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Pelizaeus-Merzbacher disease, connatal form

MedGen UID:
1842817
Concept ID:
C5679776
Disease or Syndrome
Synonyms: Connatal PMD; connatal PMD; Pelizaeus-Merzbacher disease type II; severe PMD; Severe PMD
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.
 
Monarch Initiative: MONDO:0017221
Orphanet: ORPHA280210

Definition

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPelizaeus-Merzbacher disease, connatal form

Recent clinical studies

Etiology

Svenstrup K, Giraud G, Boespflug-Tanguy O, Danielsen ER, Thomsen C, Rasmussen K, Law I, Vogel A, Stokholm J, Crone C, Hjermind LE, Nielsen JE
J Neurol Neurosurg Psychiatry 2010 Jun;81(6):666-72. Epub 2009 Dec 1 doi: 10.1136/jnnp.2009.180315. PMID: 19955111

Diagnosis

Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E
Folia Neuropathol 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. PMID: 27179222
Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J
Med Wieku Rozwoj 2013 Oct-Dec;17(4):293-300. PMID: 24519770
Woodward KJ
Expert Rev Mol Med 2008 May 19;10:e14. doi: 10.1017/S1462399408000677. PMID: 18485258
Wang PJ, Young C, Liu HM, Chang YC, Shen YZ
Pediatr Neurol 1995 Jan;12(1):47-53. doi: 10.1016/0887-8994(94)00124-k. PMID: 7748360
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM
Neuropediatrics 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. PMID: 1857497

Prognosis

Mierzewska H, Jamroz E, Mazurczak T, Hoffman-Zacharska D, Szczepanik E
Folia Neuropathol 2016;54(1):59-65. doi: 10.5114/fn.2016.58916. PMID: 27179222
Hoffman-Zacharska D, Mierzewska H, Szczepanik E, Poznański J, Mazurczak T, Jakubiuk-Tomaszuk A, Mądry J, Kierdaszuk A, Bal J
Med Wieku Rozwoj 2013 Oct-Dec;17(4):293-300. PMID: 24519770
Seeman P, Paderova K, Benes V Jr, Sistermans EA
Int J Mol Med 2002 Feb;9(2):125-9. PMID: 11786921
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM
Neuropediatrics 1991 May;22(2):71-8. doi: 10.1055/s-2008-1071420. PMID: 1857497
Gencic S, Abuelo D, Ambler M, Hudson LD
Am J Hum Genet 1989 Sep;45(3):435-42. PMID: 2773936Free PMC Article

Clinical prediction guides

Kitsiou-Tzeli S, Konstantinidou A, Sofocleous C, Kosma K, Syrmou A, Giannikou K, Sifakis S, Makrythanasis P, Tzetis M
Birth Defects Res A Clin Mol Teratol 2012 Jun;94(6):494-8. Epub 2012 Apr 18 doi: 10.1002/bdra.23015. PMID: 22511562
Mayer JA, Larsen EC, Kondo Y, Duncan ID
Neurobiol Dis 2011 Nov;44(2):231-8. Epub 2011 Jul 18 doi: 10.1016/j.nbd.2011.07.007. PMID: 21784154
Seeman P, Paderova K, Benes V Jr, Sistermans EA
Int J Mol Med 2002 Feb;9(2):125-9. PMID: 11786921
Gencic S, Abuelo D, Ambler M, Hudson LD
Am J Hum Genet 1989 Sep;45(3):435-42. PMID: 2773936Free PMC Article
Ulrich J, Herschkowitz N
Acta Neuropathol 1977 Oct 10;40(2):129-36. doi: 10.1007/BF00688701. PMID: 201145

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