ODCs

Cytoscape Web

Click node...

Central core disease

1 OMIM reference -
1 associated gene
4 signs/symptoms

COMMON GENES: 1
PROTEIN INTERACTIONS: 1

Malignant hyperthermia

6 OMIM references -
2 associated genes
No signs/symptoms info

Central core disease

Malignant hyperthermia

RYR1	(UniProt - OMIM)		CACNA1S	(UniProt - OMIM)
			RYR1	(UniProt - OMIM)


COMMON GENES	RYR1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RYR1	(0.62)	CACNA1S

Citations in the biomedical literature:

Central core disease		Malignant hyperthermia
	Synonym(s): (no synonyms)		Synonym(s): - Hyperthermia of anesthesia - Malignant hyperpyrexia - Pharmacogenetic myopathy of anesthesia

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Injury, poisoning and certain other consequences of external causes -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: variable Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 6 OMIM references - 1 MeSH reference: D008305

Central core disease
	Very frequent - Abnormal muscle biopsy / muscle enzymes / CPK / LDH / aldolase / creatin phosphokinase - Autosomal dominant inheritance - Hypotonia - Myopathy
Malignant hyperthermia
(no data available)