eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| hereditary multiple exostoses | ||||
| Disease ID | 575 |
|---|---|
| Disease | hereditary multiple exostoses |
| Definition | Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation. |
| Synonym | aclases, diaphyseal aclasis, diaphyseal bessel-hagen disease cartilaginous exostoses, multiple cartilaginous exostosis, multiple chondrodysplasia, hereditary deforming chondrodysplasias, hereditary deforming congenital exostosis (& [multiple]) congenital exostosis (& [multiple]) (disorder) deforming chondrodysplasia, hereditary deforming chondrodysplasias, hereditary diaphyseal aclases diaphyseal aclasia diaphyseal aclasis diaphyseal aclasis, external chondromatosis syndrome dyschondroplasia, hereditary deforming exostoses, familial exostoses, hereditary multiple exostoses, multiple exostoses, multiple cartilaginous exostoses, multiple hereditary exostoses, multiple hereditary [disease/finding] exostoses, multiple, type i exostosis, familial exostosis, hereditary multiple exostosis, multiple exostosis, multiple cartilaginous ext ext1 familial exostoses familial exostosis hereditary deforming chondrodysplasia hereditary deforming chondrodysplasias hereditary exostoses, multiple hereditary exostosis multiple hereditary multiple exostosis multiple cartilaginous exostoses multiple cartilaginous exostosis multiple congenital exostosis multiple congenital exostosis (disorder) multiple exostoses multiple exostoses syndrome multiple exostoses syndrome (disorder) multiple exostoses type i multiple exostoses, hereditary multiple exostosis multiple exostosis syndrome multiple exostosis syndromes multiple exostosis, hereditary multiple hereditary exostoses multiple hereditary exostosis multiple osteochondroma multiple osteochondromas multiple osteochondromatosis osteochondroma, multiple osteochondromas, multiple osteochondromatosis syndrome osteochondromatosis syndrome (disorder) osteochondromatosis syndrome (disorder) [ambiguous] osteochondromatosis, multiple osteochondromatosis, ollier |
| Orphanet | |
| OMIM | |
| DOID | |
| UMLS | C0015306 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:7) C0029423 | osteochondroma | 5 C0008479 | chondrosarcomas | 3 C0008479 | chondrosarcoma | 2 C0037928 | myelopathy | 2 C0376685 | subacromial impingement syndrome | 1 C0036439 | scoliosis | 1 C0029423 | osteochondromas | 1 |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:3) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:18) 1645 | AKR1C1 | 1.316 | DISEASES 650 | BMP2 | 1.723 | DISEASES 55636 | CHD7 | 1.27 | DISEASES 2131 | EXT1 | 8 | DISEASES 2132 | EXT2 | 7.924 | DISEASES 2134 | EXTL1 | 5.484 | DISEASES 2135 | EXTL2 | 6.167 | DISEASES 2242 | FES | 1.787 | DISEASES 2254 | FGF9 | 1.827 | DISEASES 3339 | HSPG2 | 1.765 | DISEASES 4602 | MYB | 1.121 | DISEASES 390874 | ONECUT3 | 2.388 | DISEASES 5745 | PTH1R | 2.251 | DISEASES 5744 | PTHLH | 1.223 | DISEASES 6035 | RNASE1 | 2.204 | DISEASES 9672 | SDC3 | 2.382 | DISEASES 7187 | TRAF3 | 1.563 | DISEASES 7481 | WNT11 | 1.987 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 575 |
|---|---|
| Disease | hereditary multiple exostoses |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:13) HP:0003068 | Madelung-like forearm deformities HP:0003276 | Pelvic bone exostoses HP:0010049 | Metacarpal hypoplasia HP:0002318 | Cervical myelopathy HP:0004322 | Stature below 3rd percentile HP:0002812 | Coxa vara HP:0000896 | Rib exostoses HP:0001760 | Foot deformities HP:0003406 | Peripheral nerve compression HP:0006765 | Chondrosarcoma HP:0000918 | Scapular exostoses HP:0003105 | Protuberances at ends of long bones HP:0002857 | Genu valgum |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:15) HP:0030431 | Osteochondromas | 6 HP:0100777 | Exostoses | 4 HP:0006765 | Chondrosarcoma | 3 HP:0002857 | Genu valgum | 2 HP:0002318 | Cervical myelopathy | 2 HP:0002664 | Neoplasia | 2 HP:0002176 | Spinal cord compression | 2 HP:0002196 | Myelopathy | 2 HP:0012531 | Pain | 1 HP:0003083 | Dislocated radius | 1 HP:0002341 | Cervical cord compression | 1 HP:0002650 | Scoliosis | 1 HP:0012151 | Hemothorax | 1 HP:0100033 | Tic disorder | 1 HP:0002762 | Multiple exostoses | 1 |
| Disease ID | 575 |
|---|---|
| Disease | hereditary multiple exostoses |
| 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:8) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs119103287 | NA | 2131 | EXT1 | umls:C0015306 | CLINVAR | NA | 0.497926365 | NA | EXT1 | 8 | 117837145 | C | T,A |
| rs119103288 | NA | 2131 | EXT1 | umls:C0015306 | CLINVAR | NA | 0.497926365 | NA | EXT1 | 8 | 117837148 | C | T |
| rs119103289 | NA | 2131 | EXT1 | umls:C0015306 | CLINVAR | NA | 0.497926365 | NA | EXT1 | 8 | 118110690 | G | T |
| rs119103290 | NA | 2131 | EXT1 | umls:C0015306 | CLINVAR | NA | 0.497926365 | NA | EXT1 | 8 | 117837146 | G | A |
| rs119103290 | 10679296 | 2132 | EXT2 | umls:C0015306 | BeFree | Biochemical analyses indicate that EXT1 and EXT2 can associate and form homo/hetero-oligomers in vivo with or without HME-linked mutations, EXT1 (R340C) and EXT2 (D227N), when exogenously expressed in COS-7 cells. | 0.16198119 | 2000 | EXT1 | 8 | 117837146 | G | A |
| rs121918280 | 10679296 | 2132 | EXT2 | umls:C0015306 | BeFree | Biochemical analyses indicate that EXT1 and EXT2 can associate and form homo/hetero-oligomers in vivo with or without HME-linked mutations, EXT1 (R340C) and EXT2 (D227N), when exogenously expressed in COS-7 cells. | 0.16198119 | 2000 | EXT2 | 11 | 44114237 | G | A |
| rs188859975 | 10480354 | 2131 | EXT1 | umls:C0015306 | UNIPROT | Our study of 36 EXT Chinese families has found that EXT1 seems much less common in the Chinese population, although the frequency of the EXT2 mutation is similar in the Caucasian and Chinese populations. | 0.497926365 | 1999 | EXT1 | 8 | 117819755 | G | A |
| rs7903146 | 25498973 | 6934 | TCF7L2 | umls:C0015306 | BeFree | The type 2 diabetes associated rs7903146 T allele within TCF7L2 is significantly under-represented in Hereditary Multiple Exostoses: insights into pathogenesis. | 0.000271442 | 2014 | TCF7L2 | 10 | 112998590 | 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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003105 | Protuberances at ends of long bones | MP:0001693 | failure of primitive streak formation | inability to form the epiblast ridge from which arises the germ layers of the embryo |
| HP:0010049 | Short metacarpal | MP:0004634 | short metacarpal bones | reduced length of the five bones of the forepaws that articulate proximally with the carpal bones and distally with the phalanges |
| HP:0003276 | Pelvic bone exostoses | MP:0008271 | abnormal bone ossification | any anomaly 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:0001760 | Abnormality of the foot | MP:0011665 | d-loop transposition of the great arteries | complete transposition of the great arteries; the d- refers to the dextroposition of the bulboventricular loop (ie, the position of the right ventricle, which is on the right side); in addition, the aorta also tends to be on the right and anterior, and th |
Mapped by homologous gene(Total Items:13) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002318 | Cervical myelopathy | MP:0014164 | abnormal ciliary process morphology | any structural anomaly of any of the pigmented processes that radiate from the ciliary muscle and give attachments to ligaments supporting the lens of the eye; these processes increase in thickness as they advance from the orbiculus ciliaris to the exter |
| HP:0006765 | Chondrosarcoma | 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:0002812 | Coxa vara | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000896 | Rib exostoses | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| HP:0001760 | Abnormality of the foot | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000918 | Scapular exostoses | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| HP:0003105 | Protuberances at ends of long bones | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| HP:0002857 | Genu valgum | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0010049 | Short metacarpal | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003406 | Peripheral nerve compression | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| HP:0003276 | Pelvic bone exostoses | MP:0014178 | increased brain apoptosis | increase in the number of cells of the brain undergoing programmed cell death |
| 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:0003068 | Madelung-like forearm deformities | MP:0012760 | decreased cranial neural crest cell proliferation | reduced ability of the cranial neural crest cells (NCCs) to undergo rapid expansion by cell division |
| Disease ID | 575 |
|---|---|
| Disease | hereditary multiple exostoses |
| Case | (Waiting for update.) |