ORPHA:3157
Septo-optic dysplasia spectrum
Also known as: De Morsier syndrome · SOD · Septo-optic dysplasia
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
1,704
Trials
3
Interventional, condition-specific
Researchers
1,011
Distinct authors in sample
Gene link
HESX1
Strong
Readiness
3/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008428
- MeSH:D025962
- OMIM:182230
- UMLS:C0338503
- NCIT:C85063
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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — HESX1
- LiteraturePresent
1,704 matched papers (868 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 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)
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?
1,704
1,704 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=5449) is 41.
1,704 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).
868 in the last 10 years · low confidence
Phrase hits: 1,704 · MeSH hits: 0
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.
- 01Salman 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 - 02Ruth 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 - 03Cullingford DJ5 papers · 2026
Paediatric Endocrinology Fellow, Department of Endocrinology and Diabetes, Perth Children’s, Hospital, Perth, Western Australia.
Papers in Europe PMC - 04Siafarikas 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 - 05Yogendran 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 - 06Abraham MB4 papers · 2026
Department of Endocrinology and Diabetes, Perth Children's Hospital, Nedlands, WA 6009, Australia.
Papers in Europe PMC - 07Choong CSY4 papers · 2026
Department of Endocrinology and Diabetes, Perth Children's Hospital, Nedlands, WA 6009, Australia.
Papers in Europe PMC - 08Hossain S4 papers · 2024
Department of Mathematics and Statistics, University of Winnipeg, Winnipeg, Manitoba, Canada.
Papers in Europe PMC - 09Lix 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 - 10Blackmore 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 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
low confidence · 85.1th 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.
- NCT06760546·RECRUITING·A Trial of Setmelanotide in Patients With Congenital Hypothalamic Obesity (Sub-study of NCT05774756)
Conditions: Hypothalamic Obesity · Multiple Pituitary Hormone Deficiency Genetic Form · Septo-Optic Dysplasia · Optic Nerve Hypoplasia·Matched via name phrase
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.
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.
"Septo-optic dysplasia spectrum" OR "De Morsier syndrome" OR "Septo-optic dysplasia" OR "septo-optic dysplasia sequence" OR "septooptic dysplasia"
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" OR "HESX1"
Recall-expansion terms: HESX1
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: suspect — strategies attempted: phrase, recall-expansion; 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 (1704) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T22:20:22.059Z