MCLMR
MCID: MCR216
MIFTS: 46
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Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation (MCLMR)
Categories:
Cardiovascular diseases, Eye diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Microcephaly with or Without Chorioretinopathy, Lymphedema, or...
MalaCards integrated aliases for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:
Name: Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation
57
12
73
36
29
13
6
15
Characteristics:Orphanet epidemiological data:58
microcephaly-lymphedema-chorioretinopathy syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
variable expressivity reduced penetrance syndromic manifestations may be subtle in patients ascertained for ocular anomalies progression of retinal atrophy (in some patients)
Inheritance:
autosomal dominant HPO:31
microcephaly with or without chorioretinopathy, lymphedema, or mental retardation:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Cardiovascular diseases Skin diseases
ICD10:
33
Orphanet: 58
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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) (Updated 05-Mar-2021)
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 and retina, 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. |
Human phenotypes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:58 31 (show top 50) (show all 94)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:152950 (Updated 05-Mar-2021)MGI Mouse Phenotypes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:46
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Cochrane evidence based reviews: lymphedema, microcephaly and chorioretinopathy syndrome |
MalaCards organs/tissues related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:40
Eye,
Retina
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Articles related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:(show all 32)
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ClinVar genetic disease variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:6 (show all 47)
UniProtKB/Swiss-Prot genetic disease variations for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation:73
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for disease gene expression data for Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation.
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Cellular components related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:
Biological processes related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:
Molecular functions related to Microcephaly with or Without Chorioretinopathy, Lymphedema, or Mental Retardation according to GeneCards Suite gene sharing:
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