Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 20-06-2017
Symbol HIDS
Location 12q24.11
Name hyperimmunoglobulinemia D with periodic fever syndrome
Other name(s)
  • periodic fever, Dutch type
  • hyper-IgD syndrome
  • Corresponding gene MVK
    Main clinical features
  • onset before 10 years
  • recurrent attacks of fever, but no fixed periodicity, with a high serum IgD level and in the bone marrow a large number of plasma cells with cytoplasmic IgD
  • including high fever rashes, lymphadenopathy, abdominal distress, joint involvement and a decrease of MVK activity, splenomegaly, arthralgias
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/aminoacids
    defense and immunity
    Type disease
    Gene product
    Name mevalonate kinase (MVK)
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    unknown   abnormal protein/loss of function most prominent mutation, 1129 G>A, V377I, G>A I268T
    Remark(s)