Details of Disease

General Information of Disease (ID: DISJ9R1F)

Disease Name Multicystic dysplastic kidney
Synonyms multicystic renal dysplasia; MCDK
Definition
Multicystic dysplastic kidney (MCDK) is a congenital anomaly of the kidney and urinary tract (CAKUT) in which one or both kidneys (unilateral or bilateral MCDK respectively) are large, distended by multiple cysts, and non-functional.
Disease Hierarchy
DISQCXZX: Disorder of development or morphogenesis
DISRT1LM: Cystic kidney disease
DISJ9R1F: Multicystic dysplastic kidney
Disease Identifiers
MONDO ID
MONDO_0015988
MESH ID
D021782
UMLS CUI
C3714581
MedGen ID
811388
HPO ID
HP:0000003
Orphanet ID
1851
SNOMED CT ID
737562008

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DME Molecule(s)
Gene Name DME ID Evidence Level Mode of Inheritance REF
CYP4A11 DE2XQGW Limited Biomarker [1]
------------------------------------------------------------------------------------
This Disease Is Related to 4 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CDC5L OTTPFUU5 Limited Genetic Variation [2]
PAX2 OTKP1N8F Disputed Biomarker [3]
EYA1 OTHU807A Strong CausalMutation [4]
LHX1 OT6WI2XS Strong Biomarker [5]
------------------------------------------------------------------------------------

References

1 Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array.Nephrol Dial Transplant. 2016 Oct;31(10):1693-8. doi: 10.1093/ndt/gfv465. Epub 2016 Feb 29.
2 Rearrangement of the human CDC5L gene by a t(6;19)(p21;q13.1) in a patient with multicystic renal dysplasia.Genomics. 1998 Apr 15;49(2):218-29. doi: 10.1006/geno.1998.5254.
3 Multicystic dysplastic kidney and variable phenotype in a family with a novel deletion mutation of PAX2.J Am Soc Nephrol. 2005 Sep;16(9):2754-61. doi: 10.1681/ASN.2005030239. Epub 2005 Jul 27.
4 Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.Genet Med. 2017 Apr;19(4):412-420. doi: 10.1038/gim.2016.131. Epub 2016 Sep 22.
5 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.