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Arts syndrome

Synonyms
ARTS SYNDROME AND PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY; MENTAL RETARDATION, X-LINKED, SYNDROMIC 18; MENTAL RETARDATION, X-LINKED, SYNDROMIC, ARTS TYPE; X-linked fatal ataxia with deafness and loss of vision
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Phosphoribosylpyrophosphate Synthetase Deficiency
Phosphoribosylpyrophosphate synthetase (PRS) deficiency, an X-linked disorder, is a phenotypic continuum comprising three disorders previously thought to be clinically distinct: Arts syndrome, Charcot-Marie-Tooth neuropathy X type 5 (CMTX5), and X-linked nonsyndromic sensorineural hearing loss (DFNX1). In affected males, the PRS deficiency phenotypic spectrum ranges from severe congenital profound sensorineural hearing loss, intellectual disability, delayed motor development, and progressive ophthalmologic involvement (retinal dystrophy and optic atrophy) to normal cognitive abilities and relatively later-onset, somewhat milder manifestations, such as mild sensorineural hearing loss, peripheral neuropathy, and gait ataxia. Heterozygous females can show isolated and/or milder manifestations in the PRS deficiency spectrum. To date, 40 families with PRS deficiency have been reported.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Arjan PM de Brouwer
John Christodoulou
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Available tests

52 tests are in the database for this condition.

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Clinical tests (52 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, PRPS1
    Summary: phosphoribosyl pyrophosphate synthetase 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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