Details of Disease

General Information of Disease (ID: DIS21V5M)

Disease Name Renal dysplasia, unilateral
Synonyms unilateral renal dysplasia
Definition
Unilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of one kidney is abnormal and incomplete. Unilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
Disease Hierarchy
DIS3DFGD: Renal dysplasia
DIS21V5M: Renal dysplasia, unilateral
Disease Identifiers
MONDO ID
MONDO_0019644
UMLS CUI
C0431697
MedGen ID
140916
HPO ID
HP:0008718
Orphanet ID
93172

Molecular Interaction Atlas (MIA) of This Disease

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

1 Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract. J Am Soc Nephrol. 2017 Oct;28(10):2901-2914. doi: 10.1681/ASN.2017010043. Epub 2017 May 31.