CANDIDIASIS, FAMILIAL, 4

General Information (adopted from Orphanet):

Synonyms, Signs: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS
CANDF4
Number of Symptoms 6
OrphanetNr:
OMIM Id: 613108
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:0012204) Recurrent vulvovaginal candidiasis 19864674 IBIS 1 / 7739
2
(HPO:0012203) Onychomycosis 19864674 IBIS 3 / 7739
3
(OMIM) Fulvar candidiasis 1 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Onychomycosis, chronic 1 / 7739
6
(OMIM) Vaginal candidiasis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Ferwerda et al. (2009) studied a nonconsanguineous Caucasian family of Dutch ancestry in which 2 sisters had recurrent vulvovaginal candidiasis and onychomycosis. Another sister and their mother also had chronic onychomycosis, whereas their father had only transient onychomycosis, ...
Molecular genetics OMIM In a family with chronic mucocutaneous candidiasis, Ferwerda et al. (2009) identified homozygosity for a change (dbSNP rs16910526) in the CLEC7A gene, resulting in a nonsense mutation (Y238X; 606264.0001) in the gene product, in 3 sisters with recurrent ...