MLC2B
MCID: MGL011
MIFTS: 29

Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation (MLC2B)

Categories: Genetic diseases, Mental diseases, Neuronal 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 12 29 13 6 70
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b 12 15
Mlc2b 57 72
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b Remitting with or Without Mental Retardation 72
Leukoencephalopathy, Megalencephalic, with Subcortical Cysts, 2b 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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:

31
megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without mental retardation:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080317
OMIM® 57 613926
OMIM Phenotypic Series 57 PS604004
MeSH 44 D056784
MedGen 41 C3151356
UMLS 70 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) (Updated 05-Apr-2021)

MalaCards based summary : Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation, also known as megalencephalic leukoencephalopathy with subcortical cysts 2b, is related to megalencephalic leukoencephalopathy with subcortical cysts 2a and gilles de la tourette syndrome. 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 intellectual disability and macrocephaly

Disease Ontology : 12 A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has material basis in heterozygous mutation in HEPACAM on chromosome 11q24.

UniProtKB/Swiss-Prot : 72 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 27.8 TBCEL SORL1 SC5D ROBO4 ROBO3 PKNOX2
2 gilles de la tourette syndrome 9.7 ROBO4 ROBO3

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

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

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 macrocephaly 31 HP:0000256
3 megalencephaly 31 HP:0001355
4 motor delay 31 HP:0001270
5 clumsiness 31 HP:0002312
6 generalized hypotonia 31 HP:0001290
7 diffuse white matter abnormalities 31 HP:0007204
8 diffuse swelling of cerebral white matter 31 HP:0007341

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Head:
macrocephaly

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

Clinical features from OMIM®:

613926 (Updated 05-Apr-2021)

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:

40
Brain, Cerebellum, Temporal Lobe

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

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

(show all 12)
# Title Authors PMID Year
1
Mutant GlialCAM causes megalencephalic leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism. 57 6
21419380 2011
2
Megalencephalic leukoencephalopathy with cysts without MLC1 defect. 57
20517947 2010
3
White matter abnormality in Jacobsen syndrome assessed by serial MRI. 61
32507665 2020
4
Structural basis for the dominant or recessive character of GLIALCAM mutations found in leukodystrophies. 61
31960914 2020
5
[Analysis of a child with megalencephalic leukoencephalopathy with subcortical cyst type 2B caused by HEPACAM variant]. 61
32335882 2020
6
Megalencephalic Leukoencephalopathy: Insights Into Pathophysiology and Perspectives for Therapy. 61
33551753 2020
7
Identification in Chinese patients with GLIALCAM mutations of megalencephalic leukoencephalopathy with subcortical cysts and brain pathological study on Glialcam knock-in mouse models. 61
31372844 2019
8
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants. 61
29661901 2018
9
Recombinant bovine growth hormone (rBGH) enhances somatic growth by regulating the GH-IGF axis in fingerlings of gilthead sea bream (Sparus aurata). 61
28666853 2018
10
Transient up- and down-regulation of expression of myosin light chain 2 and myostatin mRNA mark the changes from stratified hyperplasia to muscle fiber hypertrophy in larvae of gilthead sea bream (Sparus aurata L.). 61
26246399 2016
11
Expanding the spectrum of megalencephalic leukoencephalopathy with subcortical cysts in two patients with GLIALCAM mutations. 61
24202401 2014
12
Megalencephalic Leukoencephalopathy with Subcortical Cysts 61
20301707 2003

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

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 HEPACAM NM_152722.5(HEPACAM):c.274C>T (p.Arg92Trp) SNV Pathogenic 30921 rs387907055 GRCh37: 11:124794777-124794777
GRCh38: 11:124924881-124924881
2 HEPACAM NM_152722.5(HEPACAM):c.265G>A (p.Gly89Ser) SNV Pathogenic 30919 rs387907053 GRCh37: 11:124794786-124794786
GRCh38: 11:124924890-124924890
3 HEPACAM NM_152722.5(HEPACAM):c.442C>T (p.Pro148Ser) SNV Likely pathogenic 433199 rs1555055028 GRCh37: 11:124793892-124793892
GRCh38: 11:124923996-124923996
4 HEPACAM NM_152722.5(HEPACAM):c.592G>A (p.Asp198Asn) SNV Uncertain significance 522820 rs570071609 GRCh37: 11:124793742-124793742
GRCh38: 11:124923846-124923846
5 HEPACAM NM_152722.5(HEPACAM):c.128T>A (p.Ile43Asn) SNV Uncertain significance 638399 rs781030435 GRCh37: 11:124794923-124794923
GRCh38: 11:124925027-124925027
6 HEPACAM NM_152722.5(HEPACAM):c.614C>T (p.Thr205Ile) SNV Uncertain significance 435410 rs746134081 GRCh37: 11:124793720-124793720
GRCh38: 11:124923824-124923824

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

72
# 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

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,...

Cellular components related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon GO:0030424 8.8 ROBO4 ROBO3 HEPACAM

Biological processes related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dendrite self-avoidance GO:0070593 8.62 ROBO4 ROBO3

Molecular functions related to Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b, Remitting, with or Without Mental Retardation according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell-cell adhesion mediator activity GO:0098632 8.62 ROBO4 ROBO3

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
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30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
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45 MESH via Orphanet
46 MGI
49 NCI
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56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
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71 UMLS via Orphanet
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