Details of Disease

Disease Name

Congenital anomaly of kidney and urinary tract

CAKUT; congenital anomalies of kidney and urinary tract; congenital anomalies of the kidney and urinary tract; congenital anomaly of kidney and urinary tract; renal or urinary tract malformation

Definition

A urinary system disease characterized by structural malformations in the kidney and/or urinary tract containing vesicoureteral reflux.

Disease Hierarchy

DISNCQLA: Inherited kidney disorder

DIS7GG31: Developmental defect during embryogenesis

DIS84IVH: Congenital anomaly of kidney and urinary tract

Disease Identifiers

MONDO ID

MONDO_0019719

MESH ID

C566906

UMLS CUI

C1968949

MedGen ID

369894

Orphanet ID

93545

General Information of Disease (ID: DIS84IVH)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 26 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VWA2	OT09A414	Limited	Autosomal recessive	[1]
UPK3A	OTZDD7EI	Disputed	Autosomal dominant	[2]
ZMYM2	OT3DFP27	Strong	Autosomal dominant	[3]
CHD1L	OT7CZK7C	Limited	Autosomal dominant	[2]
DLG5	OTU9Z17K	Limited	Autosomal recessive	[1]
GEN1	OT1XFQXF	Limited	Biomarker	[10]
SIX2	OTYOVGSC	Limited	Biomarker	[11]
TBX6	OTW1Q8RM	Limited	Autosomal dominant	[1]
TSHZ3	OTAN7RY5	Limited	Autosomal dominant	[1]
SRGAP1	OTL89HGW	moderate	Biomarker	[12]
CHRNA3	OTCZQY1U	Strong	Genetic Variation	[13]
EMC1	OTYAH4LX	Strong	Genetic Variation	[14]
HNF1B	OTSYIC3T	Strong	Genetic Variation	[15]
NPHP3	OT8U8ELA	Strong	Genetic Variation	[16]
NRIP1	OTIZOJQV	Strong	CausalMutation	[17]
PAX2	OTKP1N8F	Strong	Genetic Variation	[18]
PBX1	OTORABGO	Strong	Biomarker	[19]
TBC1D1	OTI9V7B0	Strong	Biomarker	[20]
TRAP1	OTNG0L8J	Strong	Genetic Variation	[21]
DGCR8	OT62LXE4	Definitive	Biomarker	[22]
FREM1	OTMHRV87	Definitive	Genetic Variation	[23]
GREB1L	OTZTY5KQ	Definitive	Genetic Variation	[24]
HOXD11	OT9XGA4G	Definitive	Genetic Variation	[25]
MLXIP	OT30UNI7	Definitive	Altered Expression	[26]
MYL4	OTURFCSE	Definitive	Genetic Variation	[27]
ROBO2	OTFJ9FQW	Definitive	Altered Expression	[4]
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⏷ Show the Full List of 26 DOT(s)

This Disease Is Related to 7 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
SLIT2	TTDWK85	Limited	Altered Expression	[4]
BMP7	TTKOBRA	moderate	Biomarker	[5]
BMP4	TTD3BSX	Strong	Biomarker	[6]
LIFR	TTID542	Strong	CausalMutation	[7]
AGTR2	TTQVOEI	Definitive	Genetic Variation	[8]
CLCNKB	TTR68GQ	Definitive	Genetic Variation	[9]
SPRY1	TT0PSN6	Definitive	Altered Expression	[4]
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⏷ Show the Full List of 7 DTT(s)

References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
2	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.
3	Mutations of the Transcriptional Corepressor ZMYM2 Cause Syndromic Urinary Tract Malformations. Am J Hum Genet. 2020 Oct 1;107(4):727-742. doi: 10.1016/j.ajhg.2020.08.013. Epub 2020 Sep 4.
4	Intrauterine low-protein diet disturbs metanephric gene expression and induces urinary tract developmental abnormalities in mice.Biochem Biophys Res Commun. 2019 Jun 4;513(3):732-739. doi: 10.1016/j.bbrc.2019.04.057. Epub 2019 Apr 13.
5	A requirement for bone morphogenetic protein-7 during development of the mammalian kidney and eye.Genes Dev. 1995 Nov 15;9(22):2795-807. doi: 10.1101/gad.9.22.2795.
6	Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.Eur J Hum Genet. 2019 Mar;27(3):369-377. doi: 10.1038/s41431-018-0316-y. Epub 2018 Dec 19.
7	Mutations in the leukemia inhibitory factor receptor (LIFR) gene and Lifr deficiency cause urinary tract malformations.Hum Mol Genet. 2017 May 1;26(9):1716-1731. doi: 10.1093/hmg/ddx086.
8	Association of angiotensin type 2 receptor gene polymorphisms with ureteropelvic junction obstruction in Brazilian patients.Nephrology (Carlton). 2014 Nov;19(11):714-20. doi: 10.1111/nep.12308.
9	Bartter syndrome type III and congenital anomalies of the kidney and urinary tract: an antenatal presentation.Clin Nephrol. 2012 Dec;78(6):492-6. doi: 10.5414/cn107206.
10	Gen1 Modulates Metanephric Morphology Through Retinoic Acid Signaling.DNA Cell Biol. 2019 Mar;38(3):263-271. doi: 10.1089/dna.2018.4426. Epub 2019 Jan 11.
11	Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.Kidney Int. 2014 Jun;85(6):1429-33. doi: 10.1038/ki.2013.508. Epub 2014 Jan 15.
12	Mutations of the SLIT2-ROBO2 pathway genes SLIT2 and SRGAP1 confer risk for congenital anomalies of the kidney and urinary tract.Hum Genet. 2015 Aug;134(8):905-16. doi: 10.1007/s00439-015-1570-5. Epub 2015 May 31.
13	CAKUT and Autonomic Dysfunction Caused by Acetylcholine Receptor Mutations.Am J Hum Genet. 2019 Dec 5;105(6):1286-1293. doi: 10.1016/j.ajhg.2019.10.004. Epub 2019 Nov 7.
14	Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.
15	Clinical characteristics of HNF1B-related disorders in a Japanese population.Clin Exp Nephrol. 2019 Sep;23(9):1119-1129. doi: 10.1007/s10157-019-01747-0. Epub 2019 May 27.
16	Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am J Hum Genet. 2008 Apr;82(4):959-70. doi: 10.1016/j.ajhg.2008.02.017. Epub 2008 Mar 27.
17	A Dominant Mutation in Nuclear Receptor Interacting Protein 1 Causes Urinary Tract Malformations via Dysregulation of Retinoic Acid Signaling.J Am Soc Nephrol. 2017 Aug;28(8):2364-2376. doi: 10.1681/ASN.2016060694. Epub 2017 Apr 5.
18	Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT. Kidney Int. 2016 Feb;89(2):476-86. doi: 10.1038/ki.2015.319.
19	Prenatal findings and molecular cytogenetic analyses of a de novo interstitial deletion of 1q23.3 encompassing PBX1 gene.Taiwan J Obstet Gynecol. 2019 Mar;58(2):292-295. doi: 10.1016/j.tjog.2019.01.022.
20	Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).Hum Genet. 2016 Jan;135(1):69-87. doi: 10.1007/s00439-015-1610-1. Epub 2015 Nov 16.
21	Recessive mutations in CAKUT and VACTERL association.Kidney Int. 2014 Jun;85(6):1253-5. doi: 10.1038/ki.2013.495.
22	Targeted sequencing of 96 renal developmental microRNAs in 1213 individuals from 980 families with congenital anomalies of the kidney and urinary tract.Nephrol Dial Transplant. 2016 Aug;31(8):1280-3. doi: 10.1093/ndt/gfv447. Epub 2016 Jan 29.
23	Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.J Am Soc Nephrol. 2014 Sep;25(9):1917-22. doi: 10.1681/ASN.2013101103. Epub 2014 Apr 3.
24	Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.Am J Hum Genet. 2017 Nov 2;101(5):803-814. doi: 10.1016/j.ajhg.2017.09.026.
25	Absence of mutations in the HOXA11 and HOXD11 genes in children with congenital renal malformations.Pediatr Nephrol. 2009 Aug;24(8):1569-72. doi: 10.1007/s00467-009-1140-y. Epub 2009 Mar 3.
26	Transcriptome-wide based identification of miRs in congenital anomalies of the kidney and urinary tract (CAKUT) in children: the significant upregulation of tissue miR-144 expression.J Transl Med. 2016 Jun 30;14(1):193. doi: 10.1186/s12967-016-0955-0.
27	CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).Nephrol Dial Transplant. 2012 Jun;27(6):2355-64. doi: 10.1093/ndt/gfr649. Epub 2011 Dec 6.