Spinocerebellar Ataxia 31 (SCA31)

External Ids:

Disease Ontology 12 DOID:0050980 OMIM 58 117210 MeSH 45 D020754 ICD10 via Orphanet 35 G11.8 UMLS via Orphanet 75 C1861736

Orphanet 60 ORPHA217012 MedGen 43 C1861736 SNOMED-CT via HPO 70 103276001 130980003 15188001 221360009 25136009 26079004 263681008 343087000 397790002 405946002 563001 60700002 8011004 85102008 95646004 95828007 more UMLS 74 C1861736

NIH Rare Diseases : ⁵⁴ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 217012Disease definitionSpinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.EpidemiologySCA31 is the third most common form of ADCA (see this term) in Japan, where more than 20 families have been reported to date. It is rarely found in other Asian countries and is extremely rare in Western countries.Clinical descriptionThe mean age of disease onset is 58 years but it can present between the ages of 8 to 83 years. Ataxia, dysarthria, and horizontal gaze nystagmus are the common manifestations of SCA31 and the disease duration can be more than 10 years. Less common manifestations include pyramidal signs, tremor, decreased vibration sense, and hearing difficulties.EtiologySCA31 is due to non-coding pentanucleotide repeat expansions in the BEAN1 gene (16q21), encoding protein BEAN1.Genetic counselingSCA31 is inherited autosomal dominantly with incomplete penetrance and genetic counseling is possible.Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 31, also known as spinocerebellar ataxia type 31, is related to spinocerebellar ataxia 1 and autosomal dominant cerebellar ataxia, and has symptoms including gait ataxia An important gene associated with Spinocerebellar Ataxia 31 is BEAN1 (Brain Expressed Associated With NEDD4 1). Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are dysarthria and gait ataxia

Disease Ontology : ¹² An autosomal dominant cerebellar ataxia that is characterized by late-onset ataxia, dysarthria and horizontal nystagmus, has material basis in repeat expansion mutation in the BEAN1 gene.

UniProtKB/Swiss-Prot : ⁷⁶ Spinocerebellar ataxia 31: 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. SCA31 belongs to the autosomal dominant cerebellar ataxias type III (ADCA III) which are characterized by pure cerebellar ataxia without additional signs.

Description from OMIM: 117210

Clinical features from OMIM:

117210

#	Description	GenomeRNAi Source Accession	Score	Top Affiliating Genes
1	Decreased homologous recombination repair frequency	GR00151-A-1	9.02	ATXN3 HNRNPA2B1 SACS SETX
2	Decreased homologous recombination repair frequency	GR00151-A-2	9.02	ATXN3

Search NIH Clinical Center for Spinocerebellar Ataxia 31

Search GEO for disease gene expression data for Spinocerebellar Ataxia 31.