Lowe oculocerebrorenal syndrome

Common Name(s)

Lowe oculocerebrorenal syndrome, Lowe Syndrome

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lowe oculocerebrorenal syndrome" for support, advocacy or research.

Lowe Syndrome Association

Our mission is to provide information on Lowe syndrome, foster communication among families, promote a better understanding of Lowe syndrome, and to encourage and support medical research.

Last Updated: 3 Jan 2013

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Lowe oculocerebrorenal syndrome" for support, advocacy or research.

Lowe Syndrome Association

Our mission is to provide information on Lowe syndrome, foster communication among families, promote a better understanding of Lowe syndrome, and to encourage and support medical research.

http://www.lowesyndrome.org

Last Updated: 3 Jan 2013

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Lowe oculocerebrorenal syndrome" returned 12 free, full-text research articles on human participants. First 3 results:

[Investigation and OCRL mutation analysis of a family with oculocerebrorenal syndrome of Lowe].
 

Author(s): Rui-Ming Shi, Xu-Hua Bian, Li-Min Li, Xiao-Hong Liu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2014 Apr;16(4):366-9.

 

Oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked recessive disorder. This study investigated the history of a Chinese family with OCRL and used direct DNA sequencing to screen all exons of OCRL gene for mutations. A missense mutation (1736 A→G) in exon 15 was revealed, which ...

Last Updated: 22 Apr 2014

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Selective proximal renal tubular involvement and dyslipidemia in two cousins with oculocerebrorenal syndrome of Lowe.
 

Author(s): Rezan Topaloğlu, Michael Ludwig, Aslı Çelebi Tayfur

Journal: Turk. J. Pediatr.. ;55(3):331-4.

 

Oculocerebrorenal syndrome of Lowe (OCRL) is a rare, X-linked disorder characterized by congenital cataracts, neonatal or infantile hypotonia, seizures, cognitive impairment, and renal tubular dysfunction. In this article, we report two maternal cousins with OCRL with a hemizygous ...

Last Updated: 12 Nov 2013

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Multiple subcutaneous folds in oculocerebrorenal syndrome of Lowe.
 

Author(s): J Wanigasinghe, S Mettananda, K S De Silva, S Gunethilake

Journal: Ceylon Med J. 2013 Mar;58(1):37-8.

 

Last Updated: 3 Apr 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Lowe oculocerebrorenal syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Clinical and Molecular Investigations Into Ciliopathies
 

Status: Recruiting

Condition Summary: Autosomal Recessive Polycystic Kidney Disease; Congenital Hepatic Fibrosis; Caroli's Disease; Polycystic Kidney Disease; Joubert Syndrome; Cerebro-Oculo-Renal Syndromes; COACH Syndrome; Senior-Loken Syndrome; Dekaban-Arima Syndrome; Cogan Oculomotor Apraxia; Nephronophthisis; Bardet-Biedl Syndrome; Alstrom Syndrome; Oral-Facial-Digital Syndrome

 

Last Updated: 11 Nov 2014

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Dent Disease Mutation Genotyping
 

Status: Recruiting

Condition Summary: Dent Disease

 

Last Updated: 22 May 2014

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