Renal Ciliopathies and Nephronophthisis

Gene: CEP83

Green List (high evidence)

PMID 24882706: 8 children from 7 families with early-onset nephronophthisis resulting in end-stage renal disease between 1 and 4 years of age. Four patients also had neurologic problems, including speech delay, intellectual disability, and/or hydrocephalus. One patient had retinitis, another had strabismus, and 2 had liver changes, including hepatic cytolysis, cholestasis, and portal septal fibrosis.

PMID 33938610: two unrelated individuals with retinal dystrophy and no renal disease.

Created: 2 Jul 2021, 9:51 a.m. | Last Modified: 2 Jul 2021, 9:51 a.m.

Panel Version: 0.171

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephronophthisis 18, MIM# 615862; MONDO:0014374; Retinal dystrophy; ID

Publications

• 24882706
• 33938610