Details of Disease

General Information of Disease (ID: DISSHNG7)

• Disease Name: CAMOS syndrome
• Synonyms: spinocerebellar ataxia autosomal recessive 5; cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities; cerebellar ataxia with mental retardation optic atrophy and skin abnormalities; CAMOS; SCAR5; cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome
• Definition: CAMOS syndrome is characterized by the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive.
• Disease Hierarchy:
  DISIQCS1: Autosomal recessive congenital cerebellar ataxia
  DISSHNG7: CAMOS syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0019374
  UMLS CUI: C4511633
  MedGen ID: 1387501
  Orphanet ID: 83472
  SNOMED CT ID: 726031001

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
WDR73	OT2MKQ5Z	Supportive	Autosomal recessive	[1]

References

• [1] WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease. Hum Mutat. 2015 Nov;36(11):1021-8. doi: 10.1002/humu.22828. Epub 2015 Aug 6.