Primary ciliary dyskinesia 24

Summary

Primary ciliary dyskinesia 24 (MONDO:0014202) is a disease caused by RSPH1 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: RSPH1 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 29

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	primary ciliary dyskinesia 24
Mondo ID	MONDO:0014202
OMIM	615481
DOID	DOID:0110628
UMLS	C3809634
MedGen	815964
GARD	0015971
Is cancer (heuristic)	no

Also known as: CILD24 · ciliary dyskinesia, primary, 24 · ciliary dyskinesia, primary, type 24 · primary ciliary dyskinesia 24 · primary ciliary dyskinesia caused by mutation in RSPH1 · primary ciliary dyskinesia type 24 · RSPH1 primary ciliary dyskinesia

Data availability: 29 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 › primary ciliary dyskinesia 24

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 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, 46, 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

29 retrieved; paginated sample, class counts are floors:

6 benign/likely benign, 5 uncertain significance, 5 benign, 4 conflicting classifications of pathogenicity, 4 pathogenic, 3 pathogenic/likely pathogenic, 2 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
664828	NM_080860.4(RSPH1):c.196C>T (p.Arg66Ter)	LOC126653391	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
66987	NM_080860.4(RSPH1):c.85G>T (p.Glu29Ter)	LOC126653391	Pathogenic	criteria provided, multiple submitters, no conflicts
144011	NM_080860.4(RSPH1):c.281G>A (p.Trp94Ter)	RSPH1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
165057	NM_080860.4(RSPH1):c.563T>G (p.Leu188Ter)	RSPH1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
548598	NM_080860.4(RSPH1):c.315C>G (p.Tyr105Ter)	RSPH1	Pathogenic	criteria provided, single submitter
66988	NM_080860.4(RSPH1):c.366-3C>A	RSPH1	Pathogenic	criteria provided, single submitter
66990	NM_080860.4(RSPH1):c.275-2A>C	RSPH1	Pathogenic	criteria provided, multiple submitters, no conflicts
1339557	NM_080860.4(RSPH1):c.637C>T (p.Gln213Ter)	RSPH1	Likely pathogenic	criteria provided, single submitter
66989	NM_080860.4(RSPH1):c.407_410del (p.Lys136fs)	RSPH1	Likely pathogenic	criteria provided, single submitter
3587685	NM_080860.4(RSPH1):c.274+19G>A	LOC126653391	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
208999	NM_080860.4(RSPH1):c.727+5G>A	RSPH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
408126	NM_080860.4(RSPH1):c.907A>G (p.Arg303Gly)	RSPH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
852534	NM_080860.4(RSPH1):c.847C>T (p.Gln283Ter)	RSPH1	Conflicting classifications of pathogenicity	criteria provided, conflicting classifications
1028540	NM_080860.4(RSPH1):c.916G>C (p.Asp306His)	RSPH1	Uncertain significance	criteria provided, multiple submitters, no conflicts
4292503	NM_080860.4(RSPH1):c.501+5G>A	RSPH1	Uncertain significance	criteria provided, single submitter
454951	NM_080860.4(RSPH1):c.727A>G (p.Ser243Gly)	RSPH1	Uncertain significance	criteria provided, multiple submitters, no conflicts
66991	NM_080860.4(RSPH1):c.308G>A (p.Gly103Asp)	RSPH1	Uncertain significance	criteria provided, single submitter
846299	NM_080860.4(RSPH1):c.391G>A (p.Ala131Thr)	RSPH1	Uncertain significance	criteria provided, multiple submitters, no conflicts
1297838	NM_080860.4(RSPH1):c.-43C>T	LOC130066749	Benign	criteria provided, multiple submitters, no conflicts
1214017	NM_080860.4(RSPH1):c.727+19del	RSPH1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
1269061	NM_080860.4(RSPH1):c.727+46G>A	RSPH1	Benign	criteria provided, multiple submitters, no conflicts
1602073	NM_080860.4(RSPH1):c.727+15C>G	RSPH1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
227050	NM_080860.4(RSPH1):c.393G>A (p.Ala131=)	RSPH1	Benign	criteria provided, multiple submitters, no conflicts
227052	NM_080860.4(RSPH1):c.742G>A (p.Gly248Arg)	RSPH1	Benign	criteria provided, multiple submitters, no conflicts
241784	NM_080860.4(RSPH1):c.450C>T (p.Ala150=)	RSPH1	Benign	criteria provided, multiple submitters, no conflicts
241785	NM_080860.4(RSPH1):c.501+7C>T	RSPH1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
241788	NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)	RSPH1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
504821	NM_080860.4(RSPH1):c.365+13T>C	RSPH1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts
698289	NM_080860.4(RSPH1):c.877+7T>A	RSPH1	Benign/Likely benign	criteria provided, multiple submitters, no conflicts

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
RSPH1	Definitive	Autosomal recessive	primary ciliary dyskinesia 24	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
RSPH1	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
RSPH1	HGNC:12371	ENSG00000160188	Q8WYR4	Radial spoke head 1 homolog	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
RSPH1	Radial spoke head 1 homolog	Functions as part of axonemal radial spoke complexes that play an important part in the motility of sperm and cilia.

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)
RSPH1	Other/Unknown	no		MORN

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
bronchial epithelial cell	1
bronchus	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
RSPH1	200	broad	marker	bronchial epithelial cell, bronchus, right uterine tube

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
RSPH1	1,431

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
RSPH1	Q8WYR4	1

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
axoneme assembly	1	543.6×	0.006	RSPH1
meiotic cell cycle	1	244.2×	0.006	RSPH1
spermatid development	1	145.3×	0.007	RSPH1

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
RSPH1	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	RSPH1

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)
RSPH1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.