Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a; Mlc2a

Description

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 ).

Clinical Features

Top most frequent phenotypes and symptoms related to Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a; Mlc2a

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Motor delay
  • Dysarthria
  • Macrocephaly
  • Ventriculomegaly
  • Cerebellar atrophy
  • Cerebral atrophy

And another 9 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

Not enough data available about incidence and published cases.
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Megalencephalic Leukoencephalopathy With Subcortical Cysts 2a; Mlc2a 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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