Immunodeficiency 36 with lymphoproliferation

Preferred Label : Immunodeficiency 36 with lymphoproliferation;

Symbol : IMD36;

CISMeF acronym : IMD36;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the phosphatidylinositol 3-kinase, regulatory subunit 1 gene (PIK3R1, 171833.0007);

Neoplasia : Chronic lymphocytic leukemia (rare); Classic Hodgkin lymphoma (in some patients); B-cell lymphoma (in some patients);

Prefixed ID : #616005;

Details

Origin ID

616005;

UMLS CUI

C4014934;

Automatic exact mappings (from CISMeF team)
- PIK3R1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Activated PI3K Delta Syndrome 2 [NCIt concept]
- immunodeficiency 36 [DO Concept]
DO Cross reference
- immunodeficiency 36 [DO Concept]
Genes related to phenotype
- Phosphatidylinositol 3-kinase, regulatory subunit 1 [OMIM gene]
HPO term(s)
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- B-cell lymphoma [HPO term]
- Bronchiectasis [HPO term]
- Chronic diarrhea [HPO term]
- Chronic lymphatic leukemia [HPO term]
- Decreased circulating antibody level [HPO term]
- Growth delay [HPO term]
- Immunodeficiency [HPO term]
- Lymphopenia [HPO term]
- Neurodevelopmental delay [HPO term]
- Recurrent bacterial infections [HPO term]
- Recurrent respiratory infections [HPO term]
- Short stature [HPO term]
- Splenomegaly [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 PI3K Delta Syndrome 2 [NCIt concept]
- immunodeficiency 36 [DO Concept]

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