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.

Synonym(s): Lowe syndrome, Lowe-Terrey-MacLachlan syndrome

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

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References in periodicals archive ?

The oculocerebrorenal syndrome of Lowe (Lowe syndrome).

Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL.

Red de interaccion proteina-proteina de fosfatidilinositol 4,5-bifosfato 5-fosfatasa relacionada con el sindrome de Lowe

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

True Life: Why IOm battling for my b rave Oscar; When Lorraine Thomas, 49, from North London, was told there was no cure for her sonOs illness, she decided to devote her life to finding one herself..

To learn more about Lowe Syndrome and to help the mission's end draw nearer, visit www.lowesyndrome.org.

Headwind sucks: Jack Smith and friends skate across America

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.