Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia

Preferred Label : Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia;

Symbol : IMD71;

CISMeF acronym : PLTEID; IMD71;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : PLTEID; Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the actin-related protein 2/3 complex, subunit 1B gene (ARPC1B, 604223.0001);

Prefixed ID : #617718;

Details

Origin ID

617718;

UMLS CUI

C4540232;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 71 [DO Concept]
DO Cross reference
- immunodeficiency 71 [DO Concept]
Genes related to phenotype
- Actin-related protein 2/3 complex, subunit 1b [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Decreased mean platelet volume [HPO term]
- Elevated erythrocyte sedimentation rate [HPO term]
- Failure to thrive [HPO term]
- Inflammation of the large intestine [HPO term]
- Lymphadenopathy [HPO term]
- Lymphocytosis [HPO term]
- Recurrent infections [HPO term]
- Thrombocytopenia [HPO term]
- Vasculitis [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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