Details of Disease

Disease Name

Cystic kidney disease

renal cyst; kidney cyst; cystic renal disease

Definition

A congenital or acquired kidney disorder characterized by the presence of renal cysts.

Disease Hierarchy

DISXWP4P: Nephropathy

DISRT1LM: Cystic kidney disease

Disease Identifiers

MONDO ID

MONDO_0002473

MESH ID

D052177

UMLS CUI

C3887499

MedGen ID

854361

HPO ID

HP:0000107

SNOMED CT ID

722223000

General Information of Disease (ID: DISRT1LM)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 11 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ANO1	TTOJI4S	Limited	Altered Expression	[1]
CEP290	TT3XBOV	Limited	Genetic Variation	[2]
HNF1A	TT01M3K	Limited	Genetic Variation	[3]
HNF4A	TT2F3CD	Limited	Biomarker	[4]
PRKD1	TTSLUMT	Limited	Genetic Variation	[5]
FABP1	TTIV96N	Strong	Biomarker	[6]
FKBP1A	TTMW94E	Strong	Biomarker	[7]
HSD17B1	TTIWB6L	Strong	Genetic Variation	[8]
NOTCH2	TT82FVD	Strong	Genetic Variation	[9]
PDE1A	TT73TEJ	Strong	Genetic Variation	[10]
SMYD2	TT7YJFO	Strong	Biomarker	[11]
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⏷ Show the Full List of 11 DTT(s)

This Disease Is Related to 31 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ALG6	OTZRVUH4	Limited	Autosomal dominant	[12]
PAX2	OTKP1N8F	Limited	Biomarker	[13]
IQCB1	OTYQ28V9	moderate	Biomarker	[14]
SDCCAG8	OTV2ZGV9	moderate	Biomarker	[15]
TMEM231	OTF4UYIE	moderate	Biomarker	[16]
ANKS6	OT6DXD3Q	Strong	Biomarker	[17]
ARL13B	OT9PYPV1	Strong	Biomarker	[18]
CLUAP1	OTESP4WL	Strong	Biomarker	[19]
CYS1	OTUXN7CO	Strong	Biomarker	[20]
DLG5	OTU9Z17K	Strong	Biomarker	[21]
FAN1	OT1LM1HZ	Strong	Biomarker	[22]
FH	OTEQWU6Q	Strong	Genetic Variation	[23]
FLCN	OTVM78XM	Strong	Genetic Variation	[24]
GLIS3	OTBC960E	Strong	Biomarker	[25]
HNF1B	OTSYIC3T	Strong	Genetic Variation	[26]
IFT88	OTDR3VBD	Strong	Biomarker	[20]
INPP5E	OTJF2AZ9	Strong	Biomarker	[16]
IQCE	OTESYUOO	Strong	Biomarker	[27]
KIF3A	OTMUBSSK	Strong	Altered Expression	[28]
LAMA5	OTIIXE4M	Strong	Altered Expression	[29]
NUP133	OTC294HE	Strong	Biomarker	[30]
PIGR	OT6GLSUL	Strong	Biomarker	[31]
PKD1	OT5ALRZ5	Strong	Biomarker	[32]
PKD2	OTIXBU8H	Strong	Biomarker	[33]
PKHD1	OTAH8SMF	Strong	Genetic Variation	[26]
SIX2	OTYOVGSC	Strong	Genetic Variation	[34]
SON	OT9VWV18	Strong	Genetic Variation	[35]
TESC	OTI8C76M	Strong	Genetic Variation	[36]
TSC1	OTFF4YZ7	Strong	Biomarker	[37]
TSC2	OT47LWI9	Strong	Altered Expression	[38]
TTC21B	OTXXA87U	Strong	CausalMutation	[39]
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⏷ Show the Full List of 31 DOT(s)

References

1	Lipid Peroxidation Drives Renal Cyst Growth In Vitro through Activation of TMEM16A.J Am Soc Nephrol. 2019 Feb;30(2):228-242. doi: 10.1681/ASN.2018010039. Epub 2019 Jan 3.
2	CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.Hum Mol Genet. 2008 Dec 1;17(23):3796-805. doi: 10.1093/hmg/ddn277. Epub 2008 Sep 4.
3	Maturity onset diabetes of the young: clinical characteristics and outcome after kidney and pancreas transplantation in MODY3 and RCAD patients: a single center experience.Transpl Int. 2012 May;25(5):564-72. doi: 10.1111/j.1432-2277.2012.01458.x. Epub 2012 Mar 21.
4	Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.J Med Genet. 2006 Jan;43(1):84-90. doi: 10.1136/jmg.2005.032854. Epub 2005 Jun 1.
5	Papillary renal cell carcinoma with a somatic mutation in MET in a patient with autosomal dominant polycystic kidney disease.Cancer Genet. 2016 Jan-Feb;209(1-2):11-20. doi: 10.1016/j.cancergen.2015.11.002. Epub 2015 Dec 1.
6	Evaluation of liver-type fatty acid binding protein (L-FABP) and interleukin 6 in children with renal cysts.Adv Clin Exp Med. 2019 Dec;28(12):1675-1682. doi: 10.17219/acem/110312.
7	Effects of PEP-1-FK506BP on cyst formation in polycystic kidney disease.BMB Rep. 2017 Sep;50(9):460-465. doi: 10.5483/bmbrep.2017.50.9.090.
8	Private inherited microdeletion/microduplications: implications in clinical practice.Eur J Med Genet. 2008 Sep-Oct;51(5):409-16. doi: 10.1016/j.ejmg.2008.06.003. Epub 2008 Jul 9.
9	Notch signaling in human development and disease.Semin Cell Dev Biol. 2012 Jun;23(4):450-7. doi: 10.1016/j.semcdb.2012.01.010. Epub 2012 Jan 28.
10	PDE1A polymorphism contributes to the susceptibility of nephrolithiasis.BMC Genomics. 2017 Dec 20;18(1):982. doi: 10.1186/s12864-017-4247-8.
11	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.
12	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
13	Reduced Pax2 gene dosage increases apoptosis and slows the progression of renal cystic disease.Dev Biol. 2000 Mar 15;219(2):250-8. doi: 10.1006/dbio.2000.9618.
14	Specific retinal phenotype in early IQCB1-related disease.Eye (Lond). 2018 Mar;32(3):646-651. doi: 10.1038/eye.2017.283. Epub 2017 Dec 8.
15	Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy. Nat Genet. 2010 Oct;42(10):840-50. doi: 10.1038/ng.662. Epub 2010 Sep 12.
16	TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone. J Cell Biol. 2015 Apr 13;209(1):129-42. doi: 10.1083/jcb.201411087.
17	The SAM domain of ANKS6 has different interacting partners and mutations can induce different cystic phenotypes.Kidney Int. 2015 Aug;88(2):299-310. doi: 10.1038/ki.2015.122. Epub 2015 Jun 3.
18	Deletion of ADP Ribosylation Factor-Like GTPase 13B Leads to Kidney Cysts.J Am Soc Nephrol. 2016 Dec;27(12):3628-3638. doi: 10.1681/ASN.2015091004. Epub 2016 May 6.
19	Qilin is essential for cilia assembly and normal kidney development in zebrafish.PLoS One. 2011;6(11):e27365. doi: 10.1371/journal.pone.0027365. Epub 2011 Nov 15.
20	Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.Hum Mol Genet. 2009 Jul 1;18(13):2328-43. doi: 10.1093/hmg/ddp165. Epub 2009 Apr 3.
21	Failure of epithelial tube maintenance causes hydrocephalus and renal cysts in Dlg5-/- mice.Dev Cell. 2007 Sep;13(3):338-50. doi: 10.1016/j.devcel.2007.07.017.
22	FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair. Nat Genet. 2012 Jul 8;44(8):910-5. doi: 10.1038/ng.2347.
23	Renal cell carcinoma in young FH mutation carriers: case series and review of the literature.Fam Cancer. 2020 Jan;19(1):55-63. doi: 10.1007/s10689-019-00155-3.
24	Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer.BMC Med Genet. 2017 May 12;18(1):53. doi: 10.1186/s12881-017-0416-5.
25	Glis3 is associated with primary cilia and Wwtr1/TAZ and implicated in polycystic kidney disease.Mol Cell Biol. 2009 May;29(10):2556-69. doi: 10.1128/MCB.01620-08. Epub 2009 Mar 9.
26	Imaging of Kidney Cysts and Cystic Kidney Diseases in Children: An International Working Group Consensus Statement.Radiology. 2019 Mar;290(3):769-782. doi: 10.1148/radiol.2018181243. Epub 2019 Jan 1.
27	Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.Hum Mutat. 2020 Jan;41(1):240-254. doi: 10.1002/humu.23924. Epub 2019 Oct 17.
28	Acute kidney injury and aberrant planar cell polarity induce cyst formation in mice lacking renal cilia.Hum Mol Genet. 2008 Jun 1;17(11):1578-90. doi: 10.1093/hmg/ddn045. Epub 2008 Feb 9.
29	COL4A5 and LAMA5 variants co-inherited in familial hematuria: digenic inheritance or genetic modifier effect?.BMC Nephrol. 2018 May 16;19(1):114. doi: 10.1186/s12882-018-0906-5.
30	Moderate Nucleoporin 133 deficiency leads to glomerular damage in zebrafish.Sci Rep. 2019 Mar 18;9(1):4750. doi: 10.1038/s41598-019-41202-4.
31	Exploitation of the Polymeric Immunoglobulin Receptor for Antibody Targeting to Renal Cyst Lumens in Polycystic Kidney Disease.J Biol Chem. 2015 Jun 19;290(25):15679-15686. doi: 10.1074/jbc.M114.607929. Epub 2015 Apr 28.
32	The role of DNA damage as a therapeutic target in autosomal dominant polycystic kidney disease.Expert Rev Mol Med. 2019 Nov 26;21:e6. doi: 10.1017/erm.2019.6.
33	Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model.Nat Commun. 2019 Sep 6;10(1):4072. doi: 10.1038/s41467-019-12067-y.
34	Should SIX2 be routinely tested in patients with isolated congenital abnormalities of kidneys and/or urinary tract (CAKUT)?.Eur J Med Genet. 2012 Dec;55(12):688-9. doi: 10.1016/j.ejmg.2012.06.003. Epub 2012 Jul 15.
35	SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renalphenotypes.Kidney Int. 2019 Jun;95(6):1494-1504. doi: 10.1016/j.kint.2019.01.025. Epub 2019 Mar 15.
36	Diagnosis of tuberous sclerosis complex in the fetus.Eur J Paediatr Neurol. 2018 Nov;22(6):1027-1034. doi: 10.1016/j.ejpn.2018.08.005. Epub 2018 Sep 12.
37	Screening for TSC1 and TSC2 mutations using NGS in Greek children with tuberous sclerosis syndrome.Eur J Paediatr Neurol. 2018 May;22(3):419-426. doi: 10.1016/j.ejpn.2018.01.026. Epub 2018 Feb 9.
38	Inactivation of Tsc2 in Mesoderm-Derived Cells Causes Polycystic Kidney Lesions and Impairs Lung Alveolarization.Am J Pathol. 2016 Dec;186(12):3261-3272. doi: 10.1016/j.ajpath.2016.08.013. Epub 2016 Oct 18.
39	Contribution of the TTC21B gene to glomerular and cystic kidney diseases.Nephrol Dial Transplant. 2017 Jan 1;32(1):151-156. doi: 10.1093/ndt/gfv453.