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diencephalic syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diencephalic syndrome

MONDO:0015663

Also known as:Russell diencephalic cachexiaRussell syndromediencephalic cachexia

Find Clinical TrialsTrials

Overview

Diencephalic syndrome (DS) is a rare condition characterized by profound emaciation and failure to thrive (with normal caloric intake and normal linear growth), hyperalertness, hyperkinesias and euphoria, in the presence of hypothalamic tumors.

Clinical Trials2 registered · 2 recruiting

Diagnosis

Biomarker and diagnostic research for diencephalic syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

2 clinical trials registered, 2 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

76 publications have been identified in PubMed for diencephalic syndrome. Research spans Case Report / Case Series (34%), Review / Meta-Analysis (17%), and Basic Science / Preclinical (17%).

Research Type	Count	% of Total
Patient case studies	26	34%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 1:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:1672

GARD

Genetic and Rare Diseases Info Center

GARD:6276

Questions for Your Care Team

→Are any of the 2 active clinical trials a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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diencephalic syndrome

Overview

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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