Spinocerebellar ataxia 34

Preferred Label : Spinocerebellar ataxia 34;

Symbol : SCA34;

CISMeF acronym : SCA34;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Erythrokeratodermia with ataxia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the elongation of very long chain fatty acids-like 4 gene (ELOVL4, 605512.0007);

Prefixed ID : #133190;

Détails

Origin ID

133190;

UMLS CUI

C1851481;

Currated CISMeF NLP mapping
- Erythrokeratodermia with ataxia [MeSH concept]
- Spinocerebellar ataxia type 34 [ORDO Disease]
- Spinocerebellar ataxia type 34 (disorder) [SNOMED CT concept]
- erythrokeratodermia with ataxia [MeSH Supplementary Concept]
- spinocerebellar ataxia type 34 [DO Concept]
DO Cross reference
- spinocerebellar ataxia type 34 [DO Concept]
Genes related to phenotype
- Elongation of very long chain fatty acids-like 4 [OMIM gene]
HPO term(s)
- Abnormal pyramidal sign [HPO term]
- Abnormality of the skin [HPO term]
- Ataxia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Fasciculations [HPO term]
- Gait ataxia [HPO term]
- Hyperkeratosis [HPO term]
- Hyperreflexia [HPO term]
- Hyporeflexia [HPO term]
- Impaired smooth pursuit [HPO term]
- Incomplete penetrance [HPO term]
- Intention tremor [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Peripheral axonal neuropathy [HPO term]
- Spasticity [HPO term]
- Supranuclear gaze palsy [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia type 34 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Erythrokeratodermia with ataxia [MeSH concept]
- Spinocerebellar ataxia type 34 [ORDO Disease]
- Spinocerebellar ataxia type 34 (disorder) [SNOMED CT concept]
- erythrokeratodermia with ataxia [MeSH Supplementary Concept]
- spinocerebellar ataxia type 34 [DO Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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