King-Denborough syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: HYPERPYREXIA, MALIGNANT
KING-DENBOROUGH SYNDROME, INCLUDED
MH KING SYNDROME, INCLUDED
HYPERTHERMIA OF ANESTHESIA
MHS1
MHS
Koussef-Nichols syndrome
Number of Symptoms 13
OrphanetNr: 99741
OMIM Id: 145600
ICD-10: G71.2
UMLs: C1840365
MeSH: C536883
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital myopathy
 -Rare genetic disease
 -Rare neurologic disease
Genetic malformation syndrome with short stature
 -Rare genetic disease
Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Malformation syndrome with short stature
 -Rare developmental defect during embryogenesis
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
(HPO:0002913) Myoglobinuria 22 / 7739
2
(HPO:0002063) Rigidity 92 / 7739
3
(HPO:0011675) Arrhythmia 226 / 7739
4
(HPO:0001649) Tachycardia 53 / 7739
5
(HPO:0002615) Hypotension 52 / 7739
6
(HPO:0003256) Abnormality of the coagulation cascade 19 / 7739
7
(HPO:0002153) Hyperkalemia 25 / 7739
8
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
9
(HPO:0002905) Hyperphosphatemia 18 / 7739
10
(HPO:0001945) Fever 218 / 7739
11
(HPO:0005967) Mixed respiratory and metabolic acidosis 2 / 7739
12
(HPO:0003201) Rhabdomyolysis 27 / 7739
13
(OMIM) Diagnosis by exposing muscle biopsy to caffeine and/or halothane 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM Denborough (1977) developed an in vitro contracture test (IVCT) for malignant hyperpyrexia using a small segment of skeletal muscle from patients. Caffeine, halothane, succinylcholine, and increased potassium induced exaggerated contractions. A dilantin-like drug inhibited the halothane response and ...
Clinical Description OMIM Denborough et al. (1962) observed a family in which 11 of 38 persons who had general anesthesia developed explosive hyperthermia and died. The 11 included father-daughter, mother-son, and mother-daughter combinations. Denborough et al. (1970, 1970) found that malignant ...
Molecular genetics OMIM In several porcine breeds that exhibited inheritance of malignant hyperthermia, Otsu et al. (1991) and Fujii et al. (1991) identified an A615R mutation in the Ryr1 gene. In 1 of 35 Canadian families with malignant hyperthermia, Gillard et ...
Population genetics OMIM Nelson and Flewellen (1983) cited a frequency of malignant hyperthermia of 1 in 15,000 anesthetic administrations to children and 1 in 50,000 to 100,000 in adults.

The international incidence of malignant hyperthermia was stated by Hogan ...