CMCT
MCID: CND033
MIFTS: 21

Candidiasis, Familial, 1 (CMCT)

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

Aliases & Classifications for Candidiasis, Familial, 1

MalaCards integrated aliases for Candidiasis, Familial, 1:

Name: Candidiasis, Familial, 1 58 13 74
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant, with or Without Thyroid Disease 58
Candidiasis, Familial, 1, Autosomal Dominant 58
Candf1 58
Cmct 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
candidiasis, familial, 1:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 114580
MedGen 43 C2751429
UMLS 74 C2751429

Summaries for Candidiasis, Familial, 1

OMIM : 58 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 alopecia and abnormality of the endocrine system

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 11.3
2 candidiasis, familial, 8 11.2
3 familial candidiasis 11.1

Symptoms & Phenotypes for Candidiasis, Familial, 1

Human phenotypes related to Candidiasis, Familial, 1:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 alopecia 33 HP:0001596
2 abnormality of the endocrine system 33 HP:0000818
3 recurrent viral infections 33 HP:0004429
4 chronic mucocutaneous candidiasis 33 HP:0002728
5 premature loss of teeth 33 HP:0006480
6 cutaneous anergy 33 HP:0002965

Symptoms via clinical synopsis from OMIM:

58
Hair:
alopecia

Skin:
dermatophytosis

Endocrine:
no associated endocrinopathy

Immunology:
recurrent viral infections
chronic mucocutaneous candidiasis
cutaneous anergy

Teeth:
teeth loss

Clinical features from OMIM:

114580

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:

42
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 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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