You are using an outdated browser. Please upgrade your browser to improve your experience.

oculocerebrorenal syndrome

Disease Summary
Associated Targets (4)
Tbio

3

Tdark

1


GARD Rare
Mondo Description Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Uniprot Description X-linked multisystem disorder affecting eyes, nervous system, and kidney. It is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, aminoaciduria, and reduced ammonia production by the kidney. Ocular abnormalities include cataract, glaucoma, microphthalmos, and decreased visual acuity. Developmental delay, hypotonia, behavior abnormalities, and areflexia are also present. Renal tubular involvement is characterized by impaired reabsorption of bicarbonate, amino acids, and phosphate. Musculoskeletal abnormalities such as joint hypermobility, dislocated hips, and fractures may develop as consequences of renal tubular acidosis and hypophosphatemia. Cataract is the only significant manifestation in carriers and is detected by slit-lamp examination.
Disease Ontology Description A X-linked recessive disease that has_material_basis_in mutation in the OCRL gene on chromosome Xq26 and that is characterized by hydrophthalmia, cataract, mental retardation, vitamin D-resistant rickets, amino aciduria, and reduced ammonia production by the kidney.
Mondo Term and Equivalent IDs
MONDO:0010645:  oculocerebrorenal syndrome
GARD:0003295: 
MESH:D009800: 
NCIT:C84940: 
Orphanet:534: 
SCTID:79385002: 
UMLS:C0028860: