Spinocerebellar ataxia 17

Preferred Label : Spinocerebellar ataxia 17;

Symbol : SCA17;

CISMeF acronym : HDL4; SCA17;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : HDL4; Huntington disease-like 4; CPD2; Olivopontocerebellar atrophy V; Cerebelloparenchymal disorder II; OPCA5;

Description : SCA17 is an autosomal dominant neurologic disorder characterized by ataxia, pyramidal and extrapyramidal signs, cognitive impairments, psychosis, and seizures. Its clinical phenotype and inheritance pattern are similar to Huntington disease (HD; 143100). Individuals with normal TBP alleles have between 25 and 44 repeats, whereas SCA17 patients have between 47 and 63 repeats. Reduced penetrance is seen with 45 to 46 repeats (summary by Gao et al. (2008)).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by a trinucleotide repeat expansion (CAG)n in the TATA box-binding protein gene (TBP, 600075.0001);

Prefixed ID : #607136;

Détails

Origin ID

607136;

UMLS CUI

C1846707;

Automatic exact mappings (from CISMeF team)
- TATA-Box-Binding Protein [NCIt concept]
- TBP wt Allele [NCIt concept]
- spinocerebellar ataxias [MeSH Descriptor]
- symbol withdrawn SCA17 [HGNC gene]
Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar Ataxia Type 17 [NCIt concept]
- Spinocerebellar ataxia type 17 [ICD-11 More detail]
- Spinocerebellar ataxia type 17 [ORDO Disease]
- Spinocerebellar ataxia type 17 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 17 [Disease (Nov.)]
- spinocerebellar ataxia 17 [MeSH concept]
- spinocerebellar ataxia 17 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 17 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 17 [DO Concept]
Genes related to phenotype
- Tata box-binding protein [OMIM gene]
HPO term(s)
- Adult onset [HPO term]
- Aggressive behavior [HPO term]
- Apraxia [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bradykinesia [HPO term]
- Broad-based gait [HPO term]
- Cerebellar atrophy [HPO term]
- Chorea [HPO term]
- Confusion [HPO term]
- Dementia [HPO term]
- Depression [HPO term]
- Diffuse cerebral atrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Frontal lobe dementia [HPO term]
- Frontal release signs [HPO term]
- Gait ataxia [HPO term]
- Gaze-evoked nystagmus [HPO term]
- Gliosis [HPO term]
- Hallucinations [HPO term]
- Impaired pursuit initiation and maintenance [HPO term]
- Intention tremor [HPO term]
- Lack of insight [HPO term]
- Limb ataxia [HPO term]
- Mutism [HPO term]
- Myoclonus [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Paranoia [HPO term]
- Parkinsonism [HPO term]
- Positive Romberg sign [HPO term]
- Progressive [HPO term]
- Rigidity [HPO term]
- Seizure [HPO term]
- Urinary incontinence [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 17 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar Ataxia Type 17 [NCIt concept]
- Spinocerebellar ataxia type 17 [ORDO Disease]
- Spinocerebellar ataxia type 17 [ICD-11 More detail]
- Spinocerebellar ataxia type 17 (disorder) [SNOMED CT concept]
- cerebelloparenchymal disorder II [MeSH Supplementary Concept]
- spinocerebellar ataxia 17 [MeSH Supplementary Concept]
- spinocerebellar ataxia 17 [MeSH concept]
- spinocerebellar ataxia 17 [Disease (Nov.)]
- spinocerebellar ataxia type 17 [DO Concept]

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