eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spinocerebellar ataxia 5 | ||||
| Disease ID | 1759 |
|---|---|
| Disease | spinocerebellar ataxia 5 |
| Definition | Disease with characteristics of early-onset of cerebellar signs with eye movement abnormalities and a very slow disease progression.Three families have been reported to date. Clinical manifestations include cerebellar signs (ataxia, dysarthria, and intention tremor) and eye movement abnormalities such as gaze-evoked nystagmus, down beat nystagmus, and impaired smooth pursuit. Occasionally defects of the visual field and horizontal gaze palsy can be also present. Non-cerebellar signs such as facial myokymia, resting tremor, writer's cramp, impaired vibration sense and brisk deep tendon reflexes have been reported in some patients. Caused by mutations in the SPTBN2 gene (11q13.2) encoding beta-III spectrin, a protein essential for the correct functioning and development of Purkinje cells. Inherited autosomal dominantly. |
| Synonym | ataxia 5, spinocerebellar ataxia 5s, spinocerebellar sca5 spinocerebellar ataxia 5s spinocerebellar ataxia type 005 spinocerebellar ataxia type 5 spinocerebellar ataxia type 5 (disorder) spinocerebellar ataxia-5 type 5 spinocerebellar ataxia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0752123 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:12) 287 | ANK2 | 3.187 | DISEASES 773 | CACNA1A | 1.693 | DISEASES 1760 | DMPK | 2.19 | DISEASES 80331 | DNAJC5 | 3.187 | DISEASES 9829 | DNAJC6 | 3.503 | DISEASES 1785 | DNM2 | 1.776 | DISEASES 26275 | HIBCH | 4.013 | DISEASES 3710 | ITPR3 | 2.743 | DISEASES 4221 | MEN1 | 1.223 | DISEASES 5923 | RASGRF1 | 3.283 | DISEASES 7536 | SF1 | 3.828 | DISEASES 6709 | SPTAN1 | 2.716 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1759 |
|---|---|
| Disease | spinocerebellar ataxia 5 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1759 |
|---|---|
| Disease | spinocerebellar ataxia 5 |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:10) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121918306 | 20603325 | 10121 | ACTR1A | umls:C0752123 | BeFree | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 0.000271442 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | 20603325 | 9068 | ANGPTL1 | umls:C0752123 | BeFree | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 0.000271442 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | 20603325 | 6712 | SPTBN2 | umls:C0752123 | BeFree | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 0.442442977 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | 20603325 | 10930 | APOBEC2 | umls:C0752123 | BeFree | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 0.000271442 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | 20603325 | 7026 | NR2F2 | umls:C0752123 | BeFree | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 0.000271442 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | 20603325 | 5308 | PITX2 | umls:C0752123 | BeFree | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 0.000271442 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | 20603325 | 6511 | SLC1A6 | umls:C0752123 | BeFree | These data provide evidence for a dominant-negative effect of an SCA5 mutation and show for the first time that trafficking of both beta-III spectrin and EAAT4 from the Golgi is disrupted through failure of the L253P mutation to interact with Arp1. | 0.001085767 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | 20603325 | 10139 | ARFRP1 | umls:C0752123 | BeFree | Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. | 0.000271442 | 2010 | SPTBN2 | 11 | 66713645 | A | G |
| rs121918306 | NA | 6712 | SPTBN2 | umls:C0752123 | CLINVAR | NA | 0.442442977 | NA | SPTBN2 | 11 | 66713645 | A | G |
| rs397514749 | NA | 6712 | SPTBN2 | umls:C0752123 | CLINVAR | NA | 0.442442977 | NA | SPTBN2 | 11 | 66707731 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:0) |
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| (Waiting for update.) |
Mapped by homologous gene(Total Items:0) |
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| (Waiting for update.) |
| Disease ID | 1759 |
|---|---|
| Disease | spinocerebellar ataxia 5 |
| Case | (Waiting for update.) |