eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| sclerosteosis | ||||
| Disease ID | 247 |
|---|---|
| Disease | sclerosteosis |
| Definition | A hyperostosis characterized by excessive bone formation most prominent in the skull, mandible, clavicle, ribs and diaphyses of long bones; bone formation occurs throughout life. [url:http://en.wikipedia.org/wiki/Sclerostin#Clinical_significance, url:http://www.ncbi.nlm.nih.gov/pubmed/11836356] - NORD Reference: NORD |
| Synonym | cortical hyperostosis with syndactyly sclerosteosis (disorder) sclerosteosis 1 sost sost1 |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0265301 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:2) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:25) 375790 | AGRN | 1.57 | DISEASES 632 | BGLAP | 1.858 | DISEASES 655 | BMP7 | 1.019 | DISEASES 1186 | CLCN7 | 1.964 | DISEASES 1499 | CTNNB1 | 3.131 | DISEASES 22943 | DKK1 | 2.499 | DISEASES 285489 | DOK7 | 2.119 | DISEASES 1798 | DPAGT1 | 1.602 | DISEASES 1806 | DPYD | 1.208 | DISEASES 2246 | FGF1 | 1.045 | DISEASES 2253 | FGF8 | 1.609 | DISEASES 2737 | GLI3 | 1.071 | DISEASES 2932 | GSK3B | 1.604 | DISEASES 3840 | KPNA4 | 2.89 | DISEASES 3949 | LDLR | 2.541 | DISEASES 4017 | LOXL2 | 1.817 | DISEASES 4038 | LRP4 | 2.293 | DISEASES 4205 | MEF2A | 3.453 | DISEASES 4208 | MEF2C | 2.592 | DISEASES 4222 | MEOX1 | 3.386 | DISEASES 4593 | MUSK | 1.195 | DISEASES 9241 | NOG | 3.152 | DISEASES 5745 | PTH1R | 1.401 | DISEASES 860 | RUNX2 | 2.099 | DISEASES 7477 | WNT7B | 2.369 | DISEASES |
| Locus | Symbol | Locus(Total Locus:2) |
| Disease ID | 247 |
|---|---|
| Disease | sclerosteosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:14) HP:0000098 | Tall stature HP:0006101 | Finger syndactyly HP:0011001 | Increased bone mineral density HP:0003103 | Abnormal cortical bone morphology HP:0100798 | Fingernail dysplasia HP:0005019 | Diaphyseal thickening HP:0004493 | Craniofacial hyperostosis HP:0010628 | Facial palsy HP:0000648 | Optic atrophy HP:0009838 | Curved distal phalanges of the hand HP:0000407 | Sensorineural hearing impairment HP:0000366 | Abnormality of the nose HP:0000508 | Ptosis HP:0001233 | 2-3 finger syndactyly |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:5) HP:0011002 | Osteopetrosis | 1 HP:0001159 | Webbed fingers or toes | 1 HP:0000572 | Visual loss | 1 HP:0000529 | Slowly progressive visual loss | 1 HP:0012531 | Pain | 1 |
| Disease ID | 247 |
|---|---|
| Disease | sclerosteosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| 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 |
| rs104894644 | NA | 50964 | SOST | umls:C0265301 | CLINVAR | NA | 0.563800186 | NA | SOST | 17 | 43755612 | C | T |
| rs104894645 | NA | 50964 | SOST | umls:C0265301 | CLINVAR | NA | 0.563800186 | NA | SOST | 17 | 43755608 | G | A |
| rs387906320 | NA | 50964 | SOST | umls:C0265301 | CLINVAR | NA | 0.563800186 | NA | SOST | 17 | 43758672 | G | A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:7) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001233 | 2-3 finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0000366 | Abnormality of the nose | MP:0012069 | abnormal horizontal basal cell of olfactory epithelium morphology | any structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas |
| HP:0003103 | Abnormal cortical bone morphology | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0000407 | Sensorineural hearing impairment | MP:0006330 | syndromic hearing impairment | hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms |
| HP:0000648 | Optic atrophy | MP:0012506 | brain atrophy | acquired diminution of the size of the brain associated with wasting as from death and reabsorbtion of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal chan |
| HP:0006101 | Finger syndactyly | MP:0000564 | syndactyly | any degree of webbing or fusion of the digits, may involve only soft tissues or also can include bone |
| HP:0011001 | Increased bone mineral density | MP:0013630 | increased bone trabecular spacing | increase in the amount of space between trabeculae in cancellous bone |
Mapped by homologous gene(Total Items:12) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000407 | Sensorineural hearing impairment | 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:0000366 | Abnormality of the nose | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005019 | Diaphyseal thickening | MP:0013178 | tail necrosis | morphological changes resulting from pathological death of tail tissue; usually due to irreversible damage |
| HP:0010628 | Facial palsy | MP:0020240 | increased skeletal muscle cell apoptosis | increase in the number of skeletal muscle cells undergoing programmed cell death |
| HP:0000508 | Ptosis | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0004493 | Craniofacial hyperostosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001233 | 2-3 finger syndactyly | 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:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000098 | Tall stature | 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:0003103 | Abnormal cortical bone morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000648 | Optic atrophy | 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:0006101 | Finger syndactyly | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 247 |
|---|---|
| Disease | sclerosteosis |
| Case | (Waiting for update.) |