Arts Syndrome malady
Genetic diseases, Rare diseases, Neuronal diseases, Ear diseases, Metabolic diseases, Fetal diseases, Eye diseases categories
Aliases & Descriptions for Arts Syndrome:
MalaCards categories: See all MalaCards categories (disease lists)
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 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood,infantile
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
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 sensorineural hearing impairment, visual impairment and optic atrophy. An important gene associated with Arts Syndrome is PRPS1 (phosphoribosyl pyrophosphate synthetase 1). Affiliated tissues include spinal cord 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.
OMIM:46 Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor... (301835) more...
GeneReviews summary for arts
Diseases related to Arts Syndrome via text searches within MalaCards or GeneCards Suite 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:31
Spinal cord, Lung
Articles related to Arts Syndrome:
UniProtKB/Swiss-Prot genetic disease variations for Arts Syndrome:63
Clinvar genetic disease variations for Arts Syndrome:5
Search GEO for disease gene expression data for Arts Syndrome.
26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet