Ciliary dyskinesia, primary, 43

disease

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Also known as CILD43

Summary

Ciliary dyskinesia, primary, 43 (MONDO:0032874) is a disease caused by FOXJ1 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: FOXJ1 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 15

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ciliary dyskinesia, primary, 43
Mondo ID	MONDO:0032874
OMIM	618699
DOID	DOID:0111856
UMLS	C5231466
MedGen	1684675
GARD	0025764
Is cancer (heuristic)	no

Also known as: CILD43

Data availability: 15 ClinVar variants · 4 GenCC gene-disease records.

Disease family

Classification path: disease › human disease › disease by body system or component › syndromic disease › primary ciliary dyskinesia › ciliary dyskinesia, primary, 43

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

15 retrieved; paginated sample, class counts are floors:

7 uncertain significance, 4 pathogenic, 2 likely pathogenic, 1 conflicting classifications of pathogenicity, 1 not provided

ClinVar	Variant (HGVS)	Gene	Classification	Review
800278	NM_001454.4(FOXJ1):c.901G>T (p.Glu301Ter)	FOXJ1	Pathogenic	no assertion criteria provided
800279	NM_001454.4(FOXJ1):c.868_871dup (p.Thr291fs)	FOXJ1	Pathogenic	no assertion criteria provided
800280	NM_001454.4(FOXJ1):c.826C>T (p.Gln276Ter)	FOXJ1	Pathogenic	criteria provided, single submitter
800281	NM_001454.4(FOXJ1):c.967del (p.Glu323fs)	FOXJ1	Pathogenic	no assertion criteria provided
3066105	NM_001454.4(FOXJ1):c.913dup (p.Leu305fs)	FOXJ1	Likely pathogenic	criteria provided, single submitter
3390985	NM_001454.4(FOXJ1):c.223dup (p.Leu75fs)	FOXJ1	Likely pathogenic	no assertion criteria provided
1803205	NM_001454.4(FOXJ1):c.1015G>A (p.Ala339Thr)	FOXJ1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
2664712	NM_001454.4(FOXJ1):c.403C>G (p.Gln135Glu)	FOXJ1	Uncertain significance	criteria provided, multiple submitters, no conflicts
3065691	NM_001454.4(FOXJ1):c.722T>C (p.Leu241Pro)	FOXJ1	Uncertain significance	criteria provided, single submitter
3391396	NM_001454.4(FOXJ1):c.1237G>T (p.Asp413Tyr)	FOXJ1	Uncertain significance	criteria provided, single submitter
3583064	NM_001454.4(FOXJ1):c.17T>G (p.Leu6Arg)	FOXJ1	Uncertain significance	criteria provided, single submitter
3892397	NM_001454.4(FOXJ1):c.280T>C (p.Ser94Pro)	FOXJ1	Uncertain significance	criteria provided, single submitter
4078675	NM_001454.4(FOXJ1):c.830C>T (p.Pro277Leu)	FOXJ1	Uncertain significance	criteria provided, single submitter
4277677	NM_001454.4(FOXJ1):c.1039A>G (p.Thr347Ala)	FOXJ1	Uncertain significance	criteria provided, single submitter
3256116	NM_001454.4(FOXJ1):c.1129del (p.Leu377fs)	FOXJ1	not provided	no classification provided

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 5 · 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
FOXJ1	Strong	Autosomal dominant	ciliary dyskinesia, primary, 43	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
FOXJ1	Orphanet:244	Primary ciliary dyskinesia

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
FOXJ1	HGNC:3816	ENSG00000129654	Q92949	Forkhead box protein J1	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
FOXJ1	Forkhead box protein J1	Transcription factor specifically required for the formation of motile cilia.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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
Transcription factor	1	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
FOXJ1	Transcription factor	no		Fork_head_dom, TF_fork_head_CS_1, TF_fork_head_CS_2

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
epithelium of bronchus	1
olfactory segment of nasal mucosa	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
FOXJ1	155	broad	marker	right uterine tube, olfactory segment of nasal mucosa, epithelium of bronchus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
FOXJ1	2,079

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
FOXJ1	Q92949	59.44

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
central tolerance induction	1	16852.0×	6e-04	FOXJ1
positive regulation of central B cell tolerance induction	1	16852.0×	6e-04	FOXJ1
glomerular parietal epithelial cell development	1	16852.0×	6e-04	FOXJ1
negative regulation of germinal center formation	1	8426.0×	8e-04	FOXJ1
positive regulation of lung ciliated cell differentiation	1	8426.0×	8e-04	FOXJ1
negative regulation of humoral immune response mediated by circulating immunoglobulin	1	5617.3×	9e-04	FOXJ1
metanephric part of ureteric bud development	1	4213.0×	0.001	FOXJ1
ciliary basal body organization	1	3370.4×	0.001	FOXJ1
establishment of apical/basal cell polarity	1	3370.4×	0.001	FOXJ1
negative regulation of T cell differentiation in thymus	1	2808.7×	0.001	FOXJ1
negative regulation of B cell activation	1	2407.4×	0.001	FOXJ1
lung epithelium development	1	2106.5×	0.001	FOXJ1
epithelium development	1	2106.5×	0.001	FOXJ1
leukocyte migration	1	624.1×	0.004	FOXJ1
motile cilium assembly	1	581.1×	0.004	FOXJ1
axoneme assembly	1	543.6×	0.004	FOXJ1
negative regulation of non-canonical NF-kappaB signal transduction	1	510.7×	0.004	FOXJ1
pattern specification process	1	468.1×	0.004	FOXJ1
cell maturation	1	443.5×	0.004	FOXJ1
negative regulation of interleukin-6 production	1	351.1×	0.005	FOXJ1
negative regulation of T cell proliferation	1	330.4×	0.005	FOXJ1
humoral immune response	1	280.9×	0.005	FOXJ1
determination of left/right symmetry	1	255.3×	0.005	FOXJ1
intracellular protein localization	1	104.7×	0.013	FOXJ1
brain development	1	79.5×	0.015	FOXJ1
actin cytoskeleton organization	1	79.1×	0.015	FOXJ1
heart development	1	78.8×	0.015	FOXJ1
cilium assembly	1	73.6×	0.016	FOXJ1
spermatogenesis	1	35.2×	0.031	FOXJ1
negative regulation of transcription by RNA polymerase II	1	17.7×	0.060	FOXJ1

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 1 evidence-associated genes (0%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).

Top cohort targets by molecule count

Symbol	Molecules	Max phase
FOXJ1	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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	FOXJ1

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)
FOXJ1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: FOXJ1