Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR)

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Disease Ontology 12 DOID:0060349 OMIM 56 152950 KEGG 36 H01876 MeSH 43 C537711 D008831 MESH via Orphanet 44 C537711 ICD10 via Orphanet 33 Q87.8

UMLS via Orphanet 72 C1835265 C3501946 Orphanet 58 ORPHA2526 MedGen 41 C1835265 SNOMED-CT via HPO 68 109504005 111202002 111293003 115244002 118600007 11934000 128045006 128306009 128613002 128936008 129154003 13164000 14411002 16046003 16386004 17417006 188676008 193570009 204099004 204108000 21964009 22125009 221360009 224958001 22810007 228156007 230456007 234097001 237836003 237837007 23986001 24199005 246545002 246799009 246800008 247053007 247578003 248004009 249321001 249327002 253366007 26098002 263681008 269475001 271611007 271767006 275478007 29555009 30213001 313307000 314407005 36024000 372070002 37480005 38101003 385627004 387742006 397790002 398151007 398152000 402633003 405752007 406506008 413921009 42059000 421689001 422065006 44653001 46742003 51510002 53888004 563001 57190000 61142002 61372001 64634000 65956007 69943009 700189007 70142008 708670007 7183006 7461003 76976005 7973008 83035003 84757009 86765009 87163000 91138005 91175000 93143009 95325000 95494009 95735008 more UMLS 71 C0795793 C1835265

OMIM : ⁵⁶ 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 microcephaly and chorioretinopathy, autosomal recessive, 1. An important gene associated with Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation is KIF11 (Kinesin Family Member 11), and among its related pathways/superpathways is MHC class II antigen presentation. Affiliated tissues include eye, retina and skin, and related phenotypes are microcephaly and lymphedema

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.

KEGG : ³⁶ 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.

UniProtKB/Swiss-Prot : ⁷³ 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.