Rare Endocrinology News

Disease Profile

Ochoa syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Childhood

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ICD-10

N31.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Hydronephrosis with peculiar facial expression; Urofacial syndrome; Inverted smile and occult neuropathic bladder;

Categories

Congenital and Genetic Diseases; Kidney and Urinary Diseases

Summary

Ochoa syndrome is a very rare condition that causes unusual facial expressions and problems with urination.[1] People with this condition have a characteristic frown-like facial expression when they try to smile or laugh, often described as "inversion" of facial expression. Urinary tract problems may include the inability to control urination (incontinence), inability to completely empty the bladder, and the buildup of urine in the kidneys (hydronephrosis). These problems often start in early childhood or adolescence and may lead to eventual kidney failure. Other signs and symptoms may include constipation, loss of bowel control and/or muscle spasms of the anus.[1][2] Ochoa syndrome can be caused by a non-working HPSE2 or LRIG2 gene and is inherited in an autosomal recessive manner.[3][4] It can be diagnosed based on the symptoms. Treatment may involve surgery, antibiotics and medications to decrease bladder hyperactivity.[2]

Symptoms

The following list includes the most common signs and symptoms in people with Ochoa syndrome. These features may be different from person to person. Some people may have more symptoms than others and symptoms can range from mild to severe. This list does not include every symptom or feature that has been described in this condition.

Signs and symptoms may include:

  • Bladder that does not work correctly
  • Abnormal facial expression
  • Constipation
  • Incomplete closure of the eyes at night

Facial features may be present in infancy. The urinary tract symptoms may start in childhood or early adolescence. These may include incomplete emptying of the bladder, frequent bladder infections, and the inability to control the bladder. Urine can back up into the kidneys. In some people, these symptoms lead to eventual kidney failure.[2][4][5]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Recurrent urinary tract infections
Frequent urinary tract infections
Repeated bladder infections
Repeated urinary tract infections
Urinary tract infections
Urinary tract infections, recurrent

[ more ]

0000010
30%-79% of people have these symptoms
Constipation
0002019
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Hydronephrosis
0000126
Urethral obstruction
0000796
Urinary incontinence
Loss of bladder control
0000020
Vesicoureteral reflux
0000076
5%-29% of people have these symptoms
Bowel incontinence
Loss of bowel control
0002607
Hypertension
0000822
Polydipsia
Extreme thirst
0001959
Renal insufficiency
Renal failure
Renal failure in adulthood

[ more ]

0000083
Percent of people who have these symptoms is not available through HPO
Abnormal facial expression
0005346
Abnormal facial shape
Unusual facial appearance
0001999
Autosomal recessive inheritance
0000007
Enuresis
0000805
Hydroureter
0000072
Urethral valve
0010481

Cause

Ochoa syndrome may be caused by a HPSE2 or a LRIG2 gene that is not working correctly. Genetic changes known as DNA variants can impact how genes work. Pathogenic variants are responsible for making genes work incorrectly. Some people with Ochoa syndrome have not been found to have pathogenic variants in either gene. In these individuals, the cause of the disorder is unknown.[3][4]

Diagnosis

Ochoa syndrome is diagnosed based on a medical exam, the symptoms, and imaging studies of the bladder and kidney. Genetic testing can help, but may not be necessary.[1][2]

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Treatment

    Treatment for Ochoa syndrome is based on managing the symptoms. Medications can help with bladder control and antibiotics can help with the frequent infections. In some cases, surgery may be needed to correct urinary tract obstruction and to reconstruct certain portions of the urinary tract. The use of intermittent urinary catheters may also be needed.[1][2]

    Specialists who may be involved in the care of someone with Ochoa syndrome include:

    • Urologist
    • Nephrologist
    • Ophthalmologist
    • Surgeon
    • Dietitian

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Organizations Providing General Support

        Learn more

        These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

        Where to Start

        • Genetics Home Reference (GHR) contains information on Ochoa syndrome. This website is maintained by the National Library of Medicine.
        • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

          In-Depth Information

          • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
          • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
          • PubMed is a searchable database of medical literature and lists journal articles that discuss Ochoa syndrome. Click on the link to view a sample search on this topic.

            References

            1. Newman WG, Woolf AS. Urofacial syndrome. GeneReviews. Updated 2018; https://www.ncbi.nlm.nih.gov/books/NBK154138/.
            2. Tu Y, Yang P, Yang J, Xu Y Xiong F, Yu Q, Gu W, Pond D, Mendelsohn N, Lachmeijer GA, Zhang S, Wang CY. Clinical and genetic characteristics for the Urofacial Syndrome (UFS).. Int J Clin Exp Pathol.. Apr 15, 2014; 7(5):1842-1848. https://www.ncbi.nlm.nih.gov/pubmed/24966895.
            3. Daly S, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, et al. Mutations in HPSE2 cause urofacial syndrome [published correction appears in Am J Hum Genet. 2010 Aug 13;87(2):309]. Am J Hum Genet. 2010; 86(6):963-969. https://pubmed.ncbi.nlm.nih.gov/20560210.
            4. Stuart HM, Roberts NA, Burgu B, Daly SB, Urquhart JE et al. LRIG2 mutations cause urofacial syndrome. Am J Hum Genet. 2013; 92(2):259-264. https://pubmed.ncbi.nlm.nih.gov/23313374.
            5. Woolf AS, Stuart HM, Roberts NA, McKenzie EA, Hilton EN, Newman WG. Urofacial syndrome: a genetic and congenital disease of aberrant urinary bladder innervation. Pediatr Nephrol. 2014; 29(4):513-518. https://pubmed.ncbi.nlm.nih.gov/23832138.
            6. Roberts NA, Hilton EN, Lopes FM, Singh S, Randles MJ et al. Lrig2 and Hpse2, mutated in urofacial syndrome, pattern nerves in the urinary bladder. Kidney Int. 2019; 95(5):1138-1152. https://pubmed.ncbi.nlm.nih.gov/30885509.

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