Pelizaeus-Merzbacher disease, transitional form

MedGen UID:: 199764
•Concept ID:: C0751917
•: Disease or Syndrome

Synonyms:	Pelizaeus Merzbacher Disease, Transitional; Pelizaeus-Merzbacher Disease, Transitional; Transitional Pelizaeus Merzbacher Disease; Transitional Pelizaeus-Merzbacher Disease
Modes of inheritance:	X-linked recessive inheritance MedGen UID: 375779 •Concept ID: C1845977 • Finding Source: Orphanet A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. See: This record X-linked recessive inheritance (Orphanet)

Monarch Initiative:	MONDO:0017223
Orphanet:	ORPHA280224

Definition

The transitional form of Pelizaeus-Merzbacher disease (PMD) is the intermediate form of PMD (see this term). [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVPelizaeus-Merzbacher disease, transitional form

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Degenerative disorder
      - Degenerative disease of the central nervous system
        Pelizaeus-Merzbacher disease
        Pelizaeus-Merzbacher disease, transitional form

Follow this link to review classifications for Pelizaeus-Merzbacher disease, transitional form in Orphanet.

Recent clinical studies

Diagnosis

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.

Wolf NI, Sistermans EA, Cundall M, Hobson GM, Davis-Williams AP, Palmer R, Stubbs P, Davies S, Endziniene M, Wu Y, Chong WK, Malcolm S, Surtees R, Garbern JY, Woodward KJ
Brain 2005 Apr;128(Pt 4):743-51. Epub 2005 Feb 2 doi: 10.1093/brain/awh409. PMID: 15689360

Connatal Pelizaeus-Merzbacher disease with congenital stridor in two maternal cousins.

Renier WO, Gabreëls FJ, Hustinx TW, Jaspar HH, Geelen JA, Van Haelst UJ, Lommen EJ, Ter Haar BG
Acta Neuropathol 1981;54(1):11-7. doi: 10.1007/BF00691328. PMID: 7234326

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