Candidiasis, familial, 4

Summary

Candidiasis, familial, 4 (MONDO:0013140) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 5

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	candidiasis, familial, 4
Mondo ID	MONDO:0013140
OMIM	613108
SNOMED CT	235073000
UMLS	C0341024
MedGen	90958
GARD	0015617
Is cancer (heuristic)	no

Also known as: CANDF4 · candidiasis, familial, 4 · candidiasis, familial, 4, autosomal recessive · candidiasis, familial, type 4 · CLEC7A familial chronic mucocutaneous candidiasis · familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A

Data availability: 5 ClinVar variants.

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, 4

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, immunodeficiency 51, candidiasis, familial, 6, 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

5 retrieved; paginated sample, class counts are floors:

3 uncertain significance, 2 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1028772	NM_197947.3(CLEC7A):c.536T>C (p.Phe179Ser)	CLEC7A	Uncertain significance	criteria provided, single submitter
4057279	NM_197947.3(CLEC7A):c.665G>A (p.Trp222Ter)	CLEC7A	Uncertain significance	criteria provided, single submitter
626087	NM_197947.3(CLEC7A):c.414A>G (p.Leu138=)	CLEC7A	Uncertain significance	criteria provided, single submitter
4466	NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)	CLEC7A	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
789214	NM_197947.3(CLEC7A):c.397C>T (p.Leu133=)	CLEC7A	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

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

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CLEC7A	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
CLEC7A	HGNC:14558	ENSG00000172243	Q9BXN2	C-type lectin domain family 7 member A	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CLEC7A	C-type lectin domain family 7 member A	Lectin that functions as a pattern recognizing receptor (PRR) specific for beta-1,3-linked and beta-1,6-linked glucans, which constitute cell wall constituents from pathogenic bacteria and fungi.

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)
CLEC7A	Other/Unknown	no		C-type_lectin-like, C-type_lectin-like/link_sf, CTDL_fold

Expression context

Cohort genes with no expression data: 0.

1 cohort gene are a single-cell marker in ≥1 SCXA experiment.

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
leukocyte	1
monocyte	1
mononuclear cell	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CLEC7A	249	broad	marker	monocyte, mononuclear cell, leukocyte

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CLEC7A	2,364

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CLEC7A	Q9BXN2	77.90

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 1. 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
CLEC7A (Dectin-1) signaling	1	142.8×	0.007	CLEC7A

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
detection of molecule of fungal origin	1	16852.0×	9e-04	CLEC7A
positive regulation of lymphocyte activation	1	16852.0×	9e-04	CLEC7A
positive regulation of cell maturation	1	16852.0×	9e-04	CLEC7A
detection of yeast	1	8426.0×	9e-04	CLEC7A
carbohydrate mediated signaling	1	8426.0×	9e-04	CLEC7A
detection of fungus	1	8426.0×	9e-04	CLEC7A
regulation of calcineurin-NFAT signaling cascade	1	4213.0×	0.001	CLEC7A
cellular response to molecule of fungal origin	1	4213.0×	0.001	CLEC7A
positive regulation of dendritic cell cytokine production	1	3370.4×	0.001	CLEC7A
positive regulation of respiratory burst	1	3370.4×	0.001	CLEC7A
positive regulation of interleukin-23 production	1	2407.4×	0.002	CLEC7A
response to yeast	1	2106.5×	0.002	CLEC7A
phagocytosis, recognition	1	2106.5×	0.002	CLEC7A
cell recognition	1	1872.4×	0.002	CLEC7A
cell activation	1	1685.2×	0.002	CLEC7A
cell surface pattern recognition receptor signaling pathway	1	1404.3×	0.002	CLEC7A
positive regulation of T-helper 17 type immune response	1	1404.3×	0.002	CLEC7A
positive regulation of monocyte chemotactic protein-1 production	1	1203.7×	0.002	CLEC7A
positive regulation of cytokine production involved in immune response	1	991.3×	0.003	CLEC7A
antifungal innate immune response	1	936.2×	0.003	CLEC7A
positive regulation of superoxide anion generation	1	887.0×	0.003	CLEC7A
positive regulation of calcineurin-NFAT signaling cascade	1	802.5×	0.003	CLEC7A
stimulatory C-type lectin receptor signaling pathway	1	732.7×	0.003	CLEC7A
defense response to protozoan	1	601.9×	0.003	CLEC7A
positive regulation of cytokine production involved in inflammatory response	1	543.6×	0.004	CLEC7A
positive regulation of wound healing	1	526.6×	0.004	CLEC7A
regulation of canonical NF-kappaB signal transduction	1	481.5×	0.004	CLEC7A
positive regulation of interleukin-2 production	1	468.1×	0.004	CLEC7A
positive regulation of nitric oxide biosynthetic process	1	455.5×	0.004	CLEC7A
positive regulation of calcium-mediated signaling	1	421.3×	0.004	CLEC7A

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
CLEC7A	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
CLEC7A	3	Binding:2, Functional:1

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	CLEC7A

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)
CLEC7A	3	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.