Primary ciliary dyskinesia 30

Summary

Primary ciliary dyskinesia 30 (MONDO:0014465) is a disease caused by ODAD3 (GenCC Strong), with 1 cohort gene.

At a glance

• Causal gene: ODAD3 (GenCC Strong)
• Cohort genes: 1
• ClinVar variants: 335

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	primary ciliary dyskinesia 30
Mondo ID	MONDO:0014465
OMIM	616037
DOID	DOID:0110624
UMLS	C4015016
MedGen	863453
GARD	0016052
Is cancer (heuristic)	no

Also known as: CCDC151 primary ciliary dyskinesia · CILD30 · ciliary dyskinesia, primary, 30 · ciliary dyskinesia, primary, type 30 · primary ciliary dyskinesia caused by mutation in CCDC151 · primary ciliary dyskinesia type 30

Data availability: 335 ClinVar variants · 2 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 30

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 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

335 retrieved; paginated sample, class counts are floors:

161 likely benign, 119 uncertain significance, 18 pathogenic, 16 likely pathogenic, 11 benign, 5 benign/likely benign, 4 conflicting classifications of pathogenicity, 1 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1012312	NM_145045.5(ODAD3):c.75del (p.Arg26fs)	ODAD3	Pathogenic	criteria provided, single submitter
156366	NM_145045.5(ODAD3):c.1256C>A (p.Ser419Ter)	ODAD3	Pathogenic	criteria provided, single submitter
1682783	NM_145045.5(ODAD3):c.591_592del (p.Asn197fs)	ODAD3	Pathogenic	criteria provided, single submitter
1983184	NM_145045.5(ODAD3):c.253del (p.Arg85fs)	ODAD3	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2140004	NM_145045.5(ODAD3):c.938_939del (p.Leu313fs)	ODAD3	Pathogenic	criteria provided, single submitter
2695507	NM_145045.5(ODAD3):c.708T>G (p.Tyr236Ter)	ODAD3	Pathogenic	criteria provided, single submitter
2733122	NM_145045.5(ODAD3):c.118C>T (p.Arg40Ter)	ODAD3	Pathogenic	criteria provided, single submitter
2755194	NM_145045.5(ODAD3):c.49C>T (p.Gln17Ter)	ODAD3	Pathogenic	criteria provided, single submitter
2862704	NM_145045.5(ODAD3):c.903_906del (p.Ile301fs)	ODAD3	Pathogenic	criteria provided, single submitter
2863183	NM_145045.5(ODAD3):c.522del (p.Gln175fs)	ODAD3	Pathogenic	criteria provided, single submitter
2885350	NM_145045.5(ODAD3):c.874C>T (p.Arg292Ter)	ODAD3	Pathogenic	criteria provided, single submitter
3701029	NM_145045.5(ODAD3):c.1585del (p.Arg529fs)	ODAD3	Pathogenic	criteria provided, single submitter
4531302	NM_145045.5(ODAD3):c.1445_1446del (p.Arg482fs)	ODAD3	Pathogenic	criteria provided, multiple submitters, no conflicts
4710580	NM_145045.5(ODAD3):c.411G>A (p.Trp137Ter)	ODAD3	Pathogenic	criteria provided, single submitter
477980	NM_145045.5(ODAD3):c.267dup (p.Glu90Ter)	ODAD3	Pathogenic	criteria provided, multiple submitters, no conflicts
521708	NM_145045.5(ODAD3):c.1060C>T (p.Gln354Ter)	ODAD3	Pathogenic	criteria provided, multiple submitters, no conflicts
570784	NM_145045.5(ODAD3):c.583_595dup (p.His199fs)	ODAD3	Pathogenic	criteria provided, multiple submitters, no conflicts
647259	NM_145045.5(ODAD3):c.487C>T (p.Gln163Ter)	ODAD3	Pathogenic	criteria provided, single submitter
830990	NC_000019.9:g.(?11541499)(11545857_?)del	ODAD3	Pathogenic	criteria provided, single submitter
1324025	NM_145045.5(ODAD3):c.423C>A (p.Tyr141Ter)	ODAD3	Likely pathogenic	criteria provided, single submitter
1959852	NM_145045.5(ODAD3):c.367-1G>A	ODAD3	Likely pathogenic	criteria provided, single submitter
2044380	NM_145045.5(ODAD3):c.1116+1G>A	ODAD3	Likely pathogenic	criteria provided, single submitter
2921012	NM_145045.5(ODAD3):c.694C>T (p.Gln232Ter)	ODAD3	Likely pathogenic	criteria provided, single submitter
2991253	NM_145045.5(ODAD3):c.244+5G>T	ODAD3	Likely pathogenic	criteria provided, single submitter
3064081	NM_145045.5(ODAD3):c.244+1G>A	ODAD3	Likely pathogenic	criteria provided, single submitter
3064090	NM_145045.5(ODAD3):c.787G>T (p.Glu263Ter)	ODAD3	Likely pathogenic	criteria provided, single submitter
3068087	NM_145045.5(ODAD3):c.378del (p.Val127fs)	ODAD3	Likely pathogenic	criteria provided, single submitter
3242104	NM_145045.5(ODAD3):c.405G>A (p.Trp135Ter)	ODAD3	Likely pathogenic	criteria provided, single submitter
3362312	NM_145045.5(ODAD3):c.281G>A (p.Trp94Ter)	ODAD3	Likely pathogenic	criteria provided, single submitter
3381853	NM_145045.5(ODAD3):c.157dup (p.Ser53fs)	ODAD3	Likely pathogenic	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 3 · 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
ODAD3	Strong	Autosomal recessive	primary ciliary dyskinesia 30	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
ODAD3	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
ODAD3	HGNC:28303	ENSG00000198003	A5D8V7	Outer dynein arm-docking complex subunit 3	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
ODAD3	Outer dynein arm-docking complex subunit 3	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)
ODAD3	Other/Unknown	no		ODAD3

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
ODAD3	177	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
ODAD3	1,817

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
ODAD3	A5D8V7	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
determination of heart left/right asymmetry	1	3370.4×	0.004	ODAD3
epithelial cilium movement involved in determination of left/right asymmetry	1	1296.3×	0.004	ODAD3
cerebrospinal fluid circulation	1	887.0×	0.004	ODAD3
seminiferous tubule development	1	766.0×	0.004	ODAD3
outer dynein arm assembly	1	732.7×	0.004	ODAD3
homeostasis of number of cells	1	674.1×	0.004	ODAD3
regulation of cilium assembly	1	601.9×	0.004	ODAD3
cilium movement	1	391.9×	0.005	ODAD3
determination of left/right symmetry	1	255.3×	0.007	ODAD3
single fertilization	1	183.2×	0.008	ODAD3
cell morphogenesis	1	157.5×	0.009	ODAD3
multicellular organism growth	1	137.0×	0.009	ODAD3
flagellated sperm motility	1	117.0×	0.010	ODAD3
brain development	1	79.5×	0.013	ODAD3
spermatogenesis	1	35.2×	0.028	ODAD3

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
ODAD3	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	ODAD3

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)
ODAD3	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.