Lymphoproliferative syndrome, X-linked, 2

Preferred Label : Lymphoproliferative syndrome, X-linked, 2;

Symbol : XLP2;

CISMeF acronym : XLP2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Xiap deficiency;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the X-linked inhibitor of apoptosis gene (XIAP, 300079.0001);

Prefixed ID : #300635;

Details

Origin ID

300635;

UMLS CUI

C1845076;

Automatic exact mappings (from CISMeF team)
- X-linked lymphoproliferative disease due to XIAP deficiency [ORDO Disease]
Broader ORDO disease(s)
- X-linked lymphoproliferative disease [ORDO Disease]
Currated CISMeF NLP mapping
- X-linked Lymphoproliferative Syndrome 2 [NCIt concept]
- 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 concept]
- lymphoproliferative syndrome, X-Linked, 2 [MeSH Supplementary Concept]
DO Cross reference
- X-linked lymphoproliferative syndrome 2 [DO Concept]
Genes related to phenotype
- Inhibitor of apoptosis, X-linked [OMIM gene]
HPO term(s)
- Acne [HPO term]
- Aplastic anemia [HPO term]
- Colitis [HPO term]
- Decreased circulating antibody level [HPO term]
- Erythema nodosum [HPO term]
- Fever [HPO term]
- Folliculitis [HPO term]
- Hemophagocytosis [HPO term]
- Hepatitis [HPO term]
- Hepatomegaly [HPO term]
- Hypertriglyceridemia [HPO term]
- Hypofibrinogenemia [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating ferritin concentration [HPO term]
- Inflammation of the large intestine [HPO term]
- Pancytopenia [HPO term]
- Recurrent fever [HPO term]
- Recurrent infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent skin infections [HPO term]
- Splenomegaly [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked lymphoproliferative disease [ORDO Disease]
- X-linked lymphoproliferative disease due to XIAP deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- X-linked Lymphoproliferative Syndrome 2 [NCIt concept]
- 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]
Validated automatic mappings to NTBT
- X-linked lymphoproliferative disease [ORDO Disease]

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