eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thalidomide embryopathy | ||||
| Disease ID | 1388 |
|---|---|
| Disease | thalidomide embryopathy |
| Definition | Fetal embryopathy associated with maternal thalidomide use during pregnancy characterized by phocomelia of one or all limbs, other limb defects such as thumb abnormalities, and other structural anomalies that may include facial hemangioma, esophageal and duodenal atresia, tetralogy of Fallot, renal agenesis, and anomalies of the external ear. Long term complications may include Moebius syndrome or autism.(NICHD) |
| Synonym | congenital malformation due to thalidomide fetal thalidomide syndrome foetal thalidomide syndrome lenz's syndrome thalidomide embryopathy syndrome thalidomide embryopathy syndrome (disorder) thalidomide-induced birth defect wiedemann's syndrome |
| Orphanet | |
| DOID | |
| UMLS | C0432365 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:2) |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1388 |
|---|---|
| Disease | thalidomide embryopathy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:17) HP:0004059 | Radial club hand HP:0009601 | Aplasia/Hypoplasia of the thumb HP:0001171 | Split hand HP:0001177 | Preaxial hand polydactyly HP:0009813 | Upper limb phocomelia HP:0001199 | Triphalangeal thumb HP:0000356 | Abnormality of the outer ear HP:0000855 | Insulin resistance HP:0002257 | Chronic rhinitis HP:0002564 | Malformation of the heart and great vessels HP:0002991 | Abnormality of the fibula HP:0000365 | Hearing impairment HP:0004322 | Short stature HP:0006507 | Aplasia/hypoplasia of the humerus HP:0006495 | Aplasia/Hypoplasia of the ulna HP:0009892 | Anotia HP:0005613 | Aplasia/hypoplasia of the femur |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:1) |
| Disease ID | 1388 |
|---|---|
| Disease | thalidomide embryopathy |
| 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:1) | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| snpId | pubmedId | geneId | geneSymbol | diseaseId | sourceId | sentence | score | Year | geneSymbol_dbSNP | CHROMOSOME | POS | REF | ALT |
| rs121434618 | 15004558 | 54880 | BCOR | umls:C0432365 | BeFree | We identified a substitution, nt 254C-->T; P85L, in BCOR (encoding BCL-6-interacting corepressor, BCOR) in affected males from the family with Lenz syndrome previously used to identify the MAA2 locus. | 0.000271442 | 2004 | BCOR | X | 40075092 | 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:9) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002991 | Abnormality of the fibula | 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:0001177 | Preaxial hand polydactyly | MP:0009744 | postaxial polydactyly | duplication of all or part of any of the rays except the first ray on one or more of the autopods |
| HP:0005613 | Aplasia/hypoplasia of the femur | MP:0009139 | failure of Mullerian duct regression | failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | MP:0009139 | failure of Mullerian duct regression | failure of the transient embryonic paramesonephric ducts, which normally develop into the oviduct, uterus, cervix and upper vagina in the female, to regress in the male; persistence of Mullerian ducts is typically consistent with a loss of anti-Mullerian |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | 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:0002257 | Chronic rhinitis | MP:0001867 | rhinitis | inflammation of the mucous membrane of the nose |
| HP:0000855 | Insulin resistance | MP:0010935 | increased airway resistance | greater opposition to flow of air caused by the forces of friction, measured as the ratio of driving pressure to the rate of air flow |
| HP:0009813 | Upper limb phocomelia | MP:0002109 | abnormal limb morphology | any structural anomaly of the projecting paired appendages of an animal trunk, used in particular for movement and grasping; usually denotes the arm and/or legs in mammalian species |
| HP:0000356 | Abnormality of the outer ear | MP:0010701 | fusion of atlas and odontoid process | the large protuberance that projects upward from the cervical axis (C2), around which the cervical atlas normally rotates, is instead fused to elements of the atlas; the odontoid process may or may not remain attached to the axis |
Mapped by homologous gene(Total Items:15) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002257 | Chronic rhinitis | MP:0014185 | cerebellum atrophy | acquired diminution of the size of the cerebellum associated with wasting as from death and reabsorption of cells, diminished cellular proliferation, decreased cellular volume, pressure, ischemia, malnutrition, reduced function or malfunction, or hormonal |
| HP:0009892 | Anotia | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000855 | Insulin resistance | MP:0020234 | decreased basal metabolism | decrease in heat production of an organism at the lowest level of cell chemistry in an inactive, awake, and fasting state |
| HP:0009813 | Upper limb phocomelia | MP:0011527 | disorganized placental labyrinth | derangement of the placental layers where embryonic blood vessels are surrounded by trophoblast cells and maternal blood |
| HP:0004059 | Radial club hand | MP:0013167 | abnormal hindlimb bud morphology | any structural anomaly of the limb bud that develops into a hindlimb (usually the leg or back limb in mammalian species) |
| HP:0001199 | Triphalangeal thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0005613 | Aplasia/hypoplasia of the femur | MP:0011101 | prenatal lethality, incomplete penetrance | the appearance of lower than Mendelian ratios of organisms of a given genotype due to death of some, but not all of the organisms between fertilization and birth (Mus: approximately E18.5) |
| HP:0000365 | Hearing impairment | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000356 | Abnormality of the outer ear | 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:0001177 | Preaxial hand polydactyly | 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:0002991 | Abnormality of the fibula | 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: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:0001171 | Split hand | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| Disease ID | 1388 |
|---|---|
| Disease | thalidomide embryopathy |
| Case | (Waiting for update.) |