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Term:mevalonic aciduria
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Accession:DOID:0050452 term browser browse the term
Definition:Autosomal 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.
Synonyms:exact_synonym: HIDS;   Hyper IgD Syndrome;   Hyper IgD Syndromes;   Hyperimmunoglobulinemia D;   Hyperimmunoglobulinemia D And Periodic Fever Syndrome;   MEVA;   Mevalonate Kinase Deficiencies;   Mevalonate Kinase Deficiency;   Mevalonicaciduria;   Mevalonicacidurias;   Periodic Fever, Dutch Type
 primary_id: MESH:D054078;   RDO:0007652
 alt_id: OMIM:260920;   OMIM:610377
 xref: GARD:3588;   NCI:C84890;   ORDO:29
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mevalonic aciduria term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Crp C-reactive protein JBrowse link 13 91,080,448 91,081,358 RGD:9585642
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase JBrowse link 2 27,480,224 27,500,654 RGD:11554173
G Mmab metabolism of cobalamin associated B JBrowse link 12 47,920,712 47,935,438 RGD:8554872
G Mvk mevalonate kinase JBrowse link 12 47,904,266 47,920,457 RGD:7240710
G Tnf tumor necrosis factor JBrowse link 20 5,189,382 5,192,000 RGD:9585642

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  disease 15553
    Pathological Conditions, Signs and Symptoms 8019
      Signs and Symptoms 4646
        Hypergammaglobulinemia 13
          mevalonic aciduria 5
Path 2
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  disease 15553
    disease of anatomical entity 14837
      nervous system disease 10167
        sensory system disease 4596
          skin disease 2462
            Genetic Skin Diseases 760
              Hereditary Autoinflammatory Diseases 94
                mevalonic aciduria 5
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.