Details of Disease

General Information of Disease (ID: DIS27M3V)

Disease Name Renal dysplasia, bilateral
Synonyms bilateral renal dysplasia
Definition
Bilateral renal dysplasia is a form of renal dysplasia (RD), a renal tract malformation in which the development of both kidneys is abnormal and incomplete. Bilateral RD can be segmental, and of variable severity, with renal aplasia corresponding to extreme RD.
Disease Hierarchy
DIS3DFGD: Renal dysplasia
DIS27M3V: Renal dysplasia, bilateral
Disease Identifiers
MONDO ID
MONDO_0019645
UMLS CUI
C0431698
MedGen ID
609101
HPO ID
HP:0012582
Orphanet ID
93173
SNOMED CT ID
204950001

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]
CHD1L OT7CZK7C Strong Genetic Variation [2]
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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.
2 Detection of a familial 1q21.1 microdeletion and concomitant CHD1L mutation in a fetus with oligohydramnios and bilateral renal dysplasia on prenatal ultrasound.Taiwan J Obstet Gynecol. 2019 Nov;58(6):859-863. doi: 10.1016/j.tjog.2019.07.031.