eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| neuralgic amyotrophy | ||||
| Disease ID | 598 |
|---|---|
| Disease | neuralgic amyotrophy |
| Definition | A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and loss of sensation in the upper extremity. This condition may be associated with VIRUS DISEASES; IMMUNIZATION; SURGERY; heroin use (see HEROIN DEPENDENCE); and other conditions. The term brachial neuralgia generally refers to pain associated with brachial plexus injury. (From Adams et al., Principles of Neurology, 6th ed, pp1355-6) |
| Synonym | amyotrophic neuralgia brachial neuritides brachial neuritis brachial neuritis (disorder) brachial neuritis plexus brachial neuritis, nos brachial plexus neuritides brachial plexus neuritis brachial plexus neuritis [disease/finding] girdle neuropathies, shoulder girdle neuropathy, shoulder neuritides, brachial neuritides, brachial plexus neuritis - brachial neuritis brachial nos neuritis, brachial neuritis, brachial plexus neuropathies, shoulder girdle neuropathies, shoulder-girdle neuropathy, shoulder girdle neuropathy, shoulder-girdle parsonage aldren turner syndrome parsonage syndrome turners parsonage turner syndrome parsonage-aldren-turner syndrome parsonage-turner syndrome shoulder girdle neuropathies shoulder girdle neuropathy shoulder girdle syndrome shoulder-girdle neuropathies shoulder-girdle neuropathy shoulder-girdle syndrome syndrome, parsonage-aldren-turner syndrome, parsonage-turner |
| Orphanet | |
| DOID | |
| ICD10 | |
| UMLS | C0221759 |
| MeSH | |
| SNOMED-CT | |
| Comorbidity | UMLS | Disease | Sentences' Count(Total Sentences:10) C0019360 | herpes zoster infection | 1 C1692886 | pyogenic arthritis | 1 C0442874 | neuropathy | 1 C0019360 | herpes zoster | 1 C0009782 | connective tissue disease | 1 C0019360 | zoster | 1 C0026846 | muscle wasting | 1 C0494491 | mononeuropathy | 1 C1510429 | entrapment neuropathy | 1 C0003864 | arthritis | 1 |
| Curated Gene | (Waiting for update.) |
| Inferring Gene | (Waiting for update.) |
| Text Mined Gene | Entrez_id | Symbol | Score | Resource(Total Genes:24) 820 | CAMP | 1.517 | DISEASES 959 | CD40LG | 2.143 | DISEASES 959 | CD40LG | 2.105 | DISEASES 23405 | DICER1 | 1.64 | DISEASES 8632 | DNAH17 | 4.847 | DISEASES 1785 | DNM2 | 2.524 | DISEASES 1805 | DPT | 2.797 | DISEASES 668 | FOXL2 | 2.977 | DISEASES 668 | FOXL2 | 2.042 | DISEASES 8811 | GALR2 | 2.945 | DISEASES 2705 | GJB1 | 3.338 | DISEASES 3550 | IK | 3.408 | DISEASES 102723508 | KANTR | 1.5 | DISEASES 3980 | LIG3 | 2.055 | DISEASES 4359 | MPZ | 3.107 | DISEASES 4534 | MTM1 | 3.155 | DISEASES 8898 | MTMR2 | 2.897 | DISEASES 4593 | MUSK | 2.879 | DISEASES 4602 | MYB | 1.933 | DISEASES 57716 | PRX | 3.296 | DISEASES 6397 | SEC14L1 | 5.16 | DISEASES 27286 | SRPX2 | 2.485 | DISEASES 6427 | SRSF2 | 3.22 | DISEASES 7106 | TSPAN4 | 2.937 | DISEASES |
| Locus | Symbol | Locus(Total Locus:1) SEPT9 | 17q25.3 |
| Disease ID | 598 |
|---|---|
| Disease | neuralgic amyotrophy |
| Integrated Phenotype | HPO | Name(Total Integrated Phenotypes:16) HP:0002829 | Arthralgia HP:0000160 | Narrow mouth HP:0003401 | Paresthesia HP:0000175 | Cleft palate HP:0003691 | Scapular winging HP:0002093 | Respiratory insufficiency HP:0001271 | Polyneuropathy HP:0001324 | Muscle weakness HP:0004322 | Short stature HP:0003457 | EMG abnormality HP:0002167 | Neurological speech impairment HP:0009830 | Peripheral neuropathy HP:0001063 | Acrocyanosis HP:0000912 | Sprengel anomaly HP:0000311 | Round face HP:0002360 | Sleep disturbance |
| Text Mined Phenotype | HPO | Name | Sentences' Count(Total Phenotypes:10) HP:0003470 | Inability to move | 3 HP:0001369 | Arthritis | 1 HP:0012181 | Entrapment neuropathy | 1 HP:0006597 | Paralyzed diaphragm | 1 HP:0003202 | Neurogenic muscle atrophy, especially in the lower limbs | 1 HP:0002015 | Swallowing difficulty | 1 HP:0009831 | Single damaged nerve | 1 HP:0000969 | Dropsy | 1 HP:0001945 | Fever | 1 HP:0001605 | Vocal cord paralysis | 1 |
| Disease ID | 598 |
|---|---|
| Disease | neuralgic amyotrophy |
| Manually Symptom | UMLS | Name(Total Manually Symptoms:4) |
| Text Mined Symptom | UMLS | Name | Sentences' Count(Total Symptoms:2) |
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:4) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0000160 | Narrow mouth | MP:0000452 | abnormal mouth morphology | any structural anomaly of the oral cavity |
| HP:0001324 | Muscle weakness | MP:0000746 | weakness | state of being infirm or less strong than normal |
| HP:0000175 | Cleft palate | MP:0013550 | abnormal secondary palate morphology | |
| 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 |
Mapped by homologous gene(Total Items:16) | ||||
|---|---|---|---|---|
| HP ID | HP Name | MP ID | MP Name | Annotation |
| HP:0002167 | Neurological speech impairment | MP:0020329 | decreased capillary density | reduction in the number of capillaries in a given cross-sectional area of a tissue |
| HP:0001271 | Polyneuropathy | MP:0020186 | altered susceptibility to bacterial infection | a change in the likelihood that an organism will develop ill effects from a bacterial infection or from components of or toxins produced by bacteria |
| HP:0002093 | Respiratory insufficiency | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0003457 | EMG abnormality | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0002829 | Arthralgia | MP:0020154 | impaired humoral immune response | impaired response of the immune system that mediates secreted antibodies produced in B cells |
| HP:0000160 | Narrow mouth | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| HP:0000175 | Cleft palate | 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:0000912 | Sprengel anomaly | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0003691 | Scapular winging | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0009830 | Peripheral neuropathy | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| HP:0001063 | Acrocyanosis | MP:0020137 | decreased bone mineralization | decrease in the rate at which minerals are deposited into bone |
| 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:0000311 | Round face | MP:0020254 | decreased collagen level | decreased level of the main structural protein of the various connective tissues in animals |
| 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:0002360 | Sleep disturbance | MP:0020169 | increased thyroid gland weight | higher than average weight of the thyroid gland |
| HP:0001324 | Muscle weakness | MP:0020309 | increased creatine kinase activity | increased ability of to catalyze the reaction: ATP + creatine = N-phosphocreatine + ADP + 2 H(+). |
| Disease ID | 598 |
|---|---|
| Disease | neuralgic amyotrophy |
| Case | (Waiting for update.) |