Spinocerebellar ataxia 23

Preferred Label : Spinocerebellar ataxia 23;

Symbol : SCA23;

CISMeF acronym : SCA23;

Type : Phenotype, molecular basis known;

Description : Spinocerebellar ataxia-23 is an adult-onset autosomal dominant neurodegenerative disorder characterized by slowly progressive gait and limb ataxia, with variable additional features, including peripheral neuropathy and dysarthria (Bakalkin et al., 2010). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the prodynorphin gene (PDYN, 131340.0001);

Prefixed ID : #610245;

Details

Origin ID

610245;

UMLS CUI

C1853250;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type I [ORDO Disease]
CISMeF manual mappings
- Spinocerebellar ataxia type 23 (disorder) [SNOMED CT concept]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 23 [MeSH concept]
- Spinocerebellar ataxia type 23 [ICD-11 More detail]
- Spinocerebellar ataxia type 23 [ORDO Disease]
- spinocerebellar ataxia 23 [Disease (Nov.)]
- spinocerebellar ataxia 23 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 23 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 23 [DO Concept]
Genes related to phenotype
- Prodynorphin [OMIM gene]
HPO term(s)
- Agenesis of corpus callosum [HPO term]
- Autosomal dominant inheritance [HPO term]
- Babinski sign [HPO term]
- CNS demyelination [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Gait ataxia [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Limb ataxia [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Polyneuropathy [HPO term]
- Sensorimotor neuropathy [HPO term]
- Slow saccadic eye movements [HPO term]
- Slowly progressive [HPO term]
- Tremor [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 23 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 23 [MeSH concept]
- Spinocerebellar ataxia type 23 [ORDO Disease]
- Spinocerebellar ataxia type 23 [ICD-11 More detail]
- Spinocerebellar ataxia type 23 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 23 [MeSH Supplementary Concept]
- spinocerebellar ataxia 23 [Disease (Nov.)]
- spinocerebellar ataxia type 23 [DO Concept]

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