PBX1, PBX homeobox 1, 5087

N. diseases: 167; N. variants: 14
Disease: Bilateral renal hypoplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		0.310 GeneticVariation disease BEFREE The shared phenotypes between this case and the previously published prenatal cases demonstrate that loss of function mutation in PBX1 should be suspicious in fetus with bilateral renal hypoplasia, oligohydramnios and intrauterine growth retardation (IUGR). 30910156 2019
CUI: C0431692
Disease: Bilateral renal hypoplasia
Bilateral renal hypoplasia 		0.310 ChromosomalRearrangement disease ORPHANET PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans. 28270404 2017