ORPHA:37
Acrodermatitis enteropathica
Also known as: AEZ · Acrodermatitis enteropathica, zinc deficiency type · Inherited zinc deficiency
Publications
2,720
88.4th percentile
Trials
0
Interventional, condition-specific
Researchers
1,035
Distinct authors in sample
Gene link
SLC39A4
Definitive
Readiness
4/6
Stages with a signal
Clinical definition (Orphanet)
A rare inherited inborn error of metabolism resulting in a severe zinc deficiency and characterized by acral dermatitis, alopecia, diarrhea and growth failure.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0008713
- MeSH:C538178
- OMIM:201100
- UMLS:C0221036
- NCIT:C128802
Additional Mondo synonyms (3)
acrodermatitis enteropathica · acrodermatitis enteropathica, zinc deficiency type · inherited zinc deficiency
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.”
4/6 stages with a signal
No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.
- Gene identifiedPresent
Definitive — SLC39A4
- LiteraturePresent
2,720 matched papers (1,239 in last 10 years) Source
- Phenotype characterisedPresent
56 HPO annotations (e.g. Lethargy; Short stature; Ataxia) Source
- Animal modelPresent
1 genotype model (Mus musculus) Source
- 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?
Yes — we know a specific gene responsible (SLC39A4).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
56
Associated phenotypes · MONDO:0008713
- Lethargy
- Short stature
- Ataxia
- Decreased circulating alkaline phosphatase activity
- Alopecia of scalp
Showing 5 of 56 — open Monarch for the full list.
Animal models (Monarch / Alliance)
1
Model associations linked to this Mondo ID
- Slc39a4tm2Gka/Slc39a4tm2Gka Tg(Vil1-cre/ERT2)23Syr/0 [background:] involves: 129P2/OlaHsd * C57BL/6 * DBA/2·MGI:5438021·Mus musculus
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)
2 associated chemicals · 7 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Clioquinol · therapeutic
- Zinc · marker/mechanism
Pathways: Mineral absorption; Transmembrane transport of small molecules; Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds; SLC-mediated transmembrane transport; Metal ion SLC transporters; Zinc transporters; Zinc influx into cells by the SLC39 gene family
Literature
Is anyone studying this?
2,720
2,720 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.
2,720 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).
1,239 in the last 10 years · medium confidence · 88.4th percentile (publications denominator)
Phrase hits: 2,067 · MeSH hits: 0
Who's working on it?
1,035
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.
- 01Wang S7 papers · 2026
Division of Pediatric Surgery, Department of Surgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Papers in Europe PMC - 02Li J6 papers · 2026
State Key Laboratory for Quality and Safety of Agro-Products, Institute of Food Sciences, Zhejiang Academy of Agricultural Sciences, Hangzhou, China.
Papers in Europe PMC - 03Li Z5 papers · 2025
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 04Chen J4 papers · 2026
Department of General Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 05Chen H3 papers · 2026
Department of General Surgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Papers in Europe PMC - 06Chen Y3 papers · 2025
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China.
Papers in Europe PMC - 07
- 08Liu Y3 papers · 2025
School of Pharmacy, Key Laboratory of Elemene Class Anti-Cancer Chinese Medicines; Engineering Laboratory of Development and Application of Traditional Chinese Medicines; Collaborative Innovation Center of Traditional Chinese Medicines of Zhejiang Province, Hangzhou Normal University, Hangzhou, Zhejiang 311121, China.
Papers in Europe PMC - 09Liu Z3 papers · 2026
Institute of Mechanobiology & Medical Engineering, School of Life Sciences & Biotechnology, Shanghai Jiao Tong University, Shanghai, China.
Papers in Europe PMC - 10Stergachis AB3 papers · 2025
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA. absterga@uw.edu.
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. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
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.
medium 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
None of the matched observational studies is currently listed as recruiting.
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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29
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).
Uncertain / not reviewed (1)
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 Acrodermatitis enteropathica — 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.
("Acrodermatitis enteropathica" OR "Acrodermatitis enteropathica, zinc deficiency type" OR "Inherited zinc deficiency") OR ("SLC39A4" OR "SLC39A4 syndrome" OR "SLC39A4-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Acrodermatitis enteropathica" OR "Acrodermatitis enteropathica, zinc deficiency type" OR "Inherited zinc deficiency"
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: AEZ
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 2026-07-26T12:11:12.477Z