| H01876 | |
| H number | H01876 |
| Name | Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation; Microcephaly, lymphedema, chorioretinal dysplasia (MLCRD) syndrome; Chorioretinal dysplasia, microcephaly, and mental retardation (CDMMR) syndrome |
| Description | 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. |
| Category | Congenital malformation |
| Network | - |
| Gene | KIF11 [HSA:3832] [KO:K10398] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | - |
| Other DBs | ICD-11: LD20.2 ICD-10: Q87.8 MeSH: C537711 OMIM: 152950 |
| Reference | PMID:1415329 AUTHORS Feingold M, Bartoshesky L TITLE Microcephaly, lymphedema, and chorioretinal dysplasia: a distinct syndrome? JOURNAL Am J Med Genet 43:1030-1 (1992) DOI:10.1002/ajmg.1320430623 PMID:8556819 AUTHORS Fryns JP, Smeets E, Van den Berghe H TITLE On the nosology of the "primary true microcephaly, chorioretinal dysplasia, lymphoedema" association. JOURNAL Clin Genet 48:131-3 (1995) DOI:10.1111/j.1399-0004.1995.tb04072.x PMID:24281367 AUTHORS 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 TITLE Microcephaly with or without chorioretinopathy, lymphoedema, or mental retardation (MCLMR): review of phenotype associated with KIF11 mutations. JOURNAL Eur J Hum Genet 22:881-7 (2014) DOI:10.1038/ejhg.2013.263 PMID:25934493 AUTHORS 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 TITLE No evidence of locus heterogeneity in familial microcephaly with or without chorioretinopathy, lymphedema, or mental retardation syndrome. JOURNAL Orphanet J Rare Dis 10:52 (2015) DOI:10.1186/s13023-015-0271-4 PMID:25115524 AUTHORS 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 TITLE Congenital microcephaly and chorioretinopathy due to de novo heterozygous KIF11 mutations: five novel mutations and review of the literature. JOURNAL Am J Med Genet A 164A:2879-86 (2014) DOI:10.1002/ajmg.a.36707 PMID:22284827 AUTHORS 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 TITLE Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. JOURNAL Am J Hum Genet 90:356-62 (2012) DOI:10.1016/j.ajhg.2011.12.018 |