MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 3
General Information (adopted from Orphanet):
Synonyms, Signs: |
MHS3 |
Number of Symptoms | 15 |
OrphanetNr: | |
OMIM Id: |
154276
|
ICD-10: |
|
UMLs: |
|
MeSH: |
|
MedDRA: |
|
Snomed: |
|
Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Heterogeneous [Omim] |
Age of onset: |
|
Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
|
(HPO:0001276) | Hypertonia | 317 / 7739 | ||||
|
(HPO:0001945) | Fever | 218 / 7739 | ||||
|
(HPO:0002047) | Malignant hyperthermia | 20 / 7739 | ||||
|
(HPO:0002153) | Hyperkalemia | 25 / 7739 | ||||
|
(HPO:0003128) | Lactic acidosis | 116 / 7739 | ||||
|
(HPO:0002905) | Hyperphosphatemia | 18 / 7739 | ||||
|
(HPO:0003236) | Elevated serum creatine phosphokinase | 214 / 7739 | ||||
|
(HPO:0003558) | Viral infection-induced rhabdomyolysis | 2 / 7739 | ||||
|
(HPO:0011439) | Anesthetic-induced rhabdomylosis | 2 / 7739 | ||||
|
(HPO:0011440) | Alcohol-induced rhabdomyolysis | 2 / 7739 | ||||
|
(HPO:0003198) | Myopathy | 151 / 7739 | ||||
|
(HPO:0009045) | Exercise-induced rhabdomyolysis | 3 / 7739 | ||||
|
(HPO:0001425) | Heterogeneous | 132 / 7739 | ||||
|
(OMIM) | Rhabdomyolysis may follow severe exercise in hot conditions, neuroleptic drugs, alcohol, or infections | 2 / 7739 | ||||
|
(OMIM) | Elevated blood CPK, phosphate and potassium | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|