ID
45486
Description
Principal Investigator: Ali G. Gharavi, MD, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA MeSH: Congenital Abnormalities,Chromosome Disorders,Kidney Diseases,Urologic Diseases https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs000565 We report a study of large rare, copy number variants (CNVs) in 192 patients with renal hypodysplasia (RHD). Congenital malformations of the kidney and urinary tract are present in 3 to 7 per 1,000 births, accounting for 16% of birth defects. These malformations account for 40-50% of pediatric and 7% of adult end-stage renal disease worldwide. Among these malformations, RHD represents a severe forms of disease with profound impact on long-term renal survival. We found that a significant fraction of RHD patients have a molecular diagnosis attributable to a genomic disorder, suggesting kidney malformations as a sentinel manifestation of pathogenic genomic imbalances.
Link
Keywords
Versions (2)
- 11/14/22 11/14/22 - Dr. med. Lucy Kessler
- 12/13/22 12/13/22 - Kristina Keller
Copyright Holder
Ali G. Gharavi, MD, Department of Medicine, Columbia University College of Physicians and Surgeons, New York, NY, USA
Uploaded on
December 13, 2022
DOI
To request one please log in.
License
Creative Commons BY 4.0
Model comments :
You can comment on the data model here. Via the speech bubbles at the itemgroups and items you can add comments to those specificially.
Itemgroup comments for :
Item comments for :
In order to download data models you must be logged in. Please log in or register for free.
dbGaP phs000565 Copy Number Variation in Congenital Kidney Malformations
Similar models
Eligibility Criteria
C0680251 (UMLS CUI [1,2])