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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. See: This record X-linked recessive inheritance (Orphanet)

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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVNull syndrome

Disease
- Non-Neoplastic Disorder
  - Non-Neoplastic Disorder by Special Category
    - Degenerative disorder
      - Degenerative disease of the central nervous system
        Pelizaeus-Merzbacher disease
        Null syndrome

Professional guidelines

PubMed

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

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

See all (1)

Recent clinical studies

Etiology

In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.

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

A novel PLP1 mutation further expands the clinical heterogeneity at the locus.

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

Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.

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

Anti-Rh 29 in a primigravida with rhesus null syndrome resulting in haemolytic disease of the newborn.

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

Red cell membrane and cation deficiency in Rh null syndrome.

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

See all (5)

Diagnosis

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

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

In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.

Red cell membrane and cation deficiency in Rh null syndrome.

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

See all (3)

Therapy

Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin.

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

See all (1)

Prognosis

Inherited white matter disorders: Hypomyelination (myelin disorders).

Perrier S, Gauquelin L, Bernard G
Handb Clin Neurol 2024;204:197-223. doi: 10.1016/B978-0-323-99209-1.00014-4. PMID: 39322379

Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.

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

See all (2)

Clinical prediction guides

Further genotype-phenotype correlation emerging from two families with PLP1 exon 4 skipping.

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

In vitro generated Rh(null) red cells recapitulate the in vivo deficiency: a model for rare blood group phenotypes and erythroid membrane disorders.

Molecular basis for Rh(null) syndrome: identification of three new missense mutations in the Rh50 glycoprotein gene.

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

See all (3)

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Null syndrome

Definition

Term Hierarchy

Professional guidelines

PubMed

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

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Table of contents

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Practice guidelines

Consumer resources

Reviews

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