Ciliary dyskinesia, primary, 47, and lissencephaly

disease

On this page

Also known as CILD47

Summary

Ciliary dyskinesia, primary, 47, and lissencephaly (MONDO:0030346) is a disease caused by TP73 (GenCC Strong), with 1 cohort gene.

At a glance

Causal gene: TP73 (GenCC Strong)
Cohort genes: 1
ClinVar variants: 14

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	ciliary dyskinesia, primary, 47, and lissencephaly
Mondo ID	MONDO:0030346
OMIM	619466
UMLS	C5561951
MedGen	1794161
GARD	0025546
Is cancer (heuristic)	no

Also known as: CILD47 · ciliary dyskinesia, primary, 47, and lissencephaly

Data availability: 14 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, 47, and lissencephaly

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

14 retrieved; paginated sample, class counts are floors:

5 pathogenic, 5 uncertain significance, 3 benign, 1 likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1192318	NC_000001.11:g.3727346_3739337delinsACCCAAAG	LOC129929200	Pathogenic	no assertion criteria provided
1192319	NM_005427.4(TP73):c.1196+1G>A	TP73	Pathogenic	no assertion criteria provided
1192320	NM_005427.4(TP73):c.994C>T (p.Gln332Ter)	TP73	Pathogenic	no assertion criteria provided
1192321	NM_005427.4(TP73):c.1459del (p.Tyr487fs)	TP73	Pathogenic	no assertion criteria provided
1192322	NM_005427.4(TP73):c.613G>T (p.Glu205Ter)	TP73	Pathogenic	criteria provided, single submitter
4076273	NM_005427.4(TP73):c.453_454del (p.Tyr152fs)	TP73	Likely pathogenic	criteria provided, single submitter
1709554	NM_005427.4(TP73):c.860G>A (p.Arg287His)	LOC129929200	Uncertain significance	criteria provided, single submitter
2437187	NM_005427.4(TP73):c.1342G>A (p.Val448Met)	TP73	Uncertain significance	criteria provided, single submitter
2437188	NM_005427.4(TP73):c.1612C>T (p.Arg538Cys)	TP73	Uncertain significance	criteria provided, multiple submitters, no conflicts
2664857	NM_005427.4(TP73):c.1771C>T (p.Arg591Cys)	TP73	Uncertain significance	criteria provided, single submitter
3892698	NM_005427.4(TP73):c.1392C>T (p.Gly464=)	TP73	Uncertain significance	criteria provided, single submitter
2585655	NM_005427.4(TP73):c.-20C>T	TP73	Benign	criteria provided, single submitter
2585656	NM_005427.4(TP73):c.519C>T (p.Thr173=)	TP73	Benign	criteria provided, single submitter
2585657	NM_005427.4(TP73):c.985+15A>G	TP73	Benign	criteria provided, single submitter

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 2 · 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
TP73	Strong	Autosomal recessive	ciliary dyskinesia, primary, 47, and lissencephaly	2

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
TP73	Orphanet:70573	Small cell lung cancer

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
TP73	HGNC:12003	ENSG00000078900	O15350	Tumor protein p73	gencc,clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
TP73	Tumor protein p73	Participates in the apoptotic response to DNA damage.

Protein-family classification

Druggable: 0 · Difficult: 1 · Unknown: 0 · 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	8.3×	0.121

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
TP73	Transcription factor	no		SAM, p53_tumour_suppressor, p53-like_TF_DNA-bd_sf

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
olfactory segment of nasal mucosa	1
pancreatic ductal cell	1
right uterine tube	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
TP73	132	broad	marker	right uterine tube, olfactory segment of nasal mucosa, pancreatic ductal cell

Protein interactions among cohort

Intra-cohort edges: 0.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TP73	2,320

Structural data

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

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
TP73	O15350	28

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 7. Enrichment computed across 1 evidence-associated genes (1 with Reactome annotation).

Pathways 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.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Activation of PUMA and translocation to mitochondria	1	1142.0×	0.002	TP73
TP53 Regulates Transcription of Caspase Activators and Caspases	1	951.7×	0.002	TP73
TP53 Regulates Transcription of Death Receptors and Ligands	1	951.7×	0.002	TP73
Regulation of TP53 Activity through Association with Co-factors	1	815.7×	0.002	TP73
TP53 regulates transcription of several additional cell death genes whose specific roles in p53-dependent apoptosis remain uncertain	1	761.3×	0.002	TP73
TP53 Regulates Transcription of Genes Involved in Cytochrome C Release	1	543.8×	0.002	TP73
RUNX1 regulates transcription of genes involved in differentiation of HSCs	1	95.2×	0.011	TP73

GO biological processes by enrichment

GO term	Cohort genes	Fold	FDR	Sample cohort genes
positive regulation of lung ciliated cell differentiation	1	8426.0×	0.002	TP73
positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1	8426.0×	0.002	TP73
cerebrospinal fluid secretion	1	4213.0×	0.002	TP73
negative regulation of cardiac muscle cell proliferation	1	1872.4×	0.004	TP73
positive regulation of cell size	1	1296.3×	0.004	TP73
digestive tract morphogenesis	1	991.3×	0.005	TP73
release of cytochrome c from mitochondria	1	702.2×	0.005	TP73
positive regulation of oligodendrocyte differentiation	1	674.1×	0.005	TP73
mismatch repair	1	648.1×	0.005	TP73
protein tetramerization	1	624.1×	0.005	TP73
intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	1	495.6×	0.005	TP73
intrinsic apoptotic signaling pathway in response to DNA damage	1	324.1×	0.007	TP73
negative regulation of neuron differentiation	1	271.8×	0.008	TP73
neuron development	1	255.3×	0.008	TP73
regulation of mitotic cell cycle	1	240.7×	0.008	TP73
hippocampus development	1	230.8×	0.008	TP73
post-embryonic development	1	205.5×	0.008	TP73
kidney development	1	140.4×	0.011	TP73
negative regulation of neuron apoptotic process	1	110.9×	0.014	TP73
regulation of gene expression	1	83.4×	0.016	TP73
regulation of apoptotic process	1	83.4×	0.016	TP73
positive regulation of MAPK cascade	1	80.6×	0.016	TP73
regulation of cell cycle	1	74.6×	0.017	TP73
response to xenobiotic stimulus	1	69.1×	0.017	TP73
DNA damage response	1	53.5×	0.022	TP73
negative regulation of cell population proliferation	1	42.1×	0.026	TP73
inflammatory response	1	37.7×	0.028	TP73
positive regulation of DNA-templated transcription	1	27.9×	0.037	TP73
positive regulation of transcription by RNA polymerase II	1	14.9×	0.067	TP73

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
TP73	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	TP73

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)
TP73	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 0.

Cohort genes: TP73