MHS1
MCID: MLG147
MIFTS: 43
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Malignant Hyperthermia 1 (MHS1)
Categories:
Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Respiratory diseases
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MalaCards integrated aliases for Malignant Hyperthermia 1:
Characteristics:Orphanet epidemiological data:58
king-denborough syndrome
Inheritance: Autosomal dominant; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
heterogeneous disorder precipitated by general anesthesia elevated body temperatures to 42 degrees celsius incidence of mh in anesthetized children is 1 in 15,000 incidence of mh in anesthetized adults is 1 in 50,000-100,000 HPO:31Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases Anatomical: Neuronal diseases Bone diseases Muscle diseases Respiratory diseases Blood diseases
ICD10:
33
Orphanet: 58
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UniProtKB/Swiss-Prot :
73
Malignant hyperthermia 1: Autosomal dominant pharmacogenetic disorder of skeletal muscle and is one of the main causes of death due to anesthesia. In susceptible people, an MH episode can be triggered by all commonly used inhalational anesthetics such as halothane and by depolarizing muscle relaxants such as succinylcholine. The clinical features of the myopathy are hyperthermia, accelerated muscle metabolism, contractures, metabolic acidosis, tachycardia and death, if not treated with the postsynaptic muscle relaxant, dantrolene. Susceptibility to MH can be determined with the 'in vitro' contracture test (IVCT): observing the magnitude of contractures induced in strips of muscle tissue by caffeine alone and halothane alone. Patients with normal response are MH normal (MHN), those with abnormal response to caffeine alone or halothane alone are MH equivocal (MHE(C) and MHE(H) respectively).
MalaCards based summary : Malignant Hyperthermia 1, also known as malignant hyperthermia, susceptibility to, 1, is related to malignant hyperthermia 2 and malignant hyperthermia 3, and has symptoms including fever, pain, postoperative and postoperative nausea and vomiting. An important gene associated with Malignant Hyperthermia 1 is RYR1 (Ryanodine Receptor 1). Affiliated tissues include skeletal muscle, testes and heart, and related phenotypes are fever and elevated serum creatine kinase NIH Rare Diseases : 52 The King-Denborough syndrome (KDS) is a congenital myopathy associated with susceptibility to malignant hyperthermia , skeletal abnormalities and dysmorphic features with characteristic facial appearance. Although the cause of King-Denborough syndrome is not fully understood, at least some cases have been attributed to the ryanodine receptor gene (RYR1), which has been tied to malignant hyperthermia and central core disease . OMIM : 56 Malignant hyperthermia susceptibility (MHS), a skeletal muscle disorder most often inherited as an autosomal dominant trait, is one of the main causes of death due to anesthesia. In susceptible people, a malignant hyperthermia episode is triggered by exposure to commonly used volatile anesthetic agents such as halothane or depolarizing muscle relaxants such as succinyl choline. A fulminant MH crisis is characterized by any combination of hyperthermia, skeletal muscle rigidity, tachycardia or arrhythmia, respiratory and metabolic acidosis, and rhabdomyolysis. Except for this susceptibility to triggering agents, MHS patients are not clinically distinguishable from the general population (summary by Monnier et al., 1997). (145600) Wikipedia : 74 Malignant hyperthermia (MH) is a type of severe reaction that occurs in response to particular... more... |
Human phenotypes related to Malignant Hyperthermia 1:31 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:145600UMLS symptoms related to Malignant Hyperthermia 1:fever, pain, postoperative, postoperative nausea and vomiting, muscle rigidity |
Interventional clinical trials:
Inferred drug relations via UMLS 71 / NDF-RT 50 :
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MalaCards organs/tissues related to Malignant Hyperthermia 1:40
Skeletal Muscle,
Testes,
Heart
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Articles related to Malignant Hyperthermia 1:(show top 50) (show all 103)
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ClinVar genetic disease variations for Malignant Hyperthermia 1:6 (show top 50) (show all 539)
UniProtKB/Swiss-Prot genetic disease variations for Malignant Hyperthermia 1:73 (show top 50) (show all 93)
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