ORPHA:100025
Alpha-heavy chain disease
Also known as: Immunoproliferative small intestinal disease · Mediterranean lymphoma · Alpha-HCD · IPSID
Publications
833
60.3th percentile
Trials
0
Interventional, condition-specific
Researchers
1,000
Distinct authors in sample
Gene link
—
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A type of HCD characterized by the production of incomplete monoclonal alpha-heavy chains without associated light chains. Alpha-HCD is considered to be a subtype of immunoproliferative small intestinal disease (IPSID). The clinical presentation includes chronic diarrhea with evidence of malabsorption.
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:0015045
- MeSH:D007161
- UMLS:C0021071
- NCIT:C3132
Additional Mondo synonyms (4)
Alpha heavy chain disease · Mediterranean abdominal lymphoma · Mediterraneanl lymphoma · alpha chain disease
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
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
833 matched papers (126 in last 10 years) Source
- Phenotype characterisedPresent
15 HPO annotations (e.g. Abnormal circulating immunoglobulin concentration; Anemia; Growth delay) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
15
Associated phenotypes · MONDO:0015045
- Abnormal circulating immunoglobulin concentration
- Anemia
- Growth delay
- Alopecia
- Fever
Showing 5 of 15 — open Monarch for the full list.
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-29
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
833
833 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=3967) is 59.
833 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
126 in the last 10 years · high confidence · 60.3th percentile (publications denominator)
Phrase hits: 833 · MeSH hits: 6
Who's working on it?
1,000
Distinct author names in 200 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.
- 01Isaacson PG5 papers · 2008Papers in Europe PMC
- 02
- 03Price SK4 papers · 1990
Department of Anatomical Pathology, University of Cape Town, South Africa.
Papers in Europe PMC - 04Tsapis A4 papers · 1991Papers in Europe PMC
- 05Choudhuri G3 papers · 2012Papers in Europe PMC
- 06Das P3 papers · 2025
Department of Pathology, All India Institute of Medical Sciences, New Delhi, India.
Papers in Europe PMC - 07Ghoshal UC3 papers · 2012
Department of Gastroenterology, Institute of Postgraduate Medical Education and Research, Calcutta, India. shanti@cal2.vsnl.net.in
Papers in Europe PMC - 08Naik S3 papers · 2001Papers in Europe PMC
- 09Sanders DS3 papers · 2025
Academic Department of Gastroenterology, Royal Hallamshire Hospital, Sheffield, United Kigdom david.sanders1@nhs.net.
Papers in Europe PMC - 10Schiepatti A3 papers · 2025
Gastroenterology Unit of Pavia Institute, Maugeri Clinical Research Institutes IRCCS, University of Pavia, Pavia, Italy.
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 11 September 2026 · last trial check 11 September 2026
No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.
high confidence · 38.6th 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.
Broader category heavy chain disease also has no matched interventional trial. See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Broader category: heavy chain disease
0
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Parent-category matching found a broader label but no interventional trials under it. How we count trials.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for Alpha-heavy chain disease — check Associations / patient organisations on that page.
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.
"Alpha-heavy chain disease" OR "Immunoproliferative small intestinal disease" OR "Mediterranean lymphoma" OR "Alpha-HCD" OR "IPSID" OR "Alpha heavy chain disease" OR "Mediterranean abdominal lymphoma" OR "Mediterraneanl lymphoma" OR "alpha chain disease"
MeSH descriptor terms unioned into the query: Immunoproliferative Small Intestinal Disease
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Alpha-heavy chain disease" OR "Immunoproliferative small intestinal disease" OR "Mediterranean lymphoma" OR "Alpha-HCD" OR "IPSID" OR "Alpha heavy chain disease" OR "Mediterranean abdominal lymphoma" OR "Mediterraneanl lymphoma" OR "alpha chain disease"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"heavy chain disease"
Query health: ok — strategies attempted: phrase, mesh; with hits: phrase, mesh
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 2026-07-27T06:54:54.810Z