eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| cataract 7 | ||||
| Disease ID | 1766 |
|---|---|
| Disease | cataract 7 |
| Definition | Cerulean cataracts are a kind of congenital cataract having peripheral bluish and white opacifications in concentric layers with occasional central lesions arranged radially. Although the opacities may be observed during fetal development and childhood, usually visual acuity is only mildly reduced until adulthood, when lens extraction is generally necessary. [HPO:probinson, pmid:19496508, pmid:9158139] |
| Synonym | cataract 7, cerulean type cataract, congenital cerulean cataract, congenital, blue dot type 1 cataract, congenital, blue dot type, 1 cataract, congenital, cerulean cataract, congenital, cerulean type 1 cataract, congenital, cerulean type, 1 cataracts, congenital, cerulean cca1 cerulean cataract congenital blue dot cataract congenital blue dot cataract (disorder) ctrct7 |
| Orphanet | |
| OMIM | |
| UMLS | C0344523 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:5) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:41) 84890 | ADO | 2.034 | DISEASES 125061 | AFMID | 3.799 | DISEASES 408 | ARRB1 | 2.176 | DISEASES 92714 | ARRDC1 | 4.785 | DISEASES 285782 | CAGE1 | 1.753 | DISEASES 859 | CAV3 | 2.044 | DISEASES 875 | CBS | 1.275 | DISEASES 1312 | COMT | 1.046 | DISEASES 1408 | CRY2 | 2.429 | DISEASES 1660 | DHX9 | 2.234 | DISEASES 1999 | ELF3 | 3.451 | DISEASES 2152 | F3 | 1.248 | DISEASES 2313 | FLI1 | 2.937 | DISEASES 10013 | HDAC6 | 1.761 | DISEASES 3909 | LAMA3 | 2.221 | DISEASES 25804 | LSM4 | 3.967 | DISEASES 22823 | MTF2 | 3.642 | DISEASES 4881 | NPR1 | 2.506 | DISEASES 26740 | OR1J2 | 4.642 | DISEASES 441669 | OR4Q3 | 4.663 | DISEASES 81050 | OR5AC2 | 4.72 | DISEASES 341416 | OR6C2 | 4.456 | DISEASES 254786 | OR6C3 | 4.909 | DISEASES 26147 | PHF19 | 3.779 | DISEASES 8541 | PPFIA3 | 3.776 | DISEASES 5554 | PRH1 | 3.515 | DISEASES 5555 | PRH2 | 3.515 | DISEASES 55615 | PRR5 | 4.088 | DISEASES 80758 | PRR7 | 4.368 | DISEASES 574414 | PRR9 | 4.664 | DISEASES 2185 | PTK2B | 2.019 | DISEASES 6023 | RMRP | 2.735 | DISEASES 6295 | SAG | 1.93 | DISEASES 404552 | SCGB1D4 | 2.244 | DISEASES 6446 | SGK1 | 1.903 | DISEASES 10019 | SH2B3 | 2.367 | DISEASES 6949 | TCOF1 | 1.477 | DISEASES 54802 | TRIT1 | 3.418 | DISEASES 55621 | TRMT1 | 3.848 | DISEASES 7306 | TYRP1 | 3.341 | DISEASES 8408 | ULK1 | 2.095 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1766 |
|---|---|
| Disease | cataract 7 |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:2) |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 1766 |
|---|---|
| Disease | cataract 7 |
| 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:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121917735 | 25064449 | 4094 | MAF | umls:C0344523 | BeFree | MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome). | 0.120542884 | 2014 | MAF;LOC101928230 | 16 | 79599040 | C | T,G |
| rs121917736 | 25064449 | 4094 | MAF | umls:C0344523 | BeFree | MAF expression constructs were constructed with the wildtype MAF sequence and with each of the three known mutations, i.e., R288P (associated with pulverulent cataract), K297R (associated with cerulean cataract), and R299S (associated with the most severe phenotype, congenital cataract, and microcornea syndrome). | 0.120542884 | 2014 | MAF;LOC101928230 | 16 | 79599013 | T | C |
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:0000519 | Congenital cataract | MP:0001304 | cataract | complete or partial opacity of the lens |
| HP:0000572 | Visual loss | MP:0011352 | proximal convoluted tubule brush border loss | attenuation or degeneration of the microvillus brush border normally present on the luminal surface of epithelial cells of the proximal convoluted tubule; may be associated with renal tubular injury and/or cystic changes |
Mapped by homologous gene(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000519 | Congenital cataract | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000572 | Visual loss | MP:0020194 | abnormal glycosphingolipid level | any anomaly in the concentrations of glycosphingolipids, a subtype of glycolipids containing the amino alcohol sphingosine, in the body |
| Disease ID | 1766 |
|---|---|
| Disease | cataract 7 |
| Case | (Waiting for update.) |