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ORPHA:2162

Holoprosencephaly

low confidenceDisorder

Also known as: HPE

Publications

47,620

Trials

0

Interventional, condition-specific

Researchers

1,258

Distinct authors in sample

Gene link

DISP1, GAS1, PTCH1

Strong

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

A rare complex brain characterized by incomplete cleavage of the prosencephalon, and affecting both the forebrain and face and resulting in neurological manifestations and facial anomalies of variable severity.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (1)

holoprosencephaly sequence

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 matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — DISP1, GAS1, PTCH1, SCN7A

  2. LiteraturePresent

    47,620 matched papers (30,951 in last 10 years) Source

  3. Phenotype characterisedPresent

    794 HPO annotations (e.g. Absent lacrimal punctum; Solitary median maxillary central incisor; Cleft palate) Source

  4. Animal modelPresent

    28 genotype models (Mus musculus, Danio rerio) Source

  5. Orphan designationNot found

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

  6. Interventional trialNot found

    No matched interventional trial under our ClinicalTrials.gov rules

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 (DISP1, GAS1, PTCH1…).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

794

Associated phenotypes · MONDO:0016296

  • Absent lacrimal punctum
  • Solitary median maxillary central incisor
  • Cleft palate
  • Anophthalmia
  • Hypoplasia of the maxilla

Showing 5 of 794 — open Monarch for the full list.

Animal models (Monarch / Alliance)

28

Model associations linked to this Mondo ID

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)

15 associated chemicals · 38 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • 2-(5-benzo(1,3)dioxol-5-yl-2-tert-butyl-3H-imidazol-4-yl)-6-methylpyridine hydrochloride · marker/mechanism
  • 3-(2-hydroxy-4-(1,1-dimethylheptyl)phenyl)-4-(3-hydroxypropyl)cyclohexanol · marker/mechanism
  • Acaricides · marker/mechanism
  • Amphetamine · marker/mechanism
  • Cannabidiol · marker/mechanism
  • cyclopamine · marker/mechanism
  • Dronabinol · marker/mechanism
  • Ethanol · marker/mechanism
  • HhAntag691 · marker/mechanism
  • HU 211 · marker/mechanism
  • Insect Repellents · marker/mechanism
  • Insecticides · marker/mechanism

Pathways: Hedgehog signaling pathway; TGF-beta signaling pathway; Axon guidance; Hippo signaling pathway; Signaling pathways regulating pluripotency of stem cells; Pathways in cancer; Proteoglycans in cancer; Basal cell carcinoma

MyDisease.info · MONDO:0016296

Literature

Is anyone studying this?

47,620

47,620 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.

47,620 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).

30,951 in the last 10 years · low confidence

Phrase hits: 7,745 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,258

Distinct author names in 200 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
    Zhang H6 papers · 2026

    Department of Medical Imaging, The First Affiliated Hospital of Xi'an Jiaotong University, Xi'an, Shaanxi, 710061, China.

    Papers in Europe PMC
  2. 02
    Wang J5 papers · 2026

    Department of Biopharmaceutics, Zhejiang Provincial Engineering Research Center of New Technologies and Applications for Targeted Therapy of Major Diseases, College of Life Science and Medicine, Zhejiang Sci-Tech University, Hangzhou, China.

    Papers in Europe PMC
  3. 03
    Bulk J4 papers · 2025

    Department of Molecular Embryology, Institute of Anatomy and Cell Biology, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  4. 04
    Heermann S4 papers · 2025

    Department of Molecular Embryology, Institute of Anatomy and Cell Biology, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  5. 05
    Kyrychenko V4 papers · 2025

    Department of Molecular Embryology, Institute of Anatomy and Cell Biology, Faculty of Medicine, University of Freiburg, Freiburg, Germany.

    Papers in Europe PMC
  6. 06
    Luo J4 papers · 2026

    Department of Plastic and Reconstructive Surgery, Craniofacial Research Center, Chang Gung Memorial Hospital, Chang Gung University, Taoyuan, Taiwan.

    Papers in Europe PMC
  7. 07
    Jiang Y3 papers · 2025

    Department of Obstetrics and Gynecology, Peking Union Medical College Hospital, Peking Union Medical College & Chinese Academy of Medical Sciences, Beijing, China.

    Papers in Europe PMC
  8. 08
    Wang L3 papers · 2026

    Fetal Medicine Center, Jiaxing Maternity and Child Health Care Hospital, Jiaxing, Zhejiang, China.

    Papers in Europe PMC
  9. 09
    Wang X3 papers · 2026

    Department of Oral and Maxillofacial Plastic and Traumatic Surgery, Beijing Stomatological Hospital, Capital Medical University, Beijing, China.

    Papers in Europe PMC
  10. 10
    Wang Y3 papers · 2026

    Institute of Dermatology, Shanghai Jiaotong University School of Medicine, Shanghai 200092, China.

    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. 4 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.

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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

Observational and natural-history studies

4 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

None of the matched observational studies is currently listed as recruiting.

Open the complete matched 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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).

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 Holoprosencephaly — 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.

("Holoprosencephaly" OR "holoprosencephaly sequence") OR ("DISP1" OR "DISP1 syndrome" OR "DISP1-related" OR "GAS1" OR "GAS1 syndrome" OR "GAS1-related" OR "PTCH1" OR "PTCH1 syndrome" OR "PTCH1-related")

Run this search on Europe PMC

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

"Holoprosencephaly" OR "holoprosencephaly sequence"

Study-type breakdown: 0 interventional · 4 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: HPE

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T19:20:06.443Z