eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| metachondromatosis | ||||
| Disease ID | 688 |
|---|---|
| Disease | metachondromatosis |
| Definition | Metachondromatosis is an autosomal dominant[1]incompletely penetrant[2] skeletal disorder affecting the growth of bones, leading to multiple enchondromas and osteochondromas.[2] This tumor syndrome affects mainly tubular bones, though it can also involve the vertebrae, small joints, and flat bones.[3] - Wikipedia Reference: https://en.wikipedia.org/wiki/metachondromatosis |
| Synonym | metachondromatosis (disorder) metcds |
| Orphanet | |
| OMIM | |
| UMLS | C0410530 |
| SNOMED-CT | |
| 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) PTPN11 | 12q24.13 |
| Disease ID | 688 |
|---|---|
| Disease | metachondromatosis |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:4) HP:0005701 | Multiple enchondromatosis HP:0001367 | Anomaly of the joints HP:0005655 | Multiple digital exostoses HP:0006487 | Camptomelia |
| Text Mined Phenotype | (Waiting for update.) |
| Disease ID | 688 |
|---|---|
| Disease | metachondromatosis |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C1442965 | avascular necrosis of the capital femoral epiphysis |
| 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:9) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs267606989 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112453274 | C | T |
| rs387907157 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112489092 | C | T |
| rs387907158 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112450475 | A | T |
| rs397516807 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112455968 | A | - |
| rs398122857 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112453271 | GTACG | - |
| rs398122859 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112453215 | CT | - |
| rs398122860 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112486565 | C | - |
| rs398122861 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112455948 | A | C |
| rs398122862 | NA | 5781 | PTPN11 | umls:C0410530 | CLINVAR | NA | 0.361085767 | NA | PTPN11 | 12 | 112482073 | G | T |
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:0006487 | Bowing of the long bones | MP:0013621 | decreased internal diameter of femur | reduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur |
| HP:0001367 | Abnormal joint morphology | MP:0002932 | abnormal joint morphology | any structural anomaly of the moveable articulation point of two or more bones |
Mapped by homologous gene(Total Items:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0006487 | Bowing of the long bones | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005701 | Multiple enchondromatosis | MP:0013774 | decreased KLRG1-positive T-helper cell number | reduction in the number of CD4-positive alpha-beta T-helper cells expressing KLRG1, a marker associated with activation |
| HP:0005655 | Multiple digital exostoses | MP:0013243 | abnormal carbohydrate metabolism | any anomaly in the chemical reactions and pathways involving a carbohydrate, including metabolic, catabolic and biosynthetic processes |
| HP:0001367 | Abnormal joint morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| Disease ID | 688 |
|---|---|
| Disease | metachondromatosis |
| Case | (Waiting for update.) |