Immunodeficiency 44

Preferred Label : Immunodeficiency 44;

Symbol : IMD44;

CISMeF acronym : IMD44;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 2 (STAT2, 600556.0001);

Laboratory abnormalities : Increased plasma lactate (in some patients);

Prefixed ID : #616636;

Details

Origin ID

616636;

UMLS CUI

C4225260;

Automatic exact mappings (from CISMeF team)
- immunodeficiency 44 [DO Concept]
DO Cross reference
- immunodeficiency 44 [DO Concept]
Genes related to phenotype
- Signal transducer and activator of transcription 2 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Encephalopathy [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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