Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism; Hld8

Description

Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Clinical Features

Top most frequent phenotypes and symptoms related to Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism; Hld8

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Myopia
  • Dysphagia

And another 24 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

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.

Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/or Hypogonadotropic Hypogonadism; Hld8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 %
POLIII- Related Leukodystrophies.

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

POLR3A, POLR3B
Specificity
50 %
Genes
100 %
POLR3B. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

POLR3B
Specificity
100 %
Genes
100 %
Leukodystrophy hypomyelinating type 8 (sequence analysis of POLR3B gene).

By CGC Genetics (Portugal).

POLR3B
Specificity
100 %
Genes
100 %
Leukodystrophy hypomyelinating (NGS panel for 3 genes).

By CGC Genetics (Portugal).

TUBB4A, POLR3A, POLR3B
Specificity
34 %
Genes
100 %
Leukodystrophy and Leukoencephalopathy Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SCP2, AIMP1, SDHB, SLC16A2, SLC17A5, SLC25A1, SLC25A12, SLC25A4, SOX10, SPG11, SPG7, SUCLA2, SURF1, TWNK, ACOX1, TREX1, TUFM, TYROBP, WARS2, MCOLN1 , (...)

View the complete list with 135 more genes
Specificity
1 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
100 %
Epilepsy and Hypomyelination.

By MGZ Medical Genetics Center (Germany).

SPTAN1, TUBB4A, FAM126A, POLR3A, POLR3B, EIF2B3, FOLR1, PLP1
Specificity
13 %
Genes
100 %

You can get up to 21 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Search Engine

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