Spastic ataxia, charlevoix-saguenay type

Preferred Label : Spastic ataxia, charlevoix-saguenay type;

Symbol : SACS;

CISMeF acronym : ARSACS; SACS; SPAX6;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Spastic ataxia 6, autosomal recessive; Autosomal recessive spastic ataxia of charlevoix-saguenay; SPAX6; Charlevoix-saguenay spastic ataxia; ARSACS;

Description : Autosomal recessive spastic ataxia of Charlevoix-Saguenay is a complex Neurodegenerative disorder usually characterized by early childhood onset of cerebellar ataxia, pyramidal tract signs, and peripheral neuropathy. Most patients become wheelchair-bound; cognitive function is usually not affected. Some patients may have atypical features, such as later onset or initial presentation of peripheral neuropathy (summary by Baets et al., 2010).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the sacsin gene (SACS, 604490.0001);

Prefixed ID : #270550;

Details

Origin ID

270550;

UMLS CUI

C1849140;

Automatic exact mappings (from CISMeF team)
- SACS gene [LOINC component]
- sacsin molecular chaperone [ORDO Gene]
- sacsin molecular chaperone [HGNC gene]
- spindle assembly checkpoint [GO term]
- subapical complex [GO term]
Currated CISMeF NLP mapping
- ARSACS [MedDRA LLT]
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay [NCIt concept]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ICD-11 More detail]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [MedDRA LLT]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) [SNOMED CT concept]
- Charlevoix-Saguenay spastic ataxia [DO Concept]
- Spastic ataxia Charlevoix-Saguenay type [MeSH concept]
- autosomal recessive spastic ataxia of Charlevoix Saguenay [Disease (Nov.)]
- spastic ataxia Charlevoix-Saguenay type [MeSH Supplementary Concept]
DO Cross reference
- Charlevoix-Saguenay spastic ataxia [DO Concept]
Genes related to phenotype
- Sacsin [OMIM gene]
HPO term(s)
- Absent Achilles reflex [HPO term]
- Amyotrophy, distal, severe [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Cerebellar vermis atrophy [HPO term]
- Decreased motor nerve conduction velocity [HPO term]
- Decreased number of large peripheral myelinated nerve fibers [HPO term]
- Decreased sensory nerve conduction velocity [HPO term]
- Distal amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensation loss [HPO term]
- Distal sensory impairment [HPO term]
- Dysarthria [HPO term]
- Dysmetria [HPO term]
- Falls [HPO term]
- Hammertoe [HPO term]
- Hyperactive patellar reflex [HPO term]
- Hypermyelinated retinal nerve fibers [HPO term]
- Hyperreflexia [HPO term]
- Impaired smooth pursuit [HPO term]
- Impaired vibration sensation in the lower limbs [HPO term]
- Infantile onset [HPO term]
- Intellectual disability [HPO term]
- Loss of Purkinje cells in the cerebellar vermis [HPO term]
- Nystagmus [HPO term]
- Onion bulb formation [HPO term]
- Peroneal muscle atrophy [HPO term]
- Pes cavus [HPO term]
- Progressive gait ataxia [HPO term]
- Progressive truncal ataxia [HPO term]
- Scanning speech [HPO term]
- Scoliosis [HPO term]
- Spastic ataxia [HPO term]
- Spastic gait [HPO term]
- Spasticity [HPO term]
- Swan neck-like deformities of the fingers [HPO term]
- Upper motor neuron dysfunction [HPO term]
- Urinary urgency [HPO term]
ORDO concept(s)
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- ARSACS [MedDRA LLT]
- Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay [NCIt concept]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ORDO Disease]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [ICD-11 More detail]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay [MedDRA LLT]
- Autosomal recessive spastic ataxia of Charlevoix-Saguenay (disorder) [SNOMED CT concept]
- Charlevoix-Saguenay spastic ataxia [DO Concept]
- Spastic ataxia Charlevoix-Saguenay type [MeSH concept]
- autosomal recessive spastic ataxia of Charlevoix Saguenay [Disease (Nov.)]
- spastic ataxia Charlevoix-Saguenay type [MeSH Supplementary Concept]

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