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Disease Profile
Usher syndrome
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.
1-9 / 100 000
Age of onset
Childhood
ICD-10
H35.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Deafness-retinitis pigmentosa syndrome; Dystrophia retinae pigmentosa-dysostosis syndrome; Graefe-Usher syndrome;
Categories
Eye diseases
Summary
Usher
Symptoms
Usher syndrome type I characterized by:
- Severe
hearing loss or deafness at birth or developing within the first year of life - Progressive visions loss, starting during infancy, caused by retinitis pigmentosa
- Balance and equilibrium issues due to problems within the vestibular system (the sensory apparatus of the inner ear that helps the body maintain its postural equilibrium)
- Motor delay, manifested by children sitting independently and walking later than usual.
Usher syndrome type II characterized by:
- Hearing loss from birth, usually milder than type I and mainly affects high tones. Children with Usher syndrome type II have problems hearing high, soft, speech sounds such as those of the letters "d" and "t." The degree of hearing loss varies within and among families with this condition.
- Progressive vision loss that begins in adolescence or adulthood.
- Absence of any balance or equilibrium problems.
Usher syndrome type III characterized by:
- Progressive hearing loss which begins during the first few decades of life. Therefore, unlike the other forms of Usher syndrome, infants with Usher syndrome type III are usually born with normal hearing. Hearing loss typically begins during the first two decades of life, after the development of speech, and progresses over time. By middle age, most affected individuals are profoundly deaf.
- Progressive vision loss developing in late childhood or adolescence.
- Variable balance issues, due to vestibular system problems.
For additional information about subypes please visit the OMIM
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 | ||
Abnormal electroretinogram | 0000512 | |
Abnormality of retinal pigmentation | 0007703 | |
Blindness | 0000618 | |
Nyctalopia |
Night blindness
Night-blindness
Poor night vision
[ more ] |
0000662 |
Progressive visual loss |
Progressive loss of vision
Progressive vision loss
Progressive visual impairment
Slowly progressive visual loss
Vision loss, progressive
Visual loss, progressive
[ more ] |
0000529 |
Sensorineural hearing impairment | 0000407 | |
Vestibular areflexia | 0008568 | |
Visual field defect |
Partial loss of field of vision
|
0001123 |
30%-79% of people have these symptoms | ||
0001251 | ||
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
Cognitive impairment |
Abnormality of cognition
Cognitive abnormality
Cognitive defects
Cognitive deficits
Intellectual impairment
Mental impairment
[ more ] |
0100543 |
High hypermetropia |
Severe farsightedness
Severe long-sightedness
[ more ] |
0008499 |
Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
5%-29% of people have these symptoms | ||
Abnormal cardiovascular system physiology | 0011025 | |
Abnormality of dental color |
Abnormality of tooth color
Abnormality of tooth shade
[ more ] |
0011073 |
Abnormality of dental enamel |
Abnormal tooth enamel
Enamel abnormalities
Enamel abnormality
[ more ] |
0000682 |
Anxiety |
Excessive, persistent worry and fear
|
0000739 |
Aplasia/Hypoplasia of the cerebellum |
Absent/small cerebellum
Absent/underdeveloped cerebellum
[ more ] |
0007360 |
Astigmatism |
Abnormal curving of the cornea or lens of the eye
|
0000483 |
Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
Decreased fertility |
Abnormal fertility
|
0000144 |
Depressivity |
Depression
|
0000716 |
EMG abnormality | 0003457 | |
Hallucinations |
Hallucination
Sensory hallucination
[ more ] |
0000738 |
Hyperacusis | 0010780 | |
Hypertrophic |
Enlarged and thickened heart muscle
|
0001639 |
Microdontia |
Decreased width of tooth
|
0000691 |
Myopathy |
Muscle tissue disease
|
0003198 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Psychosis | 0000709 | |
Tinnitus |
Ringing in ears
Ringing in the ears
[ more ] |
0000360 |
Cause
Type I is divided in the following subtypes:
- IB, caused by mutations in the MYO7A gene (the most common one)
- IC, caused by mutations in the USH1C gene
- ID, caused by mutations in the CDH23 gene
- ID-F, caused by mutations in the PCDH15 and CDH23 genes
- IF, caused by mutations in the PCDH15 gene
- IG, caused by mutations in the SANS gene
- IH, caused by mutations in the USH1H gene
- IJ, caused by mutations in the CIB2 gene
- IK, caused by mutations in the USH1K gene
Type II is divided in the following subtypes:
- IIA, caused by mutations in the USH2A gene
- IIC, caused by mutations in the ADGRV1 gene
- IID, caused by mutations in the WHRN gene
- IIC, GPR98/PDZD7, caused by mutations in the ADGRV1 (ADGRV1 is also known as GPR98) and PDZD7 genes
Type III is divided in the following subtypes:
Please see the list of the different types and subtypes of Usher syndrome and their specific gene mutations provided by OMIM.
Many of the genes related to Usher syndrome give instructions to make
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include oculo-acoustic syndromes associated with mitochondrial DNA mutations (MIDD, Kearns-Sayre syndrome), and, more rarely, Refsum disease and moderate forms of Alström syndrome (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Foundation Fighting Blindness
7168 Columbia Gateway Drive, Suite 100
Columbia, MD 21046
Toll-free: 1-800-683-5555
Telephone: +1-410-423-0600
TTY: 1-800-683-5551
E-mail: [email protected]
Website: https://www.fightingblindness.org/ -
Prevent Blindness America
211 West Wacker Drive, Suite 1700
Chicago, IL 60606
Toll-free: 800-331-2020
E-mail: [email protected]
Website: https://www.preventblindness.org/ -
Usher 1F Collaborative
321 Walnut Street, #228
Newtonville, MA 02460-1927
Telephone: 339-221-2743
E-mail: [email protected]
Website: https://usher1f.org/ -
Usher Syndrome Coalition
63 Great Road
Suite 207
Maynard, MA 01754
Toll-free: 1-855-998-7437 Option 0
E-mail: [email protected]
Website: https://www.usher-syndrome.org/
This group also offers videophone (VP) for individuals whose primary language is American Sign Language: +1-631-533-9621
Organizations Providing General Support
-
Retina International
Suite 108, Camden Business Centre
12 Camden Row
Dublin 8
Ireland
Telephone: +353 1 472 0468
E-mail: [email protected]
Website: https://www.retina-international.org/
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
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Usher syndrome. This website is maintained by the National Library of Medicine.
- The National Institute on Deafness and Other Communication Disorders (NIDCD) conducts and supports biomedical and behavioral research and research training in the normal and disordered processes of hearing, balance, smell, taste, voice, speech, and language. Click on the link to view information on this topic.
- 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.
- The 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.
- Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Usher syndrome in a table called Phenotypic Series. Each entry in OMIM includes 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 Usher syndrome. Click on the link to view a sample search on this topic.
References
- Usher syndrome. Genetics Home Reference (GHR). 2016; https://ghr.nlm.nih.gov/condition/usher-syndrome.
- Keats BJB & Lentz J. Usher Syndrome Type II. GeneReviews. 2016; https://www.ncbi.nlm.nih.gov/books/NBK1341/.
- Bonnet C, El-Amraoui A. Usher syndrome (sensorineural deafness and retinitis pigmentosa): pathogenesis, molecular diagnosis and therapeutic approaches. Curr Opin Neurol. February 2012; 25(1):42-49.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IJ; USH1J. OMIM. 2014; https://omim.org/entry/614869.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IIC; USH2C. OMIM. 2016; https://omim.org/entry/605472.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IG; USH1G. OMIM. 2014; https://omim.org/entry/606943.
- Cassandra L. Kniffin. USHER SYNDROME, TYPE IID; USH2D. OMIM. 2014; https://omim.org/entry/611383.
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