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  3. Ayazi syndrome
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Ayazi syndrome


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Other Names:
Choroideremia deafness obesity; Choroideremia, obesity, and congenital deafness
Categories:
Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases; Eye diseases See More

Summary Summary


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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 1435

Definition
Choroideremia-deafness-obesity syndrome is an X-linked retinal dystrophy characterized by choroideremia, causing in affected males progressive nyctalopia and eventual central blindness. Obesity, moderate intellectual disability and congenital mixed (sensorineural and conductive) deafness are also observed. Female carriers show typical retinal changes indicative of the choroideremia carrier state.

Visit the Orphanet disease page for more resources.
Last updated: 12/1/2014

Symptoms Symptoms


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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.

Showing of 39 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Chorioretinal degeneration 0200065
Choroideremia 0001139
30%-79% of people have these symptoms
Abnormal cochlea morphology 0000375
Abnormality of the Achilles tendon 0005109
Ankle clonus
Abnormal rhythmic movements of ankle
0011448
Bilateral sensorineural hearing impairment 0008619
Conductive hearing impairment
Conductive deafness
Conductive hearing loss
[ more ]
0000405
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development
[ more ]
0002750
Dilatated internal auditory canal 0004458
Gait ataxia
Inability to coordinate movements when walking
0002066
Global developmental delay 0001263
Growth hormone deficiency 0000824
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ]
0001256
Obesity
Having too much body fat
0001513
Optic atrophy 0000648
Peripheral visual field loss
Loss of peripheral vision
0007994
Pituitary hypothyroidism
Low thyroid gland function due to abnormal pituitary gland
0008245
Postnatal growth retardation
Growth delay as children
0008897
Progressive night blindness 0007675
Reticular pigmentary degeneration 0007937
Stapes ankylosis 0000381
Visual acuity test abnormality 0030532
5%-29% of people have these symptoms
Dysdiadochokinesis
Difficulty performing quick and alternating movements
0002075
Hypertension 0000822
Nystagmus
Involuntary, rapid, rhythmic eye movements
0000639
Renal artery stenosis
Narrowing of kidney artery
0001920
Seizure 0001250
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ]
0000486
Upper limb muscle weakness
Decreased arm strength
Weak arm
[ more ]
0003484
Percent of people who have these symptoms is not available through HPO
Chorioretinal atrophy 0000533
Constriction of peripheral visual field
Limited peripheral vision
0001133
Contiguous gene syndrome 0001466
Hearing impairment
Deafness
Hearing defect
[ more ]
0000365
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ]
0001249
Nyctalopia
Night blindness
Night-blindness
Poor night vision
[ more ]
0000662
Progressive sensorineural hearing impairment 0000408
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
X-linked inheritance 0001417
X-linked recessive inheritance 0001419
Showing of 39 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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

  • To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Organizations Organizations


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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 Providing General Support

  • Retina International
    Suite 108, Camden Business Centre
    12 Camden Row
    Dublin 8
    Ireland
    Telephone: +353 1 472 0468
    E-mail: avril.daly@retina-International.org
    Website: https://www.retina-international.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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 Ayazi syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
You can help advance
rare disease research!
You can help advance rare disease research!
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