Details of Disease

General Information of Disease (ID: DIS0TD3S)

• Disease Name: Autosomal recessive spinocerebellar ataxia 12
• Synonyms: spinocerebellar ataxia, autosomal recessive 12; spinocerebellar ataxia with intellectual disability and epilepsy; spinocerebellar ataxia with mental retardation and epilepsy; autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome due to WWOX deficiency; WWOX autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome; WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome; spinocerebellar ataxia, autosomal recessive type 12; autosomal recessive spinocerebellar ataxia 12; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX; autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in WWOX; SCAR12; autosomal recessive spinocerebellar ataxia type 12
• Definition: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.
• Disease Hierarchy:
  DISQGHO3: Autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome
  DIS0TD3S: Autosomal recessive spinocerebellar ataxia 12
• Disease Identifiers:
  MONDO ID: MONDO_0013687
  UMLS CUI: C3280452
  OMIM ID: 614322
  MedGen ID: 482082
  Orphanet ID: 284282
  SNOMED CT ID: 770898002

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
WWOX	OTBDGSMG	Strong	Autosomal recessive	[1]

References

• [1] The tumour suppressor gene WWOX is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. Brain. 2014 Feb;137(Pt 2):411-9. doi: 10.1093/brain/awt338. Epub 2013 Dec 24.