ORPHA:343
Hyperimmunoglobulinemia D with periodic fever
Also known as: HIDS · Hyper-IgD syndrome · Hyperimmunoglobinemia D with recurrent fever · Hyperimmunoglobulinemia D syndrome · Partial mevalonate kinase deficiency
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
810
88.4th percentile
Trials
1
Interventional, condition-specific
Researchers
1,089
Distinct authors in sample
Gene link
MVK
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare autoinflammatory disease, and form of mevalonate kinase deficiency (MKD), characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgia and skin manifestations.
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:0009849
- OMIM:260920
- UMLS:C0398691
Additional Mondo synonyms (4)
hyper-IgD syndrome · hyperimmunoglobinemia D with recurrent fever · hyperimmunoglobulinemia D syndrome · partial mevalonate kinase 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MVK
- LiteraturePresent
810 matched papers (413 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 trialPresent
1 matched on ClinicalTrials.gov
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 (MVK).
GenCC classification: Definitive.
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?
810
810 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.
810 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).
413 in the last 10 years · medium confidence · 88.4th percentile (publications denominator)
Phrase hits: 810 · MeSH hits: 0
Who's working on it?
1,089
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01
- 02Gattorno M6 papers · 2024
Centro Malattie Autoinfiammatorie e Immunodeficienze, IRCCS Istituto Giannina Gaslini, via Gerolamo Gaslini 5, 16147 Genova, Italy.
Papers in Europe PMC - 03Simon A6 papers · 2022
Department of General Internal Medicine, University Medical Center St Radboud, Nijmegen, The Netherlands.
Papers in Europe PMC - 04Akiyama M4 papers · 2025
Department of Dermatology, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Papers in Europe PMC - 05
- 06
- 07Waterham HR4 papers · 2024
Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology, Endocrinology & Metabolism, Amsterdam UMC, University of Amsterdam, Amsterdam, Netherlands.
Papers in Europe PMC - 08
- 09
- 10Gul A3 papers · 2024
Istanbul School of Medicine, University of Istanbul, Istanbul, Turkey.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
1
interventional trials for this specific condition
1 interventional trial matched this specific condition name; none in our sample are currently recruiting.
Data as of 27 July 2026
1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).
medium confidence · 76.8th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
1 interventional trials matched after quoted-phrase search and title/condition post-filter.
No currently recruiting studies in the matched set. Open the same search on ClinicalTrials.gov.
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.
Recruiting or not-yet-recruiting
- NCT06838143·RECRUITING·Ilaris NIS in Korea
Conditions: Hereditary Periodic Fever Syndromes · Cryopyrin-associated Periodic Syndromes (CAPS) · Colchicine Resistance Familial Mediterranean Fever (crFMF) · TNF Receptor Associated Periodic Syndrome (TRAPS)·Matched via name phrase
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.
"Hyperimmunoglobulinemia D with periodic fever" OR "Hyper-IgD syndrome" OR "Hyperimmunoglobinemia D with recurrent fever" OR "Hyperimmunoglobulinemia D syndrome" OR "Partial mevalonate kinase deficiency"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Hyperimmunoglobulinemia D with periodic fever" OR "Hyper-IgD syndrome" OR "Hyperimmunoglobinemia D with recurrent fever" OR "Hyperimmunoglobulinemia D syndrome" OR "Partial mevalonate kinase deficiency" OR "MVK"
Recall-expansion terms: MVK
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 1 interventional · 2 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
Synonyms dropped by stoplist: HIDS
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 2026-07-26T13:29:16.973Z