Oculocerebrorenal syndrome

From Health Encyclopedia

Contents 1 Used for 2 Broader Terms 3 Related Terms 4 Scope Note 5 Facts (generated by robot; please edit if you find it inaccurate)

Used for

cerebrooculorenal syndrome, Lowe syndrome, oculocerebrorenal syndrome of Lowe

Broader Terms

inborn renal tubular transport disorder, mental retardation, syndrome

Related Terms

sex linked trait

Scope Note

sex-linked recessive disorder of amino acid transport which affects the eye, nervous system, and kidney; manifestations include cataract, glaucoma, aminoaciduria, hypophosphatemic rickets, developmental delay, myopathy, peripheral neuropathy, and hypotonia; associated with deficient activity of the enzyme phosphatidylinositol 4,5-bisphosphate-5-phosphatase.

Facts (generated by robot; please edit if you find it inaccurate)

• "Lowe oculocerebrorenal syndrome is an X-linked disorder caused by mutations in the OCRL1 gene, which encodes a 105-kDa Golgi protein with phosphatidylinositol (4,5) bisphosphate 5-phosphatase activity.
• Oculocerebrorenal syndrome is an X-linked recessive disorder characterized by congenital ocular abnormalities, mental retardation, renal disease, and metabolic bone disease.
• Background Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal renal tubules.
• Lowe Syndrome Lowe syndrome or oculocerebrorenal syndrome is characterized by cataracts, megalocornea, buphthalmos, glaucoma, prominent forehead, protruding tongue, thin sparse hair, proteinuria, metabolic acidosis, amino aciduria, and defective acidification of urine.
•  : Oculocerebrorenal syndrome is an X-linked recessive hereditary oculocerebrorenal disorder characterized by congenital cataract, mental retardation, and Fanconi syndrome of the proximal renal tubules.

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