Spinocerebellar ataxia 15

Preferred Label : Spinocerebellar ataxia 15;

Symbol : SCA15;

CISMeF acronym : SCA15; SCA16;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : SCA16; Spinocerebellar ataxia 16;

Description : SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011). Heterozgous mutation in the ITPR1 gene can also cause SCA29 (117360), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment. Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by Harding (1983, 1993), is a genetically heterogeneous disorder (see, e.g., 117210). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the inositol 1,4,5-triphosphate receptor, type 1 gene (ITPR1, 147265);

Prefixed ID : #606658;

Details

Origin ID

606658;

UMLS CUI

C1847725;

Automatic exact mappings (from CISMeF team)
- Spinocerebellar ataxia type 16 [ORDO Disease]
Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 15 [ICD-11 More detail]
- Spinocerebellar ataxia type 15/16 [ORDO Disease]
- Spinocerebellar ataxia type 15/16 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 15 [Disease (Nov.)]
- spinocerebellar ataxia 15 [MeSH concept]
- spinocerebellar ataxia 15 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 15 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 15 [DO Concept]
Genes related to phenotype
- Inositol 1,4,5-triphosphate receptor, type 1 [OMIM gene]
HPO term(s)
- Action tremor [HPO term]
- Adult onset [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetric saccades [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked horizontal nystagmus [HPO term]
- Hyperreflexia [HPO term]
- Impaired smooth pursuit [HPO term]
- Juvenile onset [HPO term]
- Limb ataxia [HPO term]
- Postural tremor [HPO term]
- Scanning speech [HPO term]
- Slowly progressive [HPO term]
- Truncal ataxia [HPO term]
- Very slow progression [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 15/16 [ORDO Disease]
- Spinocerebellar ataxia type 16 [ORDO Disease]
See also inter- (CISMeF)
- ITPR1 wt Allele [NCIt concept]
- Spinocerebellar ataxia type 16 [ICD-11 More detail]
- symbol withdrawn SCA15 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 15 [ICD-11 More detail]
- Spinocerebellar ataxia type 15/16 [ORDO Disease]
- Spinocerebellar ataxia type 15/16 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 15 [MeSH Supplementary Concept]
- spinocerebellar ataxia 15 [MeSH concept]
- spinocerebellar ataxia 15 [Disease (Nov.)]
- spinocerebellar ataxia type 15 [DO Concept]

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