loading...| Preferred Name |
Butyrylcholinesterase deficiency |
|
| Synonyms |
Acylcholine acylhydrolase deficiency |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537417 |
|
| altLabel |
Acylcholine acylhydrolase deficiency Succinylcholine Sensitivity Suxamethonium Sensitivity Pseudocholinesterase deficiency Apnea, Postanesthetic Pseudocholinesterase E1 deficiency Cholinesterase 2 Deficiency |
|
| cui |
C0268379 C1622434 C1283400 C1867468 |
|
| Has mapping qualifier | ||
| HM |
D002091/Q000172 D001049 D008661 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D008661 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
51 |
|
| MMR |
20150817 |
|
| notation |
C537417 |
|
| prefLabel |
Butyrylcholinesterase deficiency |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal recessive condition caused by mutations in the BCHE gene. Affected individuals exhibit prolonged apnea after administration of the muscle relaxant SUXAMETHONIUM in connection with surgical ANESTHESIA. However,since the activity of pseudocholinesterase in serum is low and its substrate behavior is atypical, there are no other symptoms in the absence of relaxant. OMIM: 177400 |
|
| TERMUI |
T737353 T737351 T737352 T742530 T742531 T742527 T737356 T737354 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T046 T047 |