eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| osteoporosis-pseudoglioma syndrome | ||||
| Disease ID | 1008 |
|---|---|
| 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 | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:1) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:1) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:13) 650 | BMP2 | 1.015 | DISEASES 1499 | CTNNB1 | 3.382 | DISEASES 22943 | DKK1 | 3.146 | DISEASES 2248 | FGF3 | 2.105 | DISEASES 8322 | FZD4 | 3.082 | DISEASES 3351 | HTR1B | 2.537 | DISEASES 3949 | LDLR | 3.177 | DISEASES 4693 | NDP | 2.953 | DISEASES 9241 | NOG | 1.548 | DISEASES 5080 | PAX6 | 1.15 | DISEASES 388588 | SMIM1 | 2.682 | DISEASES 117581 | TWIST2 | 2.361 | DISEASES 7421 | VDR | 1.431 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) LRP5 | 11q13.2 |
| Disease ID | 1008 |
|---|---|
| Disease | osteoporosis-pseudoglioma syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:21) HP:0001252 | Hypotonia HP:0003016 | Wide metaphyses HP:0004322 | Stature below 3rd percentile HP:0002751 | Kyphoscoliosis HP:0000252 | Small head circumference HP:0000618 | Blindness HP:0000518 | Cataract HP:0001382 | Hyperextensible joints HP:0001552 | Barrel chest HP:0002659 | Increased tendency to fractures HP:0000667 | Phthisis bulbi HP:0007773 | Vitreoretinopathy HP:0000939 | Osteoporosis HP:0000568 | Abnormally small globe of eye HP:0008037 | Absent anterior eye chamber HP:0002756 | Pathologic fracture HP:0001256 | Mild mental retardation HP:0009733 | Glioma HP:0001629 | Ventricular septal defects HP:0000926 | Flattened vertebral bodies HP:0001089 | Iris atrophy |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1008 |
|---|---|
| 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.) |
Text Mining Genotype(Total 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:5) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002659 | Increased susceptibility to fractures | MP:0009788 | increased susceptibility to bacterial infection induced morbidity/mortality | increased likelihood that an organism will display the expected moribund state caused by a bacterial invasion or from components of or toxins produced by bacteria |
| HP:0001629 | Ventricular septal defect | MP:0011667 | double outlet right ventricle with atrioventricular septal defect | a form of DORV in which there is also a complete atrioventricular canal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0008037 | Absent anterior eye chamber | MP:0001286 | abnormal eye development | malformation or arrest of differentiation of the visual organ |
| HP:0001552 | Barrel-shaped chest | MP:0004134 | abnormal chest morphology | any structural anomaly of the part of the body between the neck and the abdomen |
Mapped by homologous gene(Total Items:21) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0000618 | Blindness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002756 | Pathologic fracture | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001256 | Intellectual disability, mild | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0002659 | Increased susceptibility to fractures | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0007773 | Vitreoretinopathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002751 | Kyphoscoliosis | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000568 | Microphthalmia | 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:0000518 | Cataract | 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:0000667 | Phthisis bulbi | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001629 | Ventricular septal defect | 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:0000926 | Platyspondyly | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001552 | Barrel-shaped chest | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0008037 | Absent anterior eye chamber | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000939 | Osteoporosis | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001382 | Joint hypermobility | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0009733 | Glioma | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000252 | Microcephaly | 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:0004322 | Short stature | 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:0001089 | Iris atrophy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003016 | Metaphyseal widening | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1008 |
|---|---|
| Disease | osteoporosis-pseudoglioma syndrome |
| Case | (Waiting for update.) |