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deficit mevalonátkinázy

  1. Record numberd054078
    Date06.06.2025
    TypeM - MESH
    Topical termdeficit mevalonátkinázy
    Other termEnglish (Pseudonym) Hyperimmunoglobulinemia D
    English (Pseudonym) Mevalonicaciduria
    Slovak (Pseudonym) deficit mevalonát kinázy
    Slovak (Pseudonym) hyperimunoglobulinémia D
    Slovak (Pseudonym) nedostatok mevalonátkinázy
    Slovak (Pseudonym) acidúria mevalónová
    Slovak (Pseudonym) syndróm hyper-IgD
    Slovak (Pseudonym) horúčka periodická, holandský typ
    Slovak (Pseudonym) syndróm hyperimunoglobulinémie D a periodickej horúčky
    Slovak (Pseudonym) hyper IgD syndróm periodickej horúčky
    UDCC10.228.140.163.100.593C15.378.147.542.319C16.320.382.750C16.320.565.189.593C16.320.565.663.430C18.452.132.100.593C18.452.648.189.593C18.452.648.663.430C20.683.460.319
    NoteAutosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
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Number of the records: 1  

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