Details of Disease

General Information of Disease (ID: DISOR5IA)

• Disease Name: Bilateral renal agenesis
• Synonyms: renal agenesis, bilateral; bilateral renal aplasia; Renal Agenesis, Bilateral
• Definition: Bilateral renal agenesis is the most profound form of renal agenesis, characterized by complete absence of kidney development, absent ureters and subsequent absence of fetal renal function resulting in Potter sequence with pulmonary hypoplasia related to oligohydramnios, which is fatal shortly after birth.
• Disease Hierarchy:
  DIS0M9AF: Renal agenesis
  DISOR5IA: Bilateral renal agenesis
• Disease Identifiers:
  MONDO ID: MONDO_0015986
  MESH ID: C536482
  UMLS CUI: C1609433
  MedGen ID: 296299
  HPO ID: HP:0010958
  Orphanet ID: 1848

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 4 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ITGA8	TT1FW8B	Supportive	Autosomal recessive	[1]
RET	TTY0WT7	Supportive	Autosomal recessive	[2]
ITGA8	TT1FW8B	Strong	Genetic Variation	[1]
RET	TT4DXQT	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
DHCR7	DEL7GFA	Strong	Genetic Variation	[4]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FGF20	OTJIQ8YZ	Supportive	Autosomal recessive	[5]
GREB1L	OTZTY5KQ	Supportive	Autosomal recessive	[6]
ITGA8	OTBH8WFD	Supportive	Autosomal recessive	[1]
RET	OTLU040A	Supportive	Autosomal recessive	[2]
ANOS1	OTZJT4KN	Strong	Biomarker	[7]
FRAS1	OTLPESF3	Strong	Biomarker	[8]
FREM1	OTMHRV87	Strong	Biomarker	[9]
FREM2	OTEK6BZR	Strong	Biomarker	[10]
SIX1	OT70YYWM	Strong	Biomarker	[11]
GEN1	OT1XFQXF	Definitive	Genetic Variation	[12]
HOXD11	OT9XGA4G	Definitive	Genetic Variation	[13]
IFT27	OT3NY6O6	Definitive	Genetic Variation	[14]
NOTUM	OT03MYQ2	Definitive	Biomarker	[15]
SOX8	OTEJXYZM	Definitive	Biomarker	[16]

References

• [1] Integrin alpha 8 recessive mutations are responsible for bilateral renal agenesis in humans. Am J Hum Genet. 2014 Feb 6;94(2):288-94. doi: 10.1016/j.ajhg.2013.12.017. Epub 2014 Jan 16.
• [2] Renal aplasia in humans is associated with RET mutations. Am J Hum Genet. 2008 Feb;82(2):344-51. doi: 10.1016/j.ajhg.2007.10.008. Epub 2008 Jan 31.
• [3] A MEN2A family with two asymptomatic carriers affected by unilateral renal agenesis.Endocr J. 2014;61(1):19-23. doi: 10.1507/endocrj.ej13-0335. Epub 2013 Oct 22.
• [4] Smith-Lemli-Opitz syndrome - Fetal phenotypes with special reference to the syndrome-specific internal malformation pattern.Birth Defects Res. 2020 Jan 15;112(2):175-185. doi: 10.1002/bdr2.1620. Epub 2019 Dec 16.
• [5] FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell. 2012 Jun 12;22(6):1191-207. doi: 10.1016/j.devcel.2012.04.018.
• [6] Exome-wide Association Study Identifies GREB1L Mutations in Congenital Kidney Malformations. Am J Hum Genet. 2017 Nov 2;101(5):789-802. doi: 10.1016/j.ajhg.2017.09.018.
• [7] Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.Fertil Steril. 2007 Nov;88(5):1311-7. doi: 10.1016/j.fertnstert.2006.12.044. Epub 2007 Jul 2.
• [8] Sprouty1 haploinsufficiency prevents renal agenesis in a model of Fraser syndrome.J Am Soc Nephrol. 2012 Nov;23(11):1790-6. doi: 10.1681/ASN.2012020146. Epub 2012 Oct 11.
• [9] Deficiency of FRAS1-related extracellular matrix 1 (FREM1) causes congenital diaphragmatic hernia in humans and mice.Hum Mol Genet. 2013 Mar 1;22(5):1026-38. doi: 10.1093/hmg/dds507. Epub 2012 Dec 5.
• [10] The role of Fras1/Frem proteins in the structure and function of basement membrane.Int J Biochem Cell Biol. 2011 Apr;43(4):487-95. doi: 10.1016/j.biocel.2010.12.016. Epub 2010 Dec 21.
• [11] SIX1 acts synergistically with TBX18 in mediating ureteral smooth muscle formation.Development. 2010 Mar;137(5):755-65. doi: 10.1242/dev.045757. Epub 2010 Jan 28.
• [12] Disruption of Gen1 Causes Congenital Anomalies of the Kidney and Urinary Tract in Mice.Int J Biol Sci. 2018 Jan 1;14(1):10-20. doi: 10.7150/ijbs.22768. eCollection 2018.
• [13] 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.
• [14] Loss of function IFT27 variants associated with an unclassified lethal fetal ciliopathy with renal agenesis.Am J Med Genet A. 2018 Jul;176(7):1610-1613. doi: 10.1002/ajmg.a.38685. Epub 2018 Apr 27.
• [15] Dentin Dysplasia in Notum Knockout Mice.Vet Pathol. 2016 Jul;53(4):853-62. doi: 10.1177/0300985815626778. Epub 2016 Feb 29.
• [16] SOX9 controls epithelial branching by activating RET effector genes during kidney development.Hum Mol Genet. 2011 Mar 15;20(6):1143-53. doi: 10.1093/hmg/ddq558. Epub 2011 Jan 6.