MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 4

General Information (adopted from Orphanet):

Synonyms, Signs: MHS4
Number of Symptoms 6
OrphanetNr:
OMIM Id: 600467
ICD-10:
UMLs:
MeSH:
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: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0002047) Malignant hyperthermia 20 / 7739
2
 (HPO:0001941) Acidosis 9 / 7739
3
 (HPO:0003201) Rhabdomyolysis 27 / 7739
4
 (OMIM) Masseter or generalized muscle contracture 1 / 7739
5
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
 (MedDRA:10021143) [DEL] Hypoxia 5 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: