Hypomyelination-hypogonadotropic Hypogonadism-hypodontia Syndrome

Description

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia.

Clinical Features

Phenotypes and symptoms related to Hypomyelination-hypogonadotropic Hypogonadism-hypodontia Syndrome

  • Ataxia
  • Hypodontia
  • Hypergonadotropic hypogonadism
  • CNS hypomyelination

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.

Alternative names

Hypomyelination-hypogonadotropic Hypogonadism-hypodontia Syndrome Is also known as 4h syndrome.

Researches and researchers

Doctors, researchs, and experts related to Hypomyelination-hypogonadotropic Hypogonadism-hypodontia Syndrome extracted from public data.

Hypomyelination-hypogonadotropic Hypogonadism-hypodontia Syndrome Experts map



Current Researchs and researchers

  • MONTRÉAL — Dr Geneviève BERNARD

    Investigator of research project

    • Institution/s:
      — Rm 200, Montreal Children's Hospital Research Institute - McGill University
    • Research area/topic::

      Clinical, molecular and pathophysiological characterization of POL III-related leukodystrophies



Mendelian

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Hypomyelination-hypogonadotropic Hypogonadism-hypodontia Syndrome 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
100 %
Genes
67 %
POLR3B. Complete sequencing.

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

POLR3B
Specificity
100 %
Genes
34 %
Leukodystrophy hypomyelinating type 8 (sequence analysis of POLR3B gene).

By CGC Genetics (Portugal).

POLR3B
Specificity
100 %
Genes
34 %
Leukodystrophy hypomyelinating (NGS panel for 3 genes).

By CGC Genetics (Portugal).

TUBB4A, POLR3A, POLR3B
Specificity
67 %
Genes
67 %
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
2 %
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
67 %
Epilepsy and Hypomyelination.

By MGZ Medical Genetics Center (Germany).

SPTAN1, TUBB4A, FAM126A, POLR3A, POLR3B, EIF2B3, FOLR1, PLP1
Specificity
25 %
Genes
67 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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