SCAR13
MCID: SPN258
MIFTS: 37
|
Spinocerebellar Ataxia, Autosomal Recessive 13 (SCAR13)
Categories:
Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases
|
|
MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive 13:
Characteristics:Orphanet epidemiological data:58
autosomal recessive congenital cerebellar ataxia due to mglur1 deficiency
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy slowly progressive observed in individuals of bulgarian roma bowlmaker ethnic group HPO:31
spinocerebellar ataxia, autosomal recessive 13:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset slow progression Classifications:
MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases Fetal diseases Anatomical: Neuronal diseases Mental diseases Eye diseases Liver diseases Skin diseases Ear diseases Muscle diseases
ICD10:
33
Orphanet: 58
![]() ![]() |
UniProtKB/Swiss-Prot :
73
Spinocerebellar ataxia, autosomal recessive, 13: 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. SCAR13 is characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia.
MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive 13, also known as scar13, is related to ataxia and polyneuropathy, adult-onset and cerebellar ataxia type 41, and has symptoms including dysdiadochokinesis An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive 13 is GRM1 (Glutamate Metabotropic Receptor 1), and among its related pathways/superpathways are Transmission across Chemical Synapses and Circadian entrainment. Affiliated tissues include eye, brain and cerebellum, and related phenotypes are intellectual disability and hyperreflexia Disease Ontology : 12 An autosomal recessive cerebellar ataxia that is characterized by delayed psychomotor development beginning in infancy and that has material basis in homozygous mutation in the GRM1 gene on chromosome 6q24. OMIM : 56 Autosomal recessive spinocerebellar ataxia-13 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development beginning in infancy. Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia. Most individuals also have eye movement abnormalities. Brain MRI shows cerebellar atrophy and ventriculomegaly (summary by Guergueltcheva et al., 2012). (614831) |
Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive 13:58 31 (show all 30)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:614831UMLS symptoms related to Spinocerebellar Ataxia, Autosomal Recessive 13:dysdiadochokinesis |
|
MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive 13:40
Eye,
Brain,
Cerebellum,
Spinal Cord
|
Articles related to Spinocerebellar Ataxia, Autosomal Recessive 13:
|
ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:6
UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive 13:73
|
Search
GEO
for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 13.
|
Pathways related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:
|
Cellular components related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:
Biological processes related to Spinocerebellar Ataxia, Autosomal Recessive 13 according to GeneCards Suite gene sharing:
|
|