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Null syndrome

MedGen UID:
1740046
Concept ID:
C5439441
Disease or Syndrome
Synonyms: null syndrome; Pelizaeus-Merzbacher disease null syndrome; Pelizaeus-Merzbacher disease, null syndrome; PLP1 null syndrome
SNOMED CT: PLP1 null syndrome (1003447007); Null syndrome (1003447007); Pelizaeus-Merzbacher disease null syndrome (1003447007)
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:0017225
Orphanet: ORPHA280234

Definition

The null syndrome is part of the Pelizaeus-Merzbacher disease (PMD; see this term) spectrum and is characterized by mild PMD features associated with demyelinating peripheral neuropathy. [from ORDO]

Term Hierarchy

Professional guidelines

PubMed

Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M
Clin Genet 2014 Mar;85(3):267-72. Epub 2013 May 27 doi: 10.1111/cge.12154. PMID: 23711321

Recent clinical studies

Etiology

Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP
Am J Hematol 2013 May;88(5):343-9. Epub 2013 Mar 15 doi: 10.1002/ajh.23414. PMID: 23417980
Hand CK, Bernard G, Dubé MP, Shevell MI, Rouleau GA
Can J Neurol Sci 2012 Mar;39(2):220-4. doi: 10.1017/s0317167100013263. PMID: 22343157
Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
Am J Hematol 1999 Sep;62(1):25-32. doi: 10.1002/(sici)1096-8652(199909)62:1<25::aid-ajh5>3.0.co;2-k. PMID: 10467273
Gabra GS, Bruce M, Watt A, Mitchell R
Vox Sang 1987;53(3):143-6. doi: 10.1111/j.1423-0410.1987.tb04938.x. PMID: 3120413
Ballas SK, Clark MR, Mohandas N, Colfer HF, Caswell MS, Bergren MO, Perkins HA, Shohet SB
Blood 1984 May;63(5):1046-55. PMID: 6324926

Diagnosis

Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M
Clin Genet 2014 Mar;85(3):267-72. Epub 2013 May 27 doi: 10.1111/cge.12154. PMID: 23711321
Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP
Am J Hematol 2013 May;88(5):343-9. Epub 2013 Mar 15 doi: 10.1002/ajh.23414. PMID: 23417980
Ballas SK, Clark MR, Mohandas N, Colfer HF, Caswell MS, Bergren MO, Perkins HA, Shohet SB
Blood 1984 May;63(5):1046-55. PMID: 6324926

Therapy

Yaswen L, Diehl N, Brennan MB, Hochgeschwender U
Nat Med 1999 Sep;5(9):1066-70. doi: 10.1038/12506. PMID: 10470087

Prognosis

Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
Am J Hematol 1999 Sep;62(1):25-32. doi: 10.1002/(sici)1096-8652(199909)62:1<25::aid-ajh5>3.0.co;2-k. PMID: 10467273

Clinical prediction guides

Biancheri R, Grossi S, Regis S, Rossi A, Corsolini F, Rossi DP, Cavalli P, Severino M, Filocamo M
Clin Genet 2014 Mar;85(3):267-72. Epub 2013 May 27 doi: 10.1111/cge.12154. PMID: 23711321
Cambot M, Mazurier C, Canoui-Poitrine F, Hebert N, Picot J, Clay D, Picard V, Ripoche P, Douay L, Dubart-Kupperschmitt A, Cartron JP
Am J Hematol 2013 May;88(5):343-9. Epub 2013 Mar 15 doi: 10.1002/ajh.23414. PMID: 23417980
Huang CH, Cheng G, Liu Z, Chen Y, Reid ME, Halverson G, Okubo Y
Am J Hematol 1999 Sep;62(1):25-32. doi: 10.1002/(sici)1096-8652(199909)62:1<25::aid-ajh5>3.0.co;2-k. PMID: 10467273

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