CANDF6
MCID: CND037
MIFTS: 19

Candidiasis, Familial, 6 (CANDF6)

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

Aliases & Classifications for Candidiasis, Familial, 6

MalaCards integrated aliases for Candidiasis, Familial, 6:

Name: Candidiasis, Familial, 6 58 76 30 6 74
Candidiasis, Familial, 6, Autosomal Dominant 58 13
Candf6 58 76
Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant 58
Candidiasis Familial Chronic Mucocutaneous, Autosomal Dominant 54
Candidiasis Familial Chronic Mucocutaneous Autosomal Dominant 76
Familial Chronic Mucocutaneous, Autosomal Dominant 54
Chronic Mucocutaneous Candidiasis 6 76
Candidiasis, Familial, Type 6 41
Immunodeficiency 31c; Imd31c 54
Candidiasis, Familial, 7 74
Candidiasis Familial, 7 54
Candf7 54

Characteristics:

HPO:

33
candidiasis, familial, 6:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 613956
MeSH 45 D002178
MedGen 43 C3151405
SNOMED-CT via HPO 70 234568006 263681008

Summaries for Candidiasis, Familial, 6

UniProtKB/Swiss-Prot : 76 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 11.7
2 candidiasis, familial, 1 11.5

Symptoms & Phenotypes for Candidiasis, Familial, 6

Human phenotypes related to Candidiasis, Familial, 6:

33
# Description HPO Frequency HPO Source Accession
1 chronic mucocutaneous candidiasis 33 HP:0002728

Clinical features from OMIM:

613956

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 30 IL17F

Anatomical Context for Candidiasis, Familial, 6

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

42
Skin

Publications for Candidiasis, Familial, 6

Variations for Candidiasis, Familial, 6

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

76
# 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 20)
# 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 rs11465552 GRCh37 Chromosome 6, 52101807: 52101808
12 IL17F NM_052872.3(IL17F): c.413_414delCT (p.Ser138Cysfs) deletion Likely benign rs11465552 GRCh38 Chromosome 6, 52237009: 52237010
13 IL17F NM_052872.3(IL17F): c.177T> C (p.Ile59=) single nucleotide variant Likely benign rs1433771627 GRCh37 Chromosome 6, 52103605: 52103605
14 IL17F NM_052872.3(IL17F): c.177T> C (p.Ile59=) single nucleotide variant Likely benign rs1433771627 GRCh38 Chromosome 6, 52238807: 52238807
15 IL17F NM_052872.3(IL17F): c.254+5G> C single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 52103523: 52103523
16 IL17F NM_052872.3(IL17F): c.254+5G> C single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 52238725: 52238725
17 IL17F NM_052872.3(IL17F): c.388G> A (p.Val130Ile) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 52237035: 52237035
18 IL17F NM_052872.3(IL17F): c.388G> A (p.Val130Ile) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 52101833: 52101833
19 IL17F NM_052872.3(IL17F): c.53C> T (p.Ser18Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 6, 52103729: 52103729
20 IL17F NM_052872.3(IL17F): c.53C> T (p.Ser18Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 6, 52238931: 52238931

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

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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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