Arts Syndrome (ARTS) malady
Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Metabolic diseases, Fetal diseases, Eye diseases categories
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8Disease Ontology, 21Genetics Home Reference, 42NIH Rare Diseases, 3CDC, 46OMIM, 19GeneReviews, 32MalaCards
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CDC:3 Although various definitions have been used for ART, the definition used by CDC is based on the 1992 Fertility Clinic Success Rate and Certification Act that requires CDC to publish the annual ART Success Rates Report. According to this definition, ART includes all fertility treatments in which both eggs and sperm are handled. In general, ART procedures involve surgically removing eggs from a womanâ€™s ovaries, combining them with sperm in the laboratory, and returning them to the womanâ€™s body or donating them to another woman. They do NOT include treatments in which only sperm are handled (i.e., intrauterineâ€”or artificialâ€”insemination) or procedures in which a woman takes medicine only to stimulate egg production without the intention of having eggs retrieved.
MalaCards based summary: Arts Syndrome, also known as lethal ataxia with deafness and optic atrophy, is related to charcot-marie-tooth disease and tooth disease, and has symptoms including optic nerve anomaly/optic atrophy/anomaly of the papilla, visual loss/blindness/amblyopia and sensorineural deafness/hearing loss. An important gene associated with Arts Syndrome is PRPS1 (phosphoribosyl pyrophosphate synthetase 1). Affiliated tissues include ovary and lung.
Disease Ontology:8 An x-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has material basis in mutations of the prps1 gene.
Genetics Home Reference:21 Arts syndrome is a disorder that causes serious neurological problems in males. Females can also be affected by this condition, but they typically have much milder symptoms.
NIH Rare Diseases:42 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. last updated: 4/8/2014
Description from OMIM:46 301835
GeneReviews summary for arts
Arts Syndrome, Aliases & Descriptions:
Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases, Metabolic diseases, Fetal diseases
Anatomical: Neuronal diseases, Ear diseases, Eye diseases
Rare neurological diseases
Rare otorhinolaryngological diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis
Characteristics (Orphanet epidemiological data):48
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5
Diseases related to Arts Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:
Symptoms by clinical synopsis from OMIM:301835
Clinical features from OMIM:301835
Symptoms:48 (show all 15)
HPO human phenotypes related to Arts Syndrome:(show all 36)
MalaCards organs/tissues related to Arts Syndrome:32
Articles related to Arts Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Arts Syndrome:64
Clinvar genetic disease variations for Arts Syndrome:6
Search GEO for disease gene expression data for Arts Syndrome.
26ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
58SNOMED-CT via Orphanet
63UMLS via Orphanet