Details of Disease

General Information of Disease (ID: DISNADTC)

Disease Name King-Denborough syndrome
Synonyms anesthetic-induced malignant hyperpyrexia in children; King Denborough syndrome; Kousseff Nichols syndrome; Noonan like contracture myopathy hyperpyrexia; Koussef-Nichols syndrome
Definition
A rare genetic non-dystrophic myopathy characterized by the triad of congenital myopathy, dysmorphic features and susceptibility to malignant hyperthermia. Patients present with a wide phenotypic range, including delayed motor development, muscle weakness and fatigability, ptosis and facies myopathica (with or without creatine kinase elevations), skeletal abnormalities (e.g. short stature, scoliosis, kyphosis, lumbar lordosis and pectus carinatum/excavatum), mild dysmorphic facial features (e.g. hypertelorism, down-slanting palpebral fissures, epicanthic folds, low set ears, micrognathia), webbing of the neck, cryptorchidism, and a susceptibility to malignant hyperthermia and/or rhabdomyolysis due to intensive physical strain, viral infection or statin use.
Disease Hierarchy
DIS7667R: Multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
DIS2BIP8: Congenital nervous system disorder
DISD715V: Hereditary neurological disease
DISIRF54: RYR1-related myopathy
DISNADTC: King-Denborough syndrome
Disease Identifiers
MONDO ID
MONDO_0020485
MESH ID
C536883
UMLS CUI
C1840365
OMIM ID
619542
MedGen ID
327082
SNOMED CT ID
764957003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 2 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
RYR1 TTU5CIX Supportive Autosomal dominant [1]
RYR1 TTU5CIX Strong Biomarker [2]
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This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
RYR1 OTWUB65S Supportive Autosomal dominant [1]
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References

1 King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord. 2011 Jun;21(6):420-7. doi: 10.1016/j.nmd.2011.03.006. Epub 2011 Apr 22.
2 Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches.Neurotherapeutics. 2018 Oct;15(4):885-899. doi: 10.1007/s13311-018-00677-1.