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6 OMIM references -
2 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Malignant hyperthermia
Hereditary proximal myopathy with early respiratory failure

CACNA1S TTN
RYR1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RYR1
(0.63)
TTN



Citations in the biomedical literature:


Malignant hyperthermia
CACNA1S RYR1
Hereditary proximal myopathy with early respiratory failure
TTN



Malignant hyperthermia
Hereditary proximal myopathy with early respiratory failure

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

Synonym(s):
- ADMERF
- Edström Myopathy
- HIBM-ERF
- Hereditary inclusion body myopathy with early respiratory failure
- Myofibrillar myopathy with early respiratory failure

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 / 1 000 000
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant

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

No signs/symptoms info available.