Spastic ataxia 1, autosomal dominant

Preferred Label : Spastic ataxia 1, autosomal dominant;

Symbol : SPAX1;

CISMeF acronym : SPAX1;

Type : Phenotype, molecular basis known;

Description : Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with linkage to chromosome 12p13 (summary by Meijer et al., 2002). - Genetic Heterogeneity of Spastic Ataxia See also SPAX2 (611302), caused by mutation in the KIF1C gene (603060) on chromosome 17p13; SPAX3 (611390), caused by rearrangements of the;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the vesicle-associated membrane protein 1 gene (VAMP1, 185880.0001);

Prefixed ID : #108600;

Details

Origin ID

108600;

UMLS CUI

C1970107;

Currated CISMeF NLP mapping
- Autosomal dominant spastic ataxia type 1 [ORDO Disease]
- Autosomal dominant spastic ataxia type 1 (disorder) [SNOMED CT concept]
- ataxia, spastic, 1, autosomal dominant [MeSH concept]
- ataxia, spastic, 1, autosomal dominant [MeSH Supplementary Concept]
DO Cross reference
- spastic ataxia 1 [DO Concept]
Genes related to phenotype
- Vesicle-associated membrane protein 1 [OMIM gene]
HPO term(s)
- Abnormality of eye movement [HPO term]
- Autosomal dominant inheritance [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Dystonia [HPO term]
- Gait disturbance [HPO term]
- Hyperreflexia [HPO term]
- Leg muscle stiffness [HPO term]
- Memory impairment [HPO term]
- Memory loss [HPO term]
- Pes cavus [HPO term]
- Ptosis [HPO term]
- Slow saccadic eye movements [HPO term]
- Spastic ataxia [HPO term]
- Spastic paraplegia [HPO term]
- Supranuclear gaze palsy [HPO term]
- Variable expressivity [HPO term]
ORDO concept(s)
- Autosomal dominant spastic ataxia type 1 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant spastic ataxia type 1 [ORDO Disease]
- Autosomal dominant spastic ataxia type 1 (disorder) [SNOMED CT concept]
- ataxia, spastic, 1, autosomal dominant [MeSH Supplementary Concept]
- ataxia, spastic, 1, autosomal dominant [MeSH concept]

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