Details of Disease

General Information of Disease (ID: DISUYQ0C)

Disease Name Unilateral multicystic dysplastic kidney
Synonyms unilateral multicystic renal dysplasia; unilateral MCDK
Definition
Unilateral multicystic dysplastic kidney is the form of multicystic dysplastic kidney (MCDK), a congenital anomaly of the kidney and urinary tract (CAKUT), in which one kidney is large, distended by multiple cysts, and non-functional.
Disease Hierarchy
DISJ9R1F: Multicystic dysplastic kidney
DISUYQ0C: Unilateral multicystic dysplastic kidney
Disease Identifiers
MONDO ID
MONDO_0019981
MESH ID
D021782
UMLS CUI
C1567426
MedGen ID
292613
Orphanet ID
97363
SNOMED CT ID
1187460003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
HNF1B OTSYIC3T Supportive Autosomal dominant [1]
CDAN1 OTCVZRG6 Strong Genetic Variation [2]
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References

1 HNF1B alterations associated with congenital anomalies of the kidney and urinary tract. Pediatr Nephrol. 2010 Jun;25(6):1073-9. doi: 10.1007/s00467-010-1454-9. Epub 2010 Feb 13.
2 Dyserythropoiesis in a child with pyruvate kinase deficiency and coexistent unilateral multicystic dysplastic kidney.Pediatr Blood Cancer. 2014 Aug;61(8):1463-5. doi: 10.1002/pbc.24953. Epub 2014 Jan 30.