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Disease Profile
Flynn Aird 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 / 1 000 000
Age of onset
Childhood
ICD-10
Q87.8
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)
Cataracts, retinitis pigmentosa, sensorineural hearing loss, ataxia, peripheral neuritis, epilepsy, dementia, skin atrophy, chronic ulceration, dental; Flynn-Aird syndrome
Categories
Congenital and Genetic Diseases; Nervous System Diseases; Skin Diseases
Summary
Orpha Number: 2047
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 | ||
| Dermal atrophy |
Skin degeneration
|
0004334 |
| Myopia |
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] |
0000545 |
| Progressive sensorineural hearing impairment | 0000408 | |
| 30%-79% of people have these symptoms | ||
| Alopecia |
Hair loss
|
0001596 |
| Aphasia |
Difficulty finding words
Losing words
Loss of words
[ more ] |
0002381 |
| 0001251 | ||
| Atherosclerosis |
Narrowing and hardening of arteries
|
0002621 |
| Bone cyst |
Bone cysts
|
0012062 |
| Cachexia |
Wasting syndrome
|
0004326 |
|
Clouding of the lens of the eye
Cloudy lens
[ more ] |
0000518 | |
|
Dementia, progressive
Progressive dementia
[ more ] |
0000726 | |
|
Loss of developmental milestones
Mental deterioration in childhood
[ more ] |
0002376 | |
| 0002353 | ||
| Impaired pain sensation |
Decreased pain sensation
|
0007328 |
| Joint stiffness |
Stiff joint
Stiff joints
[ more ] |
0001387 |
| Kyphosis |
Hunched back
Round back
[ more ] |
0002808 |
| Rod-cone dystrophy | 0000510 | |
| 0002650 | ||
| 0001250 | ||
| Skeletal muscle atrophy |
Muscle degeneration
Muscle wasting
[ more ] |
0003202 |
| Skin ulcer |
Open skin sore
|
0200042 |
| 5%-29% of people have these symptoms | ||
| Abnormality of movement |
Movement disorder
Unusual movement
[ more ] |
0100022 |
| Abnormality of the thyroid gland |
Thyroid abnormality
|
0000820 |
| Carious teeth |
Dental cavities
Tooth cavities
Tooth decay
[ more ] |
0000670 |
| Cerebral calcification |
Abnormal deposits of calcium in the brain
|
0002514 |
| Cerebral cortical atrophy |
Decrease in size of the outer layer of the brain due to loss of brain cells
|
0002120 |
| Primary adrenal insufficiency | 0008207 | |
| Type II |
Noninsulin-dependent diabetes
Type 2 diabetes
Type II diabetes
[ more ] |
0005978 |
| Visual impairment |
Impaired vision
Loss of eyesight
Poor vision
[ more ] |
0000505 |
| Percent of people who have these symptoms is not available through HPO | ||
| Alopecia of scalp |
Pathologic hair loss from scalp
Scalp hair loss
[ more ] |
0002293 |
| 0000006 | ||
| Hyperkeratosis | 0000962 | |
| Increased bone density with cystic changes | 0005700 | |
| Increased CSF |
0002922 | |
| Kyphoscoliosis | 0002751 | |
| 0000939 | ||
| 0009830 | ||
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
-
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/
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 Flynn Aird syndrome. Click on the link to view a sample search on this topic.