Malignant hyperthermia, susceptibility to, 1

Preferred Label : Malignant hyperthermia, susceptibility to, 1;

Symbol : MHS1;

CISMeF acronym : MH; MHS; MHS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hyperthermia of anesthesia; Hyperpyrexia, malignant; MHS; MH;

Description : 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). - Genetic Heterogeneity of Susceptibility to Malignant Hyperthermia Other MHS loci include MHS2 (154275) on chromosome 17q; MHS3 (154276) on chromosome 7q; MHS4 (600467) on chromosome 3q; MHS5 (601887), caused by mutation in the CACNA1S gene (114208) on chromosome 1q32; and MHS6 (601888) on chromosome 5p.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutations in the ryanodine receptor gene (RYR1, 180901.0001);

Laboratory abnormalities : Elevated serum CPK; Hyperkalemia; Hyperphosphatemia; Myoglobinuria; Diagnosis by exposing muscle biopsy to caffeine and/or halothane;

Prefixed ID : #145600;

Details

Origin ID

145600;

UMLS CUI

C2930980;

Automatic exact mappings (from CISMeF team)
- AML Medical History Table [NCIt concept]
- EWS Medical History Table [NCIt concept]
- King-Denborough syndrome [ORDO Disease]
- Medical History Domain [NCIt concept]
- Miao Chinese [NCIt concept]
- RYR1 wt Allele [NCIt concept]
- hirschsprung disease [MeSH Descriptor]
- hodgkin disease [MeSH Descriptor]
- king denborough syndrome [MeSH Supplementary Concept]
- symbol withdrawn MHS1 [HGNC gene]
Broader ORDO disease(s)
- Malignant hyperthermia of anesthesia [ORDO Disease]
CISMeF manual mappings
- Malignant hyperthermia of anesthesia [ORDO Disease]
Currated CISMeF NLP mapping
- Adult physical abuse [ICD-9 code]
- Fever malignant [MedDRA LLT]
- HYPERPYREXIA MALIGNANT [WHO-ART Preferred Term]
- HYPERTHERMIA MALIGNANT [WHO-ART Included Term]
- Hyperpyrexia malignant [MedDRA LLT]
- Hyperthermia malignant [MedDRA Preferred Term]
- Malignant Hyperthermia Syndrome [NCIt concept]
- Malignant fever [MeSH concept]
- Malignant hyperpyrexia [MedDRA LLT]
- Malignant hyperthermia [HRDO Sign]
- Malignant hyperthermia [HPO term]
- Malignant hyperthermia [MedDRA LLT]
- Malignant hyperthermia (disorder) [SNOMED CT concept]
- Malignant hyperthermia susceptibility type 1 [MeSH concept]
- Postprocedural fever [ICD-9 code]
- malignant fever [MeSH Supplementary Concept]
- malignant hyperthermia [Disease (Nov.)]
- malignant hyperthermia [DO Concept]
- malignant hyperthermia [MeSH Descriptor]
- malignant hyperthermia [MeSH concept]
- malignant hyperthermia susceptibility type 1 [MeSH Supplementary Concept]
False automatic mappings
- Marshall Islands [NCIt concept]
- Montserrat [NCIt concept]
Genes related to phenotype
- Ryanodine receptor 1 [OMIM gene]
HPO term(s)
- Abnormality of the coagulation cascade [HPO term]
- Autosomal dominant inheritance [HPO term]
- Elevated circulating creatine kinase concentration [HPO term]
- Hyperkalemia [HPO term]
- Hyperphosphatemia [HPO term]
- Hypotension [HPO term]
- Malignant hyperthermia [HPO term]
- Mixed respiratory and metabolic acidosis [HPO term]
- Myoglobinuria [HPO term]
- Rhabdomyolysis [HPO term]
- Rigidity [HPO term]
- Tachycardia [HPO term]
ORDO concept(s)
- King-Denborough syndrome [ORDO Disease]
- Malignant hyperthermia of anesthesia [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]
UMLS correspondences (same concept)
- Fever malignant [MedDRA LLT]
- HYPERPYREXIA MALIGNANT [WHO-ART Preferred Term]
- HYPERTHERMIA MALIGNANT [WHO-ART Included Term]
- Hyperpyrexia malignant [MedDRA LLT]
- Hyperthermia malignant [MedDRA Preferred Term]
- Malignant Hyperthermia Syndrome [NCIt concept]
- Malignant hyperpyrexia [MedDRA LLT]
- Malignant hyperpyrexia caused by anesthetic (disorder) [SNOMED CT concept]
- Malignant hyperthermia [MedDRA LLT]
- Malignant hyperthermia [HPO term]
- Malignant hyperthermia [HRDO Sign]
- Malignant hyperthermia [ICD-9 code]
- Malignant hyperthermia (disorder) [SNOMED CT concept]
- Malignant hyperthermia due to anaesthesia [ICD-10 Sub-category (who)]
- Malignant hyperthermia due to anesthesia [ICD-10 Sub-category]
- Malignant hyperthermia of anesthesia [ORDO Disease]
- Malignant hyperthermia susceptibility type 1 [MeSH concept]
- malignant hyperpyrexia due to anesthesia [SNOMED Notion]
- malignant hyperthermia [MeSH Descriptor]
- malignant hyperthermia [MeSH concept]
- malignant hyperthermia [DO Concept]
- malignant hyperthermia susceptibility type 1 [MeSH Supplementary Concept]

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