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Disease Profile
Arts 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.
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Age of onset
Infancy
ICD-10
E79.8
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)
ARTS; X-linked fatal ataxia with deafness and loss of vision; Lethal ataxia-deafness-optic atrophy ;
Categories
Congenital and Genetic Diseases; Digestive Diseases; Ear, Nose, and Throat Diseases;
Summary
Arts
Symptoms
Boys with Arts syndrome also have problems with their
Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases,
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 |
0030272 | |
Abnormality of somatosensory evoked potentials | 0007377 | |
Blindness | 0000618 | |
0008527 | ||
Decreased motor nerve conduction velocity | 0003431 | |
EMG: chronic denervation signs | 0003444 | |
Mutism |
Inability to speak
Muteness
[ more ] |
0002300 |
Optic atrophy | 0000648 | |
Recurrent upper respiratory tract infections |
Recurrent colds
|
0002788 |
Severe demyelination of the white matter | 0007258 | |
Severe infection | 0032169 | |
30%-79% of people have these symptoms | ||
Appendicular hypotonia | 0012389 | |
Areflexia |
Absent tendon reflexes
|
0001284 |
Ataxia | 0001251 | |
0011185 | ||
Hypouricemia |
Low blood uric acid levels
|
0003537 |
Intellectual disability, mild |
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation
[ more ] |
0001256 |
Intellectual disability, moderate |
IQ between 34 and 49
|
0002342 |
Motor delay | 0001270 | |
Muscular hypotonia of the trunk |
Low muscle tone in trunk
|
0008936 |
Neck muscle weakness |
Floppy neck
|
0000467 |
Involuntary, rapid, rhythmic eye movements
|
0000639 | |
Peripheral neuropathy | 0009830 | |
Profound sensorineural hearing impairment | 0011476 | |
Respiratory failure requiring assisted ventilation | 0004887 | |
Spinal cord posterior columns |
0008311 | |
Tetraplegia |
Paralysis of all four limbs
|
0002445 |
5%-29% of people have these symptoms | ||
Hyperreflexia |
Increased reflexes
|
0001347 |
Percent of people who have these symptoms is not available through HPO | ||
Absent speech |
Absent speech development
Lack of language development
Lack of speech
No speech development
No speech or language development
Nonverbal
[ more ] |
0001344 |
Death in infancy |
Infantile death
Lethal in infancy
[ more ] |
0001522 |
Drooling |
Dribbling
|
0002307 |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Global developmental delay | 0001263 | |
Growth delay |
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] |
0001510 |
Hearing impairment |
Deafness
Hearing defect
[ more ] |
0000365 |
Decreased immune function
|
0002721 | |
Intellectual disability |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 |
Neonatal hypotonia |
Low muscle tone, in neonatal onset
|
0001319 |
Progressive muscle weakness | 0003323 | |
Recurrent infections |
Frequent infections
Frequent, severe infections
Increased frequency of infection
infections, recurrent
Predisposition to infections
Susceptibility to infection
[ more ] |
0002719 |
0001250 | ||
Visual loss |
Loss of vision
Vision loss
[ more ] |
0000572 |
0001419 |
Cause
The PRPS1 mutations that cause Arts syndrome replace one
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
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
- Genetics Home Reference (GHR) contains information on Arts syndrome. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- 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 Arts syndrome. Click on the link to view a sample search on this topic.
References
- Arts syndrome. Genetics Home Reference (GHR). August 2009; https://ghr.nlm.nih.gov/condition/arts-syndrome. Accessed 4/8/2014.
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