SPAX1
MCID: SPS072
MIFTS: 27
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Spastic Ataxia 1, Autosomal Dominant (SPAX1)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spastic Ataxia 1, Autosomal Dominant:
Characteristics:Orphanet epidemiological data:58
autosomal dominant spastic ataxia type 1
Inheritance: Autosomal dominant; Age of onset: Childhood; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable severity onset between 10 and 20 years of age prevalent in newfoundland HPO:31
spastic ataxia 1, autosomal dominant:
Inheritance autosomal dominant inheritance Onset and clinical course variable expressivity Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
Orphanet: 58
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OMIM :
56
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 onset between the ages of 10 and 20 years. Other clinical features are supranuclear gaze palsy, hyperreflexia, hypertonicity, dystonia, pes cavus, mild ptosis, and decreased vibration sense in the lower limbs. Symptom severity is variable, but neither lipfe span nor cognition is affected (summary by Meijer et al., 2002 and Bourassa et al., 2012).
(108600)
MalaCards based summary : Spastic Ataxia 1, Autosomal Dominant, also known as ataxia, spastic, 1, autosomal dominant, is related to spastic ataxia 2, autosomal recessive and spastic ataxia 5, autosomal recessive, and has symptoms including memory loss and cerebellar ataxia. An important gene associated with Spastic Ataxia 1, Autosomal Dominant is VAMP1 (Vesicle Associated Membrane Protein 1). Affiliated tissues include eye, and related phenotypes are hyperreflexia and supranuclear gaze palsy UniProtKB/Swiss-Prot : 73 Spastic ataxia 1, autosomal dominant: An autosomal dominant form of spastic ataxia, a progressive neurodegenerative disorder characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. |
Human phenotypes related to Spastic Ataxia 1, Autosomal Dominant:58 31 (show all 29)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:108600UMLS symptoms related to Spastic Ataxia 1, Autosomal Dominant:memory loss, cerebellar ataxia |
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MalaCards organs/tissues related to Spastic Ataxia 1, Autosomal Dominant:40
Eye
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Articles related to Spastic Ataxia 1, Autosomal Dominant:
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ClinVar genetic disease variations for Spastic Ataxia 1, Autosomal Dominant:6
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GEO
for disease gene expression data for Spastic Ataxia 1, Autosomal Dominant.
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