Spinocerebellar ataxia, autosomal recessive 7

Preferred Label : Spinocerebellar ataxia, autosomal recessive 7;

Symbol : SCAR7;

CISMeF acronym : SCAR7;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the tripeptidyl peptidase 1 gene (TPP1, 607998.0004);

Prefixed ID : #609270;

Détails

Origin ID

609270;

UMLS CUI

C1836474;

Currated CISMeF NLP mapping
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [ORDO Disease]
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 7 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 7 [MeSH concept]
- spinocerebellar ataxia, autosomal recessive 7 [MeSH Supplementary Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 7 [DO Concept]
Genes related to phenotype
- Tripeptidyl peptidase I [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar atrophy [HPO term]
- Clumsiness [HPO term]
- Decreased vibration sense, suggesting posterior column involvement [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Gait ataxia [HPO term]
- Hypermetric saccades [HPO term]
- Hyperreflexia [HPO term]
- Impaired vibratory sensation [HPO term]
- Juvenile onset [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Postural tremor [HPO term]
- Saccadic slow pursuit [HPO term]
- Saccadic smooth pursuit [HPO term]
- Slowly progressive [HPO term]
ORDO concept(s)
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia [ORDO Disease]
- Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia (disorder) [SNOMED CT concept]
- autosomal recessive spinocerebellar ataxia 7 [DO Concept]
- spinocerebellar ataxia, autosomal recessive 7 [MeSH Supplementary Concept]
- spinocerebellar ataxia, autosomal recessive 7 [MeSH concept]

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