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 ?
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.
The patients with Lowe syndrome and Dent disease showed very high concentrations, and they were 200- and 70-fold higher, respectively, than in the controls (Fig.
However, we believe the winning investigators are conducting novel research in multiple sclerosis, cancer and Lowe Syndrome that would not be possible using other technologies.
This milestone project aims to produce the first complete description of the spreading and migration abnormalities described in Lowe Syndrome as well as test several hypotheses about the molecular causes of the disease.
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.