CMCT
MCID: CND033
MIFTS: 21

Candidiasis, Familial, 1 (CMCT)

Categories: Genetic diseases, Rare diseases, Blood diseases, Skin diseases, Immune diseases, Infectious diseases

Aliases & Classifications for Candidiasis, Familial, 1

MalaCards integrated aliases for Candidiasis, Familial, 1:

Name: Candidiasis, Familial, 1 57 13 73
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, with or Without Thyroid Disease 57
Candidiasis, Familial, 1, Autosomal Dominant 57
Candf1 57
Cmct 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
candidiasis, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 114580
MedGen 42 C2751429
UMLS 73 C2751429

Summaries for Candidiasis, Familial, 1

OMIM : 57 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. (114580)

MalaCards based summary : Candidiasis, Familial, 1, also known as candidiasis, familial chronic mucocutaneous, autosomal dominant, with or without thyroid disease, is related to candidiasis and candidiasis, familial, 8. An important gene associated with Candidiasis, Familial, 1 is CANDF1 (Candidiasis, Familial 1). Affiliated tissues include skin and thyroid, and related phenotypes are abnormality of the endocrine system and alopecia

Related Diseases for Candidiasis, Familial, 1

Diseases in the Candidiasis family:

Candidiasis, Familial, 1 Candidiasis, Familial, 2
Candidiasis, Familial, 3 Candidiasis, Familial, 4
Candidiasis, Familial, 6 Candidiasis, Familial, 8
Candidiasis, Familial, 9 Familial Candidiasis

Diseases related to Candidiasis, Familial, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 candidiasis 11.1
2 candidiasis, familial, 8 11.0
3 familial candidiasis 10.9

Symptoms & Phenotypes for Candidiasis, Familial, 1

Symptoms via clinical synopsis from OMIM:

57
Immunology:
chronic mucocutaneous candidiasis
recurrent viral infections
cutaneous anergy

Hair:
alopecia

Endocrine:
no associated endocrinopathy

Skin:
dermatophytosis

Teeth:
teeth loss


Clinical features from OMIM:

114580

Human phenotypes related to Candidiasis, Familial, 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 abnormality of the endocrine system 32 HP:0000818
2 alopecia 32 HP:0001596
3 chronic mucocutaneous candidiasis 32 HP:0002728
4 cutaneous anergy 32 HP:0002965
5 recurrent viral infections 32 HP:0004429
6 premature loss of teeth 32 HP:0006480

Drugs & Therapeutics for Candidiasis, Familial, 1

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 1

Genetic Tests for Candidiasis, Familial, 1

Anatomical Context for Candidiasis, Familial, 1

MalaCards organs/tissues related to Candidiasis, Familial, 1:

41
Skin, Thyroid

Publications for Candidiasis, Familial, 1

Variations for Candidiasis, Familial, 1

Expression for Candidiasis, Familial, 1

Search GEO for disease gene expression data for Candidiasis, Familial, 1.

Pathways for Candidiasis, Familial, 1

GO Terms for Candidiasis, Familial, 1

Sources for Candidiasis, Familial, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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