Primary ciliary dyskinesia 19

Summary

Primary ciliary dyskinesia 19 (MONDO:0013979) is a disease caused by DNAAF11 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: DNAAF11 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 251

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	primary ciliary dyskinesia 19
Mondo ID	MONDO:0013979
OMIM	614935
DOID	DOID:0110608
UMLS	C3543826
MedGen	762332
GARD	0015883
Is cancer (heuristic)	no

Also known as: CILD19 · ciliary dyskinesia, primary, 19 · ciliary dyskinesia, primary, type 19 · LRRC6 primary ciliary dyskinesia · primary ciliary dyskinesia 19 · primary ciliary dyskinesia caused by mutation in LRRC6 · primary ciliary dyskinesia type 19

Data availability: 251 ClinVar variants · 5 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 19

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 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, 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

251 retrieved; paginated sample, class counts are floors:

92 likely benign, 84 uncertain significance, 29 pathogenic, 18 conflicting classifications of pathogenicity, 8 likely pathogenic, 8 benign/likely benign, 7 benign, 5 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1071740	NM_012472.6(DNAAF11):c.450_451delinsGT (p.Ile150_Glu151delinsMetTer)	DNAAF11	Pathogenic	criteria provided, single submitter
1526036	NM_012472.6(DNAAF11):c.1142del (p.Val381fs)	DNAAF11	Pathogenic	criteria provided, single submitter
1681037	NM_012472.6(DNAAF11):c.724_725del (p.Asn242fs)	DNAAF11	Pathogenic	criteria provided, single submitter
1800310	NM_012472.6(DNAAF11):c.1024C>T (p.Arg342Ter)	DNAAF11	Pathogenic	criteria provided, multiple submitters, no conflicts
208996	NM_012472.6(DNAAF11):c.630del (p.Trp210fs)	DNAAF11	Pathogenic	criteria provided, multiple submitters, no conflicts
2137422	NM_012472.6(DNAAF11):c.845del (p.Lys282fs)	DNAAF11	Pathogenic	criteria provided, single submitter
2149443	NM_012472.6(DNAAF11):c.974+1G>T	DNAAF11	Pathogenic	criteria provided, single submitter
2421581	NM_012472.6(DNAAF11):c.1A>G (p.Met1Val)	DNAAF11	Pathogenic	criteria provided, single submitter
2787661	NM_012472.6(DNAAF11):c.451G>T (p.Glu151Ter)	DNAAF11	Pathogenic	criteria provided, single submitter
2842606	NM_012472.6(DNAAF11):c.845dup (p.Lys283fs)	DNAAF11	Pathogenic	criteria provided, single submitter
2978634	NM_012472.6(DNAAF11):c.55_56del (p.Val19fs)	DNAAF11	Pathogenic	criteria provided, single submitter
3382932	NM_012472.6(DNAAF11):c.183T>G (p.Asn61Lys)	DNAAF11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3382933	NM_012472.6(DNAAF11):c.179-1G>A	DNAAF11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
3631750	NM_012472.6(DNAAF11):c.64dup (p.Ser22fs)	DNAAF11	Pathogenic	criteria provided, single submitter
3654296	NM_012472.6(DNAAF11):c.302_309del (p.Gly101fs)	DNAAF11	Pathogenic	criteria provided, single submitter
3655793	NM_012472.6(DNAAF11):c.169_173delinsTCCCAAT (p.Gly57fs)	DNAAF11	Pathogenic	criteria provided, single submitter
3721556	NM_012472.6(DNAAF11):c.224T>G (p.Leu75Ter)	DNAAF11	Pathogenic	criteria provided, single submitter
3900047	Single allele	DNAAF11	Pathogenic	criteria provided, single submitter
39794	NM_012472.6(DNAAF11):c.598_599del (p.Lys200fs)	DNAAF11	Pathogenic	criteria provided, multiple submitters, no conflicts
39795	NM_012472.6(DNAAF11):c.574C>T (p.Gln192Ter)	DNAAF11	Pathogenic	criteria provided, single submitter
39796	NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)	DNAAF11	Pathogenic	no assertion criteria provided
39798	NM_012472.6(DNAAF11):c.436G>C (p.Asp146His)	DNAAF11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
4713190	NM_012472.6(DNAAF11):c.940_941insGGCCGGTCGCGGTGGCTCACGCCTGTAATCACAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAGAAAGATAACG (p.Asn313_Glu314insGlyProValAlaValAlaHisAlaCysAsnHisSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaLysLysLysLysLysLysLysLysAspAsn)	DNAAF11	Pathogenic	criteria provided, single submitter
4777357	NM_012472.6(DNAAF11):c.486T>G (p.Tyr162Ter)	DNAAF11	Pathogenic	criteria provided, single submitter
540325	NM_012472.6(DNAAF11):c.633C>A (p.Tyr211Ter)	DNAAF11	Pathogenic	criteria provided, single submitter
540327	NM_012472.6(DNAAF11):c.79_80del (p.Ser27fs)	DNAAF11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
540328	NM_012472.6(DNAAF11):c.1050del (p.Gln351fs)	DNAAF11	Pathogenic	criteria provided, single submitter
652985	NM_012472.6(DNAAF11):c.10+1G>A	DNAAF11	Pathogenic	criteria provided, single submitter
654068	NM_012472.6(DNAAF11):c.936_937del (p.Asp312fs)	DNAAF11	Pathogenic	criteria provided, multiple submitters, no conflicts
66028	NM_012472.6(DNAAF11):c.562C>T (p.Gln188Ter)	DNAAF11	Pathogenic	criteria provided, single submitter

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
DNAAF11	Definitive	Autosomal recessive	primary ciliary dyskinesia 19	5

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DNAAF11	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
DNAAF11	HGNC:16725	ENSG00000129295	Q86X45	Dynein axonemal assembly factor 11	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DNAAF11	Dynein axonemal assembly factor 11	Involved in dynein arm assembly, is important for expression and transporting outer dynein arm (ODA) proteins from the cytoplasm to the 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)
DNAAF11	Other/Unknown	no		Leu-rich_rpt, U2A’_phosphoprotein32A_C, CS_dom

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
epithelium of bronchus	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DNAAF11	219	broad	marker	right uterine tube, bronchial epithelial cell, epithelium of bronchus

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DNAAF11	1,331

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DNAAF11	Q86X45	74.44

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
protein localization to motile cilium	1	3370.4×	0.003	DNAAF11
reproductive system development	1	2407.4×	0.003	DNAAF11
epithelial cilium movement involved in determination of left/right asymmetry	1	1296.3×	0.003	DNAAF11
axonemal dynein complex assembly	1	1053.2×	0.003	DNAAF11
inner dynein arm assembly	1	887.0×	0.003	DNAAF11
cerebrospinal fluid circulation	1	887.0×	0.003	DNAAF11
epithelial cilium movement involved in extracellular fluid movement	1	766.0×	0.003	DNAAF11
outer dynein arm assembly	1	732.7×	0.003	DNAAF11
motile cilium assembly	1	581.1×	0.003	DNAAF11
protein localization to cilium	1	401.2×	0.003	DNAAF11
cilium movement	1	391.9×	0.003	DNAAF11
establishment of localization in cell	1	160.5×	0.007	DNAAF11
male gonad development	1	156.0×	0.007	DNAAF11
flagellated sperm motility	1	117.0×	0.009	DNAAF11
actin cytoskeleton organization	1	79.1×	0.013	DNAAF11

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
DNAAF11	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	DNAAF11

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)
DNAAF11	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.