Pelizaeus-merzbacher Disease; Pmd

Description

Pelizaeus-Merzbacher disease is an X-linked recessive hypomyelinative leukodystrophy (HLD1) in which myelin is not formed properly in the central nervous system. PMD is characterized clinically by nystagmus, spastic quadriplegia, ataxia, and developmental delay (Inoue, 2005). Genetic Heterogeneity of Hypomyelinating LeukodystrophyOther forms of hypomyelinating leukodystrophy include HLD2 (OMIM ), caused by mutation in the GJC2/GJA12 gene (OMIM ) on chromosome 1q41; HLD3 (OMIM ), caused by mutation in the AIMP1 gene (OMIM ) on chromosome 4q24; HLD4 (OMIM ), caused by mutation in the HSPD1 gene (OMIM ) on chromosome 2q33.1; and HLD5 (OMIM ), caused by mutation in the FAM126A gene (OMIM ) on chromosome 7p15; HLD6 (OMIM ), caused by mutation in the TUBB4A gene (OMIM ) on chromosome 19p13; HLD7 (OMIM ), caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22; HLD8 (OMIM ), caused by mutation in the POLR3B gene (OMIM ) on chromosome 12q23; HLD9 (OMIM ), caused by mutation in the RARS gene (OMIM ) on chromosome 5; HLD10 (OMIM ), caused by mutation in the PYCR2 gene (OMIM ) on chromosome 1q42; HLD11 (OMIM ), caused by mutation in the POLR1C gene (OMIM ) on chromosome 6p21; HLD12 (OMIM ), caused by mutation in the VPS11 gene (OMIM ) on chromosome 11q23; HLD13 (OMIM ) caused by mutation in the HIKESHI gene (OMIM ) on chromosome 11q14; HLD14 (OMIM ), caused by mutation in the UFM1 gene (OMIM ) on chromosome 13q13; HLD15 (OMIM ), caused by mutation in the EPRS gene (OMIM ) on chromosome 1q41; HLD16 (OMIM ), caused by mutation in the TMEM106B gene (OMIM ) on chromosome 7p21; and HLD17 (OMIM ), caused by mutation in the AIMP2 gene (OMIM ) on chromosome 7p22.

Clinical Features

Top most frequent phenotypes and symptoms related to Pelizaeus-merzbacher Disease; Pmd

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Nystagmus

And another 70 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available PELIZAEUS-MERZBACHER DISEASE; PMD have a estimated prevalence of 0.25 per 100k worldwide.
— The onset for some of the known clinical features related to this disease may vary, including infantile onset .

Alternative names

Pelizaeus-merzbacher Disease; Pmd Is also known as leukodystrophy, hypomyelinating, 1, hld1.

Researches and researchers

Doctors, researchs, and experts related to Pelizaeus-merzbacher Disease; Pmd extracted from public data.

Pelizaeus-merzbacher Disease; Pmd Experts map



Current Researchs and researchers

  • GÖTTINGEN — Pr Jutta GÄRTNER

    Coordinator of expert centre - Clinical expert - Investigator of research project - Director of department

    • Institution/s:
      — Universitätsmedizin Göttingen
      — Universitätsmedizin Göttingen
      — Zentrum Kinderheilkunde und Jugendmedizin - Abteilung Pädiatrie II, Universitätsmedizin Göttingen
    • Research area/topic::

      Clinical, molecular and functional characterization of connexin associated brain's white matter diseases (using the example of Pelizaeus-Merzbacher disease)


  • GÖTTINGEN — Dr Marco HENNEKE

    Clinical expert - Investigator of research project

    • Institution/s:
      — Universitätsmedizin Göttingen
      — Universitätsmedizin Göttingen
    • Research area/topic::

      Clinical, molecular and functional characterization of connexin associated brain's white matter diseases (using the example of Pelizaeus-Merzbacher disease)


Pelizaeus-merzbacher Disease; Pmd Recommended genes panels

Panel Name, Specifity and genes Tested/covered
PLP1 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PLP1
Specificity
100 %
Genes
100 %
PLP1 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PLP1
Specificity
100 %
Genes
100 %
PLP1 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PLP1
Specificity
100 %
Genes
100 %
PLP1 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

PLP1
Specificity
100 %
Genes
100 %
PLP1 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

PLP1
Specificity
100 %
Genes
100 %
PLP1 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

PLP1
Specificity
100 %
Genes
100 %
HSP, X-Linked Evaluation.

By Athena Diagnostics Inc (United States).

L1CAM, PLP1
Specificity
50 %
Genes
100 %
HSP, Comprehensive Evaluation.

By Athena Diagnostics Inc (United States).

RTN2, SACS, SPG11, ATL1, SPAST, SPG7, BSCL2, PNPLA6, NIPA1, SPART, SPG21, ZFYVE26, FA2H, AP5Z1, REEP1, CYP7B1, WASHC5, ALS2, HSPD1, KIF5A , (...)

View the complete list with 4 more genes
Specificity
5 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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