Details of Disease

Disease Name

Renal hypoplasia

renal hypoplasia; renal hypoplasia (disease)

Definition

MONDO_0005240|MONDO_0021147

Disease Hierarchy

DISXWP4P: Nephropathy

DISJ5F10: Renal hypoplasia

Disease Identifiers

MONDO ID

MONDO_0019637

UMLS CUI

C0266295

MedGen ID

120571

HPO ID

HP:0000089

Orphanet ID

93101

SNOMED CT ID

32659003

General Information of Disease (ID: DISJ5F10)

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 4 Approved Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Furosemide	DMMQ8ZG	Approved	Small molecular drug	[1]
Simeprevir	DMLUA9D	Approved	Small molecular drug	[2]
Sitagliptin	DMGDKXN	Approved	Small molecular drug	[3]
Torasemide	DMXKJ6C	Approved	Small molecular drug	[4]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
HAAO	TTWON83	Strong	CausalMutation	[5]
KYNU	TTWQM3J	Strong	CausalMutation	[5]
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This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EBF1	OTZ61YYH	Strong	Biomarker	[6]
PAX2	OTKP1N8F	Strong	Genetic Variation	[7]
ROBO2	OTFJ9FQW	Strong	Genetic Variation	[8]
SOX8	OTEJXYZM	Definitive	Biomarker	[9]
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References

1	Furosemide FDA Label
2	Simeprevir FDA Label
3	Sitagliptin FDA Label
4	Torsemide. 2023 Jul 3. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 JanC.
5	NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
6	Early B Cell Factor 1 (EBF1) Regulates Glomerular Development by Controlling Mesangial Maturation and Consequently COX-2 Expression.J Am Soc Nephrol. 2019 Sep;30(9):1559-1572. doi: 10.1681/ASN.2018070699. Epub 2019 Aug 12.
7	New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature.BMC Nephrol. 2018 Sep 21;19(1):245. doi: 10.1186/s12882-018-1044-9.
8	ROBO2 gene variants in children with primary nonsyndromic vesicoureteral reflux with or without renal hypoplasia/dysplasia.Pediatr Res. 2016 Jul;80(1):72-6. doi: 10.1038/pr.2016.51. Epub 2016 Mar 22.
9	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.