MCID: CND036
MIFTS: 25

Candidiasis, Familial, 4

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

Aliases & Classifications for Candidiasis, Familial, 4

MalaCards integrated aliases for Candidiasis, Familial, 4:

Name: Candidiasis, Familial, 4 57 75
Familial Chronic Mucocutaneous Candidiasis 29 6 73
Candf4 57 75
Candidiasis, Familial, 4, Autosomal Recessive 57
Candidiasis, Familial Chronic Mucocutaneous 57
Candidiasis Familial Chronic Mucocutaneous 75
Chronic Mucocutaneous Candidiasis 4 75
Candidiasis, Familial, Type 4 40
Candidiasis, Familial, 2 73

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
candidiasis, familial, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613108
MedGen 42 C0341024
MeSH 44 D002178
SNOMED-CT via HPO 69 258211005 414941008

Summaries for Candidiasis, Familial, 4

UniProtKB/Swiss-Prot : 75 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). 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:

# Related Disease Score Top Affiliating Genes
1 candidiasis, familial, 6 11.5
2 candidiasis, familial, 2 11.4
3 immunodeficiency 31c 11.4
4 candidiasis, familial, 8 11.4
5 candidiasis, familial, 1 11.3
6 immunodeficiency 51 11.3
7 familial candidiasis 11.3
8 candidiasis 9.9
9 chronic mucocutaneous candidiasis 9.9

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



Diseases related to Candidiasis, Familial, 4

Symptoms & Phenotypes for Candidiasis, Familial, 4

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Female:
fulvar candidiasis

Skin Nails Hair Nails:
onychomycosis, chronic

Genitourinary Internal Genitalia Female:
vaginal candidiasis


Clinical features from OMIM:

613108

Human phenotypes related to Candidiasis, Familial, 4:

32
# Description HPO Frequency HPO Source Accession
1 onychomycosis 32 HP:0012203
2 recurrent vulvovaginal candidiasis 32 HP:0012204

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

Anatomical Context for Candidiasis, Familial, 4

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

41
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

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 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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