Immunodeficiency 51

Preferred Label : Immunodeficiency 51;

Symbol : IMD51;

CISMeF acronym : CANDF5; IMD51;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Candidiasis, familial, 5; CANDF5;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the interleukin 17 receptor A gene (IL17RA, 605461.0001);

Prefixed ID : #613953;

Details

Origin ID

613953;

UMLS CUI

C4310803;

Automatic exact mappings (from CISMeF team)
- IL17RA wt Allele [NCIt concept]
- immunodeficiency 51 [DO Concept]
DO Cross reference
- immunodeficiency 51 [DO Concept]
False automatic mappings
- Candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH concept]
- candidiasis familial chronic mucocutaneous, autosomal recessive [MeSH Supplementary Concept]
Genes related to phenotype
- Interleukin 17 receptor a [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Chronic furunculosis [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Chronic oral candidiasis [HPO term]
- Cutaneous abscess [HPO term]
- Eczema [HPO term]
- Folliculitis [HPO term]
- Pneumonia [HPO term]
- Pustular rash [HPO term]
- Pustule [HPO term]
- Recurrent Staphylococcus aureus infections [HPO term]
- Recurrent bronchitis [HPO term]
- Recurrent cutaneous fungal infections [HPO term]
- Recurrent otitis media [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent sinusitis [HPO term]
- Recurrent skin infections [HPO term]
Not associated HPO term(s)
- Abnormal lymphocyte morphology [HPO term]
- Abnormal lymphocyte physiology [HPO term]
ORDO concept(s)
- Chronic mucocutaneous candidiasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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