MCID: MGL010
MIFTS: 24

Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

MalaCards integrated aliases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

Name: Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 57 29 13 6 40 73
Mlc2a 57 75
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 2a 75

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:



Summaries for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

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 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.

Related Diseases for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Diseases in the Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a family:

Megalencephalic Leukoencephalopathy with Subcortical Cysts 1

Diseases related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation 30.2 HEPACAM LOC107984406
2 down syndrome 10.0

Symptoms & Phenotypes for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Head:
macrocephaly

Neurologic Central Nervous System:
seizures
ataxia
spasticity
dysarthria
megalencephaly
more

Clinical features from OMIM:

613925

Human phenotypes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 intellectual disability 32 HP:0001249
3 seizures 32 HP:0001250
4 ataxia 32 HP:0001251
5 spasticity 32 HP:0001257
6 dysarthria 32 HP:0001260
7 motor delay 32 HP:0001270
8 cerebellar atrophy 32 HP:0001272
9 megalencephaly 32 HP:0001355
10 cerebral atrophy 32 HP:0002059
11 ventriculomegaly 32 HP:0002119
12 progressive neurologic deterioration 32 HP:0002344
13 diffuse swelling of cerebral white matter 32 HP:0007341

UMLS symptoms related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:


ataxia, muscle spasticity, seizures

Drugs & Therapeutics for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

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

Genetic Tests for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Genetic tests related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

# Genetic test Affiliating Genes
1 Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a 29 HEPACAM

Anatomical Context for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

MalaCards organs/tissues related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

41
Brain, Temporal Lobe, Cerebellum

Publications for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

UniProtKB/Swiss-Prot genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

75
# Symbol AA change Variation ID SNP ID
1 HEPACAM p.Leu23His VAR_065849
2 HEPACAM p.Arg92Gln VAR_065852 rs387907050
3 HEPACAM p.Arg98Cys VAR_065854 rs387907052
4 HEPACAM p.Pro148Ser VAR_065857
5 HEPACAM p.Ser196Tyr VAR_065858 rs387907049
6 HEPACAM p.Asp211Asn VAR_065859 rs387907051

ClinVar genetic disease variations for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a:

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 HEPACAM NM_152722.4(HEPACAM): c.587C> A (p.Ser196Tyr) single nucleotide variant Pathogenic rs387907049 GRCh37 Chromosome 11, 124793747: 124793747
2 HEPACAM NM_152722.4(HEPACAM): c.587C> A (p.Ser196Tyr) single nucleotide variant Pathogenic rs387907049 GRCh38 Chromosome 11, 124923851: 124923851
3 HEPACAM HEPACAM, TRP263TER undetermined variant Pathogenic
4 HEPACAM NM_152722.4(HEPACAM): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs387907050 GRCh37 Chromosome 11, 124794776: 124794776
5 HEPACAM NM_152722.4(HEPACAM): c.275G> A (p.Arg92Gln) single nucleotide variant Pathogenic rs387907050 GRCh38 Chromosome 11, 124924880: 124924880
6 HEPACAM NM_152722.4(HEPACAM): c.631G> A (p.Asp211Asn) single nucleotide variant Pathogenic rs387907051 GRCh37 Chromosome 11, 124793703: 124793703
7 HEPACAM NM_152722.4(HEPACAM): c.631G> A (p.Asp211Asn) single nucleotide variant Pathogenic rs387907051 GRCh38 Chromosome 11, 124923807: 124923807
8 HEPACAM NM_152722.4(HEPACAM): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs387907052 GRCh37 Chromosome 11, 124794759: 124794759
9 HEPACAM NM_152722.4(HEPACAM): c.292C> T (p.Arg98Cys) single nucleotide variant Pathogenic rs387907052 GRCh38 Chromosome 11, 124924863: 124924863
10 HEPACAM NM_152722.4(HEPACAM): c.265G> A (p.Gly89Ser) single nucleotide variant Pathogenic rs387907053 GRCh37 Chromosome 11, 124794786: 124794786
11 HEPACAM NM_152722.4(HEPACAM): c.265G> A (p.Gly89Ser) single nucleotide variant Pathogenic rs387907053 GRCh38 Chromosome 11, 124924890: 124924890
12 HEPACAM NM_152722.4(HEPACAM): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs387907055 GRCh37 Chromosome 11, 124794777: 124794777
13 HEPACAM NM_152722.4(HEPACAM): c.274C> T (p.Arg92Trp) single nucleotide variant Pathogenic rs387907055 GRCh38 Chromosome 11, 124924881: 124924881
14 HEPACAM NM_152722.4(HEPACAM): c.442C> T (p.Pro148Ser) single nucleotide variant Likely pathogenic GRCh38 Chromosome 11, 124923996: 124923996
15 HEPACAM NM_152722.4(HEPACAM): c.442C> T (p.Pro148Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome 11, 124793892: 124793892

Expression for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

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

Pathways for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

GO Terms for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

Sources for Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a

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74 UMLS via Orphanet
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