MEVA
MCID: MVL001
MIFTS: 57
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Mevalonic Aciduria (MEVA)
Categories:
Bone diseases, Eye diseases, Genetic diseases, Immune diseases, Liver diseases, Metabolic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Mevalonic Aciduria:
Characteristics:Orphanet epidemiological data:59
mevalonic aciduria
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; OMIM:57
Inheritance:
autosomal recessive
Miscellaneous:
recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea onset of crises in early childhood febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) rash, edema, and arthralgia may occur during crisis allelic to hyperimmunoglobulinemia d syndrome (hids, ) HPO:32Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Anatomical: Eye diseases Bone diseases Skin diseases Immune diseases Liver diseases
ICD10:
34
Orphanet: 59
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NIH Rare Diseases
:
53
Mevalonic aciduria is the severe form of mevalonate kinase deficiency, a condition characterized by recurrent episodes of fever that typically begin during infancy. During these fever episodes, people with mevalonic aciduria may have an enlarged liver and spleen (hepatosplenomegaly), lymphadenopathy, abdominal pain, diarrhea, joint pain (arthralgia), and skin rashes. Additional ongoing issues include developmental delay, progressive ataxia, progressive problems with vision, an unusually small, elongated head, and failure to thrive. Mevalonic aciduria is caused by deficiency of mevalonate kinase, the first committed enzyme of cholesterol biosynthesis. This deficiency occurs as a result of inheritedmutations in the MVK gene. This condition is inherited in an autosomal recessive pattern. Treatment is challenging and remains mainly supportive.The less severe type of mevalonate kinase deficiency is called hyperimmunoglobulinemia D syndrome (HIDS).
MalaCards based summary : Mevalonic Aciduria, also known as mevalonate kinase deficiency, is related to hyper-igd syndrome and familial mediterranean fever, and has symptoms including vomiting, arthralgia and abdominal pain. An important gene associated with Mevalonic Aciduria is MVK (Mevalonate Kinase), and among its related pathways/superpathways are Terpenoid backbone biosynthesis and Metabolism. The drugs Colchicine and Immunoglobulins have been mentioned in the context of this disorder. Affiliated tissues include skin, liver and spleen, and related phenotypes are intellectual disability and seizures Disease Ontology : 12 A peroxisomal disease that is characterized by cortical atrophy, microcephaly, dysmorphic facies, muscular hypotonia and intellectual disability and has material basis in mutation in the MVK gene that results in deficiency of mevalonate kinase and impaired cholesterol. biosynthesis. Genetics Home Reference : 25 Mevalonate kinase deficiency is a condition characterized by recurrent episodes of fever, which typically begin during infancy. Each episode of fever lasts about 3 to 6 days, and the frequency of the episodes varies among affected individuals. In childhood the fevers seem to be more frequent, occurring as often as 25 times a year, but as the individual gets older the episodes occur less often. OMIM : 57 Mevalonic aciduria, the first recognized defect in the biosynthesis of cholesterol and isoprenoids, is a consequence of a deficiency of mevalonate kinase (ATP:mevalonate 5-phosphotransferase; EC 2.7.1.36). Mevalonic acid accumulates because of failure of conversion to 5-phosphomevalonic acid, which is catalyzed by mevalonate kinase. Mevalonic acid is synthesized from 3-hydroxy-3-methylglutaryl-CoA, a reaction catalyzed by HMG-CoA reductase (142910). Mevalonic aciduria is characterized by dysmorphology, psychomotor retardation, progressive cerebellar ataxia, and recurrent febrile crises, usually manifesting in early infancy, accompanied by hepatosplenomegaly, lymphadenopathy, arthralgia, and skin rash. The febrile crises are similar to those observed in hyperimmunoglobulinemia D and to periodic fever syndrome (HIDS; 260920), which is also caused by mutation in the MVK gene (summary by Prietsch et al., 2003). (610377) UniProtKB/Swiss-Prot : 75 Mevalonic aciduria: Accumulation of mevalonic acid which causes a variety of symptoms such as psychomotor retardation, dysmorphic features, cataracts, hepatosplenomegaly, lymphadenopathy, anemia, hypotonia, myopathy, and ataxia. Wikipedia : 76 Mevalonate kinase deficiency (MKD), also called mevalonic aciduria and hyper immunoglobin D syndrome... more... |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:610377Human phenotypes related to Mevalonic Aciduria:59 32 (show all 41)
UMLS symptoms related to Mevalonic Aciduria:vomiting, arthralgia, abdominal pain, edema, diarrhea, headache GenomeRNAi Phenotypes related to Mevalonic Aciduria according to GeneCards Suite gene sharing:26
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Drugs for Mevalonic Aciduria (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):(show all 6)
Interventional clinical trials:
Cochrane evidence based reviews: mevalonate kinase deficiency |
MalaCards organs/tissues related to Mevalonic Aciduria:41
Skin,
Liver,
Spleen,
Bone,
Eye,
Prostate,
B Cells
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Articles related to Mevalonic Aciduria:(show top 50) (show all 80)
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UniProtKB/Swiss-Prot genetic disease variations for Mevalonic Aciduria:75
ClinVar genetic disease variations for Mevalonic Aciduria:6 (show top 50) (show all 280)
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Search
GEO
for disease gene expression data for Mevalonic Aciduria.
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Pathways related to Mevalonic Aciduria according to KEGG:37
Pathways related to Mevalonic Aciduria according to GeneCards Suite gene sharing:
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Cellular components related to Mevalonic Aciduria according to GeneCards Suite gene sharing:
Biological processes related to Mevalonic Aciduria according to GeneCards Suite gene sharing:(show all 11)
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