Preferred Name |
BUTYRYLCHOLINESTERASE DEFICIENCY |
|
Synonyms |
PSEUDOCHOLINESTERASE DEFICIENCY |
|
ID |
http://purl.bioontology.org/ontology/OMIM/617936 |
|
altLabel |
PSEUDOCHOLINESTERASE DEFICIENCY BUTYRYLCHOLINESTERASE DEFICIENCY, FLUORIDE-RESISTANT, JAPANESE TYPE APNEA, POSTANESTHETIC BCHED HYPOCHOLINESTERASEMIA, FLUORIDE-RESISTANT, JAPANESE TYPE ACHOLINESTERASEMIA SUXAMETHONIUM SENSITIVITY |
|
cui |
C0268379 C1867467 C1867469 C1622434 C1283400 C1867470 C1867468 |
|
Gene Locus |
3q26.1-q26.2 |
|
Gene Symbol |
CHE1 BCHE BCHED |
|
Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU071846 |
|
MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
notation |
617936 |
|
OMIM Entry Type |
3 |
|
OMIM MimType Value |
pound |
|
prefLabel |
BUTYRYLCHOLINESTERASE DEFICIENCY |
|
Scope Statement |
Caused by mutation in the butyrylcholinesterase gene (BCHE, 177400.0001) [MOLECULAR BASIS] Decreased butyrylcholinesterase activity can be secondary to malnutrition, pregnancy, malignancy, renal disease, and liver disease [MISCELLANEOUS] |
|
tui |
T046 T047 |