Malignant hyperthermia

General Information (adopted from Orphanet):

Synonyms, Signs: Malignant hyperpyrexia
Pharmacogenetic myopathy of anesthesia
Hyperthermia of anesthesia
Number of Symptoms 13
OrphanetNr: 423
OMIM Id: 145600
154275
154276
600467
601887
601888
ICD-10: T88.3
UMLs:
MeSH: D008305
MedDRA: 10020844
Snomed: 405501007

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic muscular channelopathy
 -Rare genetic disease
Muscular channelopathy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0002913) Myoglobinuria 22 / 7739
2
 (HPO:0002063) Rigidity 92 / 7739
3
 (HPO:0002615) Hypotension 52 / 7739
4
 (HPO:0001649) Tachycardia 53 / 7739
5
 (HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
6
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
7
 (HPO:0002905) Hyperphosphatemia 18 / 7739
8
 (HPO:0002047) Malignant hyperthermia 20 / 7739
9
 (HPO:0001945) Fever 218 / 7739
10
 (HPO:0005967) Mixed respiratory and metabolic acidosis 2 / 7739
11
 (HPO:0002153) Hyperkalemia 25 / 7739
12
 (HPO:0003201) Rhabdomyolysis 27 / 7739
13
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: