Immunodeficiency 103, susceptibility to fungal infections

Preferred Label : Immunodeficiency 103, susceptibility to fungal infections;

Symbol : IMD103;

CISMeF acronym : CANDF2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Card9 immunodeficiency; Candidiasis, familial chronic mucocutaneous, autosomal recessive; Candidiasis, familial, 2; CANDF2;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the caspase recruitment domain containing 9 (CARD9, 607212.0001);

Prefixed ID : #212050;

Details

Origin ID

212050;

UMLS CUI

C1859353;

Automatic exact mappings (from CISMeF team)
- CARD9 wt Allele [NCIt concept]
- Predisposition to invasive fungal disease due to CARD9 deficiency [ORDO Disease]
Broader ORDO disease(s)
- Chronic mucocutaneous candidiasis [ORDO Disease]
Currated CISMeF NLP mapping
- CARD9 deficiency [MedDRA Preferred Term]
- Candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH concept]
- Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder) [SNOMED CT concept]
- candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH Supplementary Concept]
DO Cross reference
- chronic mucocutaneous candidiasis [DO Concept]
Genes related to phenotype
- Caspase recruitment domain-containing protein 9 [OMIM gene]
HPO term(s)
- Abnormality of blood and blood-forming tissues [HPO term]
- Autosomal recessive inheritance [HPO term]
- Chronic oral candidiasis [HPO term]
- Chronic tinea infection [HPO term]
- Decreased serum iron [HPO term]
- Deep dermatophytosis [HPO term]
- Hypereosinophilia [HPO term]
- Immunodeficiency [HPO term]
- Increased circulating IgE level [HPO term]
- Lymphadenopathy [HPO term]
- Meningitis [HPO term]
- Onychomycosis [HPO term]
Not associated HPO term(s)
- Abnormal B cell count [HPO term]
- Abnormal natural killer cell count [HPO term]
- Abnormal proportion of CD4-positive T cells [HPO term]
- Abnormal proportion of CD8-positive T cells [HPO term]
ORDO concept(s)
- Predisposition to invasive fungal disease due to CARD9 deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CARD9 deficiency [MedDRA Preferred Term]
- Candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH concept]
- Predisposition to invasive fungal disease due to caspase recruitment domain family member 9 deficiency (disorder) [SNOMED CT concept]
- candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH Supplementary Concept]

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