CANDIDIASIS, FAMILIAL, 5

General Information (adopted from Orphanet):

Synonyms, Signs: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE
CANDF5
Number of Symptoms 2
OrphanetNr:
OMIM Id: 613953
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002728) Chronic mucocutaneous candidiasis 21350122 IBIS 14 / 7739
2
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Puel et al. (2011) investigated a French child born to first-cousin parents of Moroccan descent who presented with Candida albicans dermatitis during the neonatal period and displayed Staphylococcus aureus dermatitis at 5 months of age. Known causes of ...
Molecular genetics OMIM Puel et al. (2011) found that a French child of Moroccan descent with CMCD was homozygous for a nonsense mutation in the IL17RA gene (605461.0001). Consistent with autosomal recessive inheritance, parents and sibs were heterozygous for this mutation. ...