Learn About Ochoa Syndrome

What is the definition of Ochoa Syndrome?

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

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?

Chattanooga Hamilton County Hospital Authority

979 E 3rd St, C925, 
Chattanooga, TN 
 (6.0 mi)
Experience:
16+ years
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Henry Okafor is an Urologist in Chattanooga, Tennessee. Dr. Okafor has been practicing medicine for over 16 years and is rated as an Experienced provider by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Urinary Tract Infection (UTI), Urinary Tract Infection in Children, Stress Urinary Incontinence, Ureteroscopy, and Sacral Nerve Stimulation. Dr. Okafor is currently accepting new patients.

Urology | General Surgery
Urology | General Surgery

Memorial Health Partners Foundation, Inc

725 Glenwood Dr, 
Chattanooga, TN 
 (7.4 mi)
Languages Spoken:
English
Accepting New Patients

Jeffrey Mullins is an Urologist and a General Surgeon in Chattanooga, Tennessee. Dr. Mullins and is rated as an Experienced provider by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Prostate Cancer, UPJ Obstruction, Familial Prostate Cancer, Nephrectomy, and Reconstructive Urology Surgery. Dr. Mullins is currently accepting new patients.

 
 
 
 
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Wellstar Medical Group, LLC

Marietta, GA 
 (94.4 mi)
Languages Spoken:
English, Korean
Accepting New Patients
Offers Telehealth

Thomas Chun is an Urologist in Marietta, Georgia. Dr. Chun and is rated as an Experienced provider by MediFind in the treatment of Ochoa Syndrome. His top areas of expertise are Familial Prostate Cancer, Prostate Cancer, Urinary Incontinence, Ureteroscopy, and Reconstructive Urology Surgery. Dr. Chun is currently accepting new patients.

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Who are the sources who wrote this article ?

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