| H00257 | |
| H number | H00257 |
| Name | Achalasia Addisonianism Alacrima syndrome; Triple A syndrome; Allgrove syndrome |
| Description | 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. |
| Category | Endocrine and metabolic disease |
| Network | - |
| Gene | (AAA) AAAS [HSA:8086] [KO:K14320] (AAMR) GMPPA [HSA:29926] [KO:K00966] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: 5A74.Y ICD-10: E27.4 MeSH: C536008 OMIM: 231550 615510 |
| Reference | PMID:18426811 AUTHORS Collares CV, Antunes-Rodrigues J, Moreira AC, Franca SN, Pereira LA, Soares MM, Elias Junior J, Clark AJ, de Castro M, Elias LL TITLE Heterogeneity in the molecular basis of ACTH resistance syndrome. JOURNAL Eur J Endocrinol 159:61-8 (2008) DOI:10.1530/EJE-08-0079 PMID:16938764 (AAAS) AUTHORS Ismail EA, Tulliot-Pelet A, Mohsen AM, Al-Saleh Q TITLE Allgrove syndrome with features of familial dysautonomia: a novel mutation in the AAAS gene. JOURNAL Acta Paediatr 95:1140-3 (2006) DOI:10.1080/08035250500538999 PMID:15217518 (AAAS) AUTHORS Brooks BP, Kleta R, Caruso RC, Stuart C, Ludlow J, Stratakis CA TITLE Triple-A syndrome with prominent ophthalmic features and a novel mutation in the AAAS gene: a case report. JOURNAL BMC Ophthalmol 4:7 (2004) DOI:10.1186/1471-2415-4-7 PMID:24035193 (GMPPA) AUTHORS 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 TITLE Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction. JOURNAL Am J Hum Genet 93:727-34 (2013) DOI:10.1016/j.ajhg.2013.08.002 |