Candidiasis, familial, 6

Summary

Candidiasis, familial, 6 (MONDO:0013503) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 164

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	candidiasis, familial, 6
Mondo ID	MONDO:0013503
OMIM	613956
UMLS	C3151405
MedGen	462755
GARD	0015093
Is cancer (heuristic)	no

Also known as: CANDF6 · candidiasis, familial, 6 · candidiasis, familial, 6, autosomal dominant · candidiasis, familial, type 6 · familial chronic mucocutaneous candidiasis caused by mutation in IL17F · IL17F familial chronic mucocutaneous candidiasis

Data availability: 164 ClinVar variants · 2 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › immune system disorder › inborn error of immunity › chronic mucocutaneous candidiasis › candidiasis, familial, 6

Related subtypes (11): candidiasis, familial, 1, chronic mucocutaneous candidiasis due to inhibition of lymphoblastic transformation, chronic mucocutaneous candidiasis due to intrinsic defect in lymphoblastic transformation, chronic mucocutaneous candidiasis due to lymphokine deficiency, chronic mucocutaneous candidiasis due to monocyte chemotactic disorder, candidiasis, familial, 3, candidiasis, familial, 4, immunodeficiency 51, autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome, candidiasis, familial, 8, candidiasis, familial, 9

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

ClinVar germline variants

164 retrieved; paginated sample, class counts are floors:

96 uncertain significance, 48 likely benign, 11 conflicting classifications of pathogenicity, 9 benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
2084727	NM_052872.4(IL17F):c.202G>A (p.Val68Ile)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
225391	NM_052872.4(IL17F):c.254+1G>T	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
357471	NM_052872.4(IL17F):c.243C>G (p.Pro81=)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
539173	NM_052872.4(IL17F):c.413_414del (p.Ser138fs)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
569602	NM_052872.4(IL17F):c.388G>A (p.Val130Ile)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
582871	NM_052872.4(IL17F):c.53C>T (p.Ser18Leu)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
910270	NM_052872.4(IL17F):c.456C>T (p.Cys152=)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
911489	NM_052872.4(IL17F):c.427T>C (p.Leu143=)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
911491	NM_052872.4(IL17F):c.254+1G>A	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
948947	NM_052872.4(IL17F):c.215G>A (p.Arg72His)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
969832	NM_052872.4(IL17F):c.83C>T (p.Ala28Val)	IL17F	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1019128	NM_052872.4(IL17F):c.458C>T (p.Thr153Ile)	IL17F	Uncertain significance	criteria provided, single submitter
1026711	NM_052872.4(IL17F):c.469C>G (p.Pro157Ala)	IL17F	Uncertain significance	criteria provided, single submitter
1036014	NM_052872.4(IL17F):c.437T>G (p.Val146Gly)	IL17F	Uncertain significance	criteria provided, single submitter
1037376	NM_052872.4(IL17F):c.388G>T (p.Val130Phe)	IL17F	Uncertain significance	criteria provided, single submitter
1038581	NM_052872.4(IL17F):c.374A>G (p.Gln125Arg)	IL17F	Uncertain significance	criteria provided, single submitter
1041022	NM_052872.4(IL17F):c.361G>A (p.Val121Ile)	IL17F	Uncertain significance	criteria provided, single submitter
1054848	NM_052872.4(IL17F):c.308G>A (p.Arg103Lys)	IL17F	Uncertain significance	criteria provided, single submitter
1349086	NM_052872.4(IL17F):c.99C>G (p.Ile33Met)	IL17F	Uncertain significance	criteria provided, single submitter
1360600	NM_052872.4(IL17F):c.104A>G (p.Lys35Arg)	IL17F	Uncertain significance	criteria provided, multiple submitters, no conflicts
1361986	NM_052872.4(IL17F):c.214C>T (p.Arg72Cys)	IL17F	Uncertain significance	criteria provided, multiple submitters, no conflicts
1378990	NM_052872.4(IL17F):c.33+5G>A	IL17F	Uncertain significance	criteria provided, single submitter
1386735	NM_052872.4(IL17F):c.208A>G (p.Met70Val)	IL17F	Uncertain significance	criteria provided, single submitter
1404531	NM_052872.4(IL17F):c.350C>A (p.Ser117Tyr)	IL17F	Uncertain significance	criteria provided, multiple submitters, no conflicts
1407458	NM_052872.4(IL17F):c.345C>A (p.Asp115Glu)	IL17F	Uncertain significance	criteria provided, multiple submitters, no conflicts
1409494	NM_052872.4(IL17F):c.230G>A (p.Arg77His)	IL17F	Uncertain significance	criteria provided, single submitter
1412057	NM_052872.4(IL17F):c.3G>C (p.Met1Ile)	IL17F	Uncertain significance	criteria provided, multiple submitters, no conflicts
1412361	NM_052872.4(IL17F):c.115A>G (p.Thr39Ala)	IL17F	Uncertain significance	criteria provided, single submitter
1434850	NM_052872.4(IL17F):c.12G>C (p.Lys4Asn)	IL17F	Uncertain significance	criteria provided, single submitter
1438899	NM_052872.4(IL17F):c.84_85delinsTT (p.Ala29Ser)	IL17F	Uncertain significance	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · Orphanet: 1 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0

GenCC gene–disease validity (cohort genes)

the Disease column is the GenCC-asserted condition — a cohort gene’s strongest validity may be for a related predisposition syndrome.

Gene	Classification	Inheritance	Disease	Records
IL17F	Supportive	Autosomal dominant	chronic mucocutaneous candidiasis	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
IL17F	Orphanet:1334	Chronic mucocutaneous candidiasis

Cohort genes → proteins

1 cohort genes, 1 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	1

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
IL17F	HGNC:16404	ENSG00000112116	Q96PD4	Interleukin-17F	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
IL17F	Interleukin-17F	Effector cytokine of innate and adaptive immune system involved in antimicrobial host defense and maintenance of tissue integrity.

Protein-family classification

Druggable: 0 · Difficult: 0 · Unknown: 1 · Druggable fraction: 0.0

Family distribution

Cohort families vs a genome-wide background (hypergeometric, BH-FDR; fold = observed/expected). Counts kept; sorted by enrichment, so the catch-all Other/Unknown bucket no longer leads.

Family	Genes	Fold	FDR
Other/Unknown	1	1.8×	0.558

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
IL17F	Other/Unknown	no		IL-17_fam, IL-17_chr, Cystine-knot_cytokine

Expression context

Cohort genes with no expression data: 0.

Breadth distribution (Bgee present_calls)

Bucket	Genes
narrow (1-5 tissues)	0
moderate (6-20)	0
broad (>20)	1
unknown	0

Top tissues across cohort

Tissue	Cohort genes
endothelial cell	1
male germ line stem cell (sensu Vertebrata) in testis	1
primordial germ cell in gonad	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
IL17F	43		yes	male germ line stem cell (sensu Vertebrata) in testis, primordial germ cell in gonad, endothelial cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
IL17F	1,523

Structural data

PDB: 1 · AlphaFold-only: 0 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
IL17F	Q96PD4	9

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 3. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Interleukin-17 signaling	1	253.8×	0.011	IL17F
Interleukin-4 and Interleukin-13 signaling	1	102.9×	0.011	IL17F
SARS-CoV-2 activates/modulates innate and adaptive immune responses	1	89.2×	0.011	IL17F

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 1 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
regulation of granulocyte macrophage colony-stimulating factor production	1	16852.0×	8e-04	IL17F
positive regulation of antimicrobial peptide production	1	8426.0×	8e-04	IL17F
regulation of interleukin-2 production	1	8426.0×	8e-04	IL17F
positive regulation of lymphotoxin A production	1	5617.3×	9e-04	IL17F
regulation of interleukin-8 production	1	4213.0×	9e-04	IL17F
positive regulation of chemokine (C-X-C motif) ligand 1 production	1	2808.7×	0.001	IL17F
regulation of interleukin-6 production	1	1685.2×	0.001	IL17F
interleukin-17-mediated signaling pathway	1	1685.2×	0.001	IL17F
regulation of transforming growth factor beta receptor signaling pathway	1	802.5×	0.003	IL17F
positive regulation of cytokine production involved in inflammatory response	1	543.6×	0.004	IL17F
positive regulation of cytokine production	1	271.8×	0.007	IL17F
cartilage development	1	251.5×	0.007	IL17F
negative regulation of angiogenesis	1	168.5×	0.008	IL17F
defense response to Gram-negative bacterium	1	168.5×	0.008	IL17F
positive regulation of interleukin-6 production	1	166.8×	0.008	IL17F
defense response to Gram-positive bacterium	1	127.7×	0.010	IL17F
adaptive immune response	1	84.3×	0.014	IL17F
inflammatory response	1	37.7×	0.029	IL17F
innate immune response	1	33.6×	0.031	IL17F
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	IL17F

Therapeutics

Drug target analysis

Approved (phase 4): 0 · Phase ≥3: 0 · Phased (≥1): 0 · Undrugged: 1

Druggability breadth: 1 of 1 evidence-associated genes (100%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
IL17F	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
IL17F	2	Binding:2

Pharmacogenomics

Cohort genes with a PharmGKB record: 1; with CPIC/DPWG dosing guidelines: 0.

No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).

Chemical tractability of cohort targets

0 approved/phased compounds have measured bioactivity against a cohort gene (and aren’t yet in disease-level trials). This is a research / tractability signal, NOT a therapeutic recommendation — a bioactivity row often reflects off-target or screening binding (e.g. promiscuous kinase inhibitors against a cohort kinase), implying no disease mechanism.

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	0
B	Phased (≥1) drug, not yet approved	0
C	Druggable family + PDB, no drug	0
D	Druggable family + AlphaFold only, no drug	0
E	Difficult family or no structure, no drug	1	IL17F

Undrugged target profiles

1 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).

Symbol	ChEMBL assays	Drugged partners (top 3)
IL17F	2	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.