ORPHA:1048
Isolated anencephaly/exencephaly
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
127
53.6th percentile
Trials
0
Interventional, condition-specific
Researchers
574
Distinct authors in sample
Gene link
TRIM36
Limited
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare neural tube defect characterized by the absence of cranial vault and brain structures. This lethal is secondary to a failure to close the anterior neuropore during early embryonic development, leading to exencephaly (''open'' brain). The degeneration of the cerebral tissue is due to their exposure to the amniotic fluid and converts the exencephaly into anencephaly (absence of the brain).
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008791
- OMIM:206500
- UMLS:C5561928
Additional Mondo synonyms (2)
anencephaly 1 · isolated anencephaly/exencephaly
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Limited — TRIM36
- LiteraturePresent
127 matched papers (51 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialPartial
None under the specific name; 2 for broader category anencephaly
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?
Possibly — only limited evidence so far for TRIM36.
GenCC classification: Limited.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
127
127 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
127 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
51 in the last 10 years · high confidence · 53.6th percentile (publications denominator)
Phrase hits: 127 · MeSH hits: 0
Who's working on it?
574
Distinct author names in 127 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Browne ML3 papers · 2024
Congenital Malformations Registry, New York State Department of Health, Albany, NY; Department of Epidemiology and Biostatistics, School of Public Health, University at Albany, Rensselaer, NY.
Papers in Europe PMC - 02Howley MM3 papers · 2024
Congenital Malformations Registry, New York State Department of Health, Albany, NY. Electronic address: meredith.howley@health.ny.gov.
Papers in Europe PMC - 03Li Z3 papers · 2022
Institute of Reproductive and Child Health / Key Laboratory of Reproductive Health, National Health Commission of the People's Republic of China, Peking University, Beijing, 100191, People's Republic of China. lizw@bjmu.edu.cn.
Papers in Europe PMC - 04Romitti PA3 papers · 2021
Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, IA.
Papers in Europe PMC - 05Van Zutphen AR3 papers · 2024
Department of Epidemiology and Biostatistics, The University at Albany, State University of New York, Rensselaer, New York.
Papers in Europe PMC - 06Côté-Arsenault D2 papers · 2016
University of North Carolina Greensboro, USA. Electronic address: d_cotear@uncg.edu.
Papers in Europe PMC - 07Davies MA2 papers · 2024
Centre for Infectious Disease Epidemiology & Research, School of Public Health, University of Cape Town, Cape Town, South Africa.
Papers in Europe PMC - 08Denney-Koelsch E2 papers · 2021
Division of Palliative Care, University of Rochester Medical Center, USA.
Papers in Europe PMC - 09Finnell RH2 papers · 2011Papers in Europe PMC
- 10Fisher SC2 papers · 2024
New York State Department of Health, Birth Defects Registry, Albany, New York, USA.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 2 trials are registered for anencephaly, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
2 interventional trials matched anencephaly, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: anencephaly
2
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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.
"Isolated anencephaly/exencephaly" OR "anencephaly 1"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Isolated anencephaly/exencephaly" OR "anencephaly 1" OR "TRIM36"
Recall-expansion terms: TRIM36
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"anencephaly"
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
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 2026-07-26T16:16:10.072Z