ORPHA:438274
GCGR-related hyperglucagonemia
Also known as: Mahvash disease
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
53
49.6th percentile
Trials
0
Interventional, condition-specific
Researchers
293
Distinct authors in sample
Gene link
GCGR
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare tumor of pancreas caused by mutations in the GCGR gene characterized by pancreatic alpha cell hyperplasia, pancreatic neuroendocrine tumors and markedly increased serum glucagon levels in the absence of a glucagonoma syndrome. Clinical manifestations may include abdominal pain, pancreatitis, fatigue, diarrhea, and diabetes mellitus.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018582
- OMIM:619290
- UMLS:C4763635
Additional Mondo synonyms (6)
MVAH · alpha-cell hyperplasia with glucagonemia · nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor · nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour · nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor · nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — GCGR
- LiteraturePresent
53 matched papers (40 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 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 (GCGR).
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?
53
53 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
53 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).
40 in the last 10 years · medium confidence · 49.6th percentile (publications denominator)
Phrase hits: 53 · MeSH hits: 0
Who's working on it?
293
Distinct author names in 53 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.
- 01Yu R14 papers · 2024
Division of Endocrinology, Cedars-Sinai Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, California, United States of America. run.yu@cshs.org
Papers in Europe PMC - 02Wewer Albrechtsen NJ4 papers · 2025
Department of Biomedical Sciences; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Papers in Europe PMC - 03Dean ED3 papers · 2024
Division of Diabetes, Endocrinology and Metabolism, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Papers in Europe PMC - 04Holst JJ3 papers · 2022
Department of Biomedical Sciences; Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Papers in Europe PMC - 05Klöppel G3 papers · 2026
Institute of Pathology, Technische Universität München, Munich, Germany
Papers in Europe PMC - 06Xu Y3 papers · 2024
Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, 510530, China.
Papers in Europe PMC - 07Brosens LAA2 papers · 2025
Department of Pathology, University Medical Center Utrecht, 3584 CX, Utrecht, The Netherlands.
Papers in Europe PMC - 08Charron MJ2 papers · 2024
Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY 10461, USA.
Papers in Europe PMC - 09Chen W2 papers · 2024
Department of Molecular Physiology and Biophysics, Vanderbilt University School of Medicine, Nashville, TN 37232, USA.
Papers in Europe PMC - 10de Herder WW2 papers · 2025
ENETS Center of Excellence, Section of Endocrinology, Department of Internal Medicine, Erasmus MC Cancer Center, Erasmus MC, Rotterdam, The Netherlands.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present).
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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.
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.
"GCGR-related hyperglucagonemia" OR "Mahvash disease" OR "alpha-cell hyperplasia with glucagonemia" OR "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" OR "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour" OR "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" OR "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"GCGR-related hyperglucagonemia" OR "Mahvash disease" OR "alpha-cell hyperplasia with glucagonemia" OR "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumor" OR "nesidioblastosis alpha cell hyperplasia microglucagonoma and nonfunctioning islet cell tumour" OR "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumor" OR "nesidioblastosis, alpha cell hyperplasia, microglucagonoma, and nonfunctioning islet cell tumour" OR "GCGR"
Recall-expansion terms: GCGR
Study-type breakdown: 0 interventional · 0 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: MVAH
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
Ingested 2026-07-27T16:14:52.534Z