eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| bothnia retinal dystrophy | ||||
| Disease ID | 1670 |
|---|---|
| Disease | bothnia retinal dystrophy |
| Definition | Caused by mutation in the gene encoding retinaldehyde-binding protein-1. A high frequency of a distinctive form of retinal dystrophy was found to occur in northern Sweden. Typical manifestations are night blindness from early childhood and in young adults retinitis punctata albescens was observed followed by macular degeneration. |
| Synonym | bothnia retinal dystrophy (disorder) vasterbotten dystrophy |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C1843816 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) RLBP1 | 15q26.1 |
| Disease ID | 1670 |
|---|---|
| Disease | bothnia retinal dystrophy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0000662 | Poor night vision HP:0000556 | Retinal dystrophy HP:0000608 | Macular degeneration HP:0000512 | ERG abnormal |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1670 |
|---|---|
| Disease | bothnia retinal dystrophy |
| 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:3) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs28933990 | NA | 6017 | RLBP1 | umls:C1843816 | CLINVAR | NA | 0.56 | NA | RLBP1 | 15 | 89210794 | G | A |
| rs28933990 | 10102298 | 6017 | RLBP1 | umls:C1843816 | UNIPROT | Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. | 0.56 | 1999 | RLBP1 | 15 | 89210794 | G | A |
| rs786205626 | NA | 6017 | RLBP1 | umls:C1843816 | CLINVAR | NA | 0.56 | NA | RLBP1 | 15 | 89217169 | GAAGCGCAGGAA | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000608 | Macular degeneration | MP:0008584 | photoreceptor outer segment degeneration | retrogressive pathologic change in the photoreceptor region that is rich in the visual pigment rhodopsin |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000556 | Retinal dystrophy | MP:0020216 | decreased circulating complement protein level | less than normal levels of the serum proteins that act sequentially to allow for the direct killing of microbes, the disposal of immune complexes, and the regulation of other immune processes |
| HP:0000608 | Macular degeneration | MP:0020039 | increased bone ossification | increase in the formation of bone or of a bony substance, or the conversion of fibrous tissue or of cartilage into bone or a bony substance |
| HP:0000512 | Abnormal electroretinogram | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000662 | Nyctalopia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1670 |
|---|---|
| Disease | bothnia retinal dystrophy |
| Case | (Waiting for update.) |