PedAM
Pediatric Disease Annotations & Medicines
| osteoporosis-pseudoglioma syndrome | ||||
| Disease ID | 688 |
|---|---|
| Disease | osteoporosis-pseudoglioma syndrome |
| Synonym | oppg ops osteogenesis imperfecta, ocular form osteoporosis pseudoglioma osteoporosis with pseudoglioma osteoporosis with pseudoglioma (disorder) pseudoglioma with bone fragility |
| OMIM | |
| UMLS | C0432252 |
| SNOMED-CT | |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:31) 6422 | SFRP1 | DISEASES 23554 | TSPAN12 | DISEASES 1277 | COL1A1 | DISEASES 7166 | TPH1 | DISEASES 4040 | LRP6 | DISEASES 4811 | NID1 | DISEASES 1950 | EGF | DISEASES 10312 | TCIRG1 | DISEASES 89780 | WNT3A | DISEASES 2264 | FGFR4 | DISEASES 7471 | WNT1 | DISEASES 4041 | LRP5 | DISEASES 9965 | FGF19 | DISEASES 1278 | COL1A2 | DISEASES 7480 | WNT10B | DISEASES 50964 | SOST | DISEASES 8313 | AXIN2 | DISEASES 7804 | LRP8 | DISEASES 9241 | NOG | DISEASES 2248 | FGF3 | DISEASES 1499 | CTNNB1 | DISEASES 3351 | HTR1B | DISEASES 22943 | DKK1 | DISEASES 4693 | NDP | DISEASES 650 | BMP2 | DISEASES 5080 | PAX6 | DISEASES 117581 | TWIST2 | DISEASES 8322 | FZD4 | DISEASES 7421 | VDR | DISEASES 3949 | LDLR | DISEASES 388588 | SMIM1 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) LRP5 | 11q13.2 |
| Disease ID | 688 |
|---|---|
| Disease | osteoporosis-pseudoglioma syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0000667 | Phthisis bulbi HP:0008037 | Absent anterior eye chamber HP:0001629 | Ventricular septal defects HP:0000939 | Osteoporosis HP:0000926 | Flattened vertebral bodies HP:0001256 | Mild mental retardation HP:0004322 | Stature below 3rd percentile HP:0001252 | Hypotonia HP:0001552 | Barrel chest HP:0002659 | Increased tendency to fractures HP:0001089 | Iris atrophy HP:0000618 | Blindness HP:0000568 | Abnormally small globe of eye HP:0007773 | Vitreoretinopathy HP:0002751 | Kyphoscoliosis HP:0009733 | Glioma HP:0000252 | Small head circumference HP:0000518 | Cataract HP:0002756 | Pathologic fracture HP:0001382 | Hyperextensible joints HP:0003016 | Wide metaphyses |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 688 |
|---|---|
| Disease | osteoporosis-pseudoglioma syndrome |
| Manually Symptom | (Waiting for update.) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Text Mining Genotypes:0) |
|---|
| (Waiting for update.) |
All Snps(Total Genotypes:14) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121908660 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68312743 | G | A |
| rs121908661 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68386582 | C | T |
| rs121908662 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68409973 | - | T |
| rs121908663 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68413742 | C | T |
| rs121908664 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68389949 | G | A |
| rs121908665 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68403606 | C | T |
| rs121908666 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68389921 | G | T |
| rs121908667 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68410024 | G | A |
| rs149645175 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68448822 | C | G,T |
| rs397514663 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68403553 | C | T |
| rs397514664 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68386445 | C | T |
| rs397514665 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68363791 | C | T |
| rs4988321 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68406721 | G | A,C |
| rs80358305 | NA | 4041 | LRP5 | umls:C0432252 | CLINVAR | NA | 0.564614512 | NA | LRP5 | 11 | 68348188 | 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:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | MP:0000662 | abnormal branching of the mammary ductal tree;HP:0004349 | Reduced bone mineral density |
Mapped by homologous gene(Total Items:1) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0008056 | Aplasia/Hypoplasia affecting the eye | MP:0003257 | abnormal abdominal wall morphology;HP:0100543 | Cognitive impairment |
Chemical(Total Drugs:1) | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| CUI | ChemicalName | ChemicalID | CasRN | DiseaseName | DiseaseID | DirectEvidence | PubMedIDs | ||
| C0432252 | pamidronate | C019248 | 40391-99-9 | osteoporosis-pseudoglioma syndrome | MESH:C536063 | therapeutic | 18825883 | ||
FDA approved drug and dosage information(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |
FDA labeling changes(Total Drugs:0) | |
|---|---|
| (Waiting for update.) | |