDa IGF-binding protein complex: an important but forgotten component of the circulating IGF system. 雑誌 J Endocrinol 170:63-70 (2001) DOI:10.1677/joe.0.1700063 PMID:18303074 著者 Heath KE, Argente J, Barrios V, Pozo J, Diaz-Gonzalez F, Martos-Moreno GA, Caimari M, Gracia R, Campos-Barros A タイトル Primary acid-labile subunit deficiency due to recessive IGFALS mutations results in postnatal growth deficit associated with low circulating insulin growth factor (IGF)-I, IGF binding protein-3 levels, and hyperinsulinemia. 雑誌 J Clin Endocrinol Metab 93:1616-24 (2008) DOI:10.1210/jc.2007-2678 PMID:17726072 著者 Domene HM, Scaglia PA, Lteif A, Mahmud FH, Kirmani S, Frystyk J, Bedecarras P, Gutierrez M, Jasper HG タイトル Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations. 雑誌 J Clin Endocrinol Metab 92:4444-50 (2007) DOI:10.1210/jc.2007-1152 |