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Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database 12940 malignant hyperthermia Eponyms: Inheritance: hyperthermia of anesthesia malignant hyperpyrexia hyperthermia susceptibility MHS autosomal dominant genomic imprinting Semeiological Cardiovasculo-neurological disorder. Potentially lethal pharmacogenetic disease. Masseter spasm, arrythmia, muscle rigidity, metabolic acidosis, rhabdomyolisis, myoglobinuria, intravascular coagulation, hyperthermia Synthesis: during or shortly after general anesthesia. Caffeine-hallothane contracture test anesthesia. Maternal imprinting. May be a relationship between malignant hyperthermia and central core disease. Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects heart conduction defects, cardiac arrhythmia, including tachycardia, atrial fibrillation, ventricular fibrillation LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome 17q localization chromosome 19q localization gene, structural-functional anomalies gene analysis-DNA analysis RYR1 (MHS) (CCO) ryanodine receptor-1 (skeletal), gene chr.19q13.1 plasma lipids, anomalies cholesterol, high levels plasma nonprotein-organic constituents, anomalies carbohydrates disorders diabetes mellitus in syndromic association hyperglycemia lactic acidosis, lacticacidemia plasma proteins, anomalies organic acid disorders plasma, enzymes, modified functions creatine kinase, creatine phosphokinase (CPK) (CK) , high levels tissue, biochemical changes metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis urine, constituent changes myoglobinuria MUSCULAR DISEASES muscular defects, distrectual lethality, in neuromuscular disorders NEUROLOGICAL DISORDERS anhestesia, modifed susceptibility hyperthermia of anhestesia neurological dysfunctions hyperthermia OTHERS inheritance inheritance, autosomal dominant inheritance, genomic imprinting PRENATAL-NEONATAL MODIFIED DATA foetal changes foetal changes, recognized by laboratory data malignant hyperthermia Page 1 of 2 Copyright 1980 - 2007 V. Ventruto / A. Di Luccio Genus database prenatal diagnosis prenatal diagnosis, molecular Super group: Super aggreg. FOETAL CHANGES foetal changes, recognized by laboratory data Aggregations: LETHALITY lethality, in neuromuscular disorders METABOLIC DISORDERS carbohydrates, disorders metabolic acidosis, ketonuria, ketosis, ketonemia, ketoacidosis organic acid disorders OTHER diabetes, mellitus in syndromic association Differential diagnosis: Bibliography malignant hyperthermia 677 adenylate kinase muscle deficiency 2320 arthrogryposis-torticollis-malignant hyperthermia syndrome 27180 foetal AIDS infection 13435 intussusception-malignant hyperthermia 13980 King-Denborough syndrome 28037 malignant hyperthermia, susceptibility 2 28036 malignant hyperthermia, susceptibility 3 28034 malignant hyperthermia, susceptibility 4 28035 malignant hyperthermia, susceptibility 5 28096 native american myopathy 2915 skeletal muscle ryanodine receptor OMIM ID: 145600 Arch.Neurol.61(1),27-29,2004 Peter S.Harper: Practical Genetic Counselling. 6th Ed. 2004 pag. 168 Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 452 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.29772980,2007 Page 2 of 2
