Ciliary dyskinesia, primary, 38

Summary

Ciliary dyskinesia, primary, 38 (MONDO:0054843) is a disease caused by CFAP300 (GenCC Definitive), with 1 cohort gene.

At a glance

• Causal gene: CFAP300 (GenCC Definitive)
• Cohort genes: 1
• ClinVar variants: 13

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ciliary dyskinesia, primary, 38
Mondo ID	MONDO:0054843
OMIM	618063
DOID	DOID:0111852
UMLS	C4748052
MedGen	1648465
GARD	0016288
Is cancer (heuristic)	no

Also known as: CILD38

Data availability: 13 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 › ciliary dyskinesia, primary, 38

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 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, 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

13 retrieved; paginated sample, class counts are floors:

6 pathogenic, 2 benign, 2 pathogenic/likely pathogenic, 2 likely pathogenic, 1 uncertain significance

ClinVar	Variant (HGVS)	Gene	Classification	Review
1676321	NM_032930.3(CFAP300):c.430C>T (p.Arg144Ter)	CFAP300	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
2719579	NM_032930.3(CFAP300):c.478C>T (p.Gln160Ter)	CFAP300	Pathogenic	criteria provided, multiple submitters, no conflicts
549858	NM_032930.3(CFAP300):c.776A>G (p.His259Arg)	CFAP300	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
549859	NM_032930.3(CFAP300):c.361C>T (p.Arg121Ter)	CFAP300	Pathogenic	criteria provided, multiple submitters, no conflicts
549860	NM_032930.3(CFAP300):c.154C>T (p.Gln52Ter)	CFAP300	Pathogenic	criteria provided, single submitter
549861	NM_032930.3(CFAP300):c.433A>T (p.Arg145Ter)	CFAP300	Pathogenic	criteria provided, single submitter
549862	NM_032930.3(CFAP300):c.198_200delinsCC (p.Phe67fs)	CFAP300	Pathogenic	criteria provided, multiple submitters, no conflicts
807552	NM_032930.3(CFAP300):c.200del (p.Phe67fs)	CFAP300	Pathogenic	criteria provided, multiple submitters, no conflicts
3024078	NM_032930.3(CFAP300):c.175A>T (p.Lys59Ter)	CFAP300	Likely pathogenic	no assertion criteria provided
3340161	NM_032930.3(CFAP300):c.353A>G (p.Asp118Gly)	CFAP300	Likely pathogenic	criteria provided, single submitter
3598846	NM_032930.3(CFAP300):c.40T>C (p.Phe14Leu)	CFAP300	Uncertain significance	criteria provided, single submitter
1178298	NM_032930.3(CFAP300):c.192+59A>C	CFAP300	Benign	criteria provided, multiple submitters, no conflicts
1192590	NM_032930.3(CFAP300):c.110+16A>G	CFAP300	Benign	criteria provided, multiple submitters, no conflicts

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
CFAP300	Definitive	Autosomal recessive	ciliary dyskinesia, primary, 38	3

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
CFAP300	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
CFAP300	HGNC:28188	ENSG00000137691	Q9BRQ4	Cilia- and flagella-associated protein 300	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
CFAP300	Cilia- and flagella-associated protein 300	Cilium- and flagellum-specific protein that plays a role in axonemal structure organization and motility.

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)
CFAP300	Other/Unknown	no		CFAP300

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
sperm	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
CFAP300	181	ubiquitous	marker	bronchial epithelial cell, bronchus, sperm

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
CFAP300	737

Structural data

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

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
CFAP300	Q9BRQ4	94.21

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 0. Enrichment computed across 1 evidence-associated genes (0 with Reactome annotation).

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
CFAP300	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	CFAP300

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)
CFAP300	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.