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SPAX2
MCID: SPS142
MIFTS: 32
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Spastic Ataxia 2, Autosomal Recessive (SPAX2)
Categories:
Eye diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Spastic Ataxia 2, Autosomal Recessive:
Characteristics:Orphanet epidemiological data:58
autosomal spastic paraplegia type 58
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; OMIM®:57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder patients remain ambulatory onset in teenage years HPO:31
spastic ataxia 2, autosomal recessive:
Inheritance autosomal recessive inheritance Onset and clinical course progressive Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Neuronal diseases Eye diseases
ICD10:
33
Orphanet: 58
Rare neurological diseases |
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OMIM® :
57
Autosomal recessive spastic ataxia is a neurologic disorder characterized by onset in the first 2 decades of cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected (summary by Dor et al., 2014).
For a discussion of genetic heterogeneity of spastic ataxia, see SPAX1 (108600). (611302) (Updated 05-Apr-2021)
MalaCards based summary : Spastic Ataxia 2, Autosomal Recessive, also known as ataxia, spastic, 2, autosomal recessive, is related to spastic ataxia and aceruloplasminemia, and has symptoms including tremor, head titubation and muscular fasciculation. An important gene associated with Spastic Ataxia 2, Autosomal Recessive is KIF1C (Kinesin Family Member 1C). Related phenotypes are dysarthria and hypodontia UniProtKB/Swiss-Prot : 72 Spastic ataxia 2, autosomal recessive: A neurologic disorder characterized by cerebellar ataxia, dysarthria, and variable spasticity of the lower limbs. Cognition is not affected. |
Diseases in the Spastic Ataxia family:Diseases related to Spastic Ataxia 2, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:
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Human phenotypes related to Spastic Ataxia 2, Autosomal Recessive:58 31 (show all 34)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Apr-2021)Clinical features from OMIM®:611302 (Updated 05-Apr-2021)UMLS symptoms related to Spastic Ataxia 2, Autosomal Recessive:tremor; head titubation; muscular fasciculation; cerebellar ataxia GenomeRNAi Phenotypes related to Spastic Ataxia 2, Autosomal Recessive according to GeneCards Suite gene sharing:26
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Articles related to Spastic Ataxia 2, Autosomal Recessive:
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Genes related to Spastic Ataxia 2, Autosomal Recessive (2 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Spastic Ataxia 2, Autosomal Recessive:6 (show top 50) (show all 117)
UniProtKB/Swiss-Prot genetic disease variations for Spastic Ataxia 2, Autosomal Recessive:72
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Search
GEO
for disease gene expression data for Spastic Ataxia 2, Autosomal Recessive.
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