Immunodeficiency 31c

Preferred Label : Immunodeficiency 31c;

Symbol : IMD31C;

CISMeF acronym : CANDF7; IMD31C;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Candidiasis, familial chronic mucocutaneous, autosomal dominant; CANDF7; Candidiasis, familial, 7;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the signal transducer and activator of transcription 1 gene (STAT1, 600555.0008);

Laboratory abnormalities : Aberrant gamma-interferon-mediated inflammation;

Prefixed ID : #614162;

Details

Origin ID

614162;

UMLS CUI

C3279990;

Automatic exact mappings (from CISMeF team)
- Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome [ORDO Disease]
- STAT1 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- STAT1-Associated Immunodeficiency [NCIt concept]
- immunodeficiency 31C [DO Concept]
DO Cross reference
- chronic mucocutaneous candidiasis [DO Concept]
- immunodeficiency 31C [DO Concept]
Genes related to phenotype
- Signal transducer and activator of transcription 1 [OMIM gene]
HPO term(s)
- Abnormal intestine morphology [HPO term]
- Autoimmune hemolytic anemia [HPO term]
- Autoimmunity [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Delayed puberty [HPO term]
- Diabetes mellitus [HPO term]
- Diarrhea [HPO term]
- Eczema [HPO term]
- Growth delay [HPO term]
- Hypothyroidism [HPO term]
- Immune dysregulation [HPO term]
- Immunodeficiency [HPO term]
- Lymphopenia [HPO term]
- Osteopenia [HPO term]
- Recurrent respiratory infections [HPO term]
- Short stature [HPO term]
- Villous atrophy [HPO term]
ORDO concept(s)
- Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- STAT1-Associated Immunodeficiency [NCIt concept]

Keyword's position in hierarchy(ies) :

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