Cytoscape Web
Click node...


6 OMIM references -
2 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
4 signs/symptoms
Malignant hyperthermia
Central core disease

CACNA1S RYR1
RYR1


COMMON
GENES
RYR1


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Malignant hyperthermia
CACNA1S RYR1
Central core disease



Malignant hyperthermia
Central core disease

Synonym(s):
- Hyperthermia of anesthesia
- Malignant hyperpyrexia
- Pharmacogenetic myopathy of anesthesia

Synonym(s):
(no synonyms)

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

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

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

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

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)