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MLC2A
MCID: MGL010
MIFTS: 40
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Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (MLC2A)
Categories:
Genetic diseases, Mental diseases, Muscle diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
slowly progressive brainstem, cerebellum, internal and external capsule, inner rim of the corpus callosum may show disease involvement on mri onset of macrocephaly in the first year of life most patients become wheelchair-bound in later childhood HPO:31
megalencephalic leukoencephalopathy with subcortical cysts 2a:
Inheritance autosomal recessive inheritance Onset and clinical course slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Muscle diseases Mental diseases |
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OMIM® :
57
Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).
Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B; 613926). (613925) (Updated 05-Mar-2021)
MalaCards based summary : Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a, also known as mlc2a, is related to megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation and down syndrome, and has symptoms including seizures, ataxia and muscle spasticity. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a is HEPACAM (Hepatic And Glial Cell Adhesion Molecule), and among its related pathways/superpathways is Sudden Infant Death Syndrome (SIDS) Susceptibility Pathways. Affiliated tissues include cerebellum, heart and brain, and related phenotypes are macrocephaly and intellectual disability Disease Ontology : 12 A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, cognitive decline of variable severity, white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts that has material basis in homozygous or compound heterozygous mutation in HEPACAM on chromosome 11q24. UniProtKB/Swiss-Prot : 73 Leukoencephalopathy, megalencephalic, with subcortical cysts, 2A: A neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. The brain appears swollen on magnetic resonance imaging with white-matter abnormalities and subcortical cysts, in all stages of the disease. |
Diseases in the Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a family:
Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:
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Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:31 (show all 14)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:613925 (Updated 05-Mar-2021)UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:seizures, ataxia, muscle spasticity GenomeRNAi Phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:26
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MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:40
Cerebellum,
Heart,
Brain,
Smooth Muscle,
Cardiac Myocytes
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Articles related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:(show top 50) (show all 69)
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Genes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (1 elite genes):(show all 16) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:6 (show all 12)
UniProtKB/Swiss-Prot genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:73
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Search
GEO
for disease gene expression data for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a.
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Cellular components related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:
Biological processes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:
Molecular functions related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a according to GeneCards Suite gene sharing:
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