Spinocerebellar ataxia type 15/16

Spinocerebellar ataxia type 15/16 (SCA15/16) is a rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia, tremor and cognitive impairment.



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 8

HPO ID Term Frequency
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001272 Cerebellar atrophy Frequent (79-30%)
HP:0001347 Hyperreflexia Frequent (79-30%)
HP:0002066 Gait ataxia Frequent (79-30%)
HP:0002345 Action tremor Frequent (79-30%)
HP:0002346 Head tremor Frequent (79-30%)
HP:0007351 Upper limb postural tremor Frequent (79-30%)
HP:0030188 Tremor by anatomical site Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ITPR1 inositol 1,4,5-trisphosphate receptor type 1 3708