Features include always present findings: Elevated urine mevalonic acid level, Skin rash, and Hepatosplenomegaly; and very common findings: Lymphadenitis, Lymphadenopathy, Myalgia, and Elevated erythrocyte sedimentation rate and others. 49 total HPO annotations.

MVK encodes mevalonate kinase (396 aa). Catalyzes the phosphorylation of mevalonate to mevalonate 5-phosphate, a key step in isoprenoid and cholesterol biosynthesis Highest expression in Testis (41.6 TPM) and Esophagus Mucosa (40.7 TPM).

Hyperimmunoglobulinemia D with periodic fever is associated with mutations in the MVK gene on chromosome 12.

The MVK protein participates in SREBP1A,2:NF-Y:SP1:MVK gene and Expression of Mevalonate Kinase (MVK) pathways.

MVK is classified as a druggable target (Enzyme and Kinase categories) with score 8.7.

Genetic testing for MVK is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for hyperimmunoglobulinemia D with periodic fever has been reported in the published literature.

Phenotype severity distribution: 3 always present features, 11 very common features, 13 common features.

Estimated prevalence: Unknown (Unknown prevalence).

1 clinical trial registered. Interventions under study include biologic therapy. Research is primarily industry-sponsored.

71 publications have been identified in PubMed for hyperimmunoglobulinemia D with periodic fever. Research spans Case Report / Case Series (42%), Epidemiology / Natural History (24%), and Review / Meta-Analysis (20%).