eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| tricho-dento-osseous syndrome | ||||
| Disease ID | 1630 |
|---|---|
| Disease | tricho-dento-osseous syndrome |
| Synonym | amelogenesis imperfecta - osteosclerosis syndrome taurodontism - curly hair - osteosclerosis syndrome tdo - trichodento-osseous syndrome tdo syndrome tricho-dento-osseous syndrome (disorder) trichodento-osseous syndrome trichodentoosseous syndrome |
| Orphanet | |
| OMIM | |
| UMLS | C0265333 |
| 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 | (Waiting for update.) |
| Locus | Symbol | Locus(Total Locus:1) DLX3 | 17q21.33 |
| Disease ID | 1630 |
|---|---|
| Disease | tricho-dento-osseous syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:9) HP:0000264 | Abnormality of the mastoid HP:0011001 | Increased bone mineral density HP:0000691 | Decreased width of tooth HP:0001595 | Hair abnormality HP:0001808 | Brittle nails HP:0000687 | Widely spaced teeth HP:0002007 | Frontal protruberance HP:0000268 | Dolichocephaly HP:0000679 | Taurodont |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1630 |
|---|---|
| Disease | tricho-dento-osseous 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:4) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs387906405 | NA | 1747 | DLX3 | umls:C0265333 | CLINVAR | NA | 0.365895776 | NA | DLX3 | 17 | 49991807 | CCCC | - |
| rs387906405 | 25815730 | 54959 | ODAM | umls:C0265333 | BeFree | Particularly, over-expression of mutant-DLX3 (c.571_574delGGGG, responsible for TDO) inhibited the activation function of DLX3 on expression levels and promoter activities of the Enam, Amelx, and Odam genes. | 0.000271442 | 2015 | DLX3 | 17 | 49991807 | CCCC | - |
| rs387906406 | NA | 1747 | DLX3 | umls:C0265333 | CLINVAR | NA | 0.365895776 | NA | DLX3 | 17 | 49991819 | AG | - |
| rs387906406 | 18203197 | 1747 | DLX3 | umls:C0265333 | BeFree | DLX3 c.561_562delCT mutation causes attenuated phenotype of tricho-dento-osseous syndrome. | 0.365895776 | 2008 | DLX3 | 17 | 49991819 | AG | - |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:3) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001595 | Abnormality of the hair | MP:0008261 | arrest of male meiosis | cessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell |
| HP:0000687 | Widely spaced teeth | MP:0004033 | supernumerary teeth | occurrence of more than the usual number of teeth |
| 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:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001808 | Fragile nails | MP:0013781 | abnormal mammary gland luminal epithelium morphology | any structural anomaly of the inner cell layer of the mammary epithelium bilayer that lines the luminal surface of mammary gland ducts and alveoli; luminal cells have only limited contact with the underlying basement membrane and surrounding connective ti |
| HP:0000679 | Taurodontia | MP:0014124 | increased amylin secretion | greater than normal production or release of the polypeptide hormone that is normally co-secreted with insulin by the beta cells of the pancreatic islets of Langerhans and is known to inhibit glucagon secretion, delay gastric emptying, and act as a satiet |
| HP:0000264 | Abnormality of the mastoid | MP:0011098 | embryonic lethality during organogenesis, complete penetrance | death of all organisms of a given genotype in a population between embryo turning and the completion of organogenesis (Mus: E9-9.5 to less than E14) |
| HP:0000268 | Dolichocephaly | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0001595 | Abnormality of the hair | MP:0014127 | increased thymoma incidence | greater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas |
| HP:0011001 | Increased bone mineral density | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002007 | Frontal bossing | 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:0000687 | Widely spaced teeth | MP:0020157 | abnormal behavioral response to alcohol | any anomaly in the behavioral response induced by alcohol, such as induced hyperactivity or stereotypic behavior |
| HP:0000691 | Microdontia | 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 |
| Disease ID | 1630 |
|---|---|
| Disease | tricho-dento-osseous syndrome |
| Case | (Waiting for update.) |