eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| multiple epiphyseal dysplasia | ||||
| Disease ID | 215 |
|---|---|
| Disease | multiple epiphyseal dysplasia |
| Definition | Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form— in , births) which affects the growing ends of bones Bones usually elongate by a process that involves the depositing of cartilage at the ends of the bones, called ossification This cartilage then mineralizes and hardens to become bone In MED, this process is defective. - NORD Reference: NORD |
| Synonym | dysplasia epiphyseal multiple fairbanks-ribbing type epiphyseal dysplasia med - multiple epiphyseal dysplasia mult epiphyseal dysplas multiple epiphyseal dysplasia (disorder) multiple epiphyseal dysplasia nos multiple epiphyseal dysplasia nos (disorder) |
| Orphanet | |
| DOID | |
| UMLS | C0026760 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:3) |
| Curated Gene | Entrez_id | Symbol | Resource(Total Genes:6) |
| Inferring Gene | Entrez_id | Symbol | Resource(Total Genes:7) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:35) 176 | ACAN | 3.657 | DISEASES 650 | BMP2 | 1.383 | DISEASES 801 | CALM1 | 3.33 | DISEASES 961 | CD47 | 1.092 | DISEASES 55636 | CHD7 | 1.142 | DISEASES 1301 | COL11A1 | 3.385 | DISEASES 1302 | COL11A2 | 3.725 | DISEASES 1280 | COL2A1 | 3.536 | DISEASES 1297 | COL9A1 | 6.082 | DISEASES 1298 | COL9A2 | 6.863 | DISEASES 1299 | COL9A3 | 6.653 | DISEASES 79174 | CRELD2 | 3.555 | DISEASES 1649 | DDIT3 | 1.44 | DISEASES 56940 | DUSP22 | 2.423 | DISEASES 2296 | FOXC1 | 1.288 | DISEASES 2993 | GYPA | 1.041 | DISEASES 219844 | HYLS1 | 1.552 | DISEASES 374654 | KIF7 | 2.486 | DISEASES 54900 | LAX1 | 2.122 | DISEASES 7873 | MANF | 3.238 | DISEASES 4146 | MATN1 | 3.484 | DISEASES 4148 | MATN3 | 6.977 | DISEASES 8785 | MATN4 | 3.381 | DISEASES 9782 | MATR3 | 2.283 | DISEASES 5333 | PLCD1 | 2.504 | DISEASES 7955 | RNF217-AS1 | 1.835 | DISEASES 9672 | SDC3 | 2.254 | DISEASES 1811 | SLC26A3 | 1.378 | DISEASES 6651 | SON | 2.587 | DISEASES 6660 | SOX5 | 1.99 | DISEASES 7058 | THBS2 | 1.414 | DISEASES 7059 | THBS3 | 2.813 | DISEASES 7060 | THBS4 | 2.226 | DISEASES 79228 | THOC6 | 2.904 | DISEASES 51341 | ZBTB7A | 1.903 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 215 |
|---|---|
| Disease | multiple epiphyseal dysplasia |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:27) HP:0004322 | Short stature HP:0000545 | Myopia HP:0001850 | Abnormality of the tarsal bones HP:0003103 | Abnormal cortical bone morphology HP:0005930 | Abnormality of epiphysis morphology HP:0002644 | Abnormality of pelvic girdle bone morphology HP:0008812 | Flattened femoral head HP:0001156 | Brachydactyly syndrome HP:0012368 | Flat face HP:0001798 | Anonychia HP:0002823 | Abnormality of the femur HP:0000407 | Sensorineural hearing impairment HP:0000478 | Abnormality of the eye HP:0003312 | Abnormal form of the vertebral bodies HP:0011840 | Abnormality of T cell physiology HP:0000311 | Round face HP:0200055 | Small hand HP:0001385 | Hip dysplasia HP:0000504 | Abnormality of vision HP:0001191 | Abnormality of the carpal bones HP:0001387 | Joint stiffness HP:0000463 | Anteverted nares HP:0002750 | Delayed skeletal maturation HP:0002997 | Abnormality of the ulna HP:0100670 | Rough bone trabeculation HP:0000944 | Abnormality of the metaphyses HP:0002983 | Micromelia |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:2) |
| Disease ID | 215 |
|---|---|
| Disease | multiple epiphyseal dysplasia |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:2) |
| Text Mined Symptom | (Waiting for update.) |
Manually Genotype(Total Manually Genotypes:7) | |||
|---|---|---|---|
| Gene | Mutation | DOI | Article Title |
| COL2A1 | c.2833G>A, p.G945S | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| MATN3 | c.659T>C / c.659T>C, p.V220A / p.V220A | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| COMP | c.1112G>A, p.C371Y | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| COMP | c.1153G>A, p.D385N | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| MATN3 | c.359C>T, p.T120M | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| MATN3 | c.361C>T, p.R121W | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
| MATN3 | c.659T>C / c.361C>T, p.V220A / p.R121W | doi:10.1038/gim.2015.129 | Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing |
Text Mining Genotype(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
All Snps(Total Genotypes:2) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs137852653 | 20578249 | 1311 | COMP | umls:C0026760 | BeFree | Cells were transduced with RCAS virus harboring wild type or mutant (C328R, PSACH; T585R, MED) COMP cDNAs and cultured for 3, 4, and 5 days. | 0.0151248 | 2010 | COMP | 19 | 18787644 | A | G |
| rs312262900 | 20578249 | 1311 | COMP | umls:C0026760 | BeFree | Cells were transduced with RCAS virus harboring wild type or mutant (C328R, PSACH; T585R, MED) COMP cDNAs and cultured for 3, 4, and 5 days. | 0.0151248 | 2010 | COMP | 19 | 18785056 | G | T,C,A |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0012368 | Flat face | MP:0012175 | flat face | the appearance of a flattened surface outline or contour of a normally rounded face of an organism |
| HP:0001191 | Abnormality of the carpal bones | MP:0004251 | failure of heart looping | failure of the primitive heart tube to loop asymmetrically during early development |
| HP:0000311 | Round face | MP:0012546 | triangular face | a face whose lower half becomes relatively thin, approaching an appearance of a triangle with a tip facing downwards; usually associated with a prominent forehead and micrognathia |
| HP:0001387 | Joint stiffness | MP:0003098 | decreased tendon stiffness | reduced ability of tendon to maintain tensile strength and load |
| HP:0003103 | Abnormal cortical bone morphology | MP:0013640 | increased bone stiffness | increase in material stiffness (N/mm) during elastic deformation |
| HP:0005930 | Abnormality of epiphysis morphology | 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:0002997 | Abnormality of the ulna | MP:0011205 | excessive folding of visceral yolk sac | the appearance of wrinkles or folds on the surface of the visceral yolk sac |
| 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:0000478 | Abnormality of the eye | 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:0002644 | Abnormality of pelvic girdle bone morphology | MP:0013620 | increased internal diameter of femur | increased 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:0000944 | Abnormality of the metaphyses | 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:0002823 | Abnormality of the femur | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0000504 | Abnormality of vision | MP:0012528 | abnormal zone of polarizing activity morphology | any structural anomaly of the subset of cells found in the posterior mesenchyme region of the vertebrate limb bud; Sonic hedgehog (Shh) produced by ZPA represents the key mediator of the polarizing activity that regulates patterning of the limb along the |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0003312 | Abnormal form of the vertebral bodies | MP:0020010 | decreased bone mineral density of femur | reduction in the quatitative measurment value of mineral content of bone in the long bone of the thigh |
| HP:0002750 | Delayed skeletal maturation | MP:0003379 | absent sexual maturation | failure to initiate pubertal changes that result in achievement of full sexual capacity |
Mapped by homologous gene(Total Items:25) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001385 | Hip dysplasia | MP:0013293 | embryonic lethality prior to tooth bud stage | death prior to the appearance of tooth buds (Mus: E12-E12.5) |
| HP:0005930 | Abnormality of epiphysis morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0200055 | Small hand | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000463 | Anteverted nares | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003103 | Abnormal cortical bone morphology | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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: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:0001798 | Anonychia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002997 | Abnormality of the ulna | 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:0001156 | Brachydactyly syndrome | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0002983 | Micromelia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0012368 | Flat face | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003312 | Abnormal form of the vertebral bodies | 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:0001191 | Abnormality of the carpal bones | MP:0011953 | prolonged PQ interval | increase in the length of time between the beginning of atrial depolarization and the end of atrial repolarization (or recovery), measured by the interval from the beginning of the P wave to the end of the Q wave |
| HP:0000545 | Myopia | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000504 | Abnormality of vision | MP:0013545 | cleft hard palate | cleft in the anterior portion of the palate consisting of bone and mucous membranes; the hard palate is formed from bony processes of the maxilla, premaxilla and palatine bones |
| HP:0001387 | Joint stiffness | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002750 | Delayed skeletal maturation | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0000478 | Abnormality of the eye | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0008812 | Flattened femoral head | MP:0009703 | decreased birth body size | reduction in average body size at birth compared to controls |
| HP:0002823 | Abnormality of the femur | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002644 | Abnormality of pelvic girdle bone morphology | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100670 | Rough bone trabeculation | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000944 | Abnormality of the metaphyses | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 215 |
|---|---|
| Disease | multiple epiphyseal dysplasia |
| Case | (Waiting for update.) |