HNF1B, HNF1 homeobox B, 6928

N. diseases: 279; N. variants: 72
Disease: Prune Belly Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033770
Disease: Prune Belly Syndrome
Prune Belly Syndrome 		0.010 Biomarker disease BEFREE Based on its expression pattern and the observation of two affected cases, we propose that haploinsufficiency of hepatocyte nuclear factor-1-beta may be causally related to the production of the prune belly syndrome phenotype through a mechanism of prostatic and ureteral hypoplasia that results in severe obstructive uropathy with urinary tract and abdominal distension. 20175044 2010