ORPHA:611216
Aplastic anemia-intellectual disability-dwarfism syndrome
Also known as: AMeD syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
102
60.9th percentile
Trials
0
Interventional, condition-specific
Researchers
533
Distinct authors in sample
Gene link
ADH5
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare constitutional aplastic anemia characterized by aplastic anemia, , short stature and microcephaly. Skin pigmentation or cafe au lait spots are often present. Majority of the patients present global with impaired motor skills, learning disabilities, speech delay whereas some patients also may have behavioral problems including autistic features. Patients often develop premalignant myelodysplastic syndromes or leukemia.
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:0030894
- OMIM:619151
- UMLS:C5436906
Additional Mondo synonyms (4)
AMED syndrome, digenic · AMEDS · aplastic anemia-intellectual disability-dwarfism syndrome · bone marrow failure syndrome 7, digenic
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 — ADH5
- LiteraturePresent
102 matched papers (73 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 (ADH5).
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?
102
102 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.
102 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).
73 in the last 10 years · high confidence · 60.9th percentile (publications denominator)
Phrase hits: 102 · MeSH hits: 0
Who's working on it?
533
Distinct author names in 102 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.
- 01Marczinski CA8 papers · 2018
Department of Psychological Science, Northern Kentucky University
Papers in Europe PMC - 02
- 03Miller KE5 papers · 2019
Department of Research Institute on Addictions, University at Buffalo, The State University of New York , Buffalo, New York.
Papers in Europe PMC - 04Muramatsu H5 papers · 2025
Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, 466-8560, Japan. hideki-muramatsu@med.nagoya-u.ac.jp.
Papers in Europe PMC - 05Hamada M4 papers · 2025
Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, 466-8560, Japan.
Papers in Europe PMC - 06Lee J4 papers · 2025
Department of Pediatrics, Seoul National University College of Medicine, Seoul, Korea, 101, Daehak-ro, Jongno-gu, Seoul, 03080, Republic of Korea.
Papers in Europe PMC - 07Turrisi R4 papers · 2015
Department of Biobehavioral Health & Prevention Research Center, The Pennsylvania State University, State College, USA.
Papers in Europe PMC - 08Wakamatsu M4 papers · 2025
Department of Pediatrics, Nagoya University Graduate School of Medicine, Showa-ku, Nagoya, 466-8560, Japan.
Papers in Europe PMC - 09Abbott RA3 papers · 2017
NIHR CLAHRC South West Peninsula (PenCLAHRC), University of Exeter Medical School, South Cloisters, St Luke's Campus, Exeter, England, UK, EX1 2LU.
Papers in Europe PMC - 10Bethel A3 papers · 2017
NIHR CLAHRC South West Peninsula (PenCLAHRC), University of Exeter Medical School, South Cloisters, St Luke's Campus, Exeter, England, UK, EX1 2LU.
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.
high 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.
"Aplastic anemia-intellectual disability-dwarfism syndrome" OR "AMeD syndrome" OR "AMED syndrome, digenic" OR "AMEDS" OR "bone marrow failure syndrome 7, digenic"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Aplastic anemia-intellectual disability-dwarfism syndrome" OR "AMeD syndrome" OR "AMED syndrome, digenic" OR "AMEDS" OR "bone marrow failure syndrome 7, digenic" OR "ADH5"
Recall-expansion terms: ADH5
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
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-27T19:02:46.086Z