ORPHA:171851
MEDNIK syndrome
Also known as: Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome · Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome
Publications
556
Trials
0
Interventional, condition-specific
Researchers
743
Distinct authors in sample
Gene link
AP1S1
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare disorder of copper metabolism characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral , lamellar and erythrodermic ichthyosis, and keratodermia.
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:0012251
- MeSH:C563739
- OMIM:609313
- UMLS:C1836330
Additional Mondo synonyms (4)
erythrokeratodermia variabilis 3 · erythrokeratodermia variabilis, Kamouraska type · intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia · intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome
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.”
3/6 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
Definitive — AP1S1
- LiteraturePresent
556 matched papers (366 in last 10 years) Source
- Phenotype characterisedPresent
27 HPO annotations (e.g. Upslanted palpebral fissure; Hypotonia; Cirrhosis) 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?
Yes — we know a specific gene responsible (AP1S1).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
27
Associated phenotypes · MONDO:0012251
- Upslanted palpebral fissure
- Hypotonia
- Cirrhosis
- Cataract
- Sensorineural hearing impairment
Showing 5 of 27 — 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)
2 associated chemicals · 17 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.
- Zinc Acetate · therapeutic
- Copper · marker/mechanism
Pathways: Lysosome; Adaptive Immune System; HIV Infection; Host Interactions of HIV factors; Disease; Nef-mediates down modulation of cell surface receptors by recruiting them to clathrin adapters; Nef mediated downregulation of MHC class I complex cell surface expression; The role of Nef in HIV-1 replication and disease pathogenesis
Literature
Is anyone studying this?
556
556 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.
556 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).
366 in the last 10 years · low confidence
Phrase hits: 126 · MeSH hits: 1
Who's working on it?
743
Distinct author names in 126 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.
- 01Bonifacino JS7 papers · 2024
Cell Biology and Metabolism Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892.
Papers in Europe PMC - 02Kaler SG7 papers · 2020
Section on Translational Neuroscience, Molecular Medicine Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892-3754, USA kalers@mail.nih.gov.
Papers in Europe PMC - 03Ferreira CR6 papers · 2022
National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
Papers in Europe PMC - 04Martinelli D5 papers · 2026
Metabolic Diseases Unit, "Bambino Gesù" Children Hospital, 00165 Rome, Italy.
Papers in Europe PMC - 05Drouin CA4 papers · 2019
Service de Dermatologie, Centre Hospitalier du Grand Portage, Rivière du Loup, Québec, Canada.
Papers in Europe PMC - 06Lutsenko S4 papers · 2021
Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Papers in Europe PMC - 07Mattera R4 papers · 2024
Cell Biology and Metabolism Program, NICHD, National Institutes of Health, Bethesda, Maryland 20892, USA.
Papers in Europe PMC - 08Dionisi-Vici C3 papers · 2026
Division of Metabolic Diseases and Hepatology, Bambino Gesù Childrens Hospital IRCCS, Rome, Italy. Electronic address: carlo.dionisivici@opbg.net.
Papers in Europe PMC - 09Espinós C3 papers · 2023
Laboratory of Rare Neurodegenerative Diseases, Príncipe Felipe Research Center (CIPF), Valencia, Spain.
Papers in Europe PMC - 10Ilyechova EY3 papers · 2025
Laboratory of Trace elements metabolism, ITMO University, Kronverksky av., 49, St.-Petersburg 197101, Russia. ikaterina2705@yandex.ru.
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.
low 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.
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 MEDNIK syndrome — 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.
("MEDNIK syndrome" OR "Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome" OR "Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome" OR "erythrokeratodermia variabilis 3" OR "erythrokeratodermia variabilis, Kamouraska type" OR "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia") OR (MESH:"Erythrokeratodermia Variabilis 3") OR ("AP1S1" OR "AP1S1 syndrome" OR "AP1S1-related" OR "MEDNIK" OR "MEDNIK-related")MeSH descriptor terms unioned into the query: Erythrokeratodermia Variabilis 3
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"MEDNIK syndrome" OR "Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome" OR "Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome" OR "erythrokeratodermia variabilis 3" OR "erythrokeratodermia variabilis, Kamouraska type" OR "intellectual disability, enteropathy, deafness, neuropathy, ichthyosis, keratodermia"
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
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
- Publication count (556) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T08:44:02.069Z