eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| infantile onset spinocerebellar ataxia | ||||
| Disease ID | 1461 |
|---|---|
| Disease | infantile onset spinocerebellar ataxia |
| Synonym | infantile-onset spinocerebellar ataxia iosca mitochondrial dna depletion syndrome 7 (hepatocerebral type) mtdps7 ohaha syndrome ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis ophthalmoplegia, hypotonia, ataxia, hypoacusis, and athetosis sca8, formerly spinocerebellar ataxia 8, formerly spinocerebellar ataxia infantile with sensory neuropathy spinocerebellar ataxia, infantile, with sensory neuropathy spinocerebellar ataxia, infantile-onset |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1849096 |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 88 | ACTN2 | 3.38 | DISEASES 54840 | APTX | 2.75 | DISEASES 85300 | ATCAY | 3.771 | DISEASES 6311 | ATXN2 | 2.467 | DISEASES 1586 | CYP17A1 | 1.598 | DISEASES 1756 | DMD | 1.136 | DISEASES 2395 | FXN | 2.605 | DISEASES 3309 | HSPA5 | 1.222 | DISEASES 9118 | INA | 3.23 | DISEASES 11155 | LDB3 | 2.267 | DISEASES 5076 | PAX2 | 1.971 | DISEASES 26278 | SACS | 3.573 | DISEASES 6303 | SAT1 | 2.529 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) TWNK | 10q24.31 |
| Disease ID | 1461 |
|---|---|
| Disease | infantile onset spinocerebellar ataxia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:7) HP:0001251 | Ataxia HP:0100022 | Abnormality of movement HP:0000365 | Hearing impairment HP:0000648 | Optic atrophy HP:0001315 | Reduced tendon reflexes HP:0002270 | Abnormality of the autonomic nervous system HP:0000602 | Ophthalmoplegia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 1461 |
|---|---|
| Disease | infantile onset spinocerebellar ataxia |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs386834145 | NA | 56652 | C10orf2 | umls:C1849096 | CLINVAR | NA | 0.361628651 | NA | C10orf2 | 10 | 100989766 | C | G |
| rs386834145 | 22353293 | 56652 | C10orf2 | umls:C1849096 | BeFree | A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands. | 0.361628651 | 2012 | C10orf2 | 10 | 100989766 | C | G |
| rs386834146 | NA | 56652 | C10orf2 | umls:C1849096 | CLINVAR | NA | 0.361628651 | NA | C10orf2 | 10 | 100989787 | C | T |
| rs386834147 | NA | 56652 | C10orf2 | umls:C1849096 | CLINVAR | NA | 0.361628651 | NA | C10orf2;MRPL43 | 10 | 100988457 | C | T |
| rs80356540 | NA | 56652 | C10orf2 | umls:C1849096 | CLINVAR | NA | 0.361628651 | NA | C10orf2 | 10 | 100990474 | A | G |
| rs80356540 | 18775955 | 56652 | C10orf2 | umls:C1849096 | BeFree | Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder caused by the recessive mutation in PEO1, leading to an Y508C change in the mitochondrial helicase Twinkle, in its helicase domain. | 0.361628651 | 2008 | C10orf2 | 10 | 100990474 | A | G |
| rs80356541 | NA | 56652 | C10orf2 | umls:C1849096 | CLINVAR | NA | 0.361628651 | NA | C10orf2 | 10 | 100989687 | C | T |
| rs80356542 | NA | 56652 | C10orf2 | umls:C1849096 | CLINVAR | NA | 0.361628651 | NA | C10orf2;MRPL43 | 10 | 100989162 | G | A |
| rs80356544 | NA | 56652 | C10orf2 | umls:C1849096 | CLINVAR | NA | 0.361628651 | NA | C10orf2 | 10 | 100989770 | C | T |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100022 | Abnormality of movement | MP:0005223 | abnormal dorsal-ventral polarity of the somites | anomalous development or formation of the pattern of somites along the axis that runs from the front (ventral) to the back (dorsal) surface of the body |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
Mapped by homologous gene(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0100022 | Abnormality of movement | MP:0020316 | decreased vascular endothelial cell proliferation | decrease in the expansion rate of any vascular endothelial cell population by cell division |
| HP:0000602 | Ophthalmoplegia | MP:0013785 | abnormal mammary gland bud morphology | any structural anomaly of the morphologically distinct bulb of epithelial cells formed once each mammary placode expands and invaginates into the underlying mesenchyme; in mouse embryos at E12.5, each epithelial bud with its contiguous mesenchyme is eleva |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001251 | Ataxia | MP:0020301 | short tongue | decreased length of the mobile mass of muscular tissue and surrounding epithelial tissue occupying the cavity of the mouth and forming part of the floor |
| HP:0000648 | Optic atrophy | MP:3000003 | abnormal Ebner's gland morphology | any structural anomaly of the serous salivary glands which reside adjacent to the moats surrounding the circumvallate and foliate papillae just anterior to the posterior third of the tongue, anterior to the terminal sulcus; these exocrine glands secrete l |
| HP:0002270 | Abnormality of the autonomic nervous system | MP:0012144 | decreased b wave amplitude | reduction in the size (height or maximum displacement) of the b wave as measured in the electroretinogram |
| HP:0001315 | Reduced tendon reflexes | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1461 |
|---|---|
| Disease | infantile onset spinocerebellar ataxia |
| Case | (Waiting for update.) |