Lowe syndrome


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oc·u·lo·cer·e·bro·re·nal syn·drome

[MIM*309000]
a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets; X-linked recessive inheritance, caused by mutation in the oculocerebrorenal gene (OCRL) on Xq.

Lowe syndrome

Oculocerebrorenal syndrome, see there.

Lowe syndrome

(lō)
[Charles U. Lowe, U.S. pediatrician, b. 1921]
Oculocerebrorenal dystrophy characterized by hypotonia, loss of reflexes, mental deterioration, glaucoma, cataracts, and renal tubular dysfunction. The syndrome is transmitted as a sex-linked recessive.

Lowe,

Charles U., U.S. pediatrician, 1921–.
Lowe syndrome - a congenital syndrome with hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced ammonia production by the kidney, and vitamin D-resistant rickets. Synonym(s): Lowe-Terrey-MacLachlan syndrome; oculocerebrorenal syndrome
Lowe-Terrey-MacLachlan syndrome - Synonym(s): Lowe syndrome
References in periodicals archive ?
The oculocerebrorenal syndrome of Lowe (Lowe syndrome).
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.
In 2002, our first programme, examining kidney problems in Lowe Syndrome, was set up at Great Ormond Street Hospital.
The Lowe Syndrome Trust has raised pounds 300,000 in just five years.
Oscar and all the other boys with Lowe Syndrome keep me focused.
To make a donation, contact the Lowe Syndrome Trust 020 8458 6791 or www.lowetrust.com
To learn more about Lowe Syndrome and to help the mission's end draw nearer, visit www.lowesyndrome.org.
There are only 50 families in the UK known to have children who suffer with Lowe Syndrome.
Every single day of her life she puts all her efforts into finding a cure for Lowe Syndrome.
TO find out more about Lowe Syndrome, go to www.lowetrust.com