Details of Disease

General Information of Disease (ID: DIS9FB3R)

• Disease Name: Polycystic kidney disease 1
• Synonyms: Potter type 3 polycystic kidney disease; polycystic kidney disease, adult, type 1; polycystic kidney disease, adult; Potter type 3 polycystic kidney disease, formerly; polycystic kidney disease 1 with or without polycystic liver disease; PKD1; polycystic kidney disease, adult, type I; autosomal dominant polycystic kidney disease caused by mutation in PKD1; PKD1 autosomal dominant polycystic kidney disease; polycystic kidney disease 1; polycystic kidney disease type 1; APKD1
• Definition: Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene.
• Disease Hierarchy:
  DISBHWUI: Autosomal dominant polycystic kidney disease
  DIS9FB3R: Polycystic kidney disease 1
• Disease Identifiers:
  MONDO ID: MONDO_0008263
  MESH ID: C566792
  UMLS CUI: C3149841
  OMIM ID: 173900
  MedGen ID: 461191

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 5 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HBA2	TTQO71U	Strong	Genetic Variation	[1]
PRKD1	TTSLUMT	Strong	Genetic Variation	[2]
SMYD2	TT7YJFO	Strong	Biomarker	[3]
TOP2B	TT4NVEM	Strong	Altered Expression	[4]
UCP3	TT12RJK	Strong	Genetic Variation	[5]

This Disease Is Related to 8 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CCNF	OTJFVU43	Strong	Genetic Variation	[6]
DOCK3	OTF3YS2W	Strong	Genetic Variation	[7]
FJX1	OT8SVTSS	Strong	Altered Expression	[8]
HBA1	OTW2BQF4	Strong	Genetic Variation	[1]
NPS	OTEG25A2	Strong	Altered Expression	[9]
PDHX	OTG7O271	Strong	Biomarker	[10]
TOPBP1	OT6UPZPD	Strong	Altered Expression	[4]
PKD1	OT5ALRZ5	Definitive	Autosomal dominant	[11]

References

• [1] Human-mouse homologies in the region of the polycystic kidney disease gene (PKD1).Genomics. 1992 May;13(1):35-8. doi: 10.1016/0888-7543(92)90198-2.
• [2] Heterotrimeric G protein signaling in polycystic kidney disease.Physiol Genomics. 2016 Jul 1;48(7):429-45. doi: 10.1152/physiolgenomics.00027.2016. Epub 2016 May 13.
• [3] Lysine methyltransferase SMYD2 promotes cyst growth in autosomal dominant polycystic kidney disease.J Clin Invest. 2017 Jun 30;127(7):2751-2764. doi: 10.1172/JCI90921. Epub 2017 Jun 12.
• [4] Altered gene expression pattern in cultured human breast cancer cells treated with hepatocyte growth factor/scatter factor in the setting of DNA damage.Cancer Res. 2001 Nov 1;61(21):8022-31.
• [5] Genetic risk for ischemic and hemorrhagic stroke.Arterioscler Thromb Vasc Biol. 2006 Aug;26(8):1920-5. doi: 10.1161/01.ATV.0000229694.97827.38. Epub 2006 Jun 1.
• [6] A novel cyclin gene (CCNF) in the region of the polycystic kidney disease gene (PKD1).Genomics. 1994 Nov 1;24(1):27-33. doi: 10.1006/geno.1994.1578.
• [7] The polycystic kidney disease 1 gene encodes a 14 kb transcript and lies within a duplicated region on chromosome 16. The European Polycystic Kidney Disease Consortium.Cell. 1994 Jun 17;77(6):881-94. doi: 10.1016/0092-8674(94)90137-6.
• [8] Toxic tubular injury in kidneys from Pkd1-deletion mice accelerates cystogenesis accompanied by dysregulated planar cell polarity and canonical Wnt signaling pathways.Hum Mol Genet. 2009 Jul 15;18(14):2532-42. doi: 10.1093/hmg/ddp190. Epub 2009 Apr 28.
• [9] Activation of Calcium-Sensing Receptor increases intracellular calcium and decreases cAMP and mTOR in PKD1 deficient cells.Sci Rep. 2018 Apr 9;8(1):5704. doi: 10.1038/s41598-018-23732-5.
• [10] Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers.Genomics. 1992 May;13(1):152-8. doi: 10.1016/0888-7543(92)90215-e.
• [11] The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.