Renal Macrocystic Disease
Gene: UGGT1
PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants and CDG/multisystem disorder with clinical features including GDD/ID,
microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).Supportive functional evidence also provided.
Of note, two individuals reported with cystic renal dysplasia and hepatobiliary anomalies that were similar in apperaance to ARPKD.
Sources: LiteratureCreated: 30 Apr 2025, 1:08 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG
Publications
Gene: uggt1 has been classified as Amber List (Moderate Evidence).
Gene: uggt1 has been classified as Amber List (Moderate Evidence).
Gene: uggt1 has been classified as Amber List (Moderate Evidence).
gene: UGGT1 was added gene: UGGT1 was added to Renal Macrocystic Disease. Sources: Literature Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGGT1 were set to PMID:40267907 Phenotypes for gene: UGGT1 were set to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG Review for gene: UGGT1 was set to AMBER