Details of Disease | DrugMAP

General Information of Disease (ID: DISF9QYE)

Disease Name	Congenital anomalies of kidney and urinary tract 2
Synonyms	CAKUT2; pelviureteric junction obstruction; ureteropelvic junction obstruction; hydronephrosis due to Pujo; multicystic renal dysplasia, bilateral; congenital anomaly of kidney and urinary tract caused by mutation in TBX18; congenital anomalies of kidney and urinary tract 2; congenital anomalies of kidney and urinary tract type 2; TBX18 congenital anomaly of kidney and urinary tract
Definition	Any congenital anomaly of kidney and urinary tract in which the cause of the disease is a mutation in the TBX18 gene.
Disease Hierarchy	DIS84IVH: Congenital anomaly of kidney and urinary tract DISF9QYE: Congenital anomalies of kidney and urinary tract 2
Disease Identifiers	MONDO ID MONDO_0027676 UMLS CUI C5574705 OMIM ID 143400 MedGen ID 1804316

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
TBX18	OT3BEBLN	Strong	Autosomal dominant	[1]
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References

1	Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development. Am J Hum Genet. 2015 Aug 6;97(2):291-301. doi: 10.1016/j.ajhg.2015.07.001. Epub 2015 Jul 30.