CANDIDIASIS, FAMILIAL, 8

General Information (adopted from Orphanet):

Synonyms, Signs: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL RECESSIVE
CANDF8
Number of Symptoms 9
OrphanetNr:
OMIM Id: 615527
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:0000498) Blepharitis 27 / 7739
2
(HPO:0000158) Macroglossia 119 / 7739
3
(HPO:0012203) Onychomycosis 3 / 7739
4
(OMIM) Folliculitis decalvans 1 / 7739
5
(OMIM) Seborrheic dermatitis in infancy 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
7
(OMIM) Immunologic evaluation unremarkable 1 / 7739
8
(MedDRA:10030963) Oral candidiasis 4 / 7739
9
(OMIM) Macrocheilitis 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chronic mucocutaneous candidiasis is characterized by recurrent or persistent infections of the skin, nails, and oral and genital mucosae with Candida albicans, and sometimes by staphylococcal skin infections (summary by Boisson et al., 2013).

For a ...

Clinical Description OMIM Boisson et al. (2013) reported a brother and sister, born to consanguineous Algerian parents, with chronic mucocutaneous candidiasis. The 30-year-old brother developed macrocheilitis associated with progressive chronic macroglossia at age 8 years, and had recurrent oral candidiasis involving ...
Molecular genetics OMIM In a consanguineous Algerian family in which a brother and sister had chronic mucocutaneous candidiasis, Boisson et al. (2013) performed homozygosity mapping in 2 affected and 2 unaffected sibs, as well as exome sequencing of the affected brother, ...