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MCID: MGL010
MIFTS: 24
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Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a
Categories:
Genetic diseases, Rare diseases, Neuronal diseases
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MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:
Characteristics:OMIM:57
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:32
megalencephalic leukoencephalopathy with subcortical cysts 2a:
Onset and clinical course slow progression Inheritance autosomal recessive inheritance Classifications: |
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OMIM
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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)
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 ataxia, muscle spasticity and seizures. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a is HEPACAM (Hepatic And Glial Cell Adhesion Molecule). Affiliated tissues include brain, temporal lobe and cerebellum, and related phenotypes are macrocephaly and intellectual disability UniProtKB/Swiss-Prot : 75 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:
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Clinical features from OMIM:613925Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:32 (show all 13)
UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:ataxia, muscle spasticity, seizures |
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MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:41
Brain,
Temporal Lobe,
Cerebellum
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Genes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (1 elite genes):
- Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:75
ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:6
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Search
GEO
for disease gene expression data for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a.
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