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
Publications
818
81.5th percentile
Trials
1
Interventional, condition-specific
Researchers
1,089
Distinct authors in sample
Gene link
MVK
Definitive
Readiness
6/6
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.”
6/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — MVK
- LiteraturePresent
818 matched papers (421 in last 10 years) Source
- Phenotype characterisedPresent
58 HPO annotations (e.g. Rod-cone dystrophy; Vertigo; Increased total neutrophil count) Source
- Animal modelPresent
2 genotype models (Mus musculus) Source
- Orphan designationPartial
1 FDA designation (none yet with FDA orphan-indication approval) — e.g. canakinumab Source
- 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)
58
Associated phenotypes · MONDO:0009849
- Rod-cone dystrophy
- Vertigo
- Increased total neutrophil count
- Serositis
- Unusual molluscum contagiosum
Showing 5 of 58 — open Monarch for the full list.
Animal models (Monarch / Alliance)
2
Model associations linked to this Mondo ID
- MvkGt(OST201716)Lex/Mvk+ [background:] involves: 129S5/SvEvBrd * C57BL/6·MGI:8246765·Mus musculus
- Mvkem1Mijr/Mvkem4Mijr [background:] C57BL/6J-Mvkem1Mijr Mvkem4Mijr·MGI:8247954·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)
1
Designation · no FDA orphan-indication approval yet
- FDA canakinumab (ILARIS)Hyperimmunoglobulinemia D And Periodic Fever Syndrome · 2013-12-05
Sources: FDA OOPD · EMA orphan designations
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
818
818 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.
818 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).
421 in the last 10 years · medium confidence · 81.5th 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 11 September 2026 · last trial check 28 July 2026
1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).
medium confidence · 80.1th 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
Not reviewed·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
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 2026-07-29
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).
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 Hyperimmunoglobulinemia D with periodic fever — 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.
("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 syndrome" OR "MVK-related")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"
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: ok — strategies attempted: phrase; 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