Multicystic dysplastic kidney
disease diseaseOn this page
Also known as MCDKmulticystic renal dysplasia
Summary
Multicystic dysplastic kidney (MONDO:0015988) is a disease with 9 cohort genes and 3 clinical trials.
At a glance
- Prevalence: Unknown (Worldwide) [Orphanet-validated]
- Cohort genes: 9
- ClinVar variants: 10
- Phenotypes (HPO): 15
- Clinical trials: 3
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Prevalence at birth | 1-5 / 10 000 | 23.26 | Worldwide | Validated |
Signs & symptoms
Clinical features (HPO)
15 HPO clinical features (Orphanet curated; top 15 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0000003 | Multicystic kidney dysplasia | Very frequent (80-99%) |
| HP:0002643 | Neonatal respiratory distress | Very frequent (80-99%) |
| HP:0001622 | Premature birth | Frequent (30-79%) |
| HP:0003270 | Abdominal distention | Frequent (30-79%) |
| HP:0031500 | Abdominal mass | Frequent (30-79%) |
| HP:0000028 | Cryptorchidism | Occasional (5-29%) |
| HP:0000076 | Vesicoureteral reflux | Occasional (5-29%) |
| HP:0000105 | Enlarged kidney | Occasional (5-29%) |
| HP:0000122 | Unilateral renal agenesis | Occasional (5-29%) |
| HP:0001562 | Oligohydramnios | Occasional (5-29%) |
| HP:0000070 | Ureterocele | Very rare (<1-4%) |
| HP:0000074 | Ureteropelvic junction obstruction | Very rare (<1-4%) |
| HP:0000085 | Horseshoe kidney | Very rare (<1-4%) |
| HP:0000822 | Hypertension | Very rare (<1-4%) |
| HP:0030735 | Ureterovesical junction obstruction | Very rare (<1-4%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | multicystic dysplastic kidney |
| Mondo ID | MONDO:0015988 |
| MeSH | D021782 |
| Orphanet | 1851 |
| ICD-11 | 1178642763 |
| NCIT | C123031 |
| SNOMED CT | 204962002 |
| UMLS | C3714581 |
| MedGen | 811388 |
| GARD | 0018748 |
| Is cancer (heuristic) | no |
Also known as: MCDK · multicystic renal dysplasia
Data availability: 10 ClinVar variants.
Disease family
An umbrella term covering 2 Mondo subtypes.
Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › cystic kidney disease › multicystic dysplastic kidney
Related subtypes (3): non-congenital cyst of kidney, medullary sponge kidney, familial cystic renal disease
Subtypes (2): unilateral multicystic dysplastic kidney, bilateral multicystic dysplastic kidney
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
10 retrieved; paginated sample, class counts are floors:
3 uncertain significance, 2 pathogenic, 2 conflicting classifications of pathogenicity, 2 likely pathogenic, 1 pathogenic/likely pathogenic
| ClinVar | Variant (HGVS) | Gene | Classification | Review |
|---|---|---|---|---|
| 523524 | NM_170784.3(MKKS):c.958_959del (p.Leu320fs) | MKKS | Pathogenic/Likely pathogenic | criteria provided, multiple submitters, no conflicts |
| 523354 | NM_000297.4(PKD2):c.2284_2287del (p.Tyr762fs) | PKD2 | Pathogenic | criteria provided, single submitter |
| 1804040 | NM_020706.2(SCAF4):c.1295_1296del (p.Arg432fs) | SCAF4 | Pathogenic | criteria provided, single submitter |
| 632606 | NM_017412.4(FZD3):c.1616dup (p.Asp539fs) | FZD3 | Likely pathogenic | no assertion criteria provided |
| 632604 | NM_012310.5(KIF4A):c.794G>T (p.Arg265Leu) | KIF4A | Likely pathogenic | no assertion criteria provided |
| 977155 | NM_001429.4(EP300):c.1781C>T (p.Thr594Met) | EP300 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 523387 | NM_001009944.3(PKD1):c.5896GTG[1] (p.Val1967del) | PKD1 | Conflicting classifications of pathogenicity | criteria provided, conflicting classifications |
| 267928 | 46;Y;inv(X)(p11.2q28)mat | Uncertain significance | criteria provided, single submitter | |
| 523520 | NM_017777.4(MKS1):c.1274-3C>T | MKS1 | Uncertain significance | criteria provided, single submitter |
| 374206 | NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) | PKD1 | Uncertain significance | criteria provided, multiple submitters, no conflicts |
Genes & proteins
Mendelian disease overlap and somatic drivers
GenCC: 0 · Orphanet: 13 · OMIM-shared: 0 · Dual-evidence (GWAS+Mendelian): 0
Orphanet rare-disease linkage (cohort genes)
| Gene | Orphanet ID | Rare disease |
|---|---|---|
| SCAF4 | Orphanet:528084 | Non-specific syndromic intellectual disability |
| EP300 | Orphanet:353284 | Rubinstein-Taybi syndrome due to EP300 haploinsufficiency |
| MKKS | Orphanet:110 | Bardet-Biedl syndrome |
| MKKS | Orphanet:2473 | McKusick-Kaufman syndrome |
| MKS1 | Orphanet:110 | Bardet-Biedl syndrome |
| MKS1 | Orphanet:220493 | Joubert syndrome with ocular defect |
| MKS1 | Orphanet:475 | Isolated Joubert syndrome |
| MKS1 | Orphanet:564 | Meckel syndrome |
| PKD1 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
| PKD1 | Orphanet:88924 | Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis |
| PKD2 | Orphanet:730 | Autosomal dominant polycystic kidney disease |
| PRKD1 | Orphanet:276145 | Malignant epithelial tumor of salivary glands |
| PRKD1 | Orphanet:708019 | Congenital heart defect-ectodermal dysplasia- brachydactyly-telangiectasia syndrome |
Cohort genes → proteins
9 cohort genes, 9 distinct canonical proteins.
Evidence partition
| Subset | Genes |
|---|---|
| multi_evidence | 9 |
Cohort genes (full)
| Symbol | HGNC | Ensembl | UniProt | Name | Evidence |
|---|---|---|---|---|---|
| KIF4A | HGNC:13339 | ENSG00000090889 | O95239 | Chromosome-associated kinesin KIF4A | clinvar |
| SCAF4 | HGNC:19304 | ENSG00000156304 | O95104 | SR-related and CTD-associated factor 4 | clinvar |
| EP300 | HGNC:3373 | ENSG00000100393 | Q09472 | Histone acetyltransferase p300 | clinvar |
| FZD3 | HGNC:4041 | ENSG00000104290 | Q9NPG1 | Frizzled-3 | clinvar |
| MKKS | HGNC:7108 | ENSG00000125863 | Q9NPJ1 | Molecular chaperone MKKS | clinvar |
| MKS1 | HGNC:7121 | ENSG00000011143 | Q9NXB0 | Tectonic-like complex member MKS1 | clinvar |
| PKD1 | HGNC:9008 | ENSG00000008710 | P98161 | Polycystin-1 | clinvar |
| PKD2 | HGNC:9009 | ENSG00000118762 | Q13563 | Polycystin-2 | clinvar |
| PRKD1 | HGNC:9407 | ENSG00000184304 | Q15139 | Serine/threonine-protein kinase D1 | clinvar |
Cohort function summary
Lead sentence per gene, UniProt-curated.
| Symbol | Protein name | Function (lead sentence) |
|---|---|---|
| KIF4A | Chromosome-associated kinesin KIF4A | Iron-sulfur (Fe-S) cluster binding motor protein that has a role in chromosome segregation during mitosis. |
| SCAF4 | SR-related and CTD-associated factor 4 | Anti-terminator protein required to prevent early mRNA termination during transcription. |
| EP300 | Histone acetyltransferase p300 | Functions as a histone acetyltransferase and regulates transcription via chromatin remodeling. |
| FZD3 | Frizzled-3 | Receptor for Wnt proteins. |
| MKKS | Molecular chaperone MKKS | Probable molecular chaperone that assists the folding of proteins upon ATP hydrolysis. |
| MKS1 | Tectonic-like complex member MKS1 | Component of the tectonic-like complex, a complex localized at the transition zone of primary cilia and acting as a barrier that prevents diffusion of transmembrane proteins between the cilia and plasma membranes. |
| PKD1 | Polycystin-1 | Component of a heteromeric calcium-permeable ion channel formed by PKD1 and PKD2 that is activated by interaction between PKD1 and a Wnt family member, such as WNT3A and WNT9B. |
| PKD2 | Polycystin-2 | Forms a nonselective cation channel. |
| PRKD1 | Serine/threonine-protein kinase D1 | Serine/threonine-protein kinase that converts transient diacylglycerol (DAG) signals into prolonged physiological effects downstream of PKC, and is involved in the regulation of MAPK8/JNK1 and Ras signaling, Golgi membrane integrity and tr… |
Protein-family classification
Druggable: 3 · Difficult: 1 · Unknown: 5 · Druggable fraction: 0.33
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 |
|---|---|---|---|
| Antibody/Immunoglobulin | 1 | 3.2× | 0.532 |
| Kinase | 1 | 3.1× | 0.532 |
| GPCR | 1 | 2.7× | 0.532 |
| Other/Unknown | 5 | 1.0× | 0.687 |
| Transcription factor | 1 | 0.9× | 0.687 |
Per-gene assignment
| Symbol | Family | Druggable? | EC | InterPro (top 3) |
|---|---|---|---|---|
| KIF4A | Other/Unknown | no | Kinesin_motor_dom, Kinesin_motor_CS, P-loop_NTPase | |
| SCAF4 | Other/Unknown | no | RRM_dom, CID_dom, ENTH_VHS | |
| EP300 | Transcription factor | no | 2.3.1.48 | Znf_TAZ, Znf_ZZ, Bromodomain |
| FZD3 | GPCR | yes | Frizzled/Smoothened_7TM, Frizzled/SFRP, GPCR_2-like_7TM | |
| MKKS | Other/Unknown | no | Cpn60/GroEL/TCP-1, GroEL-like_apical_dom_sf, TCP-1-like_intermed_sf | |
| MKS1 | Other/Unknown | no | C2_B9-type_dom | |
| PKD1 | Antibody/Immunoglobulin | yes | GPS, LRRNT, PC1 | |
| PKD2 | Other/Unknown | no | EF_hand_dom, PKD_2, EF-hand-dom_pair | |
| PRKD1 | Kinase | yes | 2.7.11.13 | Prot_kinase_dom, PH_domain, PKC_DAG/PE |
Expression context
Cohort genes with no expression data: 0.
9 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) | 9 |
| unknown | 0 |
Top tissues across cohort
| Tissue | Cohort genes |
|---|---|
| secondary oocyte | 2 |
| ventricular zone | 2 |
| oocyte | 1 |
| buccal mucosa cell | 1 |
| sperm | 1 |
| tendon of biceps brachii | 1 |
| adrenal tissue | 1 |
| bone marrow cell | 1 |
| colonic epithelium | 1 |
| Brodmann (1909) area 23 | 1 |
| corpus epididymis | 1 |
| endothelial cell | 1 |
| middle temporal gyrus | 1 |
| prefrontal cortex | 1 |
| left ovary | 1 |
| olfactory segment of nasal mucosa | 1 |
| right uterine tube | 1 |
| cerebellar cortex | 1 |
| cerebellar hemisphere | 1 |
| right hemisphere of cerebellum | 1 |
Per-gene tissue summary (top 30)
| Symbol | Bgee breadth | FANTOM5 breadth | SCXA | Top tissues |
|---|---|---|---|---|
| KIF4A | 179 | broad | marker | oocyte, secondary oocyte, ventricular zone |
| SCAF4 | 267 | ubiquitous | marker | tendon of biceps brachii, buccal mucosa cell, sperm |
| EP300 | 292 | ubiquitous | marker | colonic epithelium, adrenal tissue, bone marrow cell |
| FZD3 | 257 | ubiquitous | marker | Brodmann (1909) area 23, secondary oocyte, corpus epididymis |
| MKKS | 277 | ubiquitous | marker | middle temporal gyrus, endothelial cell, prefrontal cortex |
| MKS1 | 182 | ubiquitous | marker | right uterine tube, olfactory segment of nasal mucosa, left ovary |
| PKD1 | 290 | marker | right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex | |
| PKD2 | 288 | ubiquitous | marker | blood vessel layer, calcaneal tendon, saphenous vein |
| PRKD1 | 239 | ubiquitous | marker | ventricular zone, seminal vesicle, thoracic aorta |
Protein interactions among cohort
Intra-cohort edges: 3.
Hub genes (top 10 by interactor count)
| Symbol | Interactor count |
|---|---|
| EP300 | 10,122 |
| MKKS | 2,728 |
| PRKD1 | 2,131 |
| SCAF4 | 2,068 |
| KIF4A | 1,982 |
| PKD2 | 1,644 |
| FZD3 | 1,413 |
| PKD1 | 1,370 |
| MKS1 | 1,087 |
Intra-cohort edges
| A | B | Sources |
|---|---|---|
| PKD1 | PKD2 | biogrid_interaction, intact, string_interaction |
| PKD1 | PRKD1 | string_interaction |
| PKD2 | PRKD1 | string_interaction |
Structural data
PDB: 6 · AlphaFold-only: 3 · No structure: 0
Cohort genes with PDB structures (top 30)
| Symbol | UniProt | PDB entries |
|---|---|---|
| EP300 | Q09472 | 60 |
| PKD2 | Q13563 | 31 |
| PKD1 | P98161 | 13 |
| FZD3 | Q9NPG1 | 4 |
| KIF4A | O95239 | 1 |
| SCAF4 | O95104 | 1 |
AlphaFold-only cohort genes (top 30 by pLDDT)
| Symbol | UniProt | pLDDT |
|---|---|---|
| MKKS | Q9NPJ1 | 89.05 |
| MKS1 | Q9NXB0 | 74.05 |
| PRKD1 | Q15139 | 68.99 |
Function
Pathway analysis
Distinct Reactome pathways touched by cohort: 95. Enrichment computed across 9 evidence-associated genes (8 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 8 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| Pathway | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| VxPx cargo-targeting to cilium | 2 | 129.8× | 0.009 | PKD1, PKD2 |
| LRR FLII-interacting protein 1 (LRRFIP1) activates type I IFN production | 1 | 285.5× | 0.047 | EP300 |
| NFE2L2 regulating inflammation associated genes | 1 | 285.5× | 0.047 | EP300 |
| NFE2L2 regulating ER-stress associated genes | 1 | 285.5× | 0.047 | EP300 |
| NFE2L2 regulates pentose phosphate pathway genes | 1 | 178.4× | 0.047 | EP300 |
| NFE2L2 regulating MDR associated enzymes | 1 | 178.4× | 0.047 | EP300 |
| Regulation of NFE2L2 gene expression | 1 | 178.4× | 0.047 | EP300 |
| PI5P Regulates TP53 Acetylation | 1 | 158.6× | 0.047 | EP300 |
| RUNX3 regulates p14-ARF | 1 | 142.8× | 0.047 | EP300 |
| Regulation of FOXO transcriptional activity by acetylation | 1 | 142.8× | 0.047 | EP300 |
| STAT3 nuclear events downstream of ALK signaling | 1 | 129.8× | 0.047 | EP300 |
| Regulation of gene expression by Hypoxia-inducible Factor | 1 | 119.0× | 0.047 | EP300 |
| NOTCH2 intracellular domain regulates transcription | 1 | 119.0× | 0.047 | EP300 |
| Activation of the TFAP2 (AP-2) family of transcription factors | 1 | 119.0× | 0.047 | EP300 |
| NFE2L2 regulating tumorigenic genes | 1 | 119.0× | 0.047 | EP300 |
| Cilium Assembly | 2 | 27.2× | 0.047 | MKKS, MKS1 |
| Organelle biogenesis and maintenance | 2 | 16.5× | 0.047 | MKKS, MKS1 |
| RUNX3 regulates NOTCH signaling | 1 | 102.0× | 0.049 | EP300 |
| TRAF3-dependent IRF activation pathway | 1 | 95.2× | 0.049 | EP300 |
| Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells | 1 | 89.2× | 0.049 | EP300 |
| FOXO-mediated transcription of cell death genes | 1 | 89.2× | 0.049 | EP300 |
| SARS-CoV-1 targets host intracellular signalling and regulatory pathways | 1 | 84.0× | 0.049 | EP300 |
| Zygotic genome activation (ZGA) | 1 | 84.0× | 0.049 | EP300 |
| Polo-like kinase mediated events | 1 | 79.3× | 0.050 | EP300 |
| TP53 Regulates Transcription of Genes Involved in G2 Cell Cycle Arrest | 1 | 75.1× | 0.050 | EP300 |
| NOTCH4 Intracellular Domain Regulates Transcription | 1 | 71.4× | 0.050 | EP300 |
| Regulation of TP53 Activity through Methylation | 1 | 68.0× | 0.050 | EP300 |
| NFE2L2 regulating anti-oxidant/detoxification enzymes | 1 | 68.0× | 0.050 | EP300 |
| CD209 (DC-SIGN) signaling | 1 | 64.9× | 0.050 | EP300 |
| BBSome-mediated cargo-targeting to cilium | 1 | 62.1× | 0.051 | MKKS |
GO biological processes by enrichment
Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 9 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.
| GO term | Cohort genes | Fold | FDR | Sample cohort genes |
|---|---|---|---|---|
| mesonephric tubule development | 2 | 1872.4× | 7e-05 | PKD1, PKD2 |
| metanephric ascending thin limb development | 2 | 936.2× | 2e-04 | PKD1, PKD2 |
| mesonephric duct development | 2 | 749.0× | 2e-04 | PKD1, PKD2 |
| heart development | 4 | 35.0× | 2e-04 | EP300, MKKS, PKD1, PKD2 |
| determination of left/right symmetry | 3 | 85.1× | 2e-04 | MKKS, MKS1, PKD2 |
| placenta blood vessel development | 2 | 312.1× | 7e-04 | PKD1, PKD2 |
| detection of mechanical stimulus | 2 | 267.5× | 8e-04 | PKD1, PKD2 |
| protein heterotetramerization | 2 | 234.1× | 1e-03 | PKD1, PKD2 |
| embryonic placenta development | 2 | 170.2× | 0.002 | PKD1, PKD2 |
| branching morphogenesis of an epithelial tube | 2 | 162.8× | 0.002 | MKS1, PKD1 |
| neural tube development | 2 | 117.0× | 0.003 | PKD1, PKD2 |
| spinal cord development | 2 | 113.5× | 0.003 | PKD1, PKD2 |
| positive regulation of protein import into nucleus | 2 | 93.6× | 0.004 | EP300, PRKD1 |
| behavioral defense response | 1 | 1872.4× | 0.005 | EP300 |
| smoothened signaling pathway involved in regulation of secondary heart field cardioblast proliferation | 1 | 1872.4× | 0.005 | MKS1 |
| negative regulation of protein oligomerization | 1 | 1872.4× | 0.005 | EP300 |
| swimming | 1 | 1872.4× | 0.005 | EP300 |
| peptidyl-lysine propionylation | 1 | 1872.4× | 0.005 | EP300 |
| metanephric cortex development | 1 | 1872.4× | 0.005 | PKD2 |
| metanephric cortical collecting duct development | 1 | 1872.4× | 0.005 | PKD2 |
| metanephric distal tubule development | 1 | 1872.4× | 0.005 | PKD2 |
| metanephric distal tubule morphogenesis | 1 | 1872.4× | 0.005 | PKD1 |
| regulation of tubulin deacetylation | 1 | 1872.4× | 0.005 | EP300 |
| peptidyl-lysine crotonylation | 1 | 1872.4× | 0.005 | EP300 |
| peptidyl-lysine butyrylation | 1 | 1872.4× | 0.005 | EP300 |
| cell surface receptor signaling pathway via JAK-STAT | 2 | 64.6× | 0.005 | PKD1, PKD2 |
| non-motile cilium assembly | 2 | 64.6× | 0.005 | MKKS, MKS1 |
| heart looping | 2 | 59.4× | 0.005 | MKKS, PKD2 |
| cartilage development | 2 | 55.9× | 0.005 | MKKS, PKD1 |
| liver development | 2 | 49.3× | 0.006 | PKD1, PKD2 |
Therapeutics
Drug target analysis
Approved (phase 4): 1 · Phase ≥3: 2 · Phased (≥1): 2 · Undrugged: 7
Druggability breadth: 5 of 9 evidence-associated genes (56%) have a ChEMBL target (buckets above are over the deeply-mined display cohort).
Genes with an approved drug
The molecule shown is one approved compound that hits the gene — not necessarily a drug of choice or one indicated for this disease.
| Symbol | Example approved molecule |
|---|---|
| PRKD1 | INGENOL MEBUTATE |
Top cohort targets by molecule count
| Symbol | Molecules | Max phase |
|---|---|---|
| PRKD1 | 26 | 4 |
| EP300 | 9 | 3 |
| KIF4A | 0 | 0 |
| SCAF4 | 0 | 0 |
| FZD3 | 0 | 0 |
| MKKS | 0 | 0 |
| MKS1 | 0 | 0 |
| PKD1 | 0 | 0 |
| PKD2 | 0 | 0 |
Drugs targeting cohort genes (top 30)
| Molecule | Max phase | Targets in cohort |
|---|---|---|
| INGENOL MEBUTATE | 4 | PRKD1 |
| MIDOSTAURIN | 4 | PRKD1 |
| TAMOXIFEN | 4 | PRKD1 |
| NERATINIB | 4 | PRKD1 |
| BRIGATINIB | 4 | PRKD1 |
| NINTEDANIB | 4 | PRKD1 |
| SUNITINIB | 4 | PRKD1 |
| CRIZOTINIB | 4 | PRKD1 |
| GEFITINIB | 4 | PRKD1 |
| COENZYME_A | 3 | EP300 |
| CURCUMIN | 3 | EP300 |
| EPIGALOCATECHIN GALLATE | 3 | EP300 |
| SURAMIN | 3 | PRKD1 |
| FASUDIL | 3 | PRKD1 |
| ALVOCIDIB | 3 | PRKD1 |
| LESTAURTINIB | 3 | PRKD1 |
| MOLIBRESIB | 2 | EP300 |
| MIVEBRESIB | 2 | EP300 |
| STREPTONIGRIN | 2 | EP300 |
| PHORBOL MYRISTATE ACETATE | 2 | PRKD1 |
| EDELFOSINE | 2 | PRKD1 |
| UPROSERTIB | 2 | PRKD1 |
| UCN-01 | 2 | PRKD1 |
| SU-014813 | 2 | PRKD1 |
| AT-9283 | 2 | PRKD1 |
| BI-2536 | 2 | PRKD1 |
| BERBERINE CHLORIDE | 1 | EP300 |
| PLUMBAGIN | 1 | EP300 |
| INOBRODIB | 1 | EP300 |
| KW-2449 | 1 | PRKD1 |
Bioactivity and enzyme data
Enzyme cohort genes (≥1 EC): 2.
Cohort genes with ChEMBL bioactivity (full, sorted by assay count)
| Symbol | Assays | Type breakdown |
|---|---|---|
| EP300 | 767 | Binding:763, Functional:3, ADMET:1 |
| PRKD1 | 660 | Binding:650, Functional:10 |
| PKD1 | 27 | Binding:27 |
| KIF4A | 20 | Binding:20 |
| PKD2 | 12 | Binding:12 |
Cohort enzymes (BRENDA EC)
| Symbol | EC numbers | Names |
|---|---|---|
| EP300 | 2.3.1.48 | histone acetyltransferase |
| PRKD1 | 2.7.11.13 | protein kinase C |
Cohort genes with high screening signal
≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.
| Symbol | ChEMBL assays |
|---|---|
| EP300 | 767 |
| PRKD1 | 660 |
Pharmacogenomics
Cohort genes with a PharmGKB record: 9; with CPIC/DPWG dosing guidelines: 0.
No cohort gene has a CPIC/DPWG genotype-guided dosing guideline (PharmGKB).
Chemical tractability of cohort targets
30 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.
| Compound | Max phase | Cohort target (bioactivity) |
|---|---|---|
| INGENOL MEBUTATE | 4 | PRKD1 |
| MIDOSTAURIN | 4 | PRKD1 |
| TAMOXIFEN | 4 | PRKD1 |
| NERATINIB | 4 | PRKD1 |
| BRIGATINIB | 4 | PRKD1 |
| NINTEDANIB | 4 | PRKD1 |
| SUNITINIB | 4 | PRKD1 |
| CRIZOTINIB | 4 | PRKD1 |
| GEFITINIB | 4 | PRKD1 |
| COENZYME_A | 3 | EP300 |
| CURCUMIN | 3 | EP300 |
| EPIGALOCATECHIN GALLATE | 3 | EP300 |
| SURAMIN | 3 | PRKD1 |
| FASUDIL | 3 | PRKD1 |
| ALVOCIDIB | 3 | PRKD1 |
| LESTAURTINIB | 3 | PRKD1 |
| MOLIBRESIB | 2 | EP300 |
| MIVEBRESIB | 2 | EP300 |
| STREPTONIGRIN | 2 | EP300 |
| PHORBOL MYRISTATE ACETATE | 2 | PRKD1 |
| EDELFOSINE | 2 | PRKD1 |
| UPROSERTIB | 2 | PRKD1 |
| UCN-01 | 2 | PRKD1 |
| SU-014813 | 2 | PRKD1 |
| AT-9283 | 2 | PRKD1 |
| BI-2536 | 2 | PRKD1 |
| BERBERINE CHLORIDE | 1 | EP300 |
| PLUMBAGIN | 1 | EP300 |
| INOBRODIB | 1 | EP300 |
| KW-2449 | 1 | PRKD1 |
Druggability pyramid
Cohort genes binned by druggability tier (high → low):
| Tier | Definition | Genes | Symbols |
|---|---|---|---|
| A | Approved (phase 4 drug) | 1 | PRKD1 |
| B | Phased (≥1) drug, not yet approved | 1 | EP300 |
| C | Druggable family + PDB, no drug | 2 | FZD3, PKD1 |
| D | Druggable family + AlphaFold only, no drug | 0 | |
| E | Difficult family or no structure, no drug | 5 | KIF4A, SCAF4, MKKS, MKS1, PKD2 |
Undrugged target profiles
7 cohort genes are undrugged. Ranked by ‘starting-point quality’ (assay depth + drugged-partner adjacency).
| Symbol | ChEMBL assays | Drugged partners (top 3) |
|---|---|---|
| PKD1 | 27 | PRKD1 |
| KIF4A | 20 | — |
| SCAF4 | 0 | — |
| FZD3 | 0 | — |
| MKKS | 0 | — |
| MKS1 | 0 | — |
| PKD2 | 12 | — |
Clinical trials & evidence
Clinical trials
Clinical trials: 3.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 2 |
| PHASE1 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT03101891 | PHASE1 | ACTIVE_NOT_RECRUITING | Renal Anhydramnios Fetal Therapy |
| NCT06728228 | Not specified | RECRUITING | Amnioinfusion for Fetal Renal Failure |
| NCT00764543 | Not specified | NO_LONGER_AVAILABLE | Ambulatory Blood Pressure Measurement in Children With Congenital Urine Flow Obstruction |