Details of Disease

General Information of Disease (ID: DIS53ZJ8)

Disease Name Renal agenesis, unilateral
Synonyms congenital single kidney; unilateral renal agenesis; congenital solitary kidney
Definition Unilateral renal agenesis (URA) is a form of renal agenesis characterized by the complete absence of development of one kidney accompanied by an absent ureter.
Disease Hierarchy
DIS0M9AF: Renal agenesis
DIS53ZJ8: Renal agenesis, unilateral
Disease Identifiers
MONDO ID
MONDO_0019636
MESH ID
D000075529
UMLS CUI
C0266294
MedGen ID
75607
HPO ID
HP:0000122
Orphanet ID
93100

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UPK3A OTZDD7EI Supportive Autosomal dominant [1]
BMP4 OTPZMDFH Supportive Autosomal dominant [2]
DSTYK OTUL75IR Supportive Autosomal dominant [5]
FRAS1 OTLPESF3 Supportive Autosomal dominant [2]
FREM1 OTMHRV87 Supportive Autosomal dominant [6]
FREM2 OTEK6BZR Supportive Autosomal dominant [2]
GREB1L OTZTY5KQ Supportive Autosomal dominant [7]
RET OTLU040A Supportive Autosomal dominant [2]
ADGRG2 OTPAD5S1 moderate Biomarker [8]
SERPINA4 OTBK0GG7 moderate Genetic Variation [9]
ANOS1 OTZJT4KN Strong Genetic Variation [10]
RAPGEF5 OT53VS75 Strong Biomarker [11]
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⏷ Show the Full List of 12 DOT(s)
This Disease Is Related to 5 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
BMP4 TTD3BSX Supportive Autosomal dominant [2]
RET TTY0WT7 Supportive Autosomal dominant [2]
BMP4 TTD3BSX Strong GermlineCausalMutation [2]
KYNU TTWQM3J Strong CausalMutation [3]
RET TT4DXQT Strong Genetic Variation [4]
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References

1 De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure. J Am Soc Nephrol. 2005 Jul;16(7):2141-9. doi: 10.1681/ASN.2004090776. Epub 2005 May 11.
2 Identification of two novel CAKUT-causing genes by massively parallel exon resequencing of candidate genes in patients with unilateral renal agenesis. Kidney Int. 2012 Jan;81(2):196-200. doi: 10.1038/ki.2011.315. Epub 2011 Sep 7.
3 NAD Deficiency, Congenital Malformations, and Niacin Supplementation. N Engl J Med. 2017 Aug 10;377(6):544-552.
4 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.
5 Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17.
6 Clinical implications of the solitary functioning kidney. Clin J Am Soc Nephrol. 2014 May;9(5):978-86. doi: 10.2215/CJN.08900813. Epub 2013 Dec 26.
7 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.
8 Novel ADGRG2 truncating variants in patients with X-linked congenital absence of vas deferens.Andrology. 2020 May;8(3):618-624. doi: 10.1111/andr.12744. Epub 2019 Dec 26.
9 Renal abnormalities in patients with Kallmann syndrome.BJU Int. 1999 Mar;83(4):383-6. doi: 10.1046/j.1464-410x.1999.00027.x.
10 Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.Orphanet J Rare Dis. 2015 Jun 9;10:71. doi: 10.1186/s13023-015-0287-9.
11 Retrospective study to identify risk factors for chronic kidney disease in children with congenital solitary functioning kidney detected by neonatal renal ultrasound screening.Medicine (Baltimore). 2018 Aug;97(32):e11819. doi: 10.1097/MD.0000000000011819.