National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Cataract ataxia deafness


Other Names:
Cataract ataxia deafness syndrome; Polyneuropathy, cataract, deafness syndrome; Begeer syndrome; Cataract ataxia deafness syndrome; Polyneuropathy, cataract, deafness syndrome; Begeer syndrome; Cataract-ataxia-deafness-retardation syndrome See More
Categories:
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1368

Definition
Cataract-ataxia-deafness syndrome is characterised by mild intellectual deficit, congenital cataract, progressive sensorineural deafness and ataxia. It has been described in two sisters. The inheritance is likely to be autosomal recessive.

Visit the Orphanet disease page for more resources.
Last updated: 10/1/2006

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.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Adult onset sensorineural hearing impairment 0008615
Areflexia
Absent tendon reflexes
0001284
Ataxia 0001251
Decreased nerve conduction velocity 0000762
Developmental cataract
Clouding of the lens of the eye at birth
0000519
Hypertonia 0001276
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] 		0001256
Peripheral neuropathy 0009830
30%-79% of people have these symptoms
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Tremor 0001337
Visual impairment
Impaired vision
Loss of eyesight
Poor vision
[ more ] 		0000505
Percent of people who have these symptoms is not available through HPO
Autosomal recessive inheritance 0000007
Distal sensory impairment
Decreased sensation in extremities
0002936
Polyneuropathy
Peripheral nerve disease
0001271
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

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 Cataract ataxia deafness. Click on the link to view a sample search on this topic.

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