Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic
Gene: ACE
Autosomal recessive renal tubular dysgenesis is a severe disorder of renal tubular development characterized by persistent fetal anuria and perinatal death, probably due to pulmonary hypoplasia from early-onset oligohydramnios. Absence or paucity of differentiated proximal tubules is the histopathologic hallmark of the disorder and may be associated with skull ossification defects. More than 60 families reported.
Sources: Expert listCreated: 30 Nov 2022, 10:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Renal tubular dysgenesis, MIM# 267430
Publications
Gene: ace has been classified as Green List (High Evidence).
Gene: ace has been classified as Green List (High Evidence).
gene: ACE was added gene: ACE was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Expert list Mode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ACE were set to PMID: 16116425, 22095942 Phenotypes for gene: ACE were set to Renal tubular dysgenesis, MIM# 267430 Review for gene: ACE was set to GREEN