Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (MLC2A)

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OMIM 57 613925 Disease Ontology 12 DOID:0080318 MedGen 42 C3151355

MeSH 44 D056784 SNOMED-CT via HPO 69 258211005 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 221360009 397790002 8011004 95646004 19410003 278849000 418143002 52522001 more UMLS 73 C3151355

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)

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). Affiliated tissues include brain, cerebellum and temporal lobe, 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 : 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.

Clinical features from OMIM:

613925

Search Clinical Trials , NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Search GEO for disease gene expression data for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a.