Primary ciliary dyskinesia 23

Summary

Primary ciliary dyskinesia 23 (MONDO:0014193) is a disease caused by ODAD2 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: ODAD2 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 515

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	primary ciliary dyskinesia 23
Mondo ID	MONDO:0014193
OMIM	615451
DOID	DOID:0110609
UMLS	C3809548
MedGen	815878
GARD	0015969
Is cancer (heuristic)	no

Also known as: ARMC4 primary ciliary dyskinesia · CILD23 · ciliary dyskinesia, primary, 23 · ciliary dyskinesia, primary, type 23 · primary ciliary dyskinesia caused by mutation in ARMC4 · primary ciliary dyskinesia type 23

Data availability: 515 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 › primary ciliary dyskinesia 23

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 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, 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

515 retrieved; paginated sample, class counts are floors:

222 likely benign, 178 uncertain significance, 39 pathogenic, 24 benign, 18 likely pathogenic, 17 benign/likely benign, 12 conflicting classifications of pathogenicity, 5 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1681404	NM_018076.5(ODAD2):c.97G>T (p.Glu33Ter)	LOC126860891	Pathogenic	criteria provided, single submitter
2194792	NM_018076.5(ODAD2):c.183_184del (p.Ser62fs)	LOC126860891	Pathogenic	criteria provided, single submitter
101070	NM_018076.5(ODAD2):c.1972G>T (p.Glu658Ter)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
2015120	NM_018076.5(ODAD2):c.2741del (p.Asn914fs)	ODAD2	Pathogenic	criteria provided, single submitter
2061574	NM_018076.5(ODAD2):c.781_782del (p.Cys261fs)	ODAD2	Pathogenic	criteria provided, single submitter
2083091	NM_018076.5(ODAD2):c.2807del (p.Asn936fs)	ODAD2	Pathogenic	criteria provided, single submitter
208997	NM_018076.5(ODAD2):c.1669G>T (p.Glu557Ter)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
2133774	NM_018076.5(ODAD2):c.356dup (p.Leu119fs)	ODAD2	Pathogenic	criteria provided, single submitter
2137356	NM_018076.5(ODAD2):c.1003G>T (p.Glu335Ter)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
242857	NM_018076.5(ODAD2):c.2495+1G>A	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
242858	NM_018076.5(ODAD2):c.1969C>T (p.Gln657Ter)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
242859	NM_018076.5(ODAD2):c.2219G>A (p.Trp740Ter)	ODAD2	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
242860	NM_018076.5(ODAD2):c.2014G>T (p.Glu672Ter)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
2714187	NM_018076.5(ODAD2):c.1424C>G (p.Ser475Ter)	ODAD2	Pathogenic	criteria provided, single submitter
2735387	NM_018076.5(ODAD2):c.247G>T (p.Glu83Ter)	ODAD2	Pathogenic	criteria provided, single submitter
2779040	NM_018076.5(ODAD2):c.788del (p.Thr263fs)	ODAD2	Pathogenic	criteria provided, single submitter
2800417	NM_018076.5(ODAD2):c.2845del (p.Cys949fs)	ODAD2	Pathogenic	criteria provided, single submitter
2801846	NM_018076.5(ODAD2):c.2368C>T (p.Arg790Ter)	ODAD2	Pathogenic	criteria provided, single submitter
280292	NM_018076.5(ODAD2):c.2406del (p.Leu802_Val803insTer)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
280673	NM_018076.5(ODAD2):c.857_858del (p.Arg286fs)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
2826067	NM_018076.5(ODAD2):c.778_779del (p.Leu260fs)	ODAD2	Pathogenic	criteria provided, single submitter
2989939	NM_018076.5(ODAD2):c.316C>T (p.Gln106Ter)	ODAD2	Pathogenic	criteria provided, single submitter
2995359	NM_018076.5(ODAD2):c.1549dup (p.Ile517fs)	ODAD2	Pathogenic	criteria provided, single submitter
3244906	NC_000010.10:g.(?28101441)(28101574_?)del	ODAD2	Pathogenic	criteria provided, single submitter
3244907	NC_000010.10:g.(?28149534)(28151571_?)del	ODAD2	Pathogenic	criteria provided, single submitter
3339104	NM_018076.5(ODAD2):c.2092del (p.Tyr698fs)	ODAD2	Pathogenic	criteria provided, multiple submitters, no conflicts
3653518	NM_018076.5(ODAD2):c.2912del (p.Tyr971fs)	ODAD2	Pathogenic	criteria provided, single submitter
3677573	NM_018076.5(ODAD2):c.1645_1646del (p.Lys549fs)	ODAD2	Pathogenic	criteria provided, single submitter
3700852	NM_018076.5(ODAD2):c.866C>A (p.Ser289Ter)	ODAD2	Pathogenic	criteria provided, single submitter
3726197	NM_018076.5(ODAD2):c.2196_2199dup (p.Ala734fs)	ODAD2	Pathogenic	criteria provided, single submitter

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
ODAD2	Definitive	Autosomal recessive	primary ciliary dyskinesia 23	4

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ODAD2	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
ODAD2	HGNC:25583	ENSG00000169126	Q5T2S8	Outer dynein arm-docking complex subunit 2	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ODAD2	Outer dynein arm-docking complex subunit 2	Component of the outer dynein arm-docking complex (ODA-DC) that mediates outer dynein arms (ODA) binding onto the doublet microtubule.

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)
ODAD2	Other/Unknown	no		Armadillo, ARM-like, ARM-type_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
bronchial epithelial cell	1
right uterine tube	1
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
ODAD2	173	broad	marker	bronchial epithelial cell, right uterine tube, sperm

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
ODAD2	2,251

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ODAD2	Q5T2S8	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
regulation of cilium beat frequency	1	2106.5×	0.003	ODAD2
ventricular system development	1	842.6×	0.003	ODAD2
outer dynein arm assembly	1	732.7×	0.003	ODAD2
cilium movement	1	391.9×	0.004	ODAD2
determination of left/right symmetry	1	255.3×	0.005	ODAD2
heart development	1	78.8×	0.013	ODAD2

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
ODAD2	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	ODAD2

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)
ODAD2	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.