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ORPHA:1048

Isolated anencephaly/exencephaly

high confidenceDisorder

Publications

664

83th percentile

Trials

0

Interventional, condition-specific

Researchers

574

Distinct authors in sample

Gene link

TRIM36

Limited

Readiness

4/6

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).

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Limited — TRIM36

  2. LiteraturePresent

    664 matched papers (483 in last 10 years) Source

  3. Phenotype characterisedPresent

    4 HPO annotations (e.g. Primary adrenal insufficiency; Anencephaly; Spina bifida) 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 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)

4

Associated phenotypes · MONDO:0008791

  • Primary adrenal insufficiency
  • Anencephaly
  • Spina bifida

Showing 3 of 4 — 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 2026-07-29

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

664

664 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

664 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).

483 in the last 10 years · high confidence · 83th percentile (publications denominator)

Phrase hits: 127 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Browne 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
  2. 02
    Howley 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
  3. 03
    Li 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
  4. 04
    Romitti PA3 papers · 2021

    Department of Epidemiology, College of Public Health, University of Iowa, Iowa City, IA.

    Papers in Europe PMC
  5. 05
    Van 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
  6. 06
    Côté-Arsenault D2 papers · 2016

    University of North Carolina Greensboro, USA. Electronic address: d_cotear@uncg.edu.

    Papers in Europe PMC
  7. 07
    Davies 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
  8. 08
    Denney-Koelsch E2 papers · 2021

    Division of Palliative Care, University of Rochester Medical Center, USA.

    Papers in Europe PMC
  9. 09
    Finnell RH2 papers · 2011
    Papers in Europe PMC
  10. 10
    Fisher 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

high confidence · 38.6th 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.

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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · dropped 0 · fetched 2026-07-29

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).

Uncertain / not reviewed (5)

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 Isolated anencephaly/exencephaly — 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.

("Isolated anencephaly/exencephaly" OR "anencephaly 1") OR ("TRIM36" OR "TRIM36 syndrome" OR "TRIM36-related")

Run this search on Europe PMC

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

"Isolated anencephaly/exencephaly" OR "anencephaly 1"

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

Parent-category trials query:

"anencephaly"

Query health: ok — strategies attempted: phrase; 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