Details of Disease

General Information of Disease (ID: DISWS3UY)

• Disease Name: Polycystic kidney disease
• Synonyms: PKD - polycystic kidney disease; polycystic kidney disease; fibrocystic renal disease
• Disease Class: GB8Y: Cystic/dysplastic kidney disease
• Definition: A usually autosomal dominant and less frequently autosomal recessive genetic disorder characterized by the presence of numerous cysts in the kidneys leading to end-stage renal failure. The autosomal dominant trait is associated with abnormalities on the short arm of chromosome 16. Symptoms in patients with the autosomal dominant trait usually appear at middle age and include abdominal pain, hematuria, and high blood pressure. Patients may develop brain aneurysms and liver cysts. Patients with the autosomal recessive trait present with progressive renal failure early in life and symptoms resulting from hepatic fibrosis. The autosomal recessive trait is associated with abnormalities of chromosome 6. Polycystic kidney disease may also result as a side effect in patients on renal dialysis.
• Disease Hierarchy:
  DISW7APC: Familial cystic renal disease
  DISRT1LM: Cystic kidney disease
  DISWS3UY: Polycystic kidney disease
• ICD Code:
  ICD-11: ICD-11: GB8Y
  ICD-10: ICD-10: Q61.3
  ICD-9: ICD-9: 753.1
  Expand ICD-11: 'GB8Z
  Expand ICD-10: 'Q61.3
  Expand ICD-9: 753.1
• Disease Identifiers:
  MONDO ID: MONDO_0020642
  MESH ID: D007690
  UMLS CUI: C0022680
  MedGen ID: 9639
  HPO ID: HP:0000113

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 2 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Everolimus	DM8X2EH	Approved	Small molecular drug	[1]
Sirolimus	DMGW1ID	Approved	Small molecular drug	[2]

This Disease is Treated as An Indication in 1 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
KD019	DMEFW3G	Phase 2	Small molecular drug	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 35 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
AVPR2	TTK8R02	Limited	Biomarker	[4]
CFTR	TTRLZHP	Limited	Biomarker	[5]
NEK8	TT8AH9I	moderate	Genetic Variation	[6]
PKD2L1	TTAHD89	moderate	Biomarker	[7]
SCT	TTOBVIN	moderate	Biomarker	[8]
TYRP1	TTFRV98	moderate	Genetic Variation	[9]
AGT	TT5C0UB	Strong	Altered Expression	[10]
ANGPT2	TTKLQTJ	Strong	Biomarker	[11]
BECN1	TT5M7LN	Strong	Biomarker	[12]
CDC25A	TTLZS4Q	Strong	Biomarker	[13]
CDKN1A	TT9GUW0	Strong	Biomarker	[14]
CFB	TTA0P7K	Strong	Therapeutic	[15]
CSNK1E	TTA8PLI	Strong	Biomarker	[16]
CTSB	TTF2LRI	Strong	Biomarker	[17]
CTSH	TT3G406	Strong	Biomarker	[17]
EPAS1	TTWPA54	Strong	Biomarker	[18]
FABP1	TTIV96N	Strong	Biomarker	[19]
GLA	TTIS03D	Strong	Biomarker	[20]
GPBAR1	TTSDVTR	Strong	Biomarker	[21]
HBA2	TTQO71U	Strong	Biomarker	[22]
HDAC6	TT5ZKDI	Strong	Biomarker	[23]
LRP2	TTPH1AJ	Strong	Biomarker	[24]
LRP5	TT7VMG4	Strong	Biomarker	[25]
MAP2K5	TTV3O87	Strong	Biomarker	[26]
NEK1	TTO5QT2	Strong	Biomarker	[27]
NPPB	TTY63XT	Strong	Therapeutic	[28]
NPTX2	TTNJ5A6	Strong	Genetic Variation	[29]
OXSR1	TT7ZY03	Strong	Biomarker	[30]
PLA2G4A	TTT1JVS	Strong	Biomarker	[31]
PLCG1	TT6T4JI	Strong	Biomarker	[32]
PTGER2	TT1ZAVI	Strong	Biomarker	[33]
PTGS1	TT8NGED	Strong	Biomarker	[34]
RPS6KB1	TTG0U4H	Strong	Biomarker	[35]
SPP1	TT8ME6I	Strong	Biomarker	[36]
TNC	TTUCPMY	Strong	Biomarker	[37]

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC34A1	DT42EWA	Strong	ModifyingMutation	[38]
SLC9B2	DT4JZLA	Strong	Biomarker	[4]

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
PMM2	DEBRX3L	Strong	Biomarker	[39]
PRKCSH	DE073GW	Strong	Genetic Variation	[25]

This Disease Is Related to 49 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
AQP11	OT1IQMHV	No Known	Autosomal recessive	[40]
ANKS6	OT6DXD3Q	Limited	Biomarker	[41]
GLIS3	OTBC960E	Limited	Biomarker	[42]
KIAA0319	OTN42Y77	Limited	Genetic Variation	[43]
KIAA0319L	OTZ5X6IM	Limited	Genetic Variation	[43]
SEC63	OT1ICPMK	Limited	Biomarker	[25]
BIRC6	OTCQJAB0	Disputed	Biomarker	[44]
CYS1	OTUXN7CO	Moderate	Autosomal recessive	[45]
FNIP1	OTB1CC41	moderate	Biomarker	[46]
IFT88	OTDR3VBD	moderate	Biomarker	[47]
MXI1	OTUQ9E0D	moderate	Posttranslational Modification	[48]
NPHP3	OT8U8ELA	moderate	Genetic Variation	[49]
PRKD2	OTIFSVI8	moderate	Biomarker	[50]
TBPL1	OT4I143E	moderate	Genetic Variation	[9]
ALG9	OT5V9PIR	Strong	CausalMutation	[51]
AQP2	OTQLBKK6	Strong	Altered Expression	[52]
ATF1	OT251CI0	Strong	Biomarker	[53]
BGLAP	OTK1YLWQ	Strong	Biomarker	[54]
BICC1	OTYRKIJ1	Strong	Biomarker	[55]
C9	OT7I5FDX	Strong	Therapeutic	[15]
CCNF	OTJFVU43	Strong	Genetic Variation	[56]
CEMIP2	OT9I1XUO	Strong	Biomarker	[57]
CENPV	OTPQ0KT9	Strong	Altered Expression	[58]
CUX1	OTU1LCNJ	Strong	Biomarker	[59]
DCTN3	OTQOSUES	Strong	Genetic Variation	[58]
DNAAF1	OTYLQLHO	Strong	Biomarker	[60]
DNAJB11	OTDDK2SY	Strong	Biomarker	[61]
DYNC1H1	OTD1KRKO	Strong	Genetic Variation	[58]
ELMO1	OTY2ORXK	Strong	Biomarker	[62]
GNAS	OTMH8BKJ	Strong	Biomarker	[21]
IFT140	OT6KO5FH	Strong	Genetic Variation	[63]
INPP5E	OTJF2AZ9	Strong	Genetic Variation	[64]
KIF3A	OTMUBSSK	Strong	Biomarker	[65]
OFD1	OTAZW5TK	Strong	Genetic Variation	[66]
OSER1	OTN8C6JQ	Strong	Biomarker	[30]
OSR1	OTB19LEQ	Strong	Biomarker	[30]
PHB2	OTCAX3AW	Strong	Genetic Variation	[58]
PIGR	OT6GLSUL	Strong	Biomarker	[67]
PIP4K2C	OTHRWR93	Strong	Genetic Variation	[64]
PITX2	OTWMXAOY	Strong	Biomarker	[36]
PKD1L2	OTVDFDED	Strong	Biomarker	[68]
PKD1L3	OTQMYNOW	Strong	Altered Expression	[69]
PKDREJ	OTMAA15T	Strong	Biomarker	[70]
PTMA	OT2W4T1M	Strong	Altered Expression	[71]
RCC1	OT25AGMB	Strong	Biomarker	[72]
SPAG11A	OTNQ9UB0	Strong	Biomarker	[33]
TMEM130	OTKA3N5Q	Strong	Biomarker	[29]
TMEM67	OTME92T5	Strong	Genetic Variation	[73]
TSC2	OT47LWI9	Strong	Genetic Variation	[74]

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