Spastic ataxia 5, autosomal recessive

Preferred Label : Spastic ataxia 5, autosomal recessive;

Symbol : SPAX5;

CISMeF acronym : SPAX5;

Type : Phenotype, molecular basis known;

Description : Spastic ataxia-5 (SPAX5) is an autosomal recessive neurodegenerative disorder characterized by early-onset spasticity resulting in significantly impaired ambulation, cerebellar ataxia, oculomotor apraxia, dystonia, and myoclonic epilepsy (summary by Pierson et al., 2011). For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the ATPase family gene 3-like 2 gene (AFG3L2, 604581.0010);

Prefixed ID : #614487;

Details

Origin ID

614487;

UMLS CUI

C3280977;

Automatic exact mappings (from CISMeF team)
- AFG3 like matrix AAA peptidase subunit 2 [ORDO Gene]
- AFG3 like matrix AAA peptidase subunit 2 [HGNC gene]
Currated CISMeF NLP mapping
- Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) [SNOMED CT concept]
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome [ORDO Disease]
- spastic ataxia 5 [DO Concept]
DO Cross reference
- spastic ataxia 5 [DO Concept]
Genes related to phenotype
- Afg3-like matrix aaa peptidase, subunit 2 [OMIM gene]
HPO term(s)
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Cerebellar atrophy [HPO term]
- Cognitive impairment [HPO term]
- Dysarthria [HPO term]
- Dysdiadochokinesis [HPO term]
- Dysmetria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Generalized myoclonic seizure [HPO term]
- Increased intramyocellular lipid droplets [HPO term]
- Infantile onset [HPO term]
- Muscle weakness [HPO term]
- Myoclonus [HPO term]
- Oculomotor apraxia [HPO term]
- Progressive [HPO term]
- Ptosis [HPO term]
- Sensorimotor neuropathy [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spastic ataxia [HPO term]
- Spastic paraparesis [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early-onset spastic ataxia, myoclonic epilepsy, neuropathy syndrome (disorder) [SNOMED CT concept]
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome [ORDO Disease]

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