Details of Disease

General Information of Disease (ID: DISDBSE9)

• Disease Name: Autosomal recessive spinocerebellar ataxia 13
• Synonyms: spinocerebellar ataxia, autosomal recessive 13; autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency; SCAR13; GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome; spinocerebellar ataxia, autosomal recessive type 13; GRM1 autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome; autosomal recessive spinocerebellar ataxia type 13; autosomal recessive spinocerebellar ataxia 13; autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency; autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1; autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome caused by mutation in GRM1
• Definition: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain.
• Disease Hierarchy:
  DISBKE7T: Autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome
  DISDBSE9: Autosomal recessive spinocerebellar ataxia 13
• Disease Identifiers:
  MONDO ID: MONDO_0013905
  UMLS CUI: C3553816
  OMIM ID: 614831
  MedGen ID: 766730
  Orphanet ID: 324262

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GRM1	TTVBPDM	Disputed	Genetic Variation	[1]
GRM1	TTVBPDM	Strong	Autosomal recessive	[2]

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
GRM1	OT7OL93K	Strong	Autosomal recessive	[2]

References

• [1] The Role of a Novel TRMT1 Gene Mutation and Rare GRM1 Gene Defect in Intellectual Disability in Two Azeri Families.PLoS One. 2015 Aug 26;10(8):e0129631. doi: 10.1371/journal.pone.0129631. eCollection 2015.
• [2] Autosomal-recessive congenital cerebellar ataxia is caused by mutations in metabotropic glutamate receptor 1. Am J Hum Genet. 2012 Sep 7;91(3):553-64. doi: 10.1016/j.ajhg.2012.07.019. Epub 2012 Aug 16.