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MCID: ATX047
MIFTS: 18
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Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation
Categories:
Eye diseases, Mental diseases, Neuronal diseases
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Aliases & Classifications for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...
MalaCards integrated aliases for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:
Name: Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation
56
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
progressive disorder early childhood onset five patients have been reported (as of april 2011) HPO:31
ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation:
Inheritance autosomal recessive inheritance Onset and clinical course juvenile onset progressive Classifications: |
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OMIM :
56
This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy (Hogan and Bauman, 1977). (270500)
MalaCards based summary : Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation An important gene associated with Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation is HARS1 (Histidyl-TRNA Synthetase 1). Affiliated tissues include cerebellum, and related phenotypes are sensorineural hearing impairment and peripheral neuropathy |
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Symptoms & Phenotypes for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...
Human phenotypes related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:31 (showing 19, show less)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:270500 |
Drugs & Therapeutics for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic...
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MalaCards organs/tissues related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:40
Cerebellum
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Articles related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:(showing 3, show less)
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Genes related to Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation (1 elite genes):(showing 1, show less) - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation:6 (showing 7, show less)
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Search
GEO
for disease gene expression data for Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, with Optic Atrophy and Mental Retardation.
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