eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| thoracic outlet syndrome | ||||
| Disease ID | 1218 |
|---|---|
| Disease | thoracic outlet syndrome |
| Definition | A neurovascular syndrome associated with compression of the BRACHIAL PLEXUS; SUBCLAVIAN ARTERY; and SUBCLAVIAN VEIN at the superior thoracic outlet. This may result from a variety of anomalies such as a CERVICAL RIB, anomalous fascial bands, and abnormalities of the origin or insertion of the anterior or medial scalene muscles. Clinical features may include pain in the shoulder and neck region which radiates into the arm, PARESIS or PARALYSIS of brachial plexus innervated muscles, PARESTHESIA, loss of sensation, reduction of arterial pulses in the affected extremity, ISCHEMIA, and EDEMA. (Adams et al., Principles of Neurology, 6th ed, pp214-5). |
| Synonym | aperture syndrome, thoracic outlet cervicothoracic outlet syndrome neurovascular syndrome, thoracic outlet outlet syndrome thoracic outlet syndrome, thoracic outlet syndromes thoracic outlet syndromes, thoracic superior thoracic aperture syndrome syndrome, thoracic outlet syndromes, thoracic outlet thoracic outlet neurovascular syndrome thoracic outlet syndrome (disorder) thoracic outlet syndrome [ambiguous] thoracic outlet syndrome [disease/finding] thoracic outlet syndromes tos tos - thoracic outlet syndrome |
| Orphanet | |
| DOID | |
| UMLS | C0039984 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:4) C0022116 | ischemia | 1 C1335437 | plexopathy | 1 C0042900 | vitiligo | 1 C0700251 | brachial plexopathy | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:15) 820 | CAMP | 1.798 | DISEASES 23607 | CD2AP | 1.956 | DISEASES 1025 | CDK9 | 2.11 | DISEASES 1508 | CTSB | 1.452 | DISEASES 23644 | EDC4 | 3.494 | DISEASES 2152 | F3 | 1.744 | DISEASES 2246 | FGF1 | 2.076 | DISEASES 342184 | FMN1 | 3.052 | DISEASES 2591 | GALNT3 | 2.466 | DISEASES 9446 | GSTO1 | 2.622 | DISEASES 55733 | HHAT | 3.103 | DISEASES 102723508 | KANTR | 3.281 | DISEASES 5422 | POLA1 | 3.507 | DISEASES 9939 | RBM8A | 2.484 | DISEASES 140885 | SIRPA | 2.706 | DISEASES |
| Locus | (Waiting for update.) |
| Disease ID | 1218 |
|---|---|
| Disease | thoracic outlet syndrome |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:11) HP:0002829 | Arthralgia HP:0003401 | Paresthesia HP:0003326 | Myalgia HP:0000763 | Sensory neuropathy HP:0001324 | Muscle weakness HP:0004936 | Venous thrombosis HP:0003457 | EMG abnormality HP:0003394 | Muscle cramps HP:0002619 | Varicose veins HP:0000772 | Abnormality of the ribs HP:0000969 | Edema |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:6) HP:0012531 | Pain | 2 HP:0000891 | Cervical ribs | 2 HP:0001727 | Thromboembolic stroke | 1 HP:0011675 | Arrhythmias | 1 HP:0001297 | Cerebral vascular events | 1 HP:0001045 | Blotchy loss of skin color | 1 |
| Disease ID | 1218 |
|---|---|
| Disease | thoracic outlet syndrome |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:8) |
| 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:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Annotation(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
GWASdb Snp Trait(Total Genotypes:0) | |
|---|---|
| (Waiting for update.) | |
Mapped by lexical matching(Total Items:2) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000772 | Abnormality of the ribs | 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 |
Mapped by homologous gene(Total Items:11) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0004936 | Venous thrombosis | MP:0014166 | ectopic cranial bone | the appearance of an extra bone structure at an atypical location in or near the cranium |
| HP:0000772 | Abnormality of the ribs | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0000969 | Edema | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0002619 | Varicose veins | MP:0011967 | increased or absent threshold for auditory brainstem response | increase in the value at which one or more sound frequencies or broadband clicks first elicits a recordable response generated by electrical activity of neurons in the ascending auditory system, or complete lack of a recordable response at any frequency o |
| HP:0003394 | Muscle cramps | MP:0020220 | decreased tear production | decreased production of the amount of fluid produced in the eye |
| HP:0003401 | Paresthesia | 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:0003326 | Myalgia | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| 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:0000763 | Sensory neuropathy | 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 |
| Disease ID | 1218 |
|---|---|
| Disease | thoracic outlet syndrome |
| Case | (Waiting for update.) |