SCAR18
MCID: SPN292
MIFTS: 31
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Spinocerebellar Ataxia, Autosomal Recessive 18 (SCAR18)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 18:
Characteristics:Orphanet epidemiological data:58
autosomal recessive congenital cerebellar ataxia due to grid2 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy patients need support with walking or are wheelchair-bound two consanguineous turkish families have been reported (last curated january 2015) HPO:31
spinocerebellar ataxia, autosomal recessive 18:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases Mental diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Spinocerebellar ataxia, autosomal recessive, 18: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAR18 features include progressive cerebellar atrophy, delayed psychomotor development, severely impaired gait, ocular movement abnormalities, and intellectual disability.
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 18, also known as scar18, is related to autosomal recessive cerebellar ataxia and ataxia and polyneuropathy, adult-onset, and has symptoms including dysdiadochokinesis, gait ataxia and cerebellar ataxia. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 18 is GRID2 (Glutamate Ionotropic Receptor Delta Type Subunit 2). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are limb ataxia and truncal ataxia Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability and that has material basis in homozygous mutation in the GRID2 gene on chromosome 4q22. OMIM® : 57 Autosomal recessive spinocerebellar ataxia-18 is a neurologic disorder characterized by delayed psychomotor development, severely impaired gait due to cerebellar ataxia, ocular movement abnormalities, and intellectual disability. Brain imaging shows progressive cerebellar atrophy (summary by Hills et al., 2013). (616204) (Updated 05-Mar-2021) |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 18:58 31 (show all 26)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:616204 (Updated 05-Mar-2021)UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 18:dysdiadochokinesis, gait ataxia, cerebellar ataxia, ataxia, truncal |
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MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 18:40
Eye,
Cerebellum,
Spinal Cord,
Brain
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Articles related to Spinocerebellar Ataxia, Autosomal Recessive 18:
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ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 18:6
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 18:73
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Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 18.
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