hyperimmunoglobulinemia D with periodic fever
Findings
No curated finding names hyperimmunoglobulinemia D with periodic fever yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Hyperimmunoglobinemia D with periodic fever (HIDS) is a rare autoinflammatory disease characterized by periodic attacks of fever and a systemic inflammatory reaction (cervical lymphadenopathy, abdominal pain, vomiting, diarrhea, arthralgias and skin signs).
Definition from the Mondo Disease Ontology (MONDO:0009849), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
48 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Elevated erythrocyte sedimentation rateHPOHP:0003565
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Elevated urine mevalonic acid levelHPOHP:0032638
- 33 of 33 reported patients
- HepatosplenomegalyHPOHP:0001433
- 10 of 10 reported patients
- Recurrent feverHPOHP:0001954
- 50 of 50 reported patients
- Very frequent (80% to 99% of cases)
- Skin rashHPOHP:0000988
- 20 of 20 reported patients
- Increased circulating IgD concentrationHPOHP:0410246
- 53 of 60 reported patients
Show the remaining 36
- Increased circulating IgA concentrationHPOHP:0003261
- 26 of 40 reported patients
- Very frequent (80% to 99% of cases)
- LymphadenitisHPOHP:0002840
- 8 of 10 reported patients
- MyalgiaHPOHP:0003326
- 8 of 10 reported patients
- Very frequent (80% to 99% of cases)
- ChillsHPOHP:0025143
- 38 of 50 reported patients
- Chronic diarrheaHPOHP:0002028
- 44 of 60 reported patients
- SplenomegalyHPOHP:0001744
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MVKHGNC:7530
- Definitive · G2P · Autosomal recessive · 2017
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
5 names
Resolves to: hyperimmunoglobulinemia D with periodic fever
- Also called
- HIDShyper-IgD syndromehyperimmunoglobinemia D with recurrent feverhyperimmunoglobulinemia D syndromepartial mevalonate kinase deficiency