Arts syndrome - Rare Infectious Disease News

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Disease Profile

Arts syndrome

<1 >

US Estimated

Europe Estimated

Age of onset

Infancy

ICD-10

E79.8

Inheritance

Arts syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only 1 X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell sometimes causes the disorder. Females with one copy of the mutated gene are typically much less severely affected.by Arts syndrome than males. In many cases, they do not experience any symptoms.^[1]

In the small number of Arts syndrome cases that have been identified, affected individuals have inherited the mutation from a mother who carries an altered copy of the PRPS1 gene.^[1]

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.

X-linked
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 ;

Summary

Arts syndrome is characterized by sensorineural hearing loss and serious neurological and immune system problems in males. Females can also be affected by this condition, but they typically have much milder symptoms. Arts syndrome is caused by mutations in the PRPS1 gene which is located on the X chromosome. It is inherited in an X-linked recessive manner.^[1]

Symptoms

Boys with Arts syndrome have sensorineural hearing loss, which is a complete or almost complete loss of hearing caused by abnormalities in the inner ear. Other features include weak muscle tone (hypotonia), impaired muscle coordination (ataxia), developmental delay, and intellectual disability. In early childhood, affected boys develop vision loss caused by degeneration of the nerves that carry information from the eyes to the brain (optic atrophy). They also experience loss of sensation and weakness in the limbs (peripheral neuropathy).^[1]

Boys with Arts syndrome also have problems with their immune system that lead to recurrent infections, especially involving the respiratory system. Because of these infections and their complications, affected boys often do not survive past early childhood.^[1]

Females can also be affected by Arts syndrome, but they typically have much milder symptoms. In some cases, hearing loss that begins in adulthood may be the only symptom.^[1]

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 erythrocyte enzyme level		0030272
Abnormality of somatosensory evoked potentials		0007377
Blindness		0000618
Congenital sensorineural hearing impairment		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
EEG with focal epileptiform discharges		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
Nystagmus	Involuntary, rapid, rhythmic eye movements	0000639
Peripheral neuropathy		0009830
Profound sensorineural hearing impairment		0011476
Respiratory failure requiring assisted ventilation		0004887
Spinal cord posterior columns myelin loss		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
Dysphagia	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
Immunodeficiency	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
Seizure		0001250
Visual loss	Loss of vision Vision loss [ more ]	0000572
X-linked recessive inheritance		0001419

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Cause

Arts syndrome is caused by mutations in the PRPS1 gene. This gene provides instructions for making an enzyme called phosphoribosyl pyrophosphate synthetase 1, or PRPP synthetase 1. This enzyme is involved in producing purines and pyrimidines, the building blocks of DNA, RNA, and molecules such as ATP and GTP that serve as energy sources in the cell.^[1]

The PRPS1 mutations that cause Arts syndrome replace one protein building block (amino acid) with another amino acid in the PRPP synthetase 1 enzyme. The resulting enzyme is likely unstable, compromising its ability to perform its normal function. The disruption of purine and pyrimidine production may impair energy storage and transport in cells. Impairment of these processes may have a particularly severe effect on tissues that require a large amount of energy, such as the nervous system and the immune system, resulting in the neurological problems and immune dysfunction characteristic of Arts syndrome.^[1]

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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Infancy

E79.8

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.

X-linked 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)

Categories

Summary

Symptoms

Cause

Diagnosis

Testing Resources

Learn more

Where to Start

In-Depth Information

References

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.

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.