Details of Disease

General Information of Disease (ID: DISHUX1K)

• Disease Name: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
• Synonyms: autosomal recessive spinocerebellar ataxia 21; spinocerebellar ataxia, autosomal recessive 21, with hepatopathy; spinocerebellar ataxia, autosomal recessive 21; SCAR21; acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; autosomal recessive spinocerebellar ataxia 21 with hepatopathy; spinocerebellar ataxia, autosomal recessive type 21; autosomal recessive spinocerebellar ataxia type 21
• Definition: An autosomal recessive cerebellar ataxia that has material basis in homozygous or compound heterozygous mutation in the SCYL1 gene on chromosome 11q13.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'endocrine system disorder' (MONDO:0005151) ontology branch (https://orcid.org/0000-0001-9310-0163)
• Disease Hierarchy:
  DIS6SVEE: Syndromic disease
  DISBV50J: Acute disease
  DISGMOMI: Autosomal recessive syndromic cerebellar ataxia
  DISHUX1K: Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
• Disease Identifiers:
  MONDO ID: MONDO_0014744
  UMLS CUI: C5569084
  OMIM ID: 616719
  MedGen ID: 1800507
  Orphanet ID: 466794
  SNOMED CT ID: 1187643003

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
SCYL1	OTQ0IN7P	Strong	Autosomal recessive	[1]

References

• [1] An early onset progressive motor neuron disorder in Scyl1-deficient mice is associated with mislocalization of TDP-43. J Neurosci. 2012 Nov 21;32(47):16560-73. doi: 10.1523/JNEUROSCI.1787-12.2012.