Immunodeficiency 14a with lymphoproliferation, autosomal dominant

Preferred Label : Immunodeficiency 14a with lymphoproliferation, autosomal dominant;

Symbol : IMD14A;

CISMeF acronym : IMD14;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PASLI; Activated pi3k-delta syndrome; P110-delta-activating mutation causing senescent t cells, lymphadenopathy, and immunodeficiency; APDS;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, catalytic subunit delta gene (PIK3CD, 602839.0001);

Neoplasia : Increased susceptibility to B-cell lymphoma;

Prefixed ID : #615513;

Details

Origin ID

615513;

UMLS CUI

C3714976;

Automatic exact mappings (from CISMeF team)
- Auditory processing disorder [ICD-11 More detail]
- PIK3CD wt Allele [NCIt concept]
- Pupil afferent light reaction normal (finding) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Activated PI3K-delta Syndrome [MeSH concept]
- Activated PI3K-delta Syndrome [MeSH Supplementary Concept]
- Activated PI3K-delta syndrome [ORDO Disease]
- Activated PI3K-delta syndrome (disorder) [SNOMED CT concept]
- Immunodeficiency 14 [NCIt concept]
- Immunodeficiency 14A, Autosomal Dominant [NCIt concept]
- activated PI3K delta syndrome [Disease (Nov.)]
- immunodeficiency 14 [DO Concept]
DO Cross reference
- immunodeficiency 14 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, catalytic, delta [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bronchiectasis [HPO term]
- Cellulitis [HPO term]
- Decreased circulating IgG2 level [HPO term]
- Decreased proportion of class-switched memory B cells [HPO term]
- Decreased specific pneumococcal antibody level [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgM level [HPO term]
- Increased proportion of transitional B cells [HPO term]
- Lymphadenopathy [HPO term]
- Recurrent ear infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinopulmonary infections [HPO term]
- Splenomegaly [HPO term]
- T lymphocytopenia [HPO term]
ORDO concept(s)
- Activated PI3K-delta syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Activated PI3 kinase delta syndrome [MedDRA Preferred Term]
- Activated PI3K Delta Syndrome [NCIt concept]
- Activated PI3K-delta Syndrome [MeSH concept]
- Activated PI3K-delta Syndrome [MeSH Supplementary Concept]
- Activated PI3K-delta syndrome [ORDO Disease]
- Activated PI3K-delta syndrome (disorder) [SNOMED CT concept]
- Immunodeficiency 14 [NCIt concept]
- Immunodeficiency 14A, Autosomal Dominant [NCIt concept]
- activated PI3K delta syndrome [Disease (Nov.)]
- immunodeficiency 14 [DO Concept]

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