MCID: CND037
MIFTS: 19

Candidiasis, Familial, 6

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

Aliases & Classifications for Candidiasis, Familial, 6

MalaCards integrated aliases for Candidiasis, Familial, 6:

Name: Candidiasis, Familial, 6 57 75 29 6 73
Candidiasis, Familial, 6, Autosomal Dominant 57 13
Candf6 57 75
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant 57
Candidiasis Familial Chronic Mucocutaneous, Autosomal Dominant 53
Candidiasis Familial Chronic Mucocutaneous Autosomal Dominant 75
Familial Chronic Mucocutaneous, Autosomal Dominant 53
Chronic Mucocutaneous Candidiasis 6 75
Candidiasis, Familial, Type 6 40
Immunodeficiency 31c; Imd31c 53
Candidiasis, Familial, 7 73
Candidiasis Familial, 7 53
Candf7 53

Characteristics:

HPO:

32
candidiasis, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 613956
MedGen 42 C3151405
MeSH 44 D002178
SNOMED-CT via HPO 69 263681008 234568006

Summaries for Candidiasis, Familial, 6

UniProtKB/Swiss-Prot : 75 Candidiasis, familial, 6: 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, 6, also known as candidiasis, familial, 6, autosomal dominant, is related to immunodeficiency 31c and candidiasis, familial, 1. An important gene associated with Candidiasis, Familial, 6 is IL17F (Interleukin 17F). Affiliated tissues include skin, and related phenotype is chronic mucocutaneous candidiasis.

Description from OMIM: 613956

Related Diseases for Candidiasis, Familial, 6

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

# Related Disease Score Top Affiliating Genes
1 immunodeficiency 31c 11.5
2 candidiasis, familial, 1 11.4

Symptoms & Phenotypes for Candidiasis, Familial, 6

Clinical features from OMIM:

613956

Human phenotypes related to Candidiasis, Familial, 6:

32
# Description HPO Frequency HPO Source Accession
1 chronic mucocutaneous candidiasis 32 HP:0002728

Drugs & Therapeutics for Candidiasis, Familial, 6

Search Clinical Trials , NIH Clinical Center for Candidiasis, Familial, 6

Genetic Tests for Candidiasis, Familial, 6

Genetic tests related to Candidiasis, Familial, 6:

# Genetic test Affiliating Genes
1 Candidiasis, Familial, 6 29 IL17F

Anatomical Context for Candidiasis, Familial, 6

MalaCards organs/tissues related to Candidiasis, Familial, 6:

41
Skin

Publications for Candidiasis, Familial, 6

Variations for Candidiasis, Familial, 6

UniProtKB/Swiss-Prot genetic disease variations for Candidiasis, Familial, 6:

75
# Symbol AA change Variation ID SNP ID
1 IL17F p.Ser95Leu VAR_065813 rs748486078

ClinVar genetic disease variations for Candidiasis, Familial, 6:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 IL17F NM_052872.3(IL17F): c.284C> T (p.Ser95Leu) single nucleotide variant Pathogenic rs748486078 GRCh37 Chromosome 6, 52101937: 52101937
2 IL17F NM_052872.3(IL17F): c.284C> T (p.Ser95Leu) single nucleotide variant Pathogenic rs748486078 GRCh38 Chromosome 6, 52237139: 52237139
3 IL17F NM_052872.3(IL17F): c.254+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs117796773 GRCh37 Chromosome 6, 52103527: 52103527
4 IL17F NM_052872.3(IL17F): c.254+1G> T single nucleotide variant Conflicting interpretations of pathogenicity rs117796773 GRCh38 Chromosome 6, 52238729: 52238729
5 IL17F NM_052872.3(IL17F): c.463G> A (p.Val155Ile) single nucleotide variant Benign/Likely benign rs11465553 GRCh37 Chromosome 6, 52101758: 52101758
6 IL17F NM_052872.3(IL17F): c.463G> A (p.Val155Ile) single nucleotide variant Benign/Likely benign rs11465553 GRCh38 Chromosome 6, 52236960: 52236960
7 IL17F NM_052872.3(IL17F): c.318C> T (p.Gly106=) single nucleotide variant Benign/Likely benign rs148940532 GRCh37 Chromosome 6, 52101903: 52101903
8 IL17F NM_052872.3(IL17F): c.318C> T (p.Gly106=) single nucleotide variant Benign/Likely benign rs148940532 GRCh38 Chromosome 6, 52237105: 52237105
9 IL17F NM_052872.3(IL17F): c.222C> T (p.Ile74=) single nucleotide variant Benign rs6931727 GRCh38 Chromosome 6, 52238762: 52238762
10 IL17F NM_052872.3(IL17F): c.222C> T (p.Ile74=) single nucleotide variant Benign rs6931727 GRCh37 Chromosome 6, 52103560: 52103560
11 IL17F NM_052872.3(IL17F): c.413_414delCT (p.Ser138Cysfs) deletion Likely benign GRCh38 Chromosome 6, 52237009: 52237010
12 IL17F NM_052872.3(IL17F): c.413_414delCT (p.Ser138Cysfs) deletion Likely benign GRCh37 Chromosome 6, 52101807: 52101808
13 IL17F NM_052872.3(IL17F): c.177T> C (p.Ile59=) single nucleotide variant Likely benign GRCh37 Chromosome 6, 52103605: 52103605
14 IL17F NM_052872.3(IL17F): c.177T> C (p.Ile59=) single nucleotide variant Likely benign GRCh38 Chromosome 6, 52238807: 52238807

Expression for Candidiasis, Familial, 6

Search GEO for disease gene expression data for Candidiasis, Familial, 6.

Pathways for Candidiasis, Familial, 6

GO Terms for Candidiasis, Familial, 6

Sources for Candidiasis, Familial, 6

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
Content
Loading form....