Spinocerebellar ataxia, autosomal recessive 26

Preferred Label : Spinocerebellar ataxia, autosomal recessive 26;

Symbol : SCAR26;

CISMeF acronym : SCAR26;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the X-ray repair, complementing defective, in Chinese hamster, 1 gene (XRCC1, 194360.0001);

Prefixed ID : #617633;

Details

Origin ID

617633;

UMLS CUI

C4539948;

Automatic exact mappings (from CISMeF team)
- autosomal recessive spinocerebellar ataxia 26 [DO Concept]
DO Cross reference
- autosomal recessive spinocerebellar ataxia 26 [DO Concept]
Genes related to phenotype
- X-ray repair cross complementing 1 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar atrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Hypermetric saccades [HPO term]
- Limb ataxia [HPO term]
- Nystagmus [HPO term]
- Oculomotor apraxia [HPO term]
- Positive Romberg sign [HPO term]
- Progressive [HPO term]
- Sensorimotor neuropathy [HPO term]
- Unsteady gait [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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