Spinocerebellar ataxia 10

Preferred Label : Spinocerebellar ataxia 10;

Symbol : SCA10;

CISMeF acronym : SCA10;

Type : Phenotype, molecular basis known;

Description : The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a pentanucleotide repeat expansion (ATTCT)n in the ataxin 10 gene (ATXN10, 603516.0001).;

Prefixed ID : #603516;

Details

Origin ID

603516;

UMLS CUI

C1963674;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia type 10 [ICD-11 More detail]
- Spinocerebellar ataxia type 10 [ORDO Disease]
- Spinocerebellar ataxia type 10 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 10 [Disease (Nov.)]
- spinocerebellar ataxia 10 [MeSH concept]
- spinocerebellar ataxia 10 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 10 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 10 [DO Concept]
Genes related to phenotype
- Ataxin 10 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of extrapyramidal motor function [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Decreased nerve conduction velocity [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Gait ataxia [HPO term]
- Genetic anticipation [HPO term]
- Hyperreflexia [HPO term]
- Incomplete penetrance [HPO term]
- Incoordination [HPO term]
- Limb ataxia [HPO term]
- Morphological abnormality of the pyramidal tract [HPO term]
- Nystagmus [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Scanning speech [HPO term]
- Seizure [HPO term]
- Urinary incontinence [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 10 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia type 10 [ORDO Disease]
- Spinocerebellar ataxia type 10 [ICD-11 More detail]
- Spinocerebellar ataxia type 10 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 10 [MeSH Supplementary Concept]
- spinocerebellar ataxia 10 [MeSH concept]
- spinocerebellar ataxia 10 [Disease (Nov.)]
- spinocerebellar ataxia type 10 [DO Concept]
Validated automatic mappings to NTBT
- spinocerebellar ataxias [MeSH Descriptor]

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