ORPHA:251523
Hyperzincemia and hypercalprotectinemia
Also known as: Hz/Hc · PAMI syndrome · PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
Query health: suspect — Only one of 3 strategies returned hits (phrase).
Publications
956
Trials
0
Interventional, condition-specific
Researchers
1,224
Distinct authors in sample
Gene link
PSTPIP1
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
A rare inborn error of zinc metabolism characterized by recurrent infections, , anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.
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:0011174
- MeSH:C566595
- OMIM:601979
- UMLS:C4760957
Additional Mondo synonyms (3)
hyperzincemia and hypercalprotectinemia · hyperzincemia with functional zinc depletion · recurrent infections-inflammatory syndrome due to zinc metabolism disorder 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.”
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 — PSTPIP1
- LiteraturePresent
956 matched papers (728 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 (PSTPIP1).
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?
956
956 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=5449) is 41.
956 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).
728 in the last 10 years · low confidence
Phrase hits: 956 · MeSH hits: 0
Who's working on it?
1,224
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 J6 papers · 2025
Buchmann Institute for Molecular Life Sciences, Goethe University Frankfurt am Main, 60438 Frankfurt am Main, Germany.
Papers in Europe PMC - 02Gattorno M5 papers · 2023
UOC Rheumatology and Autoinflammatory Diseases, IRCCS Istituto Giannina Gaslini, Genova, Italy.
Papers in Europe PMC - 03Wang Y5 papers · 2025
Department of Pulmonary and Critical Care Medicine, Renmin Hospital of Wuhan University, Wuhan, Hubei Province, China.
Papers in Europe PMC - 04Zhang Y5 papers · 2026
The First Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 05Boursier G4 papers · 2026
Genetics, Montpellier University, Montpellier, France; CEREMAIA: French National Reference Center for Auto-inflammatory Diseases and AA Amyloidosis, Paris, France.
Papers in Europe PMC - 06Noomen F4 papers · 2025
Department of surgery, Monastir University Hospital, Monastir, Tunisia.
Papers in Europe PMC - 07Zhou H4 papers · 2025
Academy of Military Medical Sciences, Beijing 100850, China.
Papers in Europe PMC - 08Barki A3 papers · 2024
Department Head of Urology, Mohamed VI University Hospital Center, Mohamed I University, Oujda, 62000, Morocco.
Papers in Europe PMC - 09Chaouch MA3 papers · 2025
Department of surgery, Monastir University Hospital, Monastir, Tunisia. Electronic address: docmedalichaouch@gmail.com.
Papers in Europe PMC - 10Gennery AR3 papers · 2025
Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, United Kingdom; Great North Children's Hospital, Newcastle University, Newcastle upon Tyne, United Kingdom.
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.
low 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.
"Hyperzincemia and hypercalprotectinemia" OR "Hz/Hc" OR "PAMI syndrome" OR "PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome" OR "hyperzincemia with functional zinc depletion" OR "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome"
MeSH descriptor terms unioned into the query: Hyperzincemia with Functional Zinc Depletion
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperzincemia and hypercalprotectinemia" OR "Hz/Hc" OR "PAMI syndrome" OR "PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome" OR "hyperzincemia with functional zinc depletion" OR "recurrent infections-inflammatory syndrome due to zinc metabolism disorder syndrome" OR "PSTPIP1"
Recall-expansion terms: PSTPIP1
Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, mesh, 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
- Publication count (956) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-27T10:46:48.522Z