Ochoa syndrome is a disorder characterized by urinary problems and unusual facial expressions.
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.
Ochoa syndrome is a rare disorder. About 150 cases have been reported in the medical literature.
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.
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.
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.
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.
Published Date: March 01, 2012Published By: National Institutes of Health
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