Learn About Ochoa Syndrome

What is the definition of Ochoa Syndrome?

Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.

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What are the causes of Ochoa Syndrome?

Ochoa syndrome can be caused by mutations in the HPSE2 gene. This gene provides instructions for making a protein called heparanase 2. The function of this protein is not well understood.

How prevalent is Ochoa Syndrome?

Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature.

Is Ochoa Syndrome an inherited disorder?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Who are the top Ochoa Syndrome Local Doctors?
Elite
Highly rated in
11
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University Of Manchester

Royal Manchester Children's Hospital, Manchester Academic Health Science Centre 
Manchester, ENG, GB 

Adrian Woolf is in Manchester, United Kingdom. Woolf is rated as an Elite expert by MediFind in the treatment of Ochoa Syndrome. He is also highly rated in 11 other conditions, according to our data. His top areas of expertise are Ochoa Syndrome, Prune Belly Syndrome, Bilateral Renal Agenesis Dominant Type, and Reflux Nephropathy.

Elite
Highly rated in
1
conditions

General Medical Council

GB 

Neil Roberts is in United Kingdom. Roberts is rated as an Elite expert by MediFind in the treatment of Ochoa Syndrome. He is also highly rated in 1 other condition, according to our data. His top areas of expertise are Ochoa Syndrome, Neurogenic Bladder, Prune Belly Syndrome, and Autonomic Neuropathy.

 
 
 
 
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Elite
Highly rated in
2
conditions

University Of Manchester

Manchester, ENG, GB 

Helen Stuart is in Manchester, United Kingdom. Stuart is rated as an Elite expert by MediFind in the treatment of Ochoa Syndrome. She is also highly rated in 2 other conditions, according to our data. Her top areas of expertise are Ochoa Syndrome, Prune Belly Syndrome, Neurogenic Bladder, and Bladder Outlet Obstruction.

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Who are the sources who wrote this article ?

Published Date: March 01, 2012Published By: National Institutes of Health

What are the Latest Advances for Ochoa Syndrome?

There is no recent research available for this condition. Please check back because thousands of new papers are published every week and we strive to find and display the most recent relevant research as soon as it is available.