Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

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OMIM 57 152950 Disease Ontology 12 DOID:0060349 MeSH 44 C537711 D008831 MedGen 42 C1835265

KEGG 37 H01876 SNOMED-CT via HPO 69 263681008 271611007 109504005 22810007 275478007 249321001 249327002 708670007 29555009 246800008 23986001 11934000 128306009 193570009 247053007 204099004 7183006 42059000 57190000 314407005 204108000 61142002 7973008 246799009 65956007 387742006 76976005 24199005 248004009 61372001 16386004 234097001 30213001 44653001 51510002 17417006 69943009 228156007 247578003 91138005 398151007 398152000 86765009 221360009 397790002 224958001 95325000 253366007 405752007 70142008 111202002 129154003 269475001 87163000 93143009 16046003 230456007 53888004 115244002 118600007 188676008 21964009 237836003 237837007 422065006 111293003 406506008 7461003 421689001 95494009 700189007 83035003 22125009 14411002 271767006 402633003 128045006 128936008 385627004 36024000 372070002 46742003 more UMLS 73 C1835265 C0795793

OMIM : ⁵⁷ Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation is an autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes (summary by Ostergaard et al., 2012). Robitaille et al. (2014) found that MCLMR includes a broader spectrum of ocular disease, including retinal detachment with avascularity of the peripheral retina, and noted phenotypic overlap with familial exudative vitreoretinopathy (FEVR; see EVR1, 133780). Birtel et al. (2017) observed intrafamilial and intraindividual variability in retinal phenotype, and noted that syndromic manifestations in some patients are too subtle to be detected during a routine ophthalmologic evaluation. Variable expressivity and reduced penetrance have also been observed in some families (Jones et al., 2014; Li et al., 2016). Autosomal recessive forms of microcephaly with chorioretinopathy have been reported (see 251270). See also Mirhosseini-Holmes-Walton syndrome (autosomal recessive microcephaly with pigmentary retinopathy and mental retardation; 268050), which has been mapped to chromosome 8q21.3-q22.1. (152950)

MalaCards based summary : Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation, also known as lymphedema, microcephaly and chorioretinopathy syndrome, is related to microcephaly and chorioretinopathy, autosomal recessive, 1 and exudative vitreoretinopathy 1. An important gene associated with Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation is KIF11 (Kinesin Family Member 11). Affiliated tissues include eye, retina and skin, and related phenotypes are thick lower lip vermilion and thin upper lip vermilion

Disease Ontology : ¹² A syndrome characterized byvariable expression of microcephaly, ocular disorders including chorioretinopathy, congenital lymphedema of the lower limbs, and mild to moderate intellectual disability.

UniProtKB/Swiss-Prot : ⁷⁵ Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation: An autosomal dominant disorder that involves an overlapping but variable spectrum of central nervous system and ocular developmental anomalies. Microcephaly ranges from mild to severe and is often associated with mild to moderate developmental delay and a characteristic facial phenotype with upslanting palpebral fissures, broad nose with rounded tip, long philtrum with thin upper lip, prominent chin, and prominent ears. Chorioretinopathy is the most common eye abnormality, but retinal folds, microphthalmia, and myopic and hypermetropic astigmatism have also been reported, and some individuals have no overt ocular phenotype. Congenital lymphedema, when present, is typically confined to the dorsa of the feet, and lymphoscintigraphy reveals the absence of radioactive isotope uptake from the webspaces between the toes.

Clinical features from OMIM:

152950

Search Clinical Trials , NIH Clinical Center for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation

Search GEO for disease gene expression data for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation.