CANDF4
MCID: CND036
MIFTS: 25

Candidiasis, Familial, 4 (CANDF4)

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

Aliases & Classifications for Candidiasis, Familial, 4

MalaCards integrated aliases for Candidiasis, Familial, 4:

Name: Candidiasis, Familial, 4 58 76
Familial Chronic Mucocutaneous Candidiasis 30 6 74
Candf4 58 76
Candidiasis, Familial, 4, Autosomal Recessive 58
Candidiasis, Familial Chronic Mucocutaneous 58
Candidiasis Familial Chronic Mucocutaneous 76
Chronic Mucocutaneous Candidiasis 4 76
Candidiasis, Familial, Type 4 41
Candidiasis, Familial, 2 74

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
candidiasis, familial, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613108
MeSH 45 D002178
MedGen 43 C0341024
SNOMED-CT via HPO 70 258211005 414941008

Summaries for Candidiasis, Familial, 4

UniProtKB/Swiss-Prot : 76 Candidiasis, familial, 4: A primary immunodeficiency disorder with altered immune responses and impaired clearance of fungal infections, selective against Candida. It is characterized by persistent and/or recurrent infections of the skin, nails and mucous membranes caused by organisms of the genus Candida, mainly Candida albicans.

MalaCards based summary : Candidiasis, Familial, 4, also known as familial chronic mucocutaneous candidiasis, is related to candidiasis, familial, 2 and candidiasis, familial, 6. An important gene associated with Candidiasis, Familial, 4 is CLEC7A (C-Type Lectin Domain Containing 7A). Affiliated tissues include skin, and related phenotypes are onychomycosis and recurrent vulvovaginal candidiasis

Description from OMIM: 613108

Related Diseases for Candidiasis, Familial, 4

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, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 2 11.7
2 candidiasis, familial, 6 11.7
3 immunodeficiency 31c 11.6
4 candidiasis, familial, 8 11.6
5 candidiasis, familial, 1 11.4
6 immunodeficiency 51 11.4
7 familial candidiasis 11.4
8 intracranial aneurysm 10.0
9 rosacea 10.0
10 candidiasis 10.0
11 chronic mucocutaneous candidiasis 10.0

Graphical network of the top 20 diseases related to Candidiasis, Familial, 4:



Diseases related to Candidiasis, Familial, 4

Symptoms & Phenotypes for Candidiasis, Familial, 4

Human phenotypes related to Candidiasis, Familial, 4:

33
# Description HPO Frequency HPO Source Accession
1 onychomycosis 33 HP:0012203
2 recurrent vulvovaginal candidiasis 33 HP:0012204

Symptoms via clinical synopsis from OMIM:

58
Immunology:
recurrent fungal infections

Genitourinary Internal Genitalia Female:
vaginal candidiasis

Genitourinary External Genitalia Female:
vulvar candidiasis

Skin Nails Hair Nails:
onychomycosis, chronic

Clinical features from OMIM:

613108

Drugs & Therapeutics for Candidiasis, Familial, 4

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 4

Genetic Tests for Candidiasis, Familial, 4

Genetic tests related to Candidiasis, Familial, 4:

# Genetic test Affiliating Genes
1 Familial Chronic Mucocutaneous Candidiasis 30 CLEC7A

Anatomical Context for Candidiasis, Familial, 4

MalaCards organs/tissues related to Candidiasis, Familial, 4:

42
Skin

Publications for Candidiasis, Familial, 4

Articles related to Candidiasis, Familial, 4:

# Title Authors Year
1
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea. ( 16284681 )
2005
2
Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis. ( 10445344 )
1999
3
Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection. ( 8160723 )
1994
4
[Familial chronic mucocutaneous candidiasis. Study of 2 families]. ( 6330471 )
1984
5
Familial chronic mucocutaneous candidiasis successfully treated with oral ketoconazole. ( 6256921 )
1981

Variations for Candidiasis, Familial, 4

ClinVar genetic disease variations for Candidiasis, Familial, 4:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CLEC7A NM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter) single nucleotide variant Benign rs16910526 GRCh37 Chromosome 12, 10271087: 10271087
2 CLEC7A NM_197947.2(CLEC7A): c.714T> G (p.Tyr238Ter) single nucleotide variant Benign rs16910526 GRCh38 Chromosome 12, 10118488: 10118488

Expression for Candidiasis, Familial, 4

Search GEO for disease gene expression data for Candidiasis, Familial, 4.

Pathways for Candidiasis, Familial, 4

GO Terms for Candidiasis, Familial, 4

Sources for Candidiasis, Familial, 4

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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