PMP22 wt Allele

Preferred Label : PMP22 wt Allele;

NCIt synonyms : Sp110; HNPP; HMSNIA; MGC20769; CMT1E; Peripheral Myelin Protein 22 wt Allele; GAS-3; DSS; CMT1A;

NCIt definition : Human PMP22 wild-type allele is located within 17p12-p11.2 and is approximately 36 kb in length. This allele, which encodes peripheral myelin protein 22, plays a role in the modulation of the structure of myelin. Mutation of the gene is associated with Charcot-Marie-Tooth disease Types IA and IE, Dejerine-Sottas syndrome, inflammatory demyelinating polyneuropathy and hereditary neuropathy with liability to pressure palsies.;

GenBank Accession Number : D11428;

Details

Origin ID

C75901;

UMLS CUI

C2698698;

Automatic exact mappings (from CISMeF team)
- 46,XY sex reversal 2 [DO Concept]
- Charcot-Marie-Tooth disease type 1A [DO Concept]
- Charcot-Marie-Tooth disease type 1E [DO Concept]
- Charcot-Marie-Tooth disease, demyelinating, type 1e [MeSH Supplementary Concept]
- Charcot-marie-tooth disease, demyelinating, type 1a [OMIM Phenotype]
- Dengue shock syndrome (disorder) [SNOMED CT concept]
- Disorganization, mouse, homolog of [OMIM Phenotype]
- Disproportionate short stature (disorder) [SNOMED CT concept]
- Hereditary neuropathy with liability to pressure palsies [ICD-11 More detail]
- Hypertrophic neuropathy of dejerine-sottas [OMIM Phenotype]
- Neuropathy, hereditary, with liability to pressure palsies [OMIM Phenotype]
- Nuclear body protein sp110 [OMIM gene]
- Peripheral myelin protein 22 [OMIM gene]
- SP110 nuclear body protein [ORDO Gene]
- dengue shock syndrome [DO Concept]
- hereditary neuropathy with liability to pressure palsies [DO Concept]
- nuclear receptor subfamily 0 group B member 1 [ORDO Gene]
- peripheral myelin protein 22 [ORDO Gene]
False automatic mappings
- Charcot-Marie-Tooth disease type 1A [ORDO Disease]
- Charcot-Marie-Tooth disease type 1E [ORDO Disease]
- Hereditary neuropathy with liability to pressure palsies [ORDO Disease]
OMIM relation
- Peripheral myelin protein 22 [OMIM gene]
See also inter- (CISMeF)
- 46,xy sex reversal 2 [OMIM Phenotype]
- Charcot-Marie-Tooth disease 1 autosomal dominant due to chromosome 17 duplication [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_associated_with_disease
- Charcot-Marie-Tooth Disease Type 1A [NCIt concept]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 17p12-p11.2 [NCIt concept]
gene_plays_role_in_process
- Neural Development [NCIt concept]

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