Hereditary butyrylcholinesterase deficiency
Synonyms: Hereditary pseudocholinesterase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Butyrylcholinesterase (BChE) deficiency is a metabolic disorder characterised by prolonged apnoea after the use of certain anaesthetic drugs, including the muscle relaxants succinylcholine or mivacurium and other ester local anaesthetics. The duration of the prolonged apnoea varies significantly depending on the extent of the enzyme deficiency.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary butyrylcholinesterase deficiency | Hereditary pseudocholinesterase deficiency |
| fr | Déficit héréditaire en butyrylcholinestérase | Déficit héréditaire en pseudocholinestérase |
| de | Butyrylcholinesterase-Mangel, hereditärer | Pseudocholinesterase-Mangel, hereditärer |
| es | Deficiencia de butiril-colinesterasa hereditaria | Deficiencia de pseudocolinesterasa hereditaria |
| it | Deficit di butirrilcolinesterasi ereditario | Deficit di pseudocolinesterasi |
| nl | Hereditaire deficiëntie van butyrylcholinesterase | Erfelijke deficiëntie van butyrylcholinesterase · Hereditaire deficiëntie van pseudocholinesterase |
| pt | Deficiência de butirilcolinesterase hereditária | Deficiência de pseudocolinesterase hereditária |
| pl | Niedobór butyrylocholinesterazy | = en |
| cs | Deficit butyrylcholinesterázy | = en |
| uk | Спадковий дефіцит бутирилхолінестерази | Спадковий дефіцит псевдохолінестерази |
| zh | 丁酰胆碱酯酶缺乏 | 假性胆碱脂酶缺乏 |
| tr | Butirilkolinesteraz eksikliği | Psödokolinesteraz eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617936 | E | validated | |
| ICD-10 | E88.0 | NTBT | index | validated |
| ICD-11 | 5C59.Y | NTBT | index | validated |
| MONDO | 0015270 | E | validated | |
| MeSH | C537417 | E | validated | |
| UMLS | C5880943 | E | validated | |
| GARD | 7482 | E | validated | |
| MedDRA | 10062674 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:79219Metabolic disease involving other neurotransmitter deficiency
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BCHE | Disease-causing germline mutation(s) in | Assessed | HGNC:983 | ENSG00000114200 | 177400 | 3q26.1 | butyrylcholinesterase | 25054547[PMID]_25448037[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | — | Europe | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
9 annotations · validated 2019-06-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| Frequent (79-30%) | ||
| HP:0002878 | Respiratory failure | |
| Very rare (<4-1%) | ||
| HP:0001392 | Abnormality of the liver | |
| HP:0031035 | Chronic infection | |
| HP:0001635 | Congestive heart failure | |
| HP:0001658 | Myocardial infarction | |
| HP:0002664 | Neoplasm | |
| HP:0003470 | Paralysis | |
| HP:0004887 | Respiratory failure requiring assisted ventilation | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30578021[PMID]_24478828[PMID]_31082076[PMID]_30600548[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/132
- This record as JSON: /data/d/132.json