Details of Disease

General Information of Disease (ID: DIS2M6PD)

Disease Name Congenital anomalies of kidney and urinary tract 1
Synonyms
renal hypodysplasia, nonsyndromic, 1; DSTYK congenital anomaly of kidney and urinary tract; CAKUT1; congenital anomaly of kidney and urinary tract caused by mutation in DSTYK; congenital anomalies of kidney and urinary tract 1
Definition Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the DSTYK gene.
Disease Hierarchy
DIS84IVH: Congenital anomaly of kidney and urinary tract
DIS2M6PD: Congenital anomalies of kidney and urinary tract 1
Disease Identifiers
MONDO ID
MONDO_0012561
MESH ID
C563661
UMLS CUI
C1835826
OMIM ID
610805
MedGen ID
322763

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
DSTYK OTUL75IR Definitive Autosomal dominant [1]
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References

1 Mutations in DSTYK and dominant urinary tract malformations. N Engl J Med. 2013 Aug 15;369(7):621-9. doi: 10.1056/NEJMoa1214479. Epub 2013 Jul 17.