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

CANDF6 MCID: CND037 MIFTS: 29	Candidiasis, Familial, 6 (CANDF6) Categories: Blood diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

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Aliases & Classifications for Candidiasis, Familial, 6

MalaCards integrated aliases for Candidiasis, Familial, 6:

Name: Candidiasis, Familial, 6 ⁵⁶ ⁷³ ²⁹ ⁶ ⁷¹

Candidiasis, Familial, 6, Autosomal Dominant ⁵⁶ ²⁹ ¹³

Candf6 ⁵⁶ ⁷³

Autoimmune Enteropathy and Endocrinopathy-Susceptibility to Chronic Infections Syndrome ⁵²

Candidiasis, Familial Chronic Mucocutaneous, Autosomal Dominant ⁵⁶

Autosomal Dominant Candidiasis Familial Chronic Mucocutaneous ⁵²

Candidiasis Familial Chronic Mucocutaneous Autosomal Dominant ⁷³

Familial Chronic Mucocutaneous, Autosomal Dominant ⁵²

Chronic Mucocutaneous Candidiasis 6 ⁷³

Candidiasis, Familial, Type 6 ³⁹

Immunodeficiency 31c; Imd31c ⁵²

Candidiasis, Familial, 7 ⁷¹

Candidiasis Familial, 7 ⁵²

Candf7 ⁵²

Characteristics:

HPO:

³¹

candidiasis, familial, 6:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Infectious diseases
Anatomical: Gastrointestinal diseases Immune diseases Blood diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 613956

OMIM Phenotypic Series ⁵⁶ PS114580

MeSH ⁴³ D002178

MedGen ⁴¹ C3151405

UMLS ⁷¹ C3151405 C3279990

Sources

Summaries for Candidiasis, Familial, 6

NIH Rare Diseases : ⁵² The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 391487 Definition An extremely rare, autosomal dominant immunological disorder characterized by variable enteropathy, endocrine disorders (e.g. type 1 diabetes mellitus , hypothyroidism), immune dysregulation with pulmonary and blood-borne bacterial infections, and fungal infections (chronic mucocutaneous candidiasis) developing in infancy. Other manifestations include short stature , eczema, hepatosplenomegaly , delayed puberty, and osteoporosis /osteopenia. Visit the Orphanet disease page for more resources.

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, heart and thyroid, and related phenotypes are delayed skeletal maturation and short stature

UniProtKB/Swiss-Prot : ⁷³ 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.

More information from OMIM: 613956 PS114580

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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

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	11.8
2	candidiasis, familial, 1	11.7

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Symptoms & Phenotypes for Candidiasis, Familial, 6

Human phenotypes related to Candidiasis, Familial, 6:

³¹ (show all 39)

#	Description	HPO Frequency	HPO Source Accession
1	delayed skeletal maturation ³¹	hallmark (90%)	HP:0002750
2	short stature ³¹	hallmark (90%)	HP:0004322
3	recurrent upper respiratory tract infections ³¹	hallmark (90%)	HP:0002788
4	chronic mucocutaneous candidiasis ³¹	hallmark (90%)	HP:0002728
5	functional abnormality of the bladder ³¹	hallmark (90%)	HP:0000009
6	delayed puberty ³¹	frequent (33%)	HP:0000823
7	type i diabetes mellitus ³¹	frequent (33%)	HP:0100651
8	immunodeficiency ³¹	frequent (33%)	HP:0002721
9	osteopenia ³¹	frequent (33%)	HP:0000938
10	thyroiditis ³¹	frequent (33%)	HP:0100646
11	renovascular hypertension ³¹	frequent (33%)	HP:0100817
12	eczema ³¹	frequent (33%)	HP:0000964
13	diarrhea ³¹	frequent (33%)	HP:0002014
14	hepatosplenomegaly ³¹	frequent (33%)	HP:0001433
15	bronchiectasis ³¹	frequent (33%)	HP:0002110
16	renal artery stenosis ³¹	frequent (33%)	HP:0001920
17	autoimmune hemolytic anemia ³¹	frequent (33%)	HP:0001890
18	b lymphocytopenia ³¹	frequent (33%)	HP:0010976
19	dilatation of the cerebral artery ³¹	frequent (33%)	HP:0004944
20	primary hypothyroidism ³¹	frequent (33%)	HP:0000832
21	immune dysregulation ³¹	frequent (33%)	HP:0002958
22	enterocolitis ³¹	frequent (33%)	HP:0004387
23	recurrent herpes ³¹	frequent (33%)	HP:0005353
24	villous atrophy ³¹	frequent (33%)	HP:0011473
25	generalized osteoporosis ³¹	frequent (33%)	HP:0040160
26	carotid artery dilatation ³¹	frequent (33%)	HP:0012163
27	congestive heart failure ³¹	occasional (7.5%)	HP:0001635
28	hepatitis ³¹	occasional (7.5%)	HP:0012115
29	pulmonary arterial hypertension ³¹	occasional (7.5%)	HP:0002092
30	encephalitis ³¹	occasional (7.5%)	HP:0002383
31	antiphospholipid antibody positivity ³¹	occasional (7.5%)	HP:0003613
32	autoimmune thrombocytopenia ³¹	occasional (7.5%)	HP:0001973
33	esophageal carcinoma ³¹	occasional (7.5%)	HP:0011459
34	patent foramen ovale ³¹	occasional (7.5%)	HP:0001655
35	neutropenia in presence of anti-neutropil antibodies ³¹	occasional (7.5%)	HP:0001904
36	recurrent aspergillus infections ³¹	occasional (7.5%)	HP:0002724
37	medial calcification of large arteries ³¹	occasional (7.5%)	HP:0004966
38	oropharyngeal squamous cell carcinoma ³¹	occasional (7.5%)	HP:0012182
39	abnormal serum interferon-gamma level ³¹	occasional (7.5%)	HP:0030355

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 ²⁹	IL17F
2	Candidiasis, Familial, 6, Autosomal Dominant ²⁹

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Anatomical Context for Candidiasis, Familial, 6

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

⁴⁰

Skin, Heart, Thyroid

Sources

Publications for Candidiasis, Familial, 6

Articles related to Candidiasis, Familial, 6:

#	Title	Authors	PMID	Year
1	Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity. ⁵⁶ ⁶	Puel A...Casanova JL	21350122	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	1368.63	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ Genetic Tests ²⁹ Unconfirmed association ⁵⁶ GeneCards inferred via : Disorders Variants (show sections)	21350122

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Variations for Candidiasis, Familial, 6

ClinVar genetic disease variations for Candidiasis, Familial, 6:

⁶ (show all 34) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	GRCh37 Pos	GRCh38 Pos
1	IL17F	NM_052872.4(IL17F):c.284C>T (p.Ser95Leu)	SNV	Pathogenic	30589	rs748486078	6:52101937-52101937	6:52237139-52237139
2	IL17F	NM_052872.4(IL17F):c.254+1G>T	SNV	Conflicting interpretations of pathogenicity	225391	rs117796773	6:52103527-52103527	6:52238729-52238729
3	IL17F	NC_000006.12:g.(?_52236911)_(52244449_?)dup	duplication	Uncertain significance	833237		6:52101709-52109247
4	IL17F	NM_052872.4(IL17F):c.413C>G (p.Ser138Cys)	SNV	Uncertain significance	842739		6:52101808-52101808	6:52237010-52237010
5	IL17F	NM_052872.4(IL17F):c.392G>A (p.Arg131Gln)	SNV	Uncertain significance	852457		6:52101829-52101829	6:52237031-52237031
6	IL17F	NM_052872.4(IL17F):c.275G>A (p.Arg92Gln)	SNV	Uncertain significance	849867		6:52101946-52101946	6:52237148-52237148
7	IL17F	NM_052872.4(IL17F):c.91C>T (p.Arg31Trp)	SNV	Uncertain significance	859598		6:52103691-52103691	6:52238893-52238893
8	IL17F	NM_052872.4(IL17F):c.37A>G (p.Lys13Glu)	SNV	Uncertain significance	844625		6:52103745-52103745	6:52238947-52238947
9	IL17F	NM_052872.4(IL17F):c.456C>T (p.Cys152=)	SNV	Uncertain significance	910270		6:52101765-52101765	6:52236967-52236967
10	IL17F	NM_052872.4(IL17F):c.427T>C (p.Leu143=)	SNV	Uncertain significance	911489		6:52101794-52101794	6:52236996-52236996
11	IL17F	NM_052872.4(IL17F):c.200G>A (p.Arg67His)	SNV	Uncertain significance	908518		6:52103582-52103582	6:52238784-52238784
12	IL17F	NM_052872.4(IL17F):c.254+10A>G	SNV	Uncertain significance	911490		6:52103518-52103518	6:52238720-52238720
13	IL17F	NM_052872.4(IL17F):c.388G>A (p.Val130Ile)	SNV	Uncertain significance	569602	rs141798304	6:52101833-52101833	6:52237035-52237035
14	IL17F	NM_052872.4(IL17F):c.53C>T (p.Ser18Leu)	SNV	Uncertain significance	582871	rs145598353	6:52103729-52103729	6:52238931-52238931
15	IL17F	NM_052872.4(IL17F):c.391C>T (p.Arg131Trp)	SNV	Uncertain significance	660654		6:52101830-52101830	6:52237032-52237032
16	IL17F	NM_052872.4(IL17F):c.140G>T (p.Cys47Phe)	SNV	Uncertain significance	646441		6:52103642-52103642	6:52238844-52238844
17	IL17F	NM_052872.4(IL17F):c.123C>G (p.Phe41Leu)	SNV	Uncertain significance	648005		6:52103659-52103659	6:52238861-52238861
18	IL17F	NM_052872.4(IL17F):c.223G>A (p.Glu75Lys)	SNV	Uncertain significance	357472	rs373228601	6:52103559-52103559	6:52238761-52238761
19	IL17F	NM_052872.4(IL17F):c.469C>T (p.Pro157Ser)	SNV	Uncertain significance	357467	rs144576902	6:52101752-52101752	6:52236954-52236954
20	IL17F	NM_052872.4(IL17F):c.243C>G (p.Pro81=)	SNV	Uncertain significance	357471	rs769617558	6:52103539-52103539	6:52238741-52238741
21	IL17F	NM_052872.4(IL17F):c.-6C>T	SNV	Uncertain significance	357473	rs764936954	6:52109233-52109233	6:52244435-52244435
22	IL17F	NM_052872.4(IL17F):c.159T>C (p.Gly53=)	SNV	Likely benign	764082		6:52103623-52103623	6:52238825-52238825
23	IL17F	NM_052872.4(IL17F):c.411_412CT[1] (p.Ser138fs)	short repeat	Likely benign	539173	rs11465552	6:52101807-52101808	6:52237009-52237010
24	IL17F	NM_052872.4(IL17F):c.254+5G>C	SNV	Likely benign	575683	rs571390206	6:52103523-52103523	6:52238725-52238725
25	IL17F	NM_052872.4(IL17F):c.222C>T (p.Ile74=)	SNV	Benign	471811	rs6931727	6:52103560-52103560	6:52238762-52238762
26	IL17F	NM_052872.4(IL17F):c.254+1G>A	SNV	Benign	911491		6:52103527-52103527	6:52238729-52238729
27	IL17F	NM_052872.4(IL17F):c.*123C>T	SNV	Benign	357465	rs189630805	6:52101606-52101606	6:52236808-52236808
28	IL17F	NM_052872.4(IL17F):c.463G>A (p.Val155Ile)	SNV	Benign	357468	rs11465553	6:52101758-52101758	6:52236960-52236960
29	IL17F	NM_052872.4(IL17F):c.-48T>C	SNV	Benign	357474	rs140679432	6:52109275-52109275	6:52244477-52244477
30	IL17F	NM_052872.4(IL17F):c.*136A>G	SNV	Benign	357464	rs11465554	6:52101593-52101593	6:52236795-52236795
31	IL17F	NM_052872.4(IL17F):c.482A>G (p.His161Arg)	SNV	Benign	357466	rs763780	6:52101739-52101739	6:52236941-52236941
32	IL17F	NM_052872.4(IL17F):c.377A>G (p.Glu126Gly)	SNV	Benign	357469	rs2397084	6:52101844-52101844	6:52237046-52237046
33	IL17F	NM_052872.4(IL17F):c.*243T>G	SNV	Benign	357463	rs1953325	6:52101486-52101486	6:52236688-52236688
34	IL17F	NM_052872.4(IL17F):c.318C>T (p.Gly106=)	SNV	Benign	357470	rs148940532	6:52101903-52101903	6:52237105-52237105

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

⁷³

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

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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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Sources for Candidiasis, Familial, 6

¹ BioSystems

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¹⁶ DrugBank

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¹⁸ ExPASy

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

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³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MeSH

⁴⁴ MESH via Orphanet

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM

⁵⁷ OMIM via Orphanet

⁵⁸ Orphanet

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⁶¹ PubMed

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⁶⁴ R&D Systems

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ TGDB

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ 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

ClinVar genetic disease variations for Candidiasis, Familial, 6:

UniProtKB/Swiss-Prot 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