Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Arts syndrome

Arts syndrome is a lethal x-linked recessive neurological disorder caused by mutations of the PRPS1 gene. It is characterized by ataxia, deafness and optic atrophy.

Systematic

Hereditary neurological disorders
Alzheimer disease
Arts syndrome
PRPS1
Autism
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal recessive spastic paraplegia type 44
Brain malformations with urinary tract defects
Brain small vessel disease with hemorrhage
Brunner syndrome
Charcot-Marie-Tooth disease
Congenital insensitivity to pain with anhidrosis
Hereditary benign chorea
Hereditary distal motor neuron neuropathy type 5A
Hereditary muscle diseases
Hereditary sensory and autonomic neuropathy type 2A
Hereditary sensory neuropathy type 1E
Hypokalemic periodic paralysis 1
Hypomyelinating Leukodystrophy 2
Idiopathic basal ganglia calcification 1
Intellectual disability-severe speech delay-mild dysmorphism syndrome
Migraine
Nemaline myopathy 5
Porencephaly
Rett syndrome
Severe neonatal-onset encephalopathy with microcephaly
Spastic paraplegia 17 with amyotrophy of hands and feet
Susceptibility to glioma
Vascular dementia
X-linked syndromic mental retardation 13

References:

1.

Arts WF et. al. (1993) X-linked ataxia, weakness, deafness, and loss of vision in early childhood with a fatal course.

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2.

de Brouwer AP et. al. (2007) Arts syndrome is caused by loss-of-function mutations in PRPS1.

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3.

de Brouwer AP et. al. (2010) PRPS1 mutations: four distinct syndromes and potential treatment.

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4.

Moran R et. al. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

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5.

Synofzik M et. al. (2014) X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

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6.

Almoguera B et. al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

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7.

Schmidley JW et. al. (1987) Infantile X-linked ataxia and deafness: a new clinicopathologic entity?

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8.

Kremer H et. al. (1996) Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood.

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Update: Sept. 26, 2018