CANDF4
MCID: CND036
MIFTS: 25

Candidiasis, Familial, 4 (CANDF4)

Categories: Blood diseases, Gastrointestinal 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 57 72
Familial Chronic Mucocutaneous Candidiasis 29 6 70
Candidiasis, Familial, 4, Autosomal Recessive 57 29
Candf4 57 72
Candidiasis, Familial Chronic Mucocutaneous 57
Candidiasis Familial Chronic Mucocutaneous 72
Chronic Mucocutaneous Candidiasis 4 72
Candidiasis, Familial, Type 4 39
Candidiasis, Familial, 2 70

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
candidiasis, familial, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 613108
OMIM Phenotypic Series 57 PS114580
MeSH 44 D002178
MedGen 41 C0341024
SNOMED-CT via HPO 68 258211005 414941008
UMLS 70 C0341024 C1859353

Summaries for Candidiasis, Familial, 4

UniProtKB/Swiss-Prot : 72 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, 6 and candidiasis, familial, 2. An important gene associated with Candidiasis, Familial, 4 is CLEC7A (C-Type Lectin Domain Containing 7A). Related phenotypes are onychomycosis and recurrent vulvovaginal candidiasis

More information from OMIM: 613108 PS114580

Related Diseases for Candidiasis, Familial, 4

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:

31
# Description HPO Frequency HPO Source Accession
1 onychomycosis 31 HP:0012203
2 recurrent vulvovaginal candidiasis 31 HP:0012204

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 CLEC7A
2 Candidiasis, Familial, 4, Autosomal Recessive 29

Anatomical Context for Candidiasis, Familial, 4

Publications for Candidiasis, Familial, 4

Articles related to Candidiasis, Familial, 4:

# Title Authors PMID Year
1
Human dectin-1 deficiency and mucocutaneous fungal infections. 57 6
19864674 2009
2
Dectin-1 Y238X polymorphism associates with susceptibility to invasive aspergillosis in hematopoietic transplantation through impairment of both recipient- and donor-dependent mechanisms of antifungal immunity. 6
20807886 2010
3
Autosomal dominant familial chronic mucocutaneous candidiasis associated with acne rosacea. 61
16284681 2005
4
Fungal intracranial aneurysm in a child with familial chronic mucocutaneous candidiasis. 61
10445344 1999
5
[Familial chronic mucocutaneous candidiasis associated with autoimmune polyendocrinopathy. Treatment with fluconazole: 3 cases]. 61
10095896 1999
6
Case report: familial chronic mucocutaneous candidiasis complicated by deep candida infection. 61
8160723 1994
7
[Familial chronic mucocutaneous candidiasis. Study of 2 families]. 61
6330471 1984
8
Familial chronic mucocutaneous candidiasis successfully treated with oral ketoconazole. 61
6256921 1981

Variations for Candidiasis, Familial, 4

ClinVar genetic disease variations for Candidiasis, Familial, 4:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CLEC7A NM_197947.3(CLEC7A):c.493-2A>G SNV Pathogenic 1032590 GRCh37: 12:10275964-10275964
GRCh38: 12:10123365-10123365
2 CLEC7A NM_197947.3(CLEC7A):c.536T>C (p.Phe179Ser) SNV Uncertain significance 1028772 GRCh37: 12:10275919-10275919
GRCh38: 12:10123320-10123320
3 CLEC7A NM_197947.3(CLEC7A):c.414A>G (p.Leu138=) SNV Uncertain significance 626087 rs143893294 GRCh37: 12:10277974-10277974
GRCh38: 12:10125375-10125375
4 CLEC7A NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) SNV Benign 4466 rs16910526 GRCh37: 12:10271087-10271087
GRCh38: 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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