Spinocerebellar Ataxia, Autosomal Recessive 18 (SCAR18)

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Disease Ontology 12 DOID:0080042 OMIM® 57 616204 OMIM Phenotypic Series 57 PS213200 MeSH 44 D002524 D013132 ICD10 via Orphanet 33 G11.1

Orphanet 58 ORPHA363432 MedGen 41 C4015505 CN225382 SNOMED-CT via HPO 68 16596007 193662007 203598005 224958001 228158008 23133003 246586009 250067008 25136009 258211005 278849000 281016006 29356006 302200001 302289002 32566006 366575004 385522000 386806002 418143002 52522001 55033002 563001 57048009 7890003 8011004 81756001 86854008 88565003 95646004 more UMLS 71 C4015505

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)

Clinical features from OMIM®:

616204 (Updated 05-Mar-2021)

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive 18

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive 18.