| H01911 | |
| H番号 | H01911 |
| 名称 | 常染色体劣性精神遅滞症候群 |
| 概要 | Mental retardation (MR) is a neurodevelopmental disorder characterized by low intelligence quotient (IQ) and deficits in adaptive behaviors. To date, several genes have been identified for autosomal recessive mental retardation (ARMR). These genes have a variety of functions and participate in multiple biochemical pathways. ARMR is subdivided into syndromic and non-syndromic forms, depending on whether further abnormalities are found or not. Syndromic ARMR is characterized by recognizable dysmorphic features, neurological complications, and/or metabolic abnormalities. |
| カテゴリ | 精神及び行動の障害 |
| ネットワーク | - |
| 病因遺伝子 | (MRT34) CRADD [HSA:8738] [KO:K02832] (MRAMS) SOBP [HSA:55084] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: 6A00 ICD-10: F78.9 MeSH: D008607 OMIM: 614499 613671 |
| 文献 | PMID:21937992 著者 Najmabadi H, Hu H, Garshasbi M, Zemojtel T, Abedini SS, Chen W, Hosseini M, Behjati F, Haas S, Jamali P, Zecha A, Mohseni M, Puttmann L, Vahid LN, Jensen C, Moheb LA, Bienek M, Larti F, Mueller I, Weissmann R, Darvish H, Wrogemann K, Hadavi V, Lipkowitz B, Esmaeeli-Nieh S, Wieczorek D, Kariminejad R, Firouzabadi SG, Cohen M, Fattahi Z, Rost I, Mojahedi F, Hertzberg C, Dehghan A, Rajab A, Banavandi MJ, Hoffer J, Falah M, Musante L, Kalscheuer V, Ullmann R, Kuss AW, Tzschach A, Kahrizi K, Ropers HH タイトル Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 雑誌 Nature 478:57-63 (2011) DOI:10.1038/nature10423 PMID:27773430 著者 Di Donato N, Jean YY, Maga AM, Krewson BD, Shupp AB, Avrutsky MI, Roy A, Collins S, Olds C, Willert RA, Czaja AM, Johnson R, Stover JA, Gottlieb S, Bartholdi D, Rauch A, Goldstein A, Boyd-Kyle V, Aldinger KA, Mirzaa GM, Nissen A, Brigatti KW, Puffenberger EG, Millen KJ, Strauss KA, Dobyns WB, Troy CM, Jinks RN タイトル Mutations in CRADD Result in Reduced Caspase-2-Mediated Neuronal Apoptosis and Cause Megalencephaly with a Rare Lissencephaly Variant. 雑誌 Am J Hum Genet 99:1117-1129 (2016) DOI:10.1016/j.ajhg.2016.09.010 PMID:17618476 著者 Basel-Vanagaite L, Rainshtein L, Inbar D, Gothelf D, Hennekam R, Straussberg R タイトル Autosomal recessive mental retardation syndrome with anterior maxillary protrusion and strabismus: MRAMS syndrome. 雑誌 Am J Med Genet A 143A:1687-91 (2007) DOI:10.1002/ajmg.a.31810 |