ORPHA:977
Adrenomyodystrophy
Clinical definition (Orphanet)
An extremely rare genetic endocrine disease characterized by primary adrenal insufficiency, dystrophic , hepatic steatosis, severe psychomotor delay, megalocornea, , chronic constipation, and terminal bladder ectasia which can lead to death. There have been no further descriptions in the literature since 1982.
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.
Is anyone studying this?
3
3 papers have ever been indexed 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=183) is 38.
3 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
1 in the last 10 years · medium confidence · 9.6th percentile (publications denominator)
Is a treatment being tested?
0
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 26 July 2026
No matched interventional trials. This is true for 59.2% of diseases in the trials denominator (151 of 255). Here are the researchers publishing on it.
medium confidence · 29.6th percentile (trials denominator)
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.
Who's working on it?
21
Distinct author names in 3 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.
- 01Ropers HH2 papers · 1999Papers in Europe PMC
- 02Beckmann R1 paper · 1982Papers in Europe PMC
- 03Böhm N1 paper · 1982Papers in Europe PMC
- 04
- 05Hamel BC1 paper · 1999
Department of Human Genetics, University Hospital, Nijmegen, The Netherlands.
Papers in Europe PMC - 06Ketelsen UP1 paper · 1982Papers in Europe PMC
- 07Kremer H1 paper · 1999Papers in Europe PMC
- 08Liu R1 paper · 2022
Division of Rare Diseases Research Innovation, National Center for Advancing Translational Sciences, Bethesda, MD, United States.
Papers in Europe PMC - 09Mariman EC1 paper · 1999Papers in Europe PMC
- 10Mathé E1 paper · 2022
Division of Pre-clinical Innovation, National Center for Advancing Translational Sciences, Rockville, MD, United States.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment 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 above — 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 below but are not added to the query string.
"Adrenomyodystrophy"
MeSH descriptor terms unioned into the query: Adrenomyodystrophy
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Adrenomyodystrophy"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C538051 OMIM:300270 UMLS:C1846044
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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