MCID: MGL011
MIFTS: 21

Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation

Categories: Genetic diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 57 29 13 6 40 73
Mlc2b 57 75
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b Remitting with or Without Mental Retardation 75
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 2b 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset of macrocephaly in the first year of life
brain mri abnormalities show improvement with time
brainstem, cerebellum, anterior inner rim of the corpus callosum, posterior limb of the internal capsule and the external capsule, and anterior inner rim of the corpus callosum may show disease involvement on mri


HPO:

32
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613926
MedGen 42 C3151356
MeSH 44 D056784
UMLS 73 C3151356

Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

OMIM : 57 Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011). Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A; 613925). For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (604004). (613926)

MalaCards based summary : Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation, also known as mlc2b, is related to megalencephalic leukoencephalopathy with subcortical cysts 2a. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation is HEPACAM (Hepatic And Glial Cell Adhesion Molecule). Affiliated tissues include brain, cerebellum and temporal lobe, and related phenotypes are macrocephaly and intellectual disability

UniProtKB/Swiss-Prot : 75 Leukoencephalopathy, megalencephalic, with subcortical cysts, 2B: A neurodegenerative disorder characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white-matter abnormalities on brain magnetic resonance imaging. The phenotype is milder that MLC2A, with better preserved cerebellar white matter and no subcortical cysts outside the temporal region. On follow-up, patients show normal or almost normal motor function. Some patients have normal intelligence, whereas others have a significant cognitive deficiency.

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 megalencephalic leukoencephalopathy with subcortical cysts 2a 29.9 HEPACAM LOC107984406

Symptoms & Phenotypes for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
megalencephaly
delayed motor development
cavum vergae
cavum septi pellucidi
diffuse swelling of cerebral white matter
more

Clinical features from OMIM:

613926

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 intellectual disability 32 very rare (1%) HP:0001249
3 megalencephaly 32 HP:0001355
4 clumsiness 32 HP:0002312
5 motor delay 32 HP:0001270
6 generalized hypotonia 32 HP:0001290
7 diffuse swelling of cerebral white matter 32 HP:0007341

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

Search Clinical Trials , NIH Clinical Center for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation:

# Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation 29 HEPACAM

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation:

41
Brain, Cerebellum, Temporal Lobe

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

UniProtKB/Swiss-Prot genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation:

75
# Symbol AA change Variation ID SNP ID
1 HEPACAM p.Gly89Asp VAR_065850 rs387907054
2 HEPACAM p.Gly89Ser VAR_065851 rs387907053
3 HEPACAM p.Arg92Trp VAR_065853 rs387907055
4 HEPACAM p.Asp128Asn VAR_065855
5 HEPACAM p.Arg288Cys VAR_065860 rs149782549

ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HEPACAM NM_152722.4(HEPACAM): c.265G> A (p.Gly89Ser) single nucleotide variant Pathogenic rs387907053 GRCh37 Chromosome 11, 124794786: 124794786
2 HEPACAM NM_152722.4(HEPACAM): c.265G> A (p.Gly89Ser) single nucleotide variant Pathogenic rs387907053 GRCh38 Chromosome 11, 124924890: 124924890
3 HEPACAM NM_152722.4(HEPACAM): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs387907055 GRCh37 Chromosome 11, 124794777: 124794777
4 HEPACAM NM_152722.4(HEPACAM): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs387907055 GRCh38 Chromosome 11, 124924881: 124924881
5 HEPACAM NM_152722.4(HEPACAM): c.442C> T (p.Pro148Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 124923996: 124923996
6 HEPACAM NM_152722.4(HEPACAM): c.442C> T (p.Pro148Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 124793892: 124793892
7 HEPACAM NM_152722.4(HEPACAM): c.592G> A (p.Asp198Asn) single nucleotide variant Uncertain significance rs570071609 GRCh37 Chromosome 11, 124793742: 124793742
8 HEPACAM NM_152722.4(HEPACAM): c.592G> A (p.Asp198Asn) single nucleotide variant Uncertain significance rs570071609 GRCh38 Chromosome 11, 124923846: 124923846

Expression for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

Search GEO for disease gene expression data for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation.

Pathways for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

GO Terms for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b,...

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74 UMLS via Orphanet
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