eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| juvenile retinoschisis | ||||
| Disease ID | 1750 |
|---|---|
| Disease | juvenile retinoschisis |
| Definition | A genetic disorder affecting primarily males. It is caused by mutations of the XLRS1 gene mapped to chromosome Xp22. It affects the cells of the retina, resulting in retinal degeneration and poor eyesight. |
| Synonym | congenital x-linked retinoschisis juvenile retinoschises juvenile retinoschises, x-linked juvenile retinoschisis (disorder) juvenile retinoschisis, x-linked juvenile x-linked retinoschisis juvenile, retinoschisis x-linked juveniles, retinoschisis x-linked retinoschises, juvenile retinoschises, x-linked retinoschises, x-linked juvenile retinoschisis x linked juvenile retinoschisis x-linked juvenile retinoschisis x-linked juveniles retinoschisis, juvenile retinoschisis, juvenile, x chromosome-linked retinoschisis, juvenile, x-linked retinoschisis, x linked retinoschisis, x-linked retinoschisis, x-linked juvenile x linked juvenile retinoschisis x linked retinoschisis x-linked juvenile retinoschises x-linked juvenile retinoschisis x-linked juvenile, retinoschisis x-linked juveniles, retinoschisis x-linked retinoschises x-linked retinoschisis |
| Orphanet | |
| UMLS | C0271091 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:6) C0024441 | macular hole | 3 C0152439 | retinoschisis | 1 C0025362 | mental retardation | 1 C0024441 | macular holes | 1 C0024440 | cystoid macular edema | 1 C0271051 | macular edema | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1750 |
|---|---|
| Disease | juvenile retinoschisis |
| Integrated Phenotype | (Waiting for update.) |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:8) HP:0011508 | Macular hole | 3 HP:0001249 | Mental retardation | 1 HP:0012152 | Retinoschisis involving the fovea | 1 HP:0040049 | Macular edema | 1 HP:0011505 | Cystoid macular edema | 1 HP:0011511 | Macular schisis | 1 HP:0030502 | Retinoschisis | 1 HP:0000969 | Dropsy | 1 |
| Disease ID | 1750 |
|---|---|
| Disease | juvenile retinoschisis |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:6) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs104894935 | NA | 6247 | RS1 | umls:C0271091 | CLINVAR | NA | 0.139120483 | NA | RS1 | X | 18672031 | A | G |
| rs281865354 | 25799783 | 6247 | RS1 | umls:C0271091 | BeFree | X-linked retinoschisis--clinical manifestation, genetic and electrophysiological analysis of three generations with p.Arg197Cys mutation of RS1 gene. | 0.139120483 | 2015 | RS1;CDKL5 | X | 18642090 | G | A |
| rs281865354 | 10079181 | 6247 | RS1 | umls:C0271091 | BeFree | Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. | 0.139120483 | 1999 | RS1;CDKL5 | X | 18642090 | G | A |
| rs281865365 | 10458173 | 6247 | RS1 | umls:C0271091 | BeFree | Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic b-wave. | 0.139120483 | 1999 | RS1;CDKL5 | X | 18642042 | G | A |
| rs61752061 | 10079181 | 6247 | RS1 | umls:C0271091 | BeFree | Recurrent missense (R197C) and nonsense (Y89X) mutations in the XLRS1 gene in families with X-linked retinoschisis. | 0.139120483 | 1999 | RS1;CDKL5 | X | 18647250 | A | T,G |
| rs61753174 | 12457918 | 6247 | RS1 | umls:C0271091 | BeFree | Electroretinographic findings in three family members with X-linked juvenile retinoschisis associated with a novel Pro192Thr mutation of the XLRS1 gene. | 0.139120483 | 2002 | RS1;CDKL5 | X | 18642105 | G | T,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) |
|---|
| (Waiting for update.) |
| Disease ID | 1750 |
|---|---|
| Disease | juvenile retinoschisis |
| Case | (Waiting for update.) |