Details of Disease

General Information of Disease (ID: DIS8LNCN)

• Disease Name: Arts syndrome
• Synonyms: lethal ataxia-deafness-optic atrophy; X-linked fatal ataxia with deafness and loss of vision; mental retardation, X-linked, syndromic, Arts type; intellectual disability, X-linked, syndromic 18; mental retardation, X-linked, syndromic 18; intellectual disability, X-linked, syndromic, Arts type; ataxia, fatal X-linked, with deafness and loss of vision; syndromic X-linked mental retardation Arts type; syndromic X-linked intellectual disability Arts type; Arts syndrome; MRXSARTS; syndromic X-linked intellectual disability 18; lethal ataxia with deafness and optic atrophy; fatal X-linked ataxia with deafness and loss of vision; MRXS18; syndromic X-linked mental retardation 18; Arts syndrome, X-linked recessive; Arts
• Definition: Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISYKSRF: Genetic disease
  DIS8LNCN: Arts syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0010533
  MESH ID: C535388
  UMLS CUI: C0796028
  OMIM ID: 301835
  MedGen ID: 163205
  Orphanet ID: 1187
  SNOMED CT ID: 702441001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
PRPS1	OTN3A6CN	Definitive	X-linked	[1]

References

• [1] Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nat Commun. 2019 May 30;10(1):2373. doi: 10.1038/s41467-019-10016-3.