Malignant hyperthermia susceptibility
| Disorder | |
|---|---|
| OMIM #: | #145600 (Click to access OMIM database) |
| Disorder: | Malignant hyperthermia susceptibility |
| Also known as: | MHS |
| Clinical | |
| Phenotype: | hyperthermia, arrhythmia, hypertonia, hyperkalemia, metabolic acidosis, elevated serum creatine phosphokinase, hyperphosphatemia, precipitated by administration of general anesthesia |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | RYR1 |
| Base Change: | C>T, at nucleotide 1840 |
| Amino Acid Change: | arg 614 --> cys |
| Last updated: | 2022-11-05 |
| References |
|---|
| Serfas KD, Bose D, Patel L, Wrogemann K, Phillips MS, MacLennan DH, Greenberg CR. (1996) Comparison of the segregation of the RYR1 C1840T mutation with segregation of the caffeine/halothane contracture test results for malignant hyperthermia susceptibility in a large Manitoba Mennonite family. Anesthesiology 84(2):322-9. PubMed ID: 8602662 |
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