Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia

Preferred Label : Immunodeficiency, X-linked, with magnesium defect, epstein-barr virus infection, and neoplasia;

Symbol : XMEN;

CISMeF acronym : XMEN;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the magnesium transporter 1 gene (MAGT1, 300715.0002);

Neoplasia : Increased susceptibility to EBV-associated B-cell lymphoproliferative disorders;

Laboratory abnormalities : Type 1 pattern of abnormal serum transferrin isoelectic focusing consistent with a glycosylation defect;

Prefixed ID : #300853;

Details

Origin ID

300853;

UMLS CUI

C3275445;

Automatic exact mappings (from CISMeF team)
- MAGT1 wt Allele [NCIt concept]
- 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
- X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia [NCIt concept]
- 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]
DO Cross reference
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia [DO Concept]
Genes related to phenotype
- Magnesium transporter 1 [OMIM gene]
HPO term(s)
- Autoimmune thrombocytopenia [HPO term]
- B-cell lymphoma [HPO term]
- Bronchiectasis [HPO term]
- Chronic active Epstein-Barr virus infection [HPO term]
- Decreased CD4:CD8 ratio [HPO term]
- Decreased CD69 upregulation upon TCR activation [HPO term]
- Decreased T cell activation [HPO term]
- Decreased proportion of CD4-positive T cells [HPO term]
- Decreased proportion of CD4-positive helper T cells [HPO term]
- Decreased specific anti-polysaccharide antibody level [HPO term]
- Hodgkin lymphoma [HPO term]
- Immunodeficiency [HPO term]
- Juvenile onset [HPO term]
- Lymphadenopathy [HPO term]
- Lymphoma [HPO term]
- Lymphoproliferative disorder [HPO term]
- Mediastinal lymphadenopathy [HPO term]
- Persistent CMV viremia [HPO term]
- Persistent EBV viremia [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent viral infections [HPO term]
- Severe varicella zoster infection [HPO term]
- Splenomegaly [HPO term]
- X-linked recessive inheritance [HPO term]
- Young adult onset [HPO term]
ORDO concept(s)
- X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-Linked Immunodeficiency with Magnesium Defect, Epstein-Barr Virus Infection and Neoplasia [NCIt concept]
- 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]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients