ORPHA:1672
Diencephalic syndrome
Also known as: Diencephalic cachexia · Diencephalic syndrome of childhood · Diencephalic syndrome of emaciation · Russell diencephalic cachexia · Russell syndrome
Publications
2,523
Trials
1
Interventional, condition-specific
Researchers
1,263
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesia and euphoria, in the presence of hypothalamic tumors.
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:0015663
- UMLS:C0342436
- NCIT:C116955
Additional Mondo synonyms (4)
diencephalic cachexia · diencephalic syndrome of childhood · diencephalic syndrome of emaciation · diencephalic syndrome of infancy
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,523 matched papers (1,345 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
1 matched on ClinicalTrials.gov
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
2,523
2,523 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.
2,523 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).
1,345 in the last 10 years · low confidence
Phrase hits: 2,523 · MeSH hits: 0
Who's working on it?
1,263
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.
- 01Eggermann T9 papers · 2026
Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Papers in Europe PMC - 02Netchine I9 papers · 2026
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpital Armand Trousseau, Endocrinologie Moléculaire et Pathologies d'Empreinte, Paris, France.
Papers in Europe PMC - 03van Santen HM8 papers · 2026
Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, UMC Utrecht, Utrecht, The Netherlands, h.m.vansanten@umcutrecht.nl.
Papers in Europe PMC - 04Russo S7 papers · 2025
Cytogenetic and Molecular Genetics Laboratory, IRCCS, Istituto Auxologico Italiano, Milano, Italy.
Papers in Europe PMC - 05Giabicani E6 papers · 2026
Sorbonne Université, INSERM, Centre de Recherche Saint-Antoine, APHP, Hôpital Armand Trousseau, Endocrinologie Moléculaire et Pathologies d'Empreinte, Paris, France.
Papers in Europe PMC - 06Davies JH5 papers · 2025
Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton SO16 6YD, UK.
Papers in Europe PMC - 07Kagami M5 papers · 2025
Department of Molecular Endocrinology, National Research Institute for Child Health and Development, 2-10-1 Okura, Setagaya-Ku, Tokyo, 157-8535, Japan. kagami-ms@ncchd.go.jp.
Papers in Europe PMC - 08Schouten-van Meeteren AYN5 papers · 2025
Department of Neuro-Oncology, Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, The Netherlands.
Papers in Europe PMC - 09Vimercati A5 papers · 2025
Experimental Research Laboratory of Medical Cytogenetics and Molecular Genetics, IRCCS Istituto Auxologico Italiano, Via Ariosto 13, Milano, 20145, Italy.
Papers in Europe PMC - 10Bakker B4 papers · 2025
Department of Pediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht, Netherlands.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
low confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
Observational and natural-history studies
3 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.
Recruiting or not-yet-recruiting
- NCT05945576·RECRUITING·IDMet (RaDiCo Cohort) (RaDiCo-IDMet)
Conditions: Silver Russell Syndrome · Beckwith-Wiedemann Syndrome · Transient Neonatal Diabetes Mellitus · Angelman Syndrome·Matched via name phrase
- NCT06878716·NOT YET RECRUITING·Silver Russell Syndrome, Parental Fertility and Assisted Reproductive Technology
Conditions: Syndrome, Russell Silver·Matched via name phrase
General rare disease registries you may be eligible for
These studies enroll across many rare conditions. They are not counted as evidence that anyone is studying this specific disease.
- NCT01793168·RECRUITING·Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
Conditions: Rare Disorders · Undiagnosed Disorders · Disorders of Unknown Prevalence · Cornelia De Lange Syndrome
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.
"Diencephalic syndrome" OR "Diencephalic cachexia" OR "Diencephalic syndrome of childhood" OR "Diencephalic syndrome of the childhood" OR "Diencephalic syndrome of emaciation" OR "Diencephalic syndrome of the emaciation" OR "Russell diencephalic cachexia" OR "Russell syndrome" OR "diencephalic syndrome of infancy" OR "diencephalic syndrome of the infancy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Diencephalic syndrome" OR "Diencephalic cachexia" OR "Diencephalic syndrome of childhood" OR "Diencephalic syndrome of the childhood" OR "Diencephalic syndrome of emaciation" OR "Diencephalic syndrome of the emaciation" OR "Russell diencephalic cachexia" OR "Russell syndrome" OR "diencephalic syndrome of infancy" OR "diencephalic syndrome of the infancy"
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: 1 interventional · 3 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
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (2523) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T17:56:39.445Z