Myasthenia gravis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
Acquired myasthenia Autoimmune myasthenia gravis |
| Number of Symptoms | 12 |
| OrphanetNr: | 589 |
| OMIM Id: |
159400
254200 607085 |
| ICD-10: |
G70.0 |
| UMLs: |
C0026896 |
| MeSH: |
D009157 |
| MedDRA: |
10028417 |
| Snomed: |
91637004 |
Prevalence, inheritance and age of onset:
| Prevalence: | 20 of 100 000 [Orphanet] |
| Inheritance: |
Multifactorial Not applicable [Orphanet] |
| Age of onset: |
All ages [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Acquired neuromuscular junction disease
-Rare neurologic disease |
Symptom Information:
|
|
(HPO:0000508) | Ptosis | 459 / 7739 | ||||
|
|
(HPO:0000597) | Ophthalmoparesis | 71 / 7739 | ||||
|
|
(HPO:0003473) | Fatigable weakness | 39 / 7739 | ||||
|
|
(HPO:0000872) | Hashimoto thyroiditis | 5 / 7739 | ||||
|
|
(HPO:0008180) | Mildly elevated creatine phosphokinase | 28 / 7739 | ||||
|
|
(HPO:0100522) | Thymoma | 5 / 7739 | ||||
|
|
(HPO:0002664) | Neoplasm | 111 / 7739 | ||||
|
|
(HPO:0007126) | Proximal amyotrophy | 29 / 7739 | ||||
|
|
(HPO:0003403) | EMG: decremental response of compound muscle action potential to repetitive nerve stimulation | 7 / 7739 | ||||
|
|
(HPO:0003554) | Type 2 muscle fiber atrophy | 14 / 7739 | ||||
|
|
(HPO:0003581) | Adult onset | 117 / 7739 | ||||
|
|
(HPO:0003745) | Sporadic | 131 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|