Spinocerebellar ataxia 2

Preferred Label : Spinocerebellar ataxia 2;

Symbol : SCA2;

CISMeF acronym : ALS13; OPCA2; SCA2; SDSEM;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spinocerebellar atrophy II; Olivopontocerebellar atrophy, holguin type; Olivopontocerebellar atrophy II; Spinocerebellar ataxia, cuban type; Cerebellar degeneration with slow eye movements; Wadia-swami syndrome; Spinocerebellar degeneration with slow eye movements; OPCA2; SDSEM;

Included titles and symbols : Amyotrophic lateral sclerosis, susceptibility to, 13; ALS13;

Description : Autosomal dominant cerebellar ataxias (ADCAs) are a heterogeneous group of disorders that were classified clinically by Harding (1983). Progressive cerebellar ataxia is the primary feature. In ADCA I, cerebellar ataxia of gait and limbs is invariably associated with supranuclear ophthalmoplegia, pyramidal or extrapyramidal signs, mild dementia, and peripheral neuropathy. In ADCA II, macular and retinal degeneration are added to the features. ADCA III is a pure form of late-onset cerebellar ataxia. ADCA I includes SCA1 (164400), SCA2, and SCA3, or Machado-Joseph disease (109150). These 3 are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by expanded CAG trinucleotide repeats in the ataxin-2 gene (ATX2, 601517.0001).;

Prefixed ID : #183090;

Details

Origin ID

183090;

UMLS CUI

C0752121;

Automatic exact mappings (from CISMeF team)
- ATXN2 wt Allele [NCIt concept]
- Lymphocyte Antigen 6E [NCIt concept]
- olivopontocerebellar atrophy [DO Concept]
- spinocerebellar ataxias [MeSH Descriptor]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 2 [NCIt concept]
- Spinocerebellar ataxia type 2 [ICD-11 More detail]
- Spinocerebellar ataxia type 2 [ORDO Disease]
- Spinocerebellar ataxia type 2 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 2 [Disease (Nov.)]
- spinocerebellar ataxia type 2 [DO Concept]
- spinocerebellar ataxia type 2 [MeSH concept]
DO Cross reference
- spinocerebellar ataxia type 2 [DO Concept]
Genes related to phenotype
- Ataxin 2 [OMIM gene]
HPO term(s)
- Action and postural tremor [HPO term]
- Action tremor [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Dementia [HPO term]
- Dilated fourth ventricle [HPO term]
- Distal amyotrophy [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysmetric saccades [HPO term]
- Dysphagia [HPO term]
- Fasciculations [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Generalized hypotonia [HPO term]
- Genetic anticipation [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Impaired horizontal smooth pursuit [HPO term]
- Impaired vibratory sensation [HPO term]
- Limb ataxia [HPO term]
- Myoclonus [HPO term]
- Oculomotor apraxia [HPO term]
- Olivopontocerebellar atrophy [HPO term]
- Ophthalmoplegia [HPO term]
- Parkinsonism [HPO term]
- Postural instability [HPO term]
- Postural tremor [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Rigidity [HPO term]
- Rod-cone dystrophy [HPO term]
- Slow saccadic eye movements [HPO term]
- Spasticity [HPO term]
- Sphincter disturbance [HPO term]
- Spinocerebellar tract degeneration [HPO term]
- Urinary bladder sphincter dysfunction [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 2 [ORDO Disease]
See also inter- (CISMeF)
- LY6E wt Allele [NCIt concept]
- SCA2 gene [LOINC component]
- amyotrophic lateral sclerosis type 13 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 2 [NCIt concept]
- Spinocerebellar ataxia type 2 [ORDO Disease]
- Spinocerebellar ataxia type 2 [ICD-11 More detail]
- Spinocerebellar ataxia type 2 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 2 [Disease (Nov.)]
- spinocerebellar ataxia type 2 [MeSH concept]
- spinocerebellar ataxia type 2 [DO Concept]
Validated automatic mappings to NTBT
- Olivopontocerebellar Atrophy [NCIt concept]
- olivopontocerebellar atrophies [MeSH Descriptor]

Keyword's position in hierarchy(ies) :

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