Autosomal dominant polycystic kidney disease

Summary

Autosomal dominant polycystic kidney disease (MONDO:0004691) is a disease (an umbrella term covering 7 Mondo subtypes) caused by variants in IFT140, PKD2, and PKD1, with 21 cohort genes and 113 clinical trials. Top therapeutic interventions include tolvaptan, everolimus, and pravastatin.

At a glance

• Prevalence: 1-5 / 10 000 (Europe) [Orphanet-validated]
• Causal genes: IFT140 (GenCC Definitive), PKD2 (GenCC Definitive), PKD1 (GenCC Strong)
• Umbrella term: 7 Mondo subtypes
• Cohort genes: 21
• ClinVar variants: 1,134
• Phenotypes (HPO): 26
• Clinical trials: 113

Clinical features

Epidemiology

Prevalence records

1 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Point prevalence	1-5 / 10 000	39.6	Europe	Validated

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0000083	Renal insufficiency	Very frequent (80-99%)
HP:0000107	Renal cyst	Very frequent (80-99%)
HP:0001407	Hepatic cysts	Very frequent (80-99%)
HP:0003259	Elevated circulating creatinine concentration	Very frequent (80-99%)
HP:0012213	Decreased glomerular filtration rate	Very frequent (80-99%)
HP:0000790	Hematuria	Frequent (30-79%)
HP:0000822	Hypertension	Frequent (30-79%)
HP:0003774	Stage 5 chronic kidney disease	Frequent (30-79%)
HP:0012591	Abnormal urinary electrolyte concentration	Frequent (30-79%)
HP:0012592	Albuminuria	Frequent (30-79%)
HP:0012622	Chronic kidney disease	Frequent (30-79%)
HP:0030157	Flank pain	Frequent (30-79%)
HP:0000010	Recurrent urinary tract infections	Occasional (5-29%)
HP:0000105	Enlarged kidney	Occasional (5-29%)
HP:0000791	Uric acid nephrolithiasis	Occasional (5-29%)
HP:0001634	Mitral valve prolapse	Occasional (5-29%)
HP:0001737	Pancreatic cysts	Occasional (5-29%)
HP:0002616	Aortic root aneurysm	Occasional (5-29%)
HP:0004944	Dilatation of the cerebral artery	Occasional (5-29%)
HP:0006557	Polycystic liver disease	Occasional (5-29%)
HP:0008672	Calcium oxalate nephrolithiasis	Occasional (5-29%)
HP:0011004	Abnormal systemic arterial morphology	Occasional (5-29%)
HP:0012207	Reduced sperm motility	Occasional (5-29%)
HP:0012330	Pyelonephritis	Occasional (5-29%)
HP:0100702	Arachnoid cyst	Occasional (5-29%)
HP:0011760	Pituitary growth hormone cell adenoma	Very rare (<1-4%)

Identifiers

Disease identifiers

Field	Value
Canonical name	autosomal dominant polycystic kidney disease
Mondo ID	MONDO:0004691
EFO	EFO:1001496
MeSH	D016891
Orphanet	730
DOID	DOID:898
ICD-11	91220434
NCIT	C84578
SNOMED CT	765330003
UMLS	C0085413
MedGen	88404
NORD	828
Is cancer (heuristic)	no

Also known as: ADPKD · autosomal dominant polycystic kidney disease · polycystic kidney disease, autosomal dominant

Data availability: 1,134 ClinVar variants · 10 GenCC gene-disease records · 50 cell lines.

Disease family

An umbrella term covering 7 Mondo subtypes.

Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › autosomal genetic disease › autosomal dominant disease › autosomal dominant polycystic kidney disease

Related subtypes (191): autosomal dominant polycystic liver disease, cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1, tuberous sclerosis, Treacher-Collins syndrome, hereditary breast ovarian cancer syndrome, Lynch syndrome, branchio-oto-renal syndrome, autosomal dominant Aarskog syndrome, acroosteolysis dominant type, ADULT syndrome, autosomal dominant Alport syndrome, amelogenesis imperfecta type 1B, Townes-Brocks syndrome, nevoid basal cell carcinoma syndrome, blepharophimosis, ptosis, and epicanthus inversus syndrome, autosomal dominant brachyolmia, branchiooculofacial syndrome, pheochromocytoma/paraganglioma syndrome 4, cataract-aberrant oral frenula-growth delay syndrome, cherubism, autosomal dominant chondrodysplasia punctata, autosomal dominant popliteal pterygium syndrome, blepharocheilodontic syndrome, cochleosaccular degeneration-cataract syndrome, renal coloboma syndrome, Beare-Stevenson cutis gyrata syndrome, autosomal dominant vibratory urticaria, neurohypophyseal diabetes insipidus, autosomal dominant Kenny-Caffey syndrome, Rapp-Hodgkin syndrome, Ehlers-Danlos syndrome, classic type, autosomal dominant Ehlers-Danlos syndrome, vascular type, multiple endocrine neoplasia type 1, Coffin-Siris syndrome 1, isolated congenital adermatoglyphia, Flynn-Aird syndrome, Frasier syndrome, hand-foot-genital syndrome, Holt-Oram syndrome, hyperkeratosis-hyperpigmentation syndrome, autosomal dominant ichthyosis vulgaris, hyper-IgE recurrent infection syndrome 1, autosomal dominant, autosomal dominant keratitis, autosomal dominant keratitis-ichthyosis-hearing loss syndrome, LADD syndrome, trichorhinophalangeal syndrome type II, Noonan syndrome with multiple lentigines, microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability, Marfan syndrome, melanoma, cutaneous malignant, susceptibility to, 2, autosomal dominant primary microcephaly, autosomal dominant progressive external ophthalmoplegia, monilethrix, Muir-Torre syndrome, autosomal dominant myoglobinuria, autosomal dominant centronuclear myopathy, nail-patella syndrome, multiple endocrine neoplasia type 2B, autosomal dominant omodysplasia, pheochromocytoma/paraganglioma syndrome 1, Pelger-Huet anomaly, multiple endocrine neoplasia type 2A, piebaldism, autosomal dominant medullary cystic kidney disease with or without hyperuricemia, generalized juvenile polyposis/juvenile polyposis coli, juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Peutz-Jeghers syndrome, contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A, autosomal dominant distal renal tubular acidosis, retinoschisis, autosomal dominant, autosomal dominant Robinow syndrome, scapuloperoneal spinal muscular atrophy, autosomal dominant, autosomal dominant sideroblastic anemia, spondyloepiphyseal dysplasia tarda, autosomal dominant, proximal symphalangism, calcaneonavicular coalition, thanatophoric dysplasia type 1, trichorhinophalangeal syndrome type I, Muckle-Wells syndrome, autosomal dominant hypophosphatemic rickets, von Hippel-Lindau disease, Denys-Drash syndrome, autosomal dominant severe congenital neutropenia, Costello syndrome, EEC syndrome, multiple cutaneous and mucosal venous malformations, diffuse nonepidermolytic palmoplantar keratoderma, Timothy syndrome, pheochromocytoma/paraganglioma syndrome 2, spondyloepimetaphyseal dysplasia with multiple dislocations, Brooke-Spiegler syndrome, macrocephaly-autism syndrome, pheochromocytoma/paraganglioma syndrome 3, Duane-radial ray syndrome, PCWH syndrome, heart-hand syndrome, Slovenian type, congenital stationary night blindness autosomal dominant 3, mandibulofacial dysostosis-microcephaly syndrome, multiple endocrine neoplasia type 4, juvenile cataract-microcornea-renal glucosuria syndrome, Crouzon syndrome-acanthosis nigricans syndrome, Birk-Barel syndrome, thrombophilia due to protein S deficiency, autosomal dominant, dyskeratosis congenita, autosomal dominant 2, dyskeratosis congenita, autosomal dominant 3, colorectal cancer, hereditary nonpolyposis, type 6, colorectal cancer, hereditary nonpolyposis, type 7, brain small vessel disease 2A, autosomal dominant, intellectual disability, autosomal dominant 14, intellectual disability, autosomal dominant 15, intellectual disability, autosomal dominant 16, hypopigmentation-punctate palmoplantar keratoderma syndrome, intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, intellectual disability, autosomal dominant 29, intellectual disability, autosomal dominant 30, Houge-Janssens syndrome 2, severe achondroplasia-developmental delay-acanthosis nigricans syndrome, dyskeratosis congenita, autosomal dominant 6, epidermolysis bullosa simplex 6, generalized, with scarring and hair loss, autosomal dominant complex spastic paraplegia, early-onset autosomal dominant Alzheimer disease, muscular dystrophy, limb-girdle, autosomal dominant, Feingold syndrome, Carney complex, neuronopathy, distal hereditary motor, autosomal dominant, autosomal dominant coarctation of aorta, autosomal dominant spondylocostal dysostosis, autosomal dominant hypohidrotic ectodermal dysplasia, Cowden disease, autosomal dominant distal myopathy, autosomal dominant rhegmatogenous retinal detachment, palmoplantar keratoderma-spastic paralysis syndrome, Alagille syndrome due to a JAG1 point mutation, PTEN hamartoma tumor syndrome, gastric adenocarcinoma and proximal polyposis of the stomach, autosomal dominant proximal renal tubular acidosis, autosomal dominant spastic ataxia, Waardenburg syndrome, hereditary retinoblastoma, autosomal dominant hypocalcemia, Li-Fraumeni syndrome, Loeys-Dietz syndrome, hereditary hemorrhagic telangiectasia, hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome, microcephalic osteodysplastic dysplasia, Saul-Wilson type, autosomal dominant intermediate Charcot-Marie-Tooth disease, autosomal dominant cutis laxa, autosomal dominant nonsyndromic hearing loss, autosomal dominant optic atrophy, autosomal dominant Emery-Dreifuss muscular dystrophy, autosomal dominant cerebellar ataxia, autosomal dominant osteopetrosis, autosomal dominant epidermolytic ichthyosis, ventricular arrhythmias due to cardiac ryanodine receptor calcium release deficiency syndrome, distal arthrogryposis type 2B1, neurofibromatosis, autosomal dominant cataract, arthrogryposis, distal, type 2B2, arthrogryposis, distal, type 2B3, Charcot-Marie-Tooth disease, demyelinating, type 1G, Delpire-McNeill syndrome, LAMA5-related multisystemic syndrome, autosomal dominant oculocutaneous albinism, Charcot-Marie-tooth disease, axonal, type 2DD, Pilarowski-Bjornsson syndrome, intellectual disability, autosomal dominant, fatty acyl-CoA reductase 1 upregulation, GUCY2D-related dominant retinopathy, RPE65-related dominant retinopathy, autosomal dominant titinopathy, NOG-related symphalangism spectrum disorder, ALPL-related autosomal dominant hypophosphatasia, MYH10-related neurodevelopmental disorder with congenital anomalies, spastic paraplegia 30A, autosomal dominant, TMEM127-related tumor predisposition, MAX-related tumor predisposition, BMPR1A-related juvenile polyposis syndrome, RP1-related dominant retinopathy, Birt-Hogg-Dube syndrome, inclusion body myopathy and brain white matter abnormalities, KINSSHIP syndrome, autosomal dominant nebulin-related myopathy, IMPG1-related dominant retinopathy, PROM1-related dominant retinopathy, PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome, ALG8-related autosomal dominant polycystic kidney and/or liver disease, NOTCH1-related AOS spectrum disorder, FLNB-associated autosomal dominant filamin related bone disorder, familial antiphospholipid syndrome

Subtypes (7): polycystic kidney disease 1, polycystic kidney disease 3 with or without polycystic liver disease, polycystic kidney disease 2, polycystic kidney disease 7, polycystic kidney disease 6 with or without polycystic liver disease, ALG9-associated autosomal dominant polycystic kidney disease, polycystic kidney disease 8

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

600 retrieved; paginated sample, class counts are floors:

260 uncertain significance, 144 likely benign, 63 pathogenic, 37 benign, 32 benign/likely benign, 31 conflicting classifications of pathogenicity, 23 likely pathogenic, 10 pathogenic/likely pathogenic

ClinVar	Variant (HGVS)	Gene	Classification	Review
1172653	NM_016306.6(DNAJB11):c.70C>T (p.Arg24Ter)	DNAJB11	Pathogenic	criteria provided, multiple submitters, no conflicts
2053433	NM_016306.6(DNAJB11):c.100C>T (p.Arg34Ter)	DNAJB11	Pathogenic	criteria provided, multiple submitters, no conflicts
2281222	NM_016306.6(DNAJB11):c.724C>T (p.Arg242Ter)	DNAJB11	Pathogenic	criteria provided, multiple submitters, no conflicts
31680	NM_014714.4(IFT140):c.2399+1G>T	IFT140	Pathogenic	criteria provided, multiple submitters, no conflicts
1996962	NM_000297.4(PKD2):c.282del (p.Phe94fs)	LOC129992813	Pathogenic	criteria provided, single submitter
2087027	NM_000297.4(PKD2):c.208G>T (p.Gly70Ter)	LOC129992813	Pathogenic	criteria provided, single submitter
1048642	NM_001009944.3(PKD1):c.3931dup (p.Ala1311fs)	PKD1	Pathogenic	criteria provided, multiple submitters, no conflicts
1050228	NM_001009944.3(PKD1):c.8791+40_10050+3del	PKD1	Pathogenic	no assertion criteria provided
1255639	NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs)	PKD1	Pathogenic	criteria provided, single submitter
1255640	NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)	PKD1	Pathogenic	no assertion criteria provided
1255641	NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)	PKD1	Pathogenic	no assertion criteria provided
1255643	NM_001009944.3(PKD1):c.1353dup (p.Val452fs)	PKD1	Pathogenic	criteria provided, single submitter
1255646	NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)	PKD1	Pathogenic	no assertion criteria provided
1255649	NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)	PKD1	Pathogenic	no assertion criteria provided
1255651	NM_001009944.3(PKD1):c.11016+1G>A	PKD1	Pathogenic	no assertion criteria provided
1255653	NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer)	PKD1	Pathogenic	no assertion criteria provided
1255656	NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs)	PKD1	Pathogenic	no assertion criteria provided
1255660	NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)	PKD1	Pathogenic	no assertion criteria provided
1255661	NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)	PKD1	Pathogenic	criteria provided, multiple submitters, no conflicts
1255663	NM_001009944.3(PKD1):c.109del (p.Cys37fs)	PKD1	Pathogenic	criteria provided, multiple submitters, no conflicts
1255665	NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs)	PKD1	Pathogenic	criteria provided, single submitter
1255668	NM_001009944.3(PKD1):c.6210del (p.Cys2071fs)	PKD1	Pathogenic	no assertion criteria provided
1255671	NM_001009944.3(PKD1):c.8631del (p.Asn2878fs)	PKD1	Pathogenic	no assertion criteria provided
1255672	NM_001009944.3(PKD1):c.302del (p.Asn101fs)	PKD1	Pathogenic	no assertion criteria provided
1255675	NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs)	PKD1	Pathogenic	no assertion criteria provided
1255677	NM_001009944.3(PKD1):c.9398-2A>G	PKD1	Pathogenic/Likely pathogenic	criteria provided, multiple submitters, no conflicts
1255679	NM_001009944.3(PKD1):c.7065+2T>G	PKD1	Pathogenic	no assertion criteria provided
1255680	NM_001009944.3(PKD1):c.6915+1G>A	PKD1	Pathogenic	criteria provided, multiple submitters, no conflicts
1255683	NM_001009944.3(PKD1):c.11270-1G>A	PKD1	Pathogenic	criteria provided, multiple submitters, no conflicts
1298648	NM_001009944.3(PKD1):c.2853+1G>A	PKD1	Pathogenic	criteria provided, multiple submitters, no conflicts

Genes & proteins

Mendelian disease overlap and somatic drivers

GenCC: 65 · Orphanet: 34 · 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
GANAB	Definitive	Autosomal dominant	polycystic kidney disease 3 with or without polycystic liver disease	5
IFT140	Definitive	Autosomal dominant	autosomal dominant polycystic kidney disease	11
PKD1	Definitive	Autosomal recessive	autosomal recessive polycystic kidney disease	7
PKD2	Definitive	Autosomal dominant	autosomal dominant polycystic kidney disease	6
PRKD1	Definitive	Autosomal recessive	autosomal recessive polycystic kidney disease	14
ALG5	Strong	Autosomal dominant	polycystic kidney disease 7	5
ALG9	Strong	Autosomal dominant	ALG9-associated autosomal dominant polycystic kidney disease	10
DNAJB11	Strong	Autosomal dominant	polycystic kidney disease 6 with or without polycystic liver disease	7

Orphanet rare-disease linkage (cohort genes)

Gene	Orphanet ID	Rare disease
DNAJB11	Orphanet:730	Autosomal dominant polycystic kidney disease
ALG9	Orphanet:730	Autosomal dominant polycystic kidney disease
ALG9	Orphanet:79328	ALG9-CDG
IFT140	Orphanet:140969	Saldino-Mainzer syndrome
IFT140	Orphanet:474	Jeune syndrome
IFT140	Orphanet:65	Leber congenital amaurosis
IFT140	Orphanet:730	Autosomal dominant polycystic kidney disease
IFT140	Orphanet:791	Retinitis pigmentosa
GANAB	Orphanet:730	Autosomal dominant polycystic kidney disease
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
ALG5	Orphanet:730	Autosomal dominant polycystic kidney disease
TSC2	Orphanet:210159	Adult hepatocellular carcinoma
TSC2	Orphanet:269001	Isolated focal cortical dysplasia type IIa
TSC2	Orphanet:269008	Isolated focal cortical dysplasia type IIb
TSC2	Orphanet:538	Lymphangioleiomyomatosis
TSC2	Orphanet:805	Tuberous sclerosis complex
TSC2	Orphanet:88924	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
LRP5	Orphanet:178377	Osteosclerosis-developmental delay-craniosynostosis syndrome
LRP5	Orphanet:2783	Autosomal dominant osteopetrosis type 1
LRP5	Orphanet:2788	Osteoporosis-pseudoglioma syndrome
LRP5	Orphanet:2790	Endosteal hyperostosis, Worth type
LRP5	Orphanet:2924	Isolated polycystic liver disease
LRP5	Orphanet:3416	Hyperostosis corticalis generalisata
LRP5	Orphanet:498481	LRP5-related primary osteoporosis
LRP5	Orphanet:891	Familial exudative vitreoretinopathy
LRP5	Orphanet:90050	Retinopathy of prematurity
LRP6	Orphanet:1810	Autosomal dominant hypohidrotic ectodermal dysplasia
LRP6	Orphanet:99798	Oligodontia
PKHD1	Orphanet:53035	Caroli disease
PKHD1	Orphanet:731	Autosomal recessive polycystic kidney disease

Cohort genes → proteins

21 cohort genes, 17 distinct canonical proteins.

Evidence partition

Subset	Genes
multi_evidence	21

Cohort genes (full)

Symbol	HGNC	Ensembl	UniProt	Name	Evidence
DNAJB11	HGNC:14889	ENSG00000090520	Q9UBS4	DnaJ homolog subfamily B member 11	gencc,clinvar
ALG9	HGNC:15672	ENSG00000086848	Q9H6U8	Alpha-1,2-mannosyltransferase ALG9	gencc,clinvar
IFT140	HGNC:29077	ENSG00000187535	Q96RY7	Intraflagellar transport protein 140 homolog	gencc,clinvar
GANAB	HGNC:4138	ENSG00000089597	Q14697	Neutral alpha-glucosidase AB	gencc,clinvar
PKD1	HGNC:9008	ENSG00000008710	P98161	Polycystin-1	gencc,clinvar
PKD2	HGNC:9009	ENSG00000118762	Q13563	Polycystin-2	gencc,clinvar
PRKD1	HGNC:9407	ENSG00000184304	Q15139	Serine/threonine-protein kinase D1	gencc,clinvar
ALG5	HGNC:20266	ENSG00000120697	Q9Y673	Dolichyl-phosphate beta-glucosyltransferase	gencc
TSC2	HGNC:12363	ENSG00000103197	P49815	Tuberin	clinvar
HERC5	HGNC:24368	ENSG00000138646	Q9UII4	E3 ISG15–protein ligase HERC5	clinvar
BRICD5	HGNC:28309	ENSG00000182685	Q6PL45	BRICHOS domain-containing protein 5	clinvar
DKK3	HGNC:2893	ENSG00000050165	Q9UBP4	Dickkopf-related protein 3	clinvar
MIR1225	HGNC:33931	ENSG00000221656		microRNA 1225	clinvar
MIR4516	HGNC:41617	ENSG00000265867		microRNA 4516	clinvar
MIR6511B1	HGNC:50228	ENSG00000284008		microRNA 6511b-1	clinvar
PKD1-AS1	HGNC:56035	ENSG00000259933		PKD1 antisense RNA 1	clinvar
LRP5	HGNC:6697	ENSG00000162337	O75197	Low-density lipoprotein receptor-related protein 5	clinvar
LRP6	HGNC:6698	ENSG00000070018	O75581	Low-density lipoprotein receptor-related protein 6	clinvar
ABCG2	HGNC:74	ENSG00000118777	Q9UNQ0	Broad substrate specificity ATP-binding cassette transporter ABCG2	clinvar
ONECUT2	HGNC:8139	ENSG00000119547	O95948	One cut domain family member 2	clinvar
PKHD1	HGNC:9016	ENSG00000170927	P08F94	Fibrocystin	clinvar

Cohort function summary

Lead sentence per gene, UniProt-curated.

Symbol	Protein name	Function (lead sentence)
DNAJB11	DnaJ homolog subfamily B member 11	As a co-chaperone for HSPA5 it is required for proper folding, trafficking or degradation of proteins.
ALG9	Alpha-1,2-mannosyltransferase ALG9	Mannosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
IFT140	Intraflagellar transport protein 140 homolog	Component of the IFT complex A (IFT-A), a complex required for retrograde ciliary transport and entry into cilia of G protein-coupled receptors (GPCRs).
GANAB	Neutral alpha-glucosidase AB	Catalytic subunit of glucosidase II that cleaves sequentially the 2 innermost alpha-1,3-linked glucose residues from the Glc(2)Man(9)GlcNAc(2) oligosaccharide precursor of immature glycoproteins.
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…
ALG5	Dolichyl-phosphate beta-glucosyltransferase	Dolichyl-phosphate beta-glucosyltransferase that operates in the biosynthetic pathway of dolichol-linked oligosaccharides, the glycan precursors employed in protein asparagine (N)-glycosylation.
TSC2	Tuberin	Catalytic component of the TSC-TBC complex, a multiprotein complex that acts as a negative regulator of the canonical mTORC1 complex, an evolutionarily conserved central nutrient sensor that stimulates anabolic reactions and macromolecule…
HERC5	E3 ISG15–protein ligase HERC5	Major E3 ligase for ISG15 conjugation.
DKK3	Dickkopf-related protein 3	Antagonizes canonical Wnt signaling by inhibiting LRP5/6 interaction with Wnt and by forming a ternary complex with the transmembrane protein KREMEN that promotes internalization of LRP5/6.
LRP5	Low-density lipoprotein receptor-related protein 5	Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins.
LRP6	Low-density lipoprotein receptor-related protein 6	Component of the Wnt-Fzd-LRP5-LRP6 complex that triggers beta-catenin signaling through inducing aggregation of receptor-ligand complexes into ribosome-sized signalosomes.
ABCG2	Broad substrate specificity ATP-binding cassette transporter ABCG2	Broad substrate specificity ATP-dependent transporter of the ATP-binding cassette (ABC) family that actively extrudes a wide variety of physiological compounds, dietary toxins and xenobiotics from cells.
ONECUT2	One cut domain family member 2	Transcriptional activator.
PKHD1	Fibrocystin	Promotes ciliogenesis in renal epithelial cells and therefore participates in the tubules formation and/ or ensures the maintenance of the architecture of the lumen of the kidney.

Protein-family classification

Druggable: 6 · Difficult: 2 · Unknown: 13 · Druggable fraction: 0.29

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
Transporter	1	3.7×	0.753
Antibody/Immunoglobulin	2	2.8×	0.753
Kinase	1	1.3×	0.753
Enzyme (other)	2	1.1×	0.753
Other/Unknown	13	1.1×	0.753
Scaffold/PPI	1	0.8×	0.833
Transcription factor	1	0.4×	0.934

Per-gene assignment

Symbol	Family	Druggable?	EC	InterPro (top 3)
DNAJB11	Other/Unknown	no		DnaJ_domain, DnaJ_C, HSP40/DnaJ_pept-bd
ALG9	Enzyme (other)	yes	2.4.1.259	GPI_mannosylTrfase
IFT140	Scaffold/PPI	no		WD40_rpt, WD40/YVTN_repeat-like_dom_sf, WD40_repeat_dom_sf
GANAB	Enzyme (other)	yes	3.2.1.207	Glyco_hydro_31_TIM, Gal_mutarotase_sf_dom, Glyco_hydro_b
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
ALG5	Other/Unknown	no		Glyco_trans_2-like, Nucleotide-diphossugar_trans, DPG_synthase
TSC2	Other/Unknown	no		Rap/Ran_GAP_dom, Tuberin, ARM-like
HERC5	Other/Unknown	no		Reg_chr_condens, HECT_dom, RCC1/BLIP-II
BRICD5	Other/Unknown	no		BRICHOS_dom, Gastrokine
DKK3	Other/Unknown	no		Dickkopf_N, DKK1-4, Dkk3_Cys2
MIR1225	Other/Unknown	no
MIR4516	Other/Unknown	no
MIR6511B1	Other/Unknown	no
PKD1-AS1	Other/Unknown	no
LRP5	Other/Unknown	no		LDLR_classB_rpt, EGF, LDrepeatLR_classA_rpt
LRP6	Other/Unknown	no		LDLR_classB_rpt, EGF, LDrepeatLR_classA_rpt
ABCG2	Transporter	yes	7.6.2.2	ABC_transporter-like_ATP-bd, AAA+_ATPase, ABC2_TM
ONECUT2	Transcription factor	no		HD, CUT_dom, Homeodomain-like_sf
PKHD1	Antibody/Immunoglobulin	yes		IPT_dom, PbH1, Pectin_lyase_fold/virulence

Expression context

Cohort genes with no expression data: 0.

17 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)	21
unknown	0

Top tissues across cohort

Tissue	Cohort genes
right hemisphere of cerebellum	5
cerebellar cortex	4
cerebellar hemisphere	4
body of pancreas	3
endothelial cell	3
ventricular zone	3
calcaneal tendon	3
sural nerve	3
jejunal mucosa	2
bone marrow cell	1
vermiform appendix	1
ganglionic eminence	1
left lobe of thyroid gland	1
right lobe of thyroid gland	1
right uterine tube	1
islet of Langerhans	1
stromal cell of endometrium	1
blood vessel layer	1
saphenous vein	1
seminal vesicle	1

Per-gene tissue summary (top 30)

Symbol	Bgee breadth	FANTOM5 breadth	SCXA	Top tissues
DNAJB11	141	ubiquitous	marker	vermiform appendix, body of pancreas, bone marrow cell
ALG9	240	ubiquitous	marker	endothelial cell, body of pancreas, ganglionic eminence
IFT140	214	ubiquitous	marker	right uterine tube, right lobe of thyroid gland, left lobe of thyroid gland
GANAB	293	ubiquitous	marker	stromal cell of endometrium, islet of Langerhans, ventricular zone
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
ALG5	285	ubiquitous	marker	parotid gland, body of pancreas, corpus epididymis
TSC2	282	ubiquitous	marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
HERC5	244	ubiquitous	marker	primordial germ cell in gonad, male germ line stem cell (sensu Vertebrata) in testis, right testis
BRICD5	164		yes	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
DKK3	286	ubiquitous	marker	endothelial cell, Brodmann (1909) area 23, middle temporal gyrus
MIR1225	77		yes	sural nerve, skeletal muscle tissue, Brodmann (1909) area 9
MIR4516	116		yes	sural nerve, prefrontal cortex, right hemisphere of cerebellum
MIR6511B1	46		yes	sural nerve, calcaneal tendon, Ammon’s horn
PKD1-AS1	133		marker	right hemisphere of cerebellum, cerebellar hemisphere, cerebellar cortex
LRP5	224	ubiquitous	marker	right lobe of liver, mucosa of transverse colon, ascending aorta
LRP6	139	ubiquitous	marker	calcaneal tendon, corpus callosum, ventricular zone
ABCG2	245	broad	marker	jejunal mucosa, ileal mucosa, endothelial cell
ONECUT2	80	broad	marker	jejunal mucosa, pancreatic ductal cell, duodenum
PKHD1	51	tissue_specific	marker	kidney epithelium, renal medulla, metanephros cortex

Protein interactions among cohort

Intra-cohort edges: 15.

Hub genes (top 10 by interactor count)

Symbol	Interactor count
TSC2	4,135
GANAB	3,817
ABCG2	3,743
DNAJB11	3,387
ALG5	2,785
LRP5	2,619
LRP6	2,525
DKK3	2,444
PRKD1	2,131
PKD2	1,644

Intra-cohort edges

A	B	Sources
ALG5	PKD2	biogrid_interaction
ALG9	DNAJB11	string_interaction
ALG9	GANAB	string_interaction
DKK3	LRP5	string_interaction
DKK3	LRP6	string_interaction
DNAJB11	GANAB	string_interaction
GANAB	PKD1	string_interaction
LRP5	LRP6	string_interaction
PKD1	PKD2	biogrid_interaction, intact, string_interaction
PKD1	PKHD1	string_interaction
PKD1	PRKD1	string_interaction
PKD1	TSC2	string_interaction
PKD2	PKHD1	string_interaction
PKD2	PRKD1	string_interaction
PKHD1	PRKD1	string_interaction

Structural data

PDB: 10 · AlphaFold-only: 7 · No structure: 4

Cohort genes with PDB structures (top 30)

Symbol	UniProt	PDB entries
PKD2	Q13563	31
LRP6	O75581	30
ABCG2	Q9UNQ0	29
PKD1	P98161	13
IFT140	Q96RY7	4
ALG9	Q9H6U8	2
GANAB	Q14697	2
TSC2	P49815	2
ONECUT2	O95948	2
HERC5	Q9UII4	1

AlphaFold-only cohort genes (top 30 by pLDDT)

Symbol	UniProt	pLDDT
ALG5	Q9Y673	92.29
DNAJB11	Q9UBS4	84.34
LRP5	O75197	78.65
DKK3	Q9UBP4	74.08
BRICD5	Q6PL45	70.89
PRKD1	Q15139	68.99
PKHD1	P08F94

Function

Pathway analysis

Distinct Reactome pathways touched by cohort: 68. Enrichment computed across 21 evidence-associated genes (13 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 13 annotated cohort genes). Counts and members are kept as ground-truth; sorted by enrichment.

Pathway	Cohort genes	Fold	FDR	Sample cohort genes
Signaling by RNF43 mutants	2	195.2×	0.003	LRP5, LRP6
Negative regulation of TCF-dependent signaling by WNT ligand antagonists	2	109.8×	0.004	LRP5, LRP6
Signaling by WNT in cancer	2	92.5×	0.004	LRP5, LRP6
Regulation of FZD by ubiquitination	2	79.9×	0.004	LRP5, LRP6
VxPx cargo-targeting to cilium	2	79.9×	0.004	PKD1, PKD2
Disassembly of the destruction complex and recruitment of AXIN to the membrane	2	54.9×	0.007	LRP5, LRP6
Sphingolipid de novo biosynthesis	2	43.9×	0.009	PRKD1, ABCG2
Defective ALG9 causes CDG-1l	1	878.5×	0.010	ALG9
Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	2	31.9×	0.013	ALG9, ALG5
Synthesis of dolichyl-phosphate-glucose	1	439.2×	0.015	ALG5
Sphingolipid metabolism	2	25.8×	0.016	PRKD1, ABCG2
Inhibition of TSC complex formation by AKT (PKB)	1	175.7×	0.025	TSC2
Abacavir transmembrane transport	1	175.7×	0.025	ABCG2
Ciprofloxacin ADME	1	175.7×	0.025	ABCG2
TCF dependent signaling in response to WNT	2	18.1×	0.025	LRP5, LRP6
Signaling by WNT	2	17.2×	0.025	LRP5, LRP6
Maturation of spike protein	1	146.4×	0.027	GANAB
Signaling by LRP5 mutants	1	125.5×	0.029	LRP5
Metabolism of porphyrins	1	109.8×	0.029	ABCG2
Abacavir ADME	1	109.8×	0.029	ABCG2
NFE2L2 regulating MDR associated enzymes	1	109.8×	0.029	ABCG2
Heme degradation	1	62.8×	0.047	ABCG2
AKT phosphorylates targets in the cytosol	1	62.8×	0.047	TSC2
Heme biosynthesis	1	58.6×	0.048	ABCG2
Calnexin/calreticulin cycle	1	54.9×	0.049	GANAB
Asparagine N-linked glycosylation	2	9.2×	0.050	ALG9, ALG5
Diseases associated with N-glycosylation of proteins	1	48.8×	0.050	ALG9
Modulation of host responses by IFN-stimulated genes	1	46.2×	0.050	HERC5
Diseases of signal transduction by growth factor receptors and second messengers	2	8.7×	0.050	LRP5, LRP6
N-glycan trimming in the ER and Calnexin/Calreticulin cycle	1	32.5×	0.064	GANAB

GO biological processes by enrichment

Over-representation of cohort genes vs the genome-wide background (hypergeometric test, Benjamini-Hochberg FDR; fold = observed/expected over 17 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	991.3×	3e-04	PKD1, PKD2
metanephric ascending thin limb development	2	495.6×	8e-04	PKD1, PKD2
mesonephric duct development	2	396.5×	9e-04	PKD1, PKD2
Wnt signaling pathway	4	23.5×	0.001	PKD1, PKD2, DKK3, LRP6
determination of left/right symmetry	3	45.1×	0.002	IFT140, PKD2, ALG5
placenta blood vessel development	2	165.2×	0.002	PKD1, PKD2
liver development	3	39.1×	0.002	PKD1, PKD2, ONECUT2
heart development	4	18.5×	0.002	IFT140, PKD1, PKD2, TSC2
regulation of cell-matrix adhesion	2	152.5×	0.002	ONECUT2, PKHD1
detection of mechanical stimulus	2	141.6×	0.002	PKD1, PKD2
transepithelial transport	2	141.6×	0.002	PRKD1, ABCG2
protein heterotetramerization	2	123.9×	0.003	PKD1, PKD2
dolichol-linked oligosaccharide biosynthetic process	2	99.1×	0.004	ALG9, ALG5
embryonic placenta development	2	90.1×	0.004	PKD1, PKD2
branching morphogenesis of an epithelial tube	2	86.2×	0.004	PKD1, PKHD1
neural tube development	2	62.0×	0.008	PKD1, PKD2
spinal cord development	2	60.1×	0.008	PKD1, PKD2
cell-cell adhesion	3	17.9×	0.008	LRP5, LRP6, PKHD1
positive regulation of transcription by RNA polymerase II	6	5.2×	0.008	PKD1, PKD2, PRKD1, LRP5, LRP6, ONECUT2
endocytosis	3	16.8×	0.009	TSC2, LRP5, LRP6
metanephric cortex development	1	991.3×	0.009	PKD2
metanephric cortical collecting duct development	1	991.3×	0.009	PKD2
metanephric distal tubule development	1	991.3×	0.009	PKD2
metanephric distal tubule morphogenesis	1	991.3×	0.009	PKD1
negative regulation of anti-Mullerian hormone signaling pathway	1	991.3×	0.009	DKK3
regulation of cholangiocyte proliferation	1	991.3×	0.009	PKHD1
mesenchymal stem cell migration	1	991.3×	0.009	ONECUT2
response to peptide hormone	2	46.1×	0.009	LRP5, LRP6
sphingolipid biosynthetic process	2	42.2×	0.009	PRKD1, ABCG2
regulation of cell adhesion	2	36.0×	0.012	PKD1, PKHD1

Therapeutics

Drugs indicated for this disease

1 approved, 13 in late-stage (phase 3) trials. Disease-direct ChEMBL indications, not inferred from the associated-gene cohort below.

Drug	Development status
Tolvaptan	Approved (phase 4)
Bardoxolone Methyl	Phase 3 (in late-stage trials)
Everolimus	Phase 3 (in late-stage trials)
Hydrochlorothiazide	Phase 3 (in late-stage trials)
Lanreotide	Phase 3 (in late-stage trials)
Lixivaptan	Phase 3 (in late-stage trials)
Metformin	Phase 3 (in late-stage trials)
Octreotide	Phase 3 (in late-stage trials)
Pravastatin	Phase 3 (in late-stage trials)
Sirolimus	Phase 3 (in late-stage trials)
Sodium Chloride	Phase 3 (in late-stage trials)
Somatostatin	Phase 3 (in late-stage trials)
Spironolactone	Phase 3 (in late-stage trials)
Triptolide	Phase 3 (in late-stage trials)

Earlier-phase candidates (phase 2, investigational — efficacy not yet established): Bosutinib, Cilnidipine, Empagliflozin, Imidapril, Sodium Citrate, Tamibarotene, Tesevatinib, Venglustat.

Drug target analysis

Approved (phase 4): 2 · Phase ≥3: 2 · Phased (≥1): 3 · Undrugged: 18

Druggability breadth: 9 of 21 evidence-associated genes (43%) 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
ABCG2	CANDESARTAN CILEXETIL

Top cohort targets by molecule count

Symbol	Molecules	Max phase
ABCG2	92	4
PRKD1	26	4
GANAB	1	2
DNAJB11	0	0
ALG9	0	0
IFT140	0	0
PKD1	0	0
PKD2	0	0
ALG5	0	0
TSC2	0	0

Drugs targeting cohort genes (top 30)

Molecule	Max phase	Targets in cohort
INGENOL MEBUTATE	4	PRKD1
MIDOSTAURIN	4	ABCG2, PRKD1
TAMOXIFEN	4	PRKD1
NERATINIB	4	PRKD1
BRIGATINIB	4	PRKD1
NINTEDANIB	4	PRKD1
SUNITINIB	4	ABCG2, PRKD1
CRIZOTINIB	4	PRKD1
GEFITINIB	4	ABCG2, PRKD1
CANDESARTAN CILEXETIL	4	ABCG2
TELMISARTAN	4	ABCG2
SAQUINAVIR	4	ABCG2
ATAZANAVIR	4	ABCG2
FEBUXOSTAT	4	ABCG2
PONATINIB	4	ABCG2
RABEPRAZOLE	4	ABCG2
DOLUTEGRAVIR	4	ABCG2
TIVOZANIB	4	ABCG2
CLOFAZIMINE	4	ABCG2
SORAFENIB	4	ABCG2
POSACONAZOLE	4	ABCG2
ESTRONE	4	ABCG2
NIMODIPINE	4	ABCG2
ATOVAQUONE	4	ABCG2
NICARDIPINE	4	ABCG2
ATORVASTATIN	4	ABCG2
PANTOPRAZOLE	4	ABCG2
OMEPRAZOLE	4	ABCG2
KETOCONAZOLE	4	ABCG2
CYCLOSPORINE	4	ABCG2

Bioactivity and enzyme data

Enzyme cohort genes (≥1 EC): 4.

Cohort genes with ChEMBL bioactivity (full, sorted by assay count)

Symbol	Assays	Type breakdown
ABCG2	878	Binding:651, ADMET:115, Functional:111, Toxicity:1
PRKD1	660	Binding:650, Functional:10
GANAB	38	Binding:32, Functional:6
PKD1	27	Binding:27
PKD2	12	Binding:12
LRP6	9	Binding:9
DNAJB11	1	Binding:1
TSC2	1	Binding:1
LRP5	1	Binding:1

Cohort enzymes (BRENDA EC)

Symbol	EC numbers	Names
ALG9	2.4.1.259, 2.4.1.261	dolichyl-P-Man:Man6GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase, dolichyl-P-Man:Man8GlcNAc2-PP-dolichol alpha-1,2-mannosyltransferase
GANAB	3.2.1.207	mannosyl-oligosaccharide alpha-1,3-glucosidase
PRKD1	2.7.11.13	protein kinase C
ABCG2	7.6.2.2, 7.6.2.3	ABC-type xenobiotic transporter, ABC-type glutathione-S-conjugate transporter

Cohort genes with high screening signal

≥100 ChEMBL assays — a studied-ness signal; see Therapeutics for approved-drug status.

Symbol	ChEMBL assays
PRKD1	660
ABCG2	878

Pharmacogenomics

Cohort genes with a PharmGKB record: 18; with CPIC/DPWG dosing guidelines: 1.

Cohort genes with a CPIC/DPWG dosing guideline

Symbol	CPIC guidelines
ABCG2	1

Chemical tractability of cohort targets

29 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	ABCG2, PRKD1
TAMOXIFEN	4	PRKD1
NERATINIB	4	PRKD1
BRIGATINIB	4	PRKD1
NINTEDANIB	4	PRKD1
SUNITINIB	4	ABCG2, PRKD1
CRIZOTINIB	4	PRKD1
GEFITINIB	4	ABCG2, PRKD1
CANDESARTAN CILEXETIL	4	ABCG2
TELMISARTAN	4	ABCG2
SAQUINAVIR	4	ABCG2
ATAZANAVIR	4	ABCG2
PONATINIB	4	ABCG2
RABEPRAZOLE	4	ABCG2
DOLUTEGRAVIR	4	ABCG2
TIVOZANIB	4	ABCG2
CLOFAZIMINE	4	ABCG2
SORAFENIB	4	ABCG2
POSACONAZOLE	4	ABCG2
ESTRONE	4	ABCG2
NIMODIPINE	4	ABCG2
ATOVAQUONE	4	ABCG2
NICARDIPINE	4	ABCG2
ATORVASTATIN	4	ABCG2
PANTOPRAZOLE	4	ABCG2
OMEPRAZOLE	4	ABCG2
KETOCONAZOLE	4	ABCG2
CYCLOSPORINE	4	ABCG2

Druggability pyramid

Cohort genes binned by druggability tier (high → low):

Tier	Definition	Genes	Symbols
A	Approved (phase 4 drug)	2	PRKD1, ABCG2
B	Phased (≥1) drug, not yet approved	1	GANAB
C	Druggable family + PDB, no drug	2	ALG9, PKD1
D	Druggable family + AlphaFold only, no drug	1	PKHD1
E	Difficult family or no structure, no drug	15	DNAJB11, IFT140, PKD2, ALG5, TSC2, HERC5, BRICD5, DKK3, MIR1225, MIR4516 (+5 more)

Undrugged target profiles

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

Symbol	ChEMBL assays	Drugged partners (top 3)
ALG9	0	GANAB
PKD1	27	PRKD1
DNAJB11	1	—
IFT140	0	—
PKD2	12	—
ALG5	0	—
TSC2	1	—
HERC5	0	—
BRICD5	0	—
DKK3	0	—
MIR1225	0	—
MIR4516	0	—
MIR6511B1	0	—
PKD1-AS1	0	—
LRP5	1	—
LRP6	9	—
ONECUT2	0	—
PKHD1	0	—

Clinical trials & evidence

Clinical trials

Clinical trials: 113.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	52
PHASE2	22
PHASE3	18
PHASE1	13
PHASE2/PHASE3	5
PHASE4	3

Top trials by phase / activity

NCT	Phase	Status	Title
NCT03273413	PHASE4	ACTIVE_NOT_RECRUITING	Statin Therapy in Patients With Early Stage ADPKD
NCT00414440	PHASE4	COMPLETED	Efficacy, Safety and Tolerability of Everolimus in Preventing End-stage Renal Disease in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT03949894	PHASE4	COMPLETED	Evaluating the Safety and effectivenesS in Adult KorEaN Patients Treated With Tolvaptan for Management of Autosomal domInAnt poLycystic Kidney Disease
NCT04939935	PHASE3	RECRUITING	Implementation of Metformin theraPy to Ease Decline of Kidney Function in Polycystic Kidney Disease (IMPEDE-PKD)
NCT05373264	PHASE3	RECRUITING	HYDROchlorothiazide to PROTECT Polycystic Kidney Disease Patients and Improve Their Quality of Life
NCT00309283	PHASE3	COMPLETED	Somatostatin in Polycystic Kidney: a Long-term Three Year Follow up Study
NCT00346918	PHASE3	COMPLETED	Sirolimus (Rapamune®) for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT00428948	PHASE3	COMPLETED	Tolvaptan Phase 3 Efficacy and Safety Study in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT00920309	PHASE2/PHASE3	TERMINATED	Rapamycin as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD): The Role of Biomarkers in Predicting a Response to Therapy
NCT01022424	PHASE3	COMPLETED	A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) (2) [Extension of Study 156-05-002]
NCT01214421	PHASE3	COMPLETED	Tolvaptan Extension Study in Participants With ADPKD
NCT01223755	PHASE2/PHASE3	TERMINATED	Sirolimus In Autosomal Dominant Polycystic Kidney Disease And Severe Renal Insufficiency
NCT01377246	PHASE3	COMPLETED	Somatostatin In Patients With Autosomal Dominant Polycystic Kidney Disease And Moderate To Severe Renal Insufficiency
NCT01616927	PHASE3	UNKNOWN	Study of Lanreotide to Treat Polycystic Kidney Disease
NCT01853553	PHASE3	COMPLETED	Mineralocorticoid Antagonism and Endothelial Dysfunction in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT02115659	PHASE3	UNKNOWN	Triptolide-Containing Formulation as Treatment for Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT02119013	PHASE2/PHASE3	COMPLETED	Effects of Somatostatin on ADPKD Heart
NCT02119052	PHASE2/PHASE3	COMPLETED	Effects of Somatostatin on Liver in ADPKD
NCT02134899	PHASE3	COMPLETED	The Efficacy of Everolimus in Reducing Total Native Kidney Volume in Polycystic Kidney Disease Transplanted Recipients
NCT02160145	PHASE3	COMPLETED	Efficacy and Safety of Tolvaptan in Subjects With Chronic Kidney Disease Between Late Stage 2 to Early Stage 4 Due to Autosomal Dominant Polycystic Kidney Disease
NCT02225860	PHASE2/PHASE3	COMPLETED	Diet as a Potential Treatment for Autosomal Dominant Polycystic Kidney Disease
NCT02964273	PHASE3	COMPLETED	Safety, Pharmacokinetics, Tolerability and Efficacy of Tolvaptan in Children and Adolescents With ADPKD (Autosomal Dominant Polycystic Kidney Disease)
NCT03764605	PHASE3	UNKNOWN	Metformin vs Tolvaptan for Treatment of Autosomal Dominant Polycystic Kidney Disease
NCT03918447	PHASE3	TERMINATED	A Trial of Bardoxolone Methyl in Patients With ADPKD - FALCON
NCT04064346	PHASE3	TERMINATED	Efficacy and Safety of Lixivaptan in the Treatment of Autosomal Dominant Polycystic Kidney Disease
NCT04152837	PHASE3	TERMINATED	Safety of Lixivaptan in Subjects Previously Treated With Tolvaptan for Autosomal Dominant Polycystic Kidney Disease
NCT05870007	PHASE2	ENROLLING_BY_INVITATION	Atorvastatin and Alkali Therapy in Patients With Autosomal Dominant Polycystic Kidney Disease
NCT06289998	PHASE2	ACTIVE_NOT_RECRUITING	Study of Tamibarotene in Patients With ADPKD
NCT06435858	PHASE2	RECRUITING	Short-term Effects of an SGLT2 Inhibitor on Divalent Ions in Autosomal Dominant Polycystic Kidney Disease
NCT06800651	PHASE2	RECRUITING	Trial of JMKX003142 in Participants With Rapidly Progressive Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT06902558	PHASE2	RECRUITING	ANCHOR Study: A Study to Assess the Safety and Efficacy of ABBV-CLS-628 in Adult Participants With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT07161037	PHASE2	RECRUITING	Phase 2a Study of VX-407 in Participants With ADPKD Who Have a Subset of PKD1 Gene Variants (AGLOW)
NCT07282821	PHASE2	NOT_YET_RECRUITING	Bempedoic Acid Therapy for Polycystic Kidney Disease
NCT00841568	PHASE2	COMPLETED	A Long-term Administration Study of OPC-41061 in Patients With Autosomal Dominant Polycystic Kidney Disease (ADPKD) [Extension of Study 156-04-001]
NCT01210560	PHASE2	COMPLETED	Dose-finding Study of New Tolvaptan Formulation in Subjects With ADPKD
NCT01336972	PHASE2	COMPLETED	Short-term Renal Hemodynamic Effects of Tolvaptan in Subjects With Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01451827	PHASE2	COMPLETED	8-Week Study of Tolvaptan Dose Forms in Autosomal Dominant Polycystic Kidney Disease (ADPKD)
NCT01670110	PHASE2	COMPLETED	Pasireotide LAR in Severe Polycystic Liver Disease
NCT01932450	PHASE2	UNKNOWN	Radiofrequency Ablation for ADPKD Blood Pressure and Disease Progression Control
NCT02527863	PHASE2	COMPLETED	Effect of the Aquaretic Tolvaptan on Nitric Oxide System

Drugs tested across these trials (top 30)

Molecule	Max phase	Trials referencing
TOLVAPTAN	4	12
EVEROLIMUS	4	2
PRAVASTATIN	4	2
AMIODARONE HYDROCHLORIDE	4	1
FEBUXOSTAT	4	1
LANREOTIDE	4	1
SIROLIMUS	4	1
SODIUM CITRATE	4	1
SPIRONOLACTONE	4	1
TAMIBAROTENE	4	1
LIXIVAPTAN	3	3
TESEVATINIB	3	2
SOMATOSTATIN	3	1
TILARGININE	3	1
GLPG-2737	2	1
RGLS-4326	1	1
CHEMBL4303142	0	9
METFORMIN XR	0	2
CHEMBL4079877	0	1
CHEMBL4525833	0	1
CHEMBL1562223	0	1
CHEMBL30458	0	1
SCEPTRIN	0	1