CANDIDIASIS, FAMILIAL, 1

General Information (adopted from Orphanet):

Synonyms, Signs: CANDIDIASIS, FAMILIAL CHRONIC MUCOCUTANEOUS, AUTOSOMAL DOMINANT, WITH OR WITHOUT THYROID DISEASE
CANDF1
CMCT
Number of Symptoms 7
OrphanetNr:
OMIM Id: 114580
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant 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 14 / 7739
2
(HPO:0001596) Alopecia 162 / 7739
3
(HPO:0002965) Cutaneous anergy 7 / 7739
4
(HPO:0004429) Recurrent viral infections 20 / 7739
5
(MedDRA:10044044) Tooth loss 6 / 7739
6
(MedDRA:10012504) Dermatophytosis 1 / 7739
7
(OMIM) No associated endocrinopathy 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Chronic mucocutaneous candidiasis (CMC) includes a group of rare disorders with altered immune responses, selective against Candida, characterized by persistent and/or recurrent infections of the skin, nails, and mucous membranes, caused by organisms of the genus Candida, mainly ...
Clinical Description OMIM In a family reported by Canales et al. (1969), an 11-year-old boy, his sister, and her daughter had chronic cutaneous candidiasis.

Familial occurrence of CMC was reported by Wells et al. (1972), who described both males ...