Immunodeficiency 31a

Preferred Label : Immunodeficiency 31a;

Symbol : IMD31A;

CISMeF acronym : IMD31A;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Immunodeficiency 31a, mycobacteriosis, autosomal dominant; Stat1 deficiency, autosomal dominant;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 1 gene (STAT1, 600555.0001);

Laboratory abnormalities : Poor immunologic response to gamma-interferon;

Prefixed ID : #614892;

Details

Origin ID

614892;

UMLS CUI

C4013950;

Automatic exact mappings (from CISMeF team)
- STAT1 wt Allele [NCIt concept]
- immunodeficiency 31A [DO Concept]
Currated CISMeF NLP mapping
- Autosomal dominant Stat1 deficiency [ICD-11 More detail]
- Mendelian susceptibility to mycobacterial disease due to partial signal transducer and activator of transcription 1 deficiency (disorder) [SNOMED CT concept]
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ORDO Disease]
DO Cross reference
- immunodeficiency 31A [DO Concept]
Genes related to phenotype
- Signal transducer and activator of transcription 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Herpes simplex encephalitis [HPO term]
- Immunodeficiency [HPO term]
- Incomplete penetrance [HPO term]
ORDO concept(s)
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant Stat1 deficiency [ICD-11 More detail]
- Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency [ORDO Disease]

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