eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| antisynthetase syndrome | ||||
| Disease ID | 1201 |
|---|---|
| Disease | antisynthetase syndrome |
| Definition | Anti-synthetase syndrome is a rare medical syndrome associated with interstitial lung disease, dermatomyositis, and polymyositis and other autoimmune diseases.[1][2] - Wikipedia Reference: https://en.wikipedia.org/wiki/antisynthetase syndrome |
| Synonym | antisynthetase syndrome (disorder) |
| Orphanet | |
| UMLS | C2609059 |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:18) C0024115 | lung disease | 5 C0206062 | interstitial lung disease | 5 C0020538 | hypertension | 3 C0020542 | pulmonary hypertension | 3 C0003873 | rheumatoid arthritis | 2 C1619734 | pulmonary arterial hypertension | 2 C0040053 | thrombus | 1 C0019158 | hepatitis | 1 C0085655 | polymyositis | 1 C0019163 | hepatitis b | 1 C0013990 | emphysema | 1 C0023524 | progressive multifocal leukoencephalopathy | 1 C0027059 | myocarditis | 1 C0003864 | arthritis | 1 C0085786 | idiopathic interstitial pneumonia | 1 C2350236 | idiopathic interstitial pneumonias | 1 C0016436 | folliculitis | 1 C0270612 | leukoencephalopathy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | (Waiting for update.) |
| Locus | (Waiting for update.) |
| Disease ID | 1201 |
|---|---|
| Disease | antisynthetase syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:28) HP:0002015 | Dysphagia HP:0002960 | Autoimmunity HP:0100585 | Telangiectasia of the skin HP:0001659 | Aortic regurgitation HP:0001373 | Joint dislocation HP:0000217 | Xerostomia HP:0002205 | Recurrent respiratory infections HP:0003326 | Myalgia HP:0003236 | Elevated serum creatine phosphokinase HP:0002206 | Pulmonary fibrosis HP:0002664 | Neoplasm HP:0002093 | Respiratory insufficiency HP:0001608 | Abnormality of the voice HP:0003457 | EMG abnormality HP:0001945 | Fever HP:0012819 | Myocarditis HP:0012735 | Cough HP:0100614 | Myositis HP:0000988 | Skin rash HP:0001097 | Keratoconjunctivitis sicca HP:0001324 | Muscle weakness HP:0006530 | Interstitial pulmonary disease HP:0100679 | Lack of skin elasticity HP:0100749 | Chest pain HP:0000989 | Pruritus HP:0001252 | Muscular hypotonia HP:0002092 | Pulmonary arterial hypertension HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:9) HP:0006530 | Interstitial lung disease | 5 HP:0000822 | Hypertension | 3 HP:0002092 | Pulmonary artery hypertension | 3 HP:0001370 | Rheumatoid arthritis | 2 HP:0002352 | Leukoencephalopathy | 1 HP:0002097 | Pulmonary emphysema | 1 HP:0001369 | Arthritis | 1 HP:0012115 | Liver inflammation | 1 HP:0012819 | Myocarditis | 1 |
| Disease ID | 1201 |
|---|---|
| Disease | antisynthetase syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:1) C0206062 | interstitial lung disease |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:1) |
Manually Genotype(Total Text Mining Genotypes:0) |
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Text Mining Genotype(Total Genotypes:0) | |
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| (Waiting for update.) | |
All Snps(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
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| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
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| (Waiting for update.) | |
Mapped by lexical matching(Total Items:10) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001608 | Abnormality of the voice | MP:0013283 | failure of ventral body wall closure | failure of the lateral body wall folds (a combination of mesoderm and ectoderm arising on each side of the embryo) to progress ventrally and meet in the midline and/or fuse to close the ventral body wall; normally, this closure is aided by growth of the h |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020280 | increased creatine kinase level | increased level of the enzyme that catalyzes the reversible transfer of creatine to phosphocreatine |
| HP:0100679 | Lack of skin elasticity | MP:0010919 | increased number of pulmonary neuroendocrine bodies | greater number of the corpuscular, organoid structures composed of PNECs, found as distinctive innervated clusters only within intrapulmonary airways, where they appear concentrated at airway branch points; NEBs reach from the basement membrane to the air |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0001252 | Muscular hypotonia | MP:0004144 | hypotonia | decreased muscle tension resulting in limpness of the muscles in the resting state, not to be confused with weakness |
| HP:0006530 | Interstitial pulmonary disease | MP:0002295 | abnormal pulmonary circulation | any anomaly in the circulation of blood through the lungs |
| HP:0002092 | Pulmonary hypertension | MP:0005258 | ocular hypertension | abnormal elevation of the intraocular pressure |
| HP:0002206 | Pulmonary fibrosis | MP:0009419 | skeletal muscle fibrosis | formation of fibrous tissue within skeletal muscle as a result of repair or a reactive process |
| HP:0100585 | Telangiectasia of the skin | MP:0011022 | abnormal circadian regulation of systemic arterial blood pressure | any anomaly in the process in which an organism modulates its blood pressure at different values with a regularity of approximately 24 hours |
| HP:0002205 | Recurrent respiratory infections | MP:0014182 | decreased respiratory epithelial sodium ion transmembrane transport | decrease in the directed movement of sodium ions from one side of the respiratory epithelial cell membrane to the other |
Mapped by homologous gene(Total Items:27) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001252 | Muscular hypotonia | 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:0012735 | Cough | 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:0001945 | Fever | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002664 | Neoplasm | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002015 | Dysphagia | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0002205 | Recurrent respiratory infections | MP:0020321 | increased vascular endothelial cell apoptosis | increase in the timing or the number of vascular endothelial cells undergoing programmed cell death |
| HP:0002206 | Pulmonary fibrosis | MP:0014233 | bile duct epithelium hyperplasia | |
| HP:0001659 | Aortic regurgitation | 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:0100679 | Lack of skin elasticity | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002092 | Pulmonary hypertension | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001097 | Keratoconjunctivitis sicca | MP:0013378 | increased sebocyte number | greater than expected number of the highly specialized, sebum-producing epithelial cells of the sebaceous glands that release their content by rupture of the cell membrane and cellular degradation |
| HP:0002960 | Autoimmunity | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0001373 | Joint dislocation | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003236 | Elevated serum creatine phosphokinase | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0100614 | Myositis | MP:0011635 | abnormal mitochondrial crista morphology | Any of the inward folds of the mitochondrial inner membrane; crista number, extent, and shape differ in mitochondria from different tissues and organisms; crista appear to be devices for increasing the surface area of the mitochondrial inner membrane, whe |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0001608 | Abnormality of the voice | MP:0020214 | susceptible to malignant hyperthermia | increased susceptibility to hyperthermia triggered by exposure to certain drugs used for general anesthesia, specifically the volatile anesthetic agents and the neuromuscular blocking agent, succinylcholine |
| HP:0006530 | Interstitial pulmonary disease | MP:0011846 | decreased kidney collecting duct number | smaller than expected number of the kidney ducts that collect urine from the distal convoluted tubules, merge and become larger as they descend from the renal cortex into the medulla, and respond to vasopressin and aldosterone to regulate water, electroly |
| HP:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0100749 | Chest pain | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000989 | Pruritus | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0100585 | Telangiectasia of the skin | 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:0000217 | Xerostomia | 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:0000988 | Skin rash | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| Disease ID | 1201 |
|---|---|
| Disease | antisynthetase syndrome |
| Case | (Waiting for update.) |