X-linked Lymphoproliferative Syndrome 2

Preferred Label : X-linked Lymphoproliferative Syndrome 2;

NCIt synonyms : XIAP Deficiency; XLP2; XLP2/XIAP;

NCIt related terms : XIAP Deficiency/XLPs;

NCIt definition : An X-linked lymphoproliferative disorder caused by mutations in the XIAP gene. Clinical manifestations include hemophagocytic lymphohistiocytosis (often associated with EBV), dysgammaglobulinemia, and inflammatory bowel disease. Patients are at an increased risk of developing lymphoma, typically B-cell non-Hodgkin lymphoma.;

Details

Origin ID

C126295;

UMLS CUI

C1845076;

Currated CISMeF NLP mapping
- Lymphoproliferative syndrome, X-linked, 2 [OMIM Phenotype]
- X-linked lymphoproliferative disease due to XIAP deficiency (disorder) [SNOMED CT concept]
- X-linked lymphoproliferative syndrome 2 [DO Concept]
- lymphoproliferative syndrome, X-Linked, 2 [MeSH Supplementary Concept]
- lymphoproliferative syndrome, X-Linked, 2 [MeSH concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Lymphoproliferative syndrome, X-linked, 2 [OMIM Phenotype]
- X-linked lymphoproliferative disease due to XIAP deficiency (disorder) [SNOMED CT concept]
- X-linked lymphoproliferative syndrome 2 [DO Concept]
- lymphoproliferative syndrome, X-Linked, 2 [MeSH Supplementary Concept]
- lymphoproliferative syndrome, X-Linked, 2 [MeSH concept]
disease_mapped_to_gene
- XIAP Gene [NCIt concept]
disease_may_have_associated_disease
- Lymphoproliferative Disease Associated with Primary Immune Disorder [NCIt concept]
related_to_genetic_biomarker
- XIAP Gene [NCIt concept]

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