Candidiasis, familial, 1

Preferred Label : Candidiasis, familial, 1;

Symbol : CANDF1;

CISMeF acronym : CANDF1; CMCT;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : CMCT; Candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease;

Description : 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 Candida albicans (Zuccarello et al., 2002). Isolated familial chronic mucocutaneous candidiasis is distinct from candidiasis with endocrinopathy (240300). In myeloperoxidase deficiency (254600), susceptibility to candidiasis may be increased. - Genetic Heterogeneity of Candidiasis Familial candidiasis-1 (CANDF1) maps to chromosome 2p. CANDF2 (212050) is caused by mutation in the CARD9 gene (607212) on chromosome 9q34.3.;

Inheritance : Autosomal dominant;

Prefixed ID : %114580;

Details

Origin ID

114580;

UMLS CUI

C2751429;

Automatic exact mappings (from CISMeF team)
- 1-cyclohexyl-3-(2-(4-morpholinyl)ethyl)carbodiimide [MeSH Supplementary Concept]
- 1-cyclohexyl-3-(2-(4-morpholinyl)ethyl)carbodiimide tosylate [MeSH concept]
Broader ORDO disease(s)
- Chronic mucocutaneous candidiasis [ORDO Disease]
Currated CISMeF NLP mapping
- candidiasis, familial, 1 [MeSH concept]
- candidiasis, familial, 1 [MeSH Supplementary Concept]
DO Cross reference
- chronic mucocutaneous candidiasis [DO Concept]
HPO term(s)
- Abnormality of the endocrine system [HPO term]
- Alopecia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Chronic mucocutaneous candidiasis [HPO term]
- Cutaneous anergy [HPO term]
- Premature loss of teeth [HPO term]
- Recurrent viral infections [HPO term]
ORDO concept(s)
- Chronic mucocutaneous candidiasis [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- candidiasis, familial, 1 [MeSH Supplementary Concept]
- candidiasis, familial, 1 [MeSH concept]

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