Spinocerebellar ataxia 14

Preferred Label : Spinocerebellar ataxia 14;

Symbol : SCA14;

CISMeF acronym : SCA14;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein kinase C, gamma polypeptide gene (PRKCG, 176980.0001);

Prefixed ID : #605361;

Details

Origin ID

605361;

UMLS CUI

C1854369;

Broader ORDO disease(s)
- Autosomal dominant cerebellar ataxia type III [ORDO Disease]
Currated CISMeF NLP mapping
- Spinocerebellar ataxia 14 [MeSH concept]
- Spinocerebellar ataxia type 14 [ICD-11 More detail]
- Spinocerebellar ataxia type 14 [ORDO Disease]
- Spinocerebellar ataxia type 14 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 14 [Disease (Nov.)]
- spinocerebellar ataxia 14 [MeSH Supplementary Concept]
- spinocerebellar ataxia type 14 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 14 [DO Concept]
Genes related to phenotype
- Protein kinase C, gamma [OMIM gene]
HPO term(s)
- Adolescent onset [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Depression [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Facial myokymia [HPO term]
- Focal dystonia [HPO term]
- Gait ataxia [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibration sensation at ankles [HPO term]
- Incomplete penetrance [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Mental deterioration [HPO term]
- Nystagmus [HPO term]
- Progressive cerebellar ataxia [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 14 [ORDO Disease]
See also inter- (CISMeF)
- PRKCG wt Allele [NCIt concept]
- symbol withdrawn SCA14 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia 14 [MeSH concept]
- Spinocerebellar ataxia type 14 [ORDO Disease]
- Spinocerebellar ataxia type 14 [ICD-11 More detail]
- Spinocerebellar ataxia type 14 (disorder) [SNOMED CT concept]
- spinocerebellar ataxia 14 [MeSH Supplementary Concept]
- spinocerebellar ataxia 14 [Disease (Nov.)]
- spinocerebellar ataxia type 14 [DO Concept]

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