| H00257 | |
| H番号 | H00257 |
| 名称 | AAA 症候群; Triple A 症候群; Allgrove 症候群 |
| 概要 | Achalasia-Addisonianism-Alacrima (AAA) syndrome, also known as triple-A syndrome, is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic instability caused by mutation in the AAAS gene on 12q13. Recently, it has been reported that mutations in GMPPA cause alacrima, achalasia, and mental retardation syndrome (AAMR), that shows similarity to the triple A syndrome. |
| カテゴリ | 内分泌代謝疾患 |
| ネットワーク | - |
| 病因遺伝子 | (AAA) AAAS [HSA:8086] [KO:K14320] (AAMR) GMPPA [HSA:29926] [KO:K00966] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 5A74.Y ICD-10: E27.4 MeSH: C536008 OMIM: 231550 615510 |
| 文献 | PMID:18426811 著者 Collares CV, Antunes-Rodrigues J, Moreira AC, Franca SN, Pereira LA, Soares MM, Elias Junior J, Clark AJ, de Castro M, Elias LL タイトル Heterogeneity in the molecular basis of ACTH resistance syndrome. 雑誌 Eur J Endocrinol 159:61-8 (2008) DOI:10.1530/EJE-08-0079 PMID:16938764 (AAAS) 著者 Ismail EA, Tulliot-Pelet A, Mohsen AM, Al-Saleh Q タイトル Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene. 雑誌 Acta Paediatr 95:1140-3 (2006) DOI:10.1080/08035250500538999 PMID:15217518 (AAAS) 著者 Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA タイトル Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. 雑誌 BMC Ophthalmol 4:7 (2004) DOI:10.1186/1471-2415-4-7 PMID:24035193 (GMPPA) 著者 Koehler K, Malik M, Mahmood S, Giesselmann S, Beetz C, Hennings JC, Huebner AK, Grahn A, Reunert J, Nurnberg G, Thiele H, Altmuller J, Nurnberg P, Mumtaz R, Babovic-Vuksanovic D, Basel-Vanagaite L, Borck G, Bramswig J, Muhlenberg R, Sarda P, Sikiric A, Anyane-Yeboa K, Zeharia A, Ahmad A, Coubes C, Wada Y, Marquardt T, Vanderschaeghe D, Van Schaftingen E, Kurth I, Huebner A, Hubner CA タイトル Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. 雑誌 Am J Hum Genet 93:727-34 (2013) DOI:10.1016/j.ajhg.2013.08.002 |