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ORPHA:3157

Septo-optic dysplasia spectrum

low confidenceDisorder

Also known as: De Morsier syndrome · SOD · Septo-optic dysplasia

Publications

8,703

Trials

3

Interventional, condition-specific

Researchers

1,011

Distinct authors in sample

Gene link

HESX1

Strong

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

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 (3)

septo-optic dysplasia · septo-optic dysplasia sequence · septooptic dysplasia

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.”

5/6 stages with a signal

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

  1. Gene identifiedPresent

    Strong — HESX1

  2. LiteraturePresent

    8,703 matched papers (2,899 in last 10 years) Source

  3. Phenotype characterisedPresent

    44 HPO annotations (e.g. Anterior pituitary hypoplasia; Short stature; Agenesis of corpus callosum) Source

  4. Animal modelPresent

    4 genotype models (Mus musculus) Source

  5. Orphan designationNot found

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

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

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 (HESX1).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

44

Associated phenotypes · MONDO:0008428

  • Anterior pituitary hypoplasia
  • Short stature
  • Agenesis of corpus callosum
  • Short finger
  • Visual impairment

Showing 5 of 44 — open Monarch for the full list.

Animal models (Monarch / Alliance)

4

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

8,703

8,703 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.

8,703 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).

2,899 in the last 10 years · low confidence

Phrase hits: 1,704 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,011

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
    Salman MS11 papers · 2026

    Section of Pediatric Neurology, Winnipeg Children's Hospital and Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  2. 02
    Ruth CA8 papers · 2026

    Section of Neonatology, Department of Paediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  3. 03
    Cullingford DJ5 papers · 2026

    Paediatric Endocrinology Fellow, Department of Endocrinology and Diabetes, Perth Children’s, Hospital, Perth, Western Australia.

    Papers in Europe PMC
  4. 04
    Siafarikas A5 papers · 2026

    Paediatric Endocrinologist, Department of Endocrinology and Diabetes, Perth Children’s Hospital, Perth, Western Australia, Clinical Associate Professor, Division of Paediatrics, Faculty of Health & Medical Sciences, University of Western Australia, Perth, WA, Australia, Clinical Professor, Institute of Health Research, University of Notre Dame, Fremantle, WA., The Centre for Child Health Research, Telethon Kids Institute, University of Western Australia, Perth, WA, Australia.

    Papers in Europe PMC
  5. 05
    Yogendran MS5 papers · 2026

    Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  6. 06
    Abraham MB4 papers · 2026

    Department of Endocrinology and Diabetes, Perth Children's Hospital, Nedlands, WA 6009, Australia.

    Papers in Europe PMC
  7. 07
    Choong CSY4 papers · 2026

    Department of Endocrinology and Diabetes, Perth Children's Hospital, Nedlands, WA 6009, Australia.

    Papers in Europe PMC
  8. 08
    Hossain S4 papers · 2024

    Department of Mathematics and Statistics, University of Winnipeg, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  9. 09
    Lix LM4 papers · 2026

    Department of Community Health Sciences, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.

    Papers in Europe PMC
  10. 10
    Blackmore AM3 papers · 2025

    The Centre for Child Health Research, The Kids Research Institute Australia, University of Western Australia, Nedlands, WA 6009, Australia.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Observational and natural-history studies

1 observational study matches 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · 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 (1)

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 Septo-optic dysplasia spectrum — 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.

("Septo-optic dysplasia spectrum" OR "De Morsier syndrome" OR "Septo-optic dysplasia" OR "septo-optic dysplasia sequence" OR "septooptic dysplasia") OR ("HESX1" OR "HESX1 syndrome" OR "HESX1-related")

Run this search on Europe PMC

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

"Septo-optic dysplasia spectrum" OR "De Morsier syndrome" OR "Septo-optic dysplasia" OR "septo-optic dysplasia sequence" OR "septooptic dysplasia"

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

Study-type breakdown: 3 interventional · 1 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: SOD

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (8703) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T22:20:22.059Z