Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation; Mlc2b

Description

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 ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation; Mlc2b

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Spasticity
  • Motor delay
  • Macrocephaly
  • Autism
  • Abnormality of the cerebral white matter
  • Clumsiness
  • Leukoencephalopathy

And another 3 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

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Megalencephalic Leukoencephalopathy With Subcortical Cysts 2b, Remitting, With Or Without Mental Retardation; Mlc2b Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Macrocephaly Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Macrocephaly Sequencing Panel.

By Genetic Services Laboratory University of Chicago (United States).

MED12, NSD1, RAB39B, BRWD3, SETD2, RIN2, UPF3B, TBC1D7, RNF125, RNF135, CUL4B, OFD1, HEPACAM, EZH2, GLI3, GPC3, HERC1, KPTN, NFIA, NFIX , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
Ataxia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, RTN2, SACS, SCN1A, SCN2A, SCN8A, SCO1, SDHA, SDHD, SLC16A2, SLC17A5, SLC19A2, SLC1A3, SLC20A2, SLC2A1, SLC6A1, SLC9A1, SLC9A6, SNAP25, SOD1 , (...)

View the complete list with 457 more genes
Specificity
1 %
Genes
100 %
HEPACAM-Related Megalencephalic Leukoencephalopathy with Subcortical Cysts.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

HEPACAM
Specificity
100 %
Genes
100 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a.

By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center (Netherlands).

HEPACAM
Specificity
100 %
Genes
100 %
Megalencephalic Leukoencephalopathy with Subcortical Cysts 2b.

By Center for Childhood White Matter Disorders Vrije Universiteit Medical Center (Netherlands).

HEPACAM
Specificity
100 %
Genes
100 %
Megalencephalic leukoencephalopathy with subcortical cysts (sequence analysis of HEPACAM gene).

By CGC Genetics (Portugal).

HEPACAM
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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