Lowe syndrome
oculocerebrorenal syndrome

For parents, friends, professionals and others who are interested in Lowe syndrome.

Glaucoma is present in about 50% of the patients with Lowe syndrome, though usually not at birth.

Lowe syndrome is inherited as an X-linked genetic condition.

This gene had been identified earlier as mutated in patients with 'Lowe Syndrome'.

Boys with Lowe syndrome are born with cataract in both eyes (the hallmark of the disease).

Two forms, Dent's disease and Lowe syndrome, are X linked.

People with lowe syndrome are born with cataracts, that is the lenses of their eyes are not totally clear.

Oculocerebrorenal syndrome (also called Lowe Syndrome) is a rare genetic disorder in humans.

This year's surprise celeb is 80's pop treasure Tony Hadley - making an appearance on behalf of the Lowe Syndrome Trust.

These include diseases from metabolic and genetic disorders such as mannosidosis, myotonic dystrophy, Lowe syndrome, and Coffin-Lowry syndrome.

Joseph and consultant Linden Cullen travel there to find her, and discover that Faye has a young son, Archie, who has Lowe syndrome.

Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense mutations in OCRL.

Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, aminoaciduria, phosphaturia, tubular proteinuria, and impaired urine-concentrating ability).

This year the charities benefitting include Cure Parkinson's Trust, Fight for Peace, Maggie's Cancer Centres and Lowe Syndrome Trust.

Other recognised causes are Wilson's disease (a genetically inherited condition of copper metabolism), Lowe syndrome, tyrosinemia (type I), galactosemia, glycogen storage diseases, and hereditary fructose intolerance.

Differential diagnosis includes Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN), Marinesco-Sjögren like syndrome with chylomicronemia, carbohydrate deficient glycoprotein syndromes, Lowe syndrome, and mitochondrial disease.

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia , mental retardation, proximal tubular acidosis, aminoaciduria , phosphaturia, and low-molecular-weight proteinuria.

Because of the three major organ systems involved (eyes, brain, and kidney), it is also known as oculocerebrorenal syndrome.

It is also known as Oculocerebrorenal syndrome.

Mutation in this gene are associated with oculocerebrorenal syndrome and also with Dent's disease.

Oculocerebrorenal syndrome (also called Lowe Syndrome) is a rare genetic disorder in humans.

Both Lowe syndrome (oculocerebrorenal syndrome) and Dent disease can be caused by truncating or missense mutations in OCRL.

Inositol polyphosphate 5-phosphatase OCRL-1 (INPP5F), also known as Lowe oculocerebrorenal syndrome protein, is an enzyme encoded by the OCRL gene located on the X chromosome in humans.

Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia and areflexia , mental retardation, proximal tubular acidosis, aminoaciduria , phosphaturia, and low-molecular-weight proteinuria.

The recent disclosure that Lowe's oculocerebrorenal syndrome is caused by a defect in a gene that encodes one of the enzymes that metabolizes InsP 3 (ref. 7) will ensure a continuing interest in this messenger pathway well into the next decade.