eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| spinocerebellar ataxia 6 | ||||
| Disease ID | 1757 |
|---|---|
| Disease | spinocerebellar ataxia 6 |
| Definition | Main features described as late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus. The mean age of onset is 45 years but can range from the ages of 16 to 72 years. It usually presents with the cerebellar signs of ataxia and dysarthria as well as dysphagia. Some patients also have episodic vertigo and diplopia. Parkinsonism, dystonia, myoclonus, tremor and cognitive impairment have been reported in rare cases. |
| Synonym | ataxia 6, spinocerebellar ataxia 6s, spinocerebellar sca6 spinocerebellar ataxia 6s spinocerebellar ataxia type 006 spinocerebellar ataxia type 6 spinocerebellar ataxia type 6 (disorder) spinocerebellar ataxia-6 type 6 spinocerebellar ataxia |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0752124 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 2334 | AFF2 | 1.669 | DISEASES 1822 | ATN1 | 1.676 | DISEASES 477 | ATP1A2 | 1.72 | DISEASES 488 | ATP2A2 | 1.265 | DISEASES 6311 | ATXN2 | 1.665 | DISEASES 4287 | ATXN3 | 4.134 | DISEASES 6314 | ATXN7 | 3.16 | DISEASES 78996 | C7orf49 | 1.338 | DISEASES 773 | CACNA1A | 8.128 | DISEASES 778 | CACNA1F | 1.855 | DISEASES 1798 | DPAGT1 | 1.67 | DISEASES 1974 | EIF4A2 | 2.298 | DISEASES 8672 | EIF4G3 | 3.79 | DISEASES 3297 | HSF1 | 2.149 | DISEASES 3303 | HSPA1A | 1.121 | DISEASES 3736 | KCNA1 | 1.74 | DISEASES 25894 | PLEKHG4 | 2.399 | DISEASES 5521 | PPP2R2B | 2.117 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1757 |
|---|---|
| Disease | spinocerebellar ataxia 6 |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0001300 | Parkinsonism | 3 HP:0001251 | Ataxia | 2 HP:0002180 | Neurodegeneration | 1 HP:0002073 | Cerebellar ataxia, progressive | 1 HP:0002725 | Systemic lupus erythematosus | 1 HP:0001310 | Dysmetria | 1 |
| Disease ID | 1757 |
|---|---|
| Disease | spinocerebellar ataxia 6 |
| 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908215 | 14718690 | 773 | CACNA1A | umls:C0752124 | UNIPROT | Clinical spectrum of episodic ataxia type 2. | 0.4551248 | 2004 | CACNA1A | 19 | 13359707 | C | T |
| rs121908215 | NA | 773 | CACNA1A | umls:C0752124 | CLINVAR | NA | 0.4551248 | NA | CACNA1A | 19 | 13359707 | C | T |
| rs121908217 | NA | 773 | CACNA1A | umls:C0752124 | CLINVAR | NA | 0.4551248 | NA | CACNA1A | 19 | 13308452 | C | T |
| rs1219082456Spinocerebellar | 20682717 | 773 | CACNA1A | umls:C0752124 | UNIPROT | To describe a three generations family in which a spectrum of different phenotypes, ranging from SCA6 (proband), to EA2 (proband's mother) to FHM1 (proband's mother and proband's aunt) was found. | 0.4551248 | 2015 | NA | NA | NA | NA | NA |
| rs121908247 | 16325861 | 773 | CACNA1A | umls:C0752124 | UNIPROT | Mutations in the brain-specific P/Q type Ca2+ channel alpha1 subunit gene, CACNA1A, have been identified in three clinically distinct disorders, spinocerebellar ataxia type 6 (SCA6), episodic ataxia type 2 (EA2), and familial hemiplegic migraine type 1 (FHM1). | 0.4551248 | 2006 | CACNA1A | 19 | 13235693 | C | T |
| rs121908247 | NA | 773 | CACNA1A | umls:C0752124 | CLINVAR | NA | 0.4551248 | NA | CACNA1A | 19 | 13235693 | C | T |
| rs121909326 | NA | 773 | CACNA1A | umls:C0752124 | CLINVAR | NA | 0.4551248 | NA | CACNA1A | 19 | 13235219 | A | G |
| rs193922932 | NA | 773 | CACNA1A | umls:C0752124 | CLINVAR | NA | 0.4551248 | NA | NA | NA | NA | NA | NA |
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) |
|---|
| (Waiting for update.) |
| Disease ID | 1757 |
|---|---|
| Disease | spinocerebellar ataxia 6 |
| Case | (Waiting for update.) |