SPAX3
MCID: SPS136
MIFTS: 26
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Spastic Ataxia 3, Autosomal Recessive (SPAX3)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spastic Ataxia 3, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:58
autosomal recessive spastic ataxia with leukoencephalopathy
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
variable age at onset (range 2 to 59 years, mean 24 years) high intrafamilial and interfamilial variability high frequency among french-canadians about 50% of patients become wheelchair-bound at an average age of 37 years HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spastic ataxia 3, autosomal recessive: A neurologic disorder characterized by cerebellar ataxia, ataxic gait, spasticity, and hyperreflexia. Other variable features include dysarthria, dysmetria, mild cognitive impairment, urinary urgency and dystonic positioning.
MalaCards based summary : Spastic Ataxia 3, Autosomal Recessive, also known as ataxia, spastic, 3, autosomal recessive, is related to leigh syndrome and ataxia and polyneuropathy, adult-onset, and has symptoms including gait ataxia, muscle spasticity and cerebellar ataxia. An important gene associated with Spastic Ataxia 3, Autosomal Recessive is MARS2 (Methionyl-TRNA Synthetase 2, Mitochondrial). Related phenotypes are hyperreflexia and cerebellar hypoplasia |
Diseases in the Spastic Ataxia family:Diseases related to Spastic Ataxia 3, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Spastic Ataxia 3, Autosomal Recessive:![]() |
Human phenotypes related to Spastic Ataxia 3, Autosomal Recessive:58 31 (show all 20)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:611390UMLS symptoms related to Spastic Ataxia 3, Autosomal Recessive:gait ataxia, muscle spasticity, cerebellar ataxia |
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Articles related to Spastic Ataxia 3, Autosomal Recessive:
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ClinVar genetic disease variations for Spastic Ataxia 3, Autosomal Recessive:6
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Search
GEO
for disease gene expression data for Spastic Ataxia 3, Autosomal Recessive.
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