X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia

Preferred Label : X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia;

NCIt synonyms : MAGT1 Deficiency;

NCIt related terms : X-Linked Immunodeficiency with Magnesium Defect Epstein-Barr Virus Infection and Neoplasia; XMEN;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the MAGT1 gene, encoding magnesium transporter protein 1. It is characterized by CD4 lymphopenia, defective T-cell activation and susceptibility to severe chronic viral infections, particularly Epstein-Barr virus (EBV), which may lead to the development of EBV-associated B-cell lymphoproliferative disorders.;

NCI Metathesaurus CUI : CL504902;

Details

Origin ID

C126336;

UMLS CUI

C3275445;

Automatic exact mappings (from CISMeF team)
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection or neoplasia [ICD-11 More detail]
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia [DO Concept]
Currated CISMeF NLP mapping
- Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia [OMIM Phenotype]
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia [ORDO Disease]
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (disorder) [SNOMED CT concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia [OMIM Phenotype]
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia (disorder) [SNOMED CT concept]
disease_mapped_to_gene
- MAGT1 Gene [NCIt concept]
related_to_genetic_biomarker
- MAGT1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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