| H01876 | |
| H番号 | H01876 |
| 名称 | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation |
| 概要 | Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR) is a rare autosomal dominant or sporadic condition characterised by variable expression of microcephaly, eye problems including chorioretinopathy, congenital lymphoedema of the lower limbs, and mild-to-moderate intellectual disability. Historically, MCLMR was divided into two distinct entities: microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome, and chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome. Recently, heterozygous mutations in KIF11, a gene encoding a critical spindle motor protein of the Kinesin family, have been reported in individuals with MLCRD, and in individuals with CDMMR. This finding is suggestive of a single clinically variable spectrum. |
| カテゴリ | 先天奇形 |
| ネットワーク | - |
| 病因遺伝子 | KIF11 [HSA:3832] [KO:K10398] |
| 病原体 | - |
| 環境要因 | - |
| 発癌物質 | - |
| 治療薬 | - |
| コメント | - |
| リンク | ICD-11: LD20.2 ICD-10: Q87.8 MeSH: C537711 OMIM: 152950 |
| 文献 | PMID:1415329 著者 Feingold M, Bartoshesky L タイトル Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? 雑誌 Am J Med Genet 43:1030-1 (1992) DOI:10.1002/ajmg.1320430623 PMID:8556819 著者 Fryns JP, Smeets E, Van den Berghe H タイトル On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. 雑誌 Clin Genet 48:131-3 (1995) DOI:10.1111/j.1399-0004.1995.tb04072.x PMID:24281367 著者 Jones GE, Ostergaard P, Moore AT, Connell FC, Williams D, Quarrell O, Brady AF, Spier I, Hazan F, Moldovan O, Wieczorek D, Mikat B, Petit F, Coubes C, Saul RA, Brice G, Gordon K, Jeffery S, Mortimer PS, Vasudevan PC, Mansour S タイトル Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. 雑誌 Eur J Hum Genet 22:881-7 (2014) DOI:10.1038/ejhg.2013.263 PMID:25934493 著者 Schlogel MJ, Mendola A, Fastre E, Vasudevan P, Devriendt K, de Ravel TJ, Van Esch H, Casteels I, Arroyo Carrera I, Cristofoli F, Fieggen K, Jones K, Lipson M, Balikova I, Singer A, Soller M, Mercedes Villanueva M, Revencu N, Boon LM, Brouillard P, Vikkula M タイトル No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. 雑誌 Orphanet J Rare Dis 10:52 (2015) DOI:10.1186/s13023-015-0271-4 PMID:25115524 著者 Mirzaa GM, Enyedi L, Parsons G, Collins S, Medne L, Adams C, Ward T, Davitt B, Bicknese A, Zackai E, Toriello H, Dobyns WB, Christian S タイトル Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. 雑誌 Am J Med Genet A 164A:2879-86 (2014) DOI:10.1002/ajmg.a.36707 PMID:22284827 著者 Ostergaard P, Simpson MA, Mendola A, Vasudevan P, Connell FC, van Impel A, Moore AT, Loeys BL, Ghalamkarpour A, Onoufriadis A, Martinez-Corral I, Devery S, Leroy JG, van Laer L, Singer A, Bialer MG, McEntagart M, Quarrell O, Brice G, Trembath RC, Schulte-Merker S, Makinen T, Vikkula M, Mortimer PS, Mansour S, Jeffery S タイトル Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. 雑誌 Am J Hum Genet 90:356-62 (2012) DOI:10.1016/j.ajhg.2011.12.018 |