Candidiasis, Familial, 6 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Blood diseases Immune diseases Skin diseases Neuronal diseases Reproductive diseases Oral diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁸ 613956

MeSH ⁴⁵ D002178

MedGen ⁴³ C3151405

SNOMED-CT via HPO ⁷⁰ 234568006 263681008

UMLS ⁷⁴ C3151405 C3279990

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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

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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	11.6

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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

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Drugs & Therapeutics for Candidiasis, Familial, 6

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

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Genetic Tests for Candidiasis, Familial, 6

Genetic tests related to Candidiasis, Familial, 6:

#	Genetic test	Affiliating Genes
1	Candidiasis, Familial, 6 ³⁰	IL17F

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Anatomical Context for Candidiasis, Familial, 6

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

⁴²

Skin

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Publications for Candidiasis, Familial, 6

Articles related to Candidiasis, Familial, 6:

#	Title	Authors	Year
1	Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. ( 21350122 )	Puel A...Casanova JL	2011

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Genes for Candidiasis, Familial, 6

Genes related to Candidiasis, Familial, 6 (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	IL17F	Interleukin 17F	Protein Coding	1377.99	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative variation ⁷⁶ Genetic Tests ³⁰ Unconfirmed association ⁵⁸ GeneCards inferred via : Disorders Variants (show sections)	21350122

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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	GRCh37	Chromosome 6, 52103560: 52103560
10	IL17F	NM_052872.3(IL17F): c.222C> T (p.Ile74=)	single nucleotide variant	Benign	rs6931727	GRCh38	Chromosome 6, 52238762: 52238762
11	IL17F	NM_052872.3(IL17F): c.413_414delCT (p.Ser138Cysfs)	deletion	Likely benign	rs11465552	GRCh38	Chromosome 6, 52237009: 52237010
12	IL17F	NM_052872.3(IL17F): c.413_414delCT (p.Ser138Cysfs)	deletion	Likely benign	rs11465552	GRCh37	Chromosome 6, 52101807: 52101808
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		GRCh38	Chromosome 6, 52238725: 52238725
16	IL17F	NM_052872.3(IL17F): c.254+5G> C	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 6, 52103523: 52103523
17	IL17F	NM_052872.3(IL17F): c.388G> A (p.Val130Ile)	single nucleotide variant	Uncertain significance		GRCh37	Chromosome 6, 52101833: 52101833
18	IL17F	NM_052872.3(IL17F): c.388G> A (p.Val130Ile)	single nucleotide variant	Uncertain significance		GRCh38	Chromosome 6, 52237035: 52237035
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

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Expression for Candidiasis, Familial, 6

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

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Pathways for Candidiasis, Familial, 6

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GO Terms for Candidiasis, Familial, 6

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⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Candidiasis, Familial, 6 (CANDF6)

Aliases & Classifications for Candidiasis, Familial, 6

MalaCards integrated aliases for Candidiasis, Familial, 6:

Characteristics:

HPO:

Classifications:

External Ids:

Summaries for Candidiasis, Familial, 6

Related Diseases for Candidiasis, Familial, 6

Diseases in the Candidiasis family:

Diseases related to Candidiasis, Familial, 6 via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Candidiasis, Familial, 6

Human phenotypes related to Candidiasis, Familial, 6:

Clinical features from OMIM:

Drugs & Therapeutics for Candidiasis, Familial, 6

Genetic Tests for Candidiasis, Familial, 6

Genetic tests related to Candidiasis, Familial, 6:

Anatomical Context for Candidiasis, Familial, 6

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

Publications for Candidiasis, Familial, 6

Articles related to Candidiasis, Familial, 6:

Genes for Candidiasis, Familial, 6

Genes related to Candidiasis, Familial, 6 (1 elite genes):

Variations for Candidiasis, Familial, 6

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

ClinVar genetic disease variations for Candidiasis, Familial, 6:

Expression for Candidiasis, Familial, 6

Pathways for Candidiasis, Familial, 6

GO Terms for Candidiasis, Familial, 6

Sources for Candidiasis, Familial, 6