Ciliary dyskinesia, primary, 46

Summary

Ciliary dyskinesia, primary, 46 (MONDO:0030332) is a disease with 1 cohort gene.

At a glance

• Cohort genes: 1
• ClinVar variants: 11

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ciliary dyskinesia, primary, 46
Mondo ID	MONDO:0030332
OMIM	619436
UMLS	C5543646
MedGen	1780196
GARD	0025542
Is cancer (heuristic)	no

Also known as: CILD46 · ciliary dyskinesia, primary, 46

Data availability: 11 ClinVar variants · 3 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, 46

Related subtypes (58): ciliary discoordination due to random ciliary orientation, ciliary dyskinesia with transposition of ciliary microtubules, ciliary dyskinesia with defective radial spokes, ciliary dyskinesia with excessively long cilia, Stromme syndrome, primary ciliary dyskinesia 1, ciliary dyskinesia, primary, 36, X-linked, primary ciliary dyskinesia 2, primary ciliary dyskinesia 3, primary ciliary dyskinesia 4, primary ciliary dyskinesia 5, primary ciliary dyskinesia 6, primary ciliary dyskinesia 7, primary ciliary dyskinesia 8, primary ciliary dyskinesia 9, primary ciliary dyskinesia 10, primary ciliary dyskinesia 11, primary ciliary dyskinesia 12, primary ciliary dyskinesia 13, primary ciliary dyskinesia 14, primary ciliary dyskinesia 15, primary ciliary dyskinesia 16, primary ciliary dyskinesia 17, primary ciliary dyskinesia 18, primary ciliary dyskinesia 19, primary ciliary dyskinesia 20, primary ciliary dyskinesia 21, primary ciliary dyskinesia 22, primary ciliary dyskinesia 23, primary ciliary dyskinesia 24, primary ciliary dyskinesia 25, primary ciliary dyskinesia 26, primary ciliary dyskinesia 27, primary ciliary dyskinesia 28, primary ciliary dyskinesia 29, primary ciliary dyskinesia 30, primary ciliary dyskinesia 32, primary ciliary dyskinesia 33, primary ciliary dyskinesia 34, primary ciliary dyskinesia 35, ciliary dyskinesia, primary, 47, and lissencephaly, ciliary dyskinesia, primary, 48, without situs inversus, ciliary dyskinesia, primary, 39, ciliary dyskinesia, primary, 40, ciliary dyskinesia, primary, 41, ciliary dyskinesia, primary, 42, ciliary dyskinesia, primary, 43, ciliary dyskinesia, primary, 44, ciliary dyskinesia, primary, 45, ciliary dyskinesia, primary, 37, ciliary dyskinesia, primary, 38, ciliary dyskinesia, primary, 54, ciliary dyskinesia, primary, 49, without situs inversus, ciliary dyskinesia, primary, 50, ciliary dyskinesia, primary, 51, ciliary dyskinesia, primary, 52, ciliary dyskinesia, primary, 53, CFAP46-related primary ciliary dyskinesia

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

11 retrieved; paginated sample, class counts are floors:

6 uncertain significance, 2 likely pathogenic, 1 pathogenic, 1 benign, 1 benign/likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
1179004	NM_015690.5(STK36):c.1399del (p.Glu467fs)	STK36	Pathogenic	no assertion criteria provided
3780678	NM_015690.5(STK36):c.2758del (p.Gln920fs)	STK36	Likely pathogenic	criteria provided, single submitter
3780679	NM_015690.5(STK36):c.2761+1G>T	STK36	Likely pathogenic	criteria provided, single submitter
1691312	NM_015690.5(STK36):c.1232A>T (p.Asn411Ile)	STK36	Uncertain significance	criteria provided, single submitter
1691318	NM_015690.5(STK36):c.3643G>A (p.Ala1215Thr)	STK36	Uncertain significance	criteria provided, multiple submitters, no conflicts
2436509	NM_015690.5(STK36):c.1915+1G>A	STK36	Uncertain significance	criteria provided, single submitter
2504123	NM_015690.5(STK36):c.365T>C (p.Leu122Pro)	STK36	Uncertain significance	criteria provided, multiple submitters, no conflicts
3323331	NM_015690.5(STK36):c.482A>G (p.Lys161Arg)	STK36	Uncertain significance	criteria provided, multiple submitters, no conflicts
3350730	NM_015690.5(STK36):c.642G>A (p.Lys214=)	STK36	Uncertain significance	criteria provided, single submitter
779868	NM_015690.5(STK36):c.3540C>T (p.Ala1180=)	STK36	Benign	criteria provided, multiple submitters, no conflicts
780860	NM_015690.5(STK36):c.2518T>G (p.Leu840Val)	STK36	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 4 · 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
STK36	Supportive	Autosomal dominant	primary ciliary dyskinesia	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
STK36	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
STK36	HGNC:17209	ENSG00000163482	Q9NRP7	Serine/threonine-protein kinase 36	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
STK36	Serine/threonine-protein kinase 36	Serine/threonine protein kinase which plays an important role in the sonic hedgehog (Shh) pathway by regulating the activity of GLI transcription factors.

Protein-family classification

Druggable: 1 · Difficult: 0 · Unknown: 0 · Druggable fraction: 1.0

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
Kinase	1	27.7×	0.036

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
STK36	Kinase	yes		Prot_kinase_dom, Ser/Thr_kinase_AS, Kinase-like_dom_sf

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
adenohypophysis	1
left testis	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
STK36	218	ubiquitous	marker	right uterine tube, adenohypophysis, left testis

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
STK36	884

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
STK36	Q9NRP7	81.22

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
obsolete regulation of DNA-binding transcription factor activity	1	1532.0×	0.005	STK36
epithelial cilium movement involved in extracellular fluid movement	1	766.0×	0.005	STK36
axoneme assembly	1	543.6×	0.005	STK36
positive regulation of smoothened signaling pathway	1	421.3×	0.005	STK36
post-embryonic development	1	205.5×	0.008	STK36
smoothened signaling pathway	1	181.2×	0.008	STK36
brain development	1	79.5×	0.015	STK36
cilium assembly	1	73.6×	0.015	STK36
protein phosphorylation	1	68.0×	0.015	STK36

Therapeutics

Drug target analysis

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

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

Genes with an approved drug

The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.

Symbol	Example approved molecule
STK36	FEDRATINIB

Top cohort targets by molecule count

Symbol	Molecules	Max phase
STK36	19	4

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
FEDRATINIB	4	STK36
SORAFENIB	4	STK36
NERATINIB	4	STK36
BOSUTINIB	4	STK36
PAZOPANIB	4	STK36
DASATINIB	4	STK36
ERLOTINIB	4	STK36
GEFITINIB	4	STK36
CANERTINIB	3	STK36
LESTAURTINIB	3	STK36
FORETINIB	2	STK36
DEFOSBARASERTIB	2	STK36
R-406	2	STK36
RAF-265	2	STK36
PELITINIB	2	STK36
R-1487	1	STK36
BMS-387032	1	STK36
GSK-690693	1	STK36
AST-487	1	STK36

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

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

Symbol	Assays	Type breakdown
STK36	77	Binding:77

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

19 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.

Compound	Max phase	Cohort target (bioactivity)
FEDRATINIB	4	STK36
SORAFENIB	4	STK36
NERATINIB	4	STK36
BOSUTINIB	4	STK36
PAZOPANIB	4	STK36
DASATINIB	4	STK36
ERLOTINIB	4	STK36
GEFITINIB	4	STK36
CANERTINIB	3	STK36
LESTAURTINIB	3	STK36
FORETINIB	2	STK36
DEFOSBARASERTIB	2	STK36
R-406	2	STK36
RAF-265	2	STK36
PELITINIB	2	STK36
R-1487	1	STK36
BMS-387032	1	STK36
GSK-690693	1	STK36
AST-487	1	STK36

Druggability pyramid

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

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	1	STK36
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	0

Undrugged target profiles

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

Clinical trials & evidence

Clinical trials

Clinical trials: 0.