loading...| Preferred Name |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 |
|
| Synonyms |
MH |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/145600 |
|
| altLabel |
MH MHS HYPERTHERMIA OF ANESTHESIA HYPERPYREXIA, MALIGNANT MHS1 |
|
| cui |
C0024591 C5779784 C2930980 |
|
| Gene Locus |
19q13.1 |
|
| Gene Symbol |
RYR1 MHS KDS CMYP1A CMYP1B |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036870 http://purl.bioontology.org/ontology/OMIM/MTHU017748 http://purl.bioontology.org/ontology/OMIM/MTHU017749 http://purl.bioontology.org/ontology/OMIM/MTHU036871 http://purl.bioontology.org/ontology/OMIM/MTHU013793 http://purl.bioontology.org/ontology/OMIM/MTHU008649 http://purl.bioontology.org/ontology/OMIM/MTHU005117 http://purl.bioontology.org/ontology/OMIM/MTHU036844 http://purl.bioontology.org/ontology/OMIM/MTHU015481 http://purl.bioontology.org/ontology/OMIM/MTHU017755 http://purl.bioontology.org/ontology/OMIM/MTHU004871 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| Moved from |
102990 |
|
| notation |
145600 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MALIGNANT HYPERTHERMIA, SUSCEPTIBILITY TO, 1 |
|
| Scope Statement |
Precipitated by general anesthesia [MISCELLANEOUS] Caused by mutations in the ryanodine receptor gene (RYR1, 180901.0001) [MOLECULAR BASIS] Incidence of MH in anesthetized adults is 1 in 50,000-100,000 [MISCELLANEOUS] Heterogeneous disorder [MISCELLANEOUS] Elevated body temperatures to 42 degrees celsius [MISCELLANEOUS] Incidence of MH in anesthetized children is 1 in 15,000 [MISCELLANEOUS] |
|
| tui |
T046 T033 |