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ORPHA:132

Hereditary butyrylcholinesterase deficiency

high confidenceDisorder

Also known as: Hereditary pseudocholinesterase deficiency

Publications

90,138

99.5th percentile

Trials

1

Interventional, condition-specific

Researchers

1,241

Distinct authors in sample

Gene link

BCHE

Definitive

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Butyrylcholinesterase (BChE) deficiency is a 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 deficiency.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (2)

apnea, postanesthetic, susceptibility to, due to BCHE deficiency · butyrylcholinesterase deficiency

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

4/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — BCHE

  2. LiteraturePresent

    90,138 matched papers (45,214 in last 10 years) Source

  3. Phenotype characterisedPresent

    10 HPO annotations (e.g. Abnormal circulating enzyme concentration or activity; Respiratory failure; Congestive heart failure) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 matched on ClinicalTrials.gov

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Yes — we know a specific gene responsible (BCHE).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

10

Associated phenotypes · MONDO:0015270

  • Abnormal circulating enzyme concentration or activity
  • Respiratory failure
  • Congestive heart failure
  • Abnormality of the liver
  • Paralysis

Showing 5 of 10 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

Monarch fetch 2026-07-27

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

2 associated chemicals · 11 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Mivacurium · marker/mechanism
  • Succinylcholine · marker/mechanism

Pathways: Neurotransmitter Clearance In The Synaptic Cleft; Transmission across Chemical Synapses; Neuronal System; Metabolism; Synthesis of PC; Glycerophospholipid biosynthesis; Phospholipid metabolism; Peptide hormone metabolism

MyDisease.info · MONDO:0015270

Literature

Is anyone studying this?

90,138

90,138 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

90,138 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

45,214 in the last 10 years · high confidence · 99.5th percentile (publications denominator)

Phrase hits: 79 · MeSH hits: 2

Open Europe PMC search

Who's working on it?

1,241

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Li Q6 papers · 2026

    School of Basic Medicine, Qingdao University, Qingdao, Shandong, 266071, People's Republic of China.

    Papers in Europe PMC
  2. 02
    Şenol H6 papers · 2026

    Department of Pharmaceutical Chemistry, Faculty of Pharmacy, Bezmialem Vakif University, 34093, Fatih, Istanbul, Turkey.

    Papers in Europe PMC
  3. 03
    Zengin G6 papers · 2026

    Department of Biology, Faculty of Science, Selçuk University, Konya, Türkiye.

    Papers in Europe PMC
  4. 04
    Kumar S5 papers · 2026

    Department of Pharmaceutical Chemistry, Amrita School of Pharmacy, Amrita Vishwa Vidyapeetham, AIMS Health Sciences Campus Kochi 682 041 India bijomathew@aims.amrita.edu bijovilaventgu@gmail.com.

    Papers in Europe PMC
  5. 05
    Li J5 papers · 2026

    School of Chemistry, Xi'an Jiaotong University, Xianning West Road, Xi'an, 710049, China.

    Papers in Europe PMC
  6. 06
    Liu Y5 papers · 2026

    Basic Medicine College of Xiangnan University, Chenzhou, 423000, China.

    Papers in Europe PMC
  7. 07
    Demir Y4 papers · 2026

    Department of Pharmacy Services, Nihat Delibalta Göle Vocational High School, Ardahan University, 75700 Ardahan, Türkiye; Department of Chemistry, Faculty of Science, Ataturk University, 25240 Erzurum, Türkiye.

    Papers in Europe PMC
  8. 08
    Shafiq Z4 papers · 2026

    Institute of Chemical Sciences, Bahauddin Zakariya University, Multan, 60800, Pakistan. zahidshafiq@bzu.edu.pk.

    Papers in Europe PMC
  9. 09
    Wang J4 papers · 2026

    State Key Laboratory of Discovery and Utilization of Functional Components in Traditional Chinese Medicine, Guizhou Provincial Key Laboratory of Innovation and Manufacturing for Pharmaceuticals, Guizhou Provincial Engineering Technology Research Center for Chemical Drug R&D, Guizhou Medical University, Guiyang 550004, China.

    Papers in Europe PMC
  10. 10
    Wang K4 papers · 2026

    Hubei Province Key Laboratory of Biotechnology of Chinese Traditional Medicine, College of Health Science and Engineering, Hubei University, Wuhan, 430062, China. Electronic address: kaiwang@hubu.edu.cn.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 9 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 39 · after dedupe 38 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 38 · fetched 2026-07-27

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Hereditary butyrylcholinesterase deficiency — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Hereditary butyrylcholinesterase deficiency" OR "Hereditary pseudocholinesterase deficiency" OR "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" OR "butyrylcholinesterase deficiency") OR (MESH:"Butyrylcholinesterase deficiency") OR ("BCHE" OR "BCHE syndrome" OR "BCHE-related")

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Butyrylcholinesterase deficiency

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Hereditary butyrylcholinesterase deficiency" OR "Hereditary pseudocholinesterase deficiency" OR "apnea, postanesthetic, susceptibility to, due to BCHE deficiency" OR "butyrylcholinesterase deficiency"

Interventional trials matched via: both (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T02:11:30.371Z