Primary ciliary dyskinesia 7

Summary

Primary ciliary dyskinesia 7 (MONDO:0012748) is a disease caused by DNAH11 (GenCC Definitive), with 4 cohort genes.

At a glance

• Causal gene: DNAH11 (GenCC Definitive)
• Cohort genes: 4
• ClinVar variants: 571

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	primary ciliary dyskinesia 7
Mondo ID	MONDO:0012748
MeSH	C567504
OMIM	611884
DOID	DOID:0110605
UMLS	C2678473
MedGen	394834
GARD	0015533
Is cancer (heuristic)	no

Also known as: CILD7 · ciliary dyskinesia, primary, 7 · ciliary dyskinesia, primary, type 7 · DNAH11 primary ciliary dyskinesia · primary ciliary dyskinesia 7 · primary ciliary dyskinesia caused by mutation in DNAH11 · primary ciliary dyskinesia type 7

Data availability: 571 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 7

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 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, 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

571 retrieved; paginated sample, class counts are floors:

211 conflicting classifications of pathogenicity, 101 uncertain significance, 56 likely pathogenic, 53 pathogenic, 53 pathogenic/likely pathogenic, 52 benign/likely benign, 27 benign, 18 likely benign

ClinVar	Variant (HGVS)	Gene	Classification	Review
2880956	NM_001277115.2(DNAH11):c.13322_13335dup (p.Val4446fs)	CDCA7L	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
916128	NM_001277115.2(DNAH11):c.13373C>T (p.Pro4458Leu)	CDCA7L	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1012303	NM_001277115.2(DNAH11):c.7441-1G>C	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1012304	NM_001277115.2(DNAH11):c.8769_8785del (p.Val2924fs)	DNAH11	Pathogenic	criteria provided, single submitter
1012320	NM_001277115.2(DNAH11):c.9454A>T (p.Lys3152Ter)	DNAH11	Pathogenic	criteria provided, single submitter
1030335	NM_001277115.2(DNAH11):c.3223C>T (p.Gln1075Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1339540	NM_001277115.2(DNAH11):c.5247G>A (p.Trp1749Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1453708	NM_001277115.2(DNAH11):c.13242_13245del (p.Glu4416fs)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1460085	NM_001277115.2(DNAH11):c.860dup (p.Asn287fs)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1676058	NM_001277115.2(DNAH11):c.3791_3792del (p.Arg1264fs)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1685752	NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1707550	NM_001277115.2(DNAH11):c.3853-2202_4096-506del	DNAH11	Pathogenic	criteria provided, single submitter
1707559	NM_001277115.2(DNAH11):c.6642del (p.Phe2214fs)	DNAH11	Pathogenic	criteria provided, single submitter
1731721	NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1740508	NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1741069	NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1745170	NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1750036	NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1759768	NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1767001	NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1798212	NM_001277115.2(DNAH11):c.2965C>T (p.Arg989Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1805022	NM_001277115.2(DNAH11):c.3910del (p.Arg1304fs)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1805664	NM_001277115.2(DNAH11):c.7999C>T (p.Gln2667Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
1810037	NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
2061830	NM_001277115.2(DNAH11):c.4009C>T (p.Arg1337Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
208572	NM_001277115.2(DNAH11):c.8746C>T (p.Gln2916Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts
208573	NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2158417	NM_001277115.2(DNAH11):c.4273G>T (p.Glu1425Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
228332	NM_001277115.2(DNAH11):c.4333C>T (p.Arg1445Ter)	DNAH11	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
228333	NM_001277115.2(DNAH11):c.6244C>T (p.Arg2082Ter)	DNAH11	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 10 · Orphanet: 4 · 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
DNAH11	Definitive	Autosomal recessive	primary ciliary dyskinesia 7	4
DNAH1	Strong	Autosomal recessive	ciliary dyskinesia, primary, 37	6

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DNAH1	Orphanet:244	Primary ciliary dyskinesia
DNAH1	Orphanet:276234	Non-syndromic male infertility due to sperm motility disorder
DNAH11	Orphanet:244	Primary ciliary dyskinesia
DNAH5	Orphanet:244	Primary ciliary dyskinesia

Cohort genes → proteins

4 cohort genes, 4 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	4

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
DNAH1	HGNC:2940	ENSG00000114841	Q9P2D7	Dynein axonemal heavy chain 1	gencc,clinvar
DNAH11	HGNC:2942	ENSG00000105877	Q96DT5	Dynein axonemal heavy chain 11	gencc,clinvar
DNAH5	HGNC:2950	ENSG00000039139	Q8TE73	Dynein axonemal heavy chain 5	clinvar
CDCA7L	HGNC:30777	ENSG00000164649	Q96GN5	Cell division cycle-associated 7-like protein	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DNAH1	Dynein axonemal heavy chain 1	Force generating protein of cilia required for sperm flagellum motility.
DNAH11	Dynein axonemal heavy chain 11	Force generating protein required for cilia beating in respiratory epithelia.
DNAH5	Dynein axonemal heavy chain 5	Force generating protein of respiratory cilia.
CDCA7L	Cell division cycle-associated 7-like protein	Plays a role in transcriptional regulation as a repressor that inhibits monoamine oxidase A (MAOA) activity and gene expression by binding to the promoter.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 3 · 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
Transcription factor	1	2.1×	0.404
Other/Unknown	3	1.3×	0.404

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
DNAH1	Other/Unknown	no		Dhc_D6_P-loop, Dhc_linker, Dhc_D4
DNAH11	Other/Unknown	no		AAA+_ATPase, Dhc_D6_P-loop, Dynein_heavy_tail
DNAH5	Other/Unknown	no		AAA+_ATPase, Dhc_D6_P-loop, Dynein_heavy_tail
CDCA7L	Transcription factor	no		Znf-4CXXC_R1, CDCA7/CDA7L

Expression context

Cohort genes with no expression data: 0.

4 cohort genes 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)	4
unknown	0

Top tissues across cohort

Tissue	Cohort genes
bronchial epithelial cell	3
bronchus	3
right uterine tube	2
oviduct epithelium	1
germinal epithelium of ovary	1
primordial germ cell in gonad	1
ventricular zone	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DNAH1	183	tissue_specific	marker	right uterine tube, bronchial epithelial cell, bronchus
DNAH11	163	broad	marker	right uterine tube, bronchial epithelial cell, bronchus
DNAH5	184	broad	marker	bronchial epithelial cell, bronchus, oviduct epithelium
CDCA7L	239	ubiquitous	marker	germinal epithelium of ovary, primordial germ cell in gonad, ventricular zone

Protein interactions among cohort

Intra-cohort edges: 1.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
DNAH5	1,834
DNAH1	1,699
DNAH11	1,666
CDCA7L	1,413

Intra-cohort edges

A	B	Sources
CDCA7L	DNAH11	string_interaction

Structural data

PDB: 3 · AlphaFold-only: 1 · No structure: 0

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
DNAH1	Q9P2D7	2
CDCA7L	Q96GN5	2
DNAH5	Q8TE73	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
DNAH11	Q96DT5

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 4 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 4 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

GO term	Cohort genes	Fold	FDR	Sample cohort genes
flagellated sperm motility	3	87.8×	5e-05	DNAH1, DNAH11, DNAH5
epithelial cilium movement involved in extracellular fluid movement	2	383.0×	9e-05	DNAH1, DNAH5
cilium movement involved in cell motility	2	337.0×	9e-05	DNAH11, DNAH5
determination of left/right symmetry	2	127.7×	5e-04	DNAH11, DNAH5
determination of left/right asymmetry in nervous system	1	2106.5×	0.002	DNAH11
protein localization to motile cilium	1	842.6×	0.004	DNAH11
regulation of cilium beat frequency	1	526.6×	0.006	DNAH11
cilium-dependent cell motility	1	351.1×	0.006	DNAH1
lateral ventricle development	1	324.1×	0.006	DNAH5
epithelial cilium movement involved in determination of left/right asymmetry	1	324.1×	0.006	DNAH11
cardiac septum morphogenesis	1	300.9×	0.006	DNAH11
inner dynein arm assembly	1	221.7×	0.008	DNAH1
outer dynein arm assembly	1	183.2×	0.009	DNAH5
sperm axoneme assembly	1	117.0×	0.013	DNAH1
cilium movement	1	98.0×	0.014	DNAH5
learning or memory	1	60.2×	0.022	DNAH11
establishment of localization in cell	1	40.1×	0.031	DNAH5
heart development	1	19.7×	0.058	DNAH5
cilium assembly	1	18.4×	0.059	DNAH5
positive regulation of cell population proliferation	1	8.4×	0.119	CDCA7L
regulation of DNA-templated transcription	1	7.9×	0.121	CDCA7L

Therapeutics

Drug target analysis

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

Druggability breadth: 0 of 4 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
DNAH1	0	0
DNAH11	0	0
DNAH5	0	0
CDCA7L	0	0

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 0.

Pharmacogenomics

Cohort genes with a PharmGKB record: 4; 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	4	DNAH1, DNAH11, DNAH5, CDCA7L

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
DNAH1	0	—
DNAH11	0	—
DNAH5	0	—
CDCA7L	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.