Immunodeficiency 48

Preferred Label : Immunodeficiency 48;

Symbol : IMD48;

CISMeF acronym : IMD48; STCD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : STCD; Selective t-cell defect;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the zeta-chain-associated protein kinase 70 gene (ZAP70, 176947.0001);

Laboratory abnormalities : Panhypogammaglobulinemia; Defective (Ca2 ) mobilization in T cells;

Prefixed ID : #269840;

Details

Origin ID

269840;

UMLS CUI

C5575025;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 48 [DO Concept]
Currated CISMeF NLP mapping
- Combined immunodeficiency due to ZAP70 deficiency [ORDO Disease]
- Deficiency of Zeta-chain associated protein kinase 70 (disorder) [SNOMED CT concept]
- Immunodeficiency 48 [NCIt concept]
- ZAP70 deficiency [MeSH Supplementary Concept]
- ZAP70 deficiency [MeSH concept]
DO Cross reference
- immunodeficiency 48 [DO Concept]
Genes related to phenotype
- Zeta-chain-associated protein kinase [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Diarrhea [HPO term]
- Eczematoid dermatitis [HPO term]
- Failure to thrive [HPO term]
- Hepatomegaly [HPO term]
- Panhypogammaglobulinemia [HPO term]
- Pneumonia [HPO term]
- Recurrent candida infections [HPO term]
- Splenomegaly [HPO term]
Not associated HPO term(s)
- Abnormal B cell count [HPO term]
- Abnormal natural killer cell count [HPO term]
ORDO concept(s)
- Combined immunodeficiency due to ZAP70 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Combined immunodeficiency due to ZAP70 deficiency [ORDO Disease]
- Deficiency of Zeta-chain associated protein kinase 70 (disorder) [SNOMED CT concept]
- Immunodeficiency 48 [NCIt concept]
- ZAP70 deficiency [MeSH concept]
- ZAP70 deficiency [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients