Details of Disease

General Information of Disease (ID: DIS3DFGD)

Disease Name Renal dysplasia
Synonyms renal dysplasia; renal dysplasia (disease)
Definition
Renal dysplasia is a form of renal malformation in which the kidney(s) are present but their development is abnormal and incomplete. Renal dysplasia can be unilateral or bilateral, segmental, and of variable severity, with renal aplasia corresponding to extreme dysplasia.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISXWP4P: Nephropathy
DIS3DFGD: Renal dysplasia
Disease Identifiers
MONDO ID
MONDO_0019638
UMLS CUI
C3536714
MedGen ID
760690
HPO ID
HP:0000110
Orphanet ID
93108
SNOMED CT ID
204949001

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 14 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
UPK3A OTZDD7EI Limited Autosomal dominant [1]
BNC2 OTU22H9Z Strong Biomarker [4]
CEP55 OTGSG2PA Strong Biomarker [5]
CITED1 OTUJQ3VL Strong Genetic Variation [6]
DACH1 OTMKNAGG Strong Genetic Variation [7]
EYA1 OTHU807A Strong Genetic Variation [2]
FIBP OTI7131S Strong Genetic Variation [8]
LHX1 OT6WI2XS Strong Altered Expression [9]
LMX1B OTM8145D Strong Genetic Variation [10]
MBTPS2 OT67CC7W Strong Biomarker [11]
SALL1 OTYYZGLH Strong Biomarker [12]
SIX2 OTYOVGSC Strong Altered Expression [13]
SRGAP1 OTL89HGW Strong Genetic Variation [14]
TBC1D1 OTI9V7B0 Strong Genetic Variation [15]
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⏷ Show the Full List of 14 DOT(s)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
CDCA8 TT04YCM Strong Genetic Variation [2]
GATA3 TT45KOB Definitive Genetic Variation [3]
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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 The earpits-deafness syndrome. Clinical and genetic aspects.Int J Pediatr Otorhinolaryngol. 1980 Nov;2(4):309-22. doi: 10.1016/0165-5876(80)90036-1.
3 Lung squamous cell carcinoma associated with hypoparathyroidism with sensorineural deafness and renal dysplasia syndrome: a case report.Onco Targets Ther. 2018 Mar 20;11:1595-1599. doi: 10.2147/OTT.S161420. eCollection 2018.
4 Congenital urinary tract obstruction.Best Pract Res Clin Obstet Gynaecol. 2019 Jul;58:78-92. doi: 10.1016/j.bpobgyn.2019.01.003. Epub 2019 Jan 11.
5 An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia.Eur J Hum Genet. 2019 Apr;27(4):657-662. doi: 10.1038/s41431-018-0306-0. Epub 2019 Jan 8.
6 Placental insufficiency associated with loss of Cited1 causes renal medullary dysplasia.J Am Soc Nephrol. 2009 Apr;20(4):777-86. doi: 10.1681/ASN.2008050547. Epub 2009 Mar 18.
7 Double homozygous missense mutations in DACH1 and BMP4 in a patient with bilateral cystic renal dysplasia.Nephrol Dial Transplant. 2013 Jan;28(1):227-32. doi: 10.1093/ndt/gfs539. Epub 2012 Dec 21.
8 A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene. Am J Med Genet A. 2016 Aug;170(8):2111-8. doi: 10.1002/ajmg.a.37741. Epub 2016 May 17.
9 Lim1, an embryonal transcription factor, is absent in multicystic renal dysplasia, but reactivated in nephroblastomas.Pathobiology. 2011;78(4):210-9. doi: 10.1159/000326769. Epub 2011 Jul 19.
10 Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome.Nat Genet. 1998 May;19(1):47-50. doi: 10.1038/ng0598-47.
11 Recurrent splice-site mutation in MBTPS2 underlying IFAP syndrome with Olmsted syndrome-like features in a Chinese patient.Clin Exp Dermatol. 2014 Mar;39(2):158-61. doi: 10.1111/ced.12248. Epub 2013 Dec 7.
12 Expression profiles of congenital renal dysplasia reveal new insights into renal development and disease.Pediatr Nephrol. 2007 Jul;22(7):962-74. doi: 10.1007/s00467-007-0466-6. Epub 2007 Apr 21.
13 The pluripotent renal stem cell regulator SIX2 is activated in renal neoplasms and influences cellular proliferation and migration.Hum Pathol. 2013 Mar;44(3):336-45. doi: 10.1016/j.humpath.2012.05.021. Epub 2012 Sep 17.
14 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.
15 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.