Details of Disease

General Information of Disease (ID: DISOH8XN)

• Disease Name: Renal hypodysplasia/aplasia 1
• Synonyms: hereditary renal aplasia; renal dysplasia, megalocystis, and sirenomelia; renal adysplasia; renal aplasia; Selig Benacerraf Greene syndrome; renal agenesis; RHDA1; renal hypodysplasia/aplasia 1
• Disease Hierarchy:
  DIS0M9AF: Renal agenesis
  DISOH8XN: Renal hypodysplasia/aplasia 1
• Disease Identifiers:
  MONDO ID: MONDO_0024519
  MESH ID: C563261
  UMLS CUI: C1619700
  OMIM ID: 191830
  MedGen ID: 301437

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
RET	TTY0WT7	Limited	Autosomal recessive	[1]
RET	TT4DXQT	Limited	Genetic Variation	[2]
ITGA8	TT1FW8B	Strong	Autosomal recessive	[1]
ITGA8	TT1FW8B	Strong	Genetic Variation	[3]

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MARS1	DE0K52I	Strong	Biomarker	[4]

This Disease Is Related to 14 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
RET	OTLU040A	Limited	Autosomal recessive	[1]
FRAS1	OTLPESF3	Strong	Biomarker	[5]
GREB1L	OTZTY5KQ	Strong	Genetic Variation	[6]
ITGA8	OTBH8WFD	Strong	Autosomal recessive	[1]
SLA2	OTNVE666	Strong	Biomarker	[4]
ANOS1	OTZJT4KN	Definitive	Biomarker	[7]
FREM1	OTMHRV87	Definitive	Biomarker	[8]
FREM2	OTEK6BZR	Definitive	Biomarker	[8]
GEN1	OT1XFQXF	Definitive	Genetic Variation	[9]
HOXD11	OT9XGA4G	Definitive	Genetic Variation	[10]
IFT27	OT3NY6O6	Definitive	Genetic Variation	[11]
NOTUM	OT03MYQ2	Definitive	Biomarker	[12]
SERPINA4	OTBK0GG7	Definitive	Genetic Variation	[13]
SOX8	OTEJXYZM	Definitive	Biomarker	[14]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.
• [2] 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.
• [3] 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.
• [4] Indications for MARS-MRI in Patients Treated With Metal-on-Metal Hip Resurfacing Arthroplasty.J Arthroplasty. 2018 Jun;33(6):1919-1925. doi: 10.1016/j.arth.2018.01.024. Epub 2018 Feb 2.
• [5] 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.
• [6] Whole-exome sequencing identifies a GREB1L variant in a three-generation family with Mllerian and renal agenesis: a novel candidate gene in Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome. A case report.Hum Reprod. 2019 Sep 29;34(9):1838-1846. doi: 10.1093/humrep/dez126.
• [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] 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.
• [9] 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.
• [10] 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.
• [11] 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.
• [12] Dentin Dysplasia in Notum Knockout Mice.Vet Pathol. 2016 Jul;53(4):853-62. doi: 10.1177/0300985815626778. Epub 2016 Feb 29.
• [13] Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.Hum Mol Genet. 1993 Apr;2(4):373-7. doi: 10.1093/hmg/2.4.373.
• [14] 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.