Rare Pulmonology News

Disease Profile

Ayazi 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.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

Q93.5

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)

Choroideremia deafness obesity; Choroideremia, obesity, and congenital deafness

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Endocrine Diseases;

Summary

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.

Symptoms

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
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

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 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.

    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.