Mevalonic aciduria

A rare, very severe form of mevalonate kinase deficiency (MKD) characterized by dysmorphic features, failure to thrive, psychomotor delay, ocular involvement, hypotonia, progressive ataxia, myopathy, and recurrent inflammatory episodes.



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Narrow down the case reports



Total: 19 (papers)

   


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(50.7%)		 9714005
 Hematological abnormalities and cholestatic liver disease in two patients with mevalonate kinase deficiency.
Hinson DD, Rogers ZR, Hoffmann GF, Schachtele M, Fingerhut R, Kohlschutter A, Kelley RI, Gibson KM.
Am J Med Genet. 1998;78(5):408-12.
Petechiae Hepatosplenomegaly Normocytic anemia
MVK
Anemia Hematological Disease Hepatomegaly Heterozygote Homo sapiens Hyperbilirubinemia Inborn Errors of Metabolism Infant, Newborn Intrahepatic Cholestasis Leukocytosis Male Mevalonic Acid Phenotype Phosphotransferases (Alcohol Group Acceptor) Splenomegaly Thrombocytopenia
2
(48.9%)		 10401001
 Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis.
Houten SM, Romeijn GJ, Koster J, Gray RG, Darbyshire P, Smit GP, de Klerk JB, Duran M, Gibson KM, Wanders RJ, Waterham HR.
Hum Mol Genet. 1999;8(8):1523-8.
Hepatosplenomegaly Anemia
MVK
rs104895295 rs104895304 rs104895317 rs104895319
Adult Amino Acid Sequence Amino Acid Substitution Butadienes Child DNA Mutational Analysis DNA, Complementary Escherichia coli Fatal Outcome Females Fibroblasts Gene Expression Regulation, Enzymologic Hemiterpenes Homo sapiens Immunoblotting Infant Male Mevalonic Acid Missense Mutation Molecular Sequence Data Pentanes Phosphotransferases (Alcohol Group Acceptor) Point Mutation Sequence Homology, Amino Acid
2
(48.9%)		 3012338
 Mevalonic aciduria--an inborn error of cholesterol and nonsterol isoprene biosynthesis.
Hoffmann G, Gibson KM, Brandt IK, Bader PI, Wappner RS, Sweetman L.
N Engl J Med. 1986;314(25):1610-4.
Cataract Hepatosplenomegaly Anemia
MVK
Amniotic Fluid Cataract Child, Preschool Failure to Thrive Females Fetal Diseases Homo sapiens Inborn Errors of Metabolism Male Mevalonic Acid Phosphotransferases Phosphotransferases (Alcohol Group Acceptor) Pregnancy Sterols Terpenes
4
(47.2%)		 21425920
 Perinatal onset mevalonate kinase deficiency.
Steiner LA, Ehrenkranz RA, Peterec SM, Steiner RD, Reyes-Mugica M, Gallagher PG.
Pediatr Dev Pathol. 2011;14(4):301-6.
Cholestasis Anemia
MVK
rs104895304
Amino Acid Sequence Base Sequence Fatal Outcome Females Homo sapiens Male Missense Mutation Molecular Sequence Data Polymerase Chain Reaction Pregnancy
5
(38.0%)		 20027140
 Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.
Brucknerova I, Behulova D, Sebova C, Bzduch V, Mach M, Dubovicky M, Ujhazy E.
Neuro Endocrinol Lett. 2009;30 Suppl 1:29-31.
Hepatosplenomegaly Leukocytosis
CRP
Differential Diagnosis Homo sapiens Hyperbilirubinemia, Neonatal Infant, Newborn Male
6
(32.9%)		 18941711
 Hyper-IgD syndrome with novel mutation in a Japanese girl.
Naruto T, Nakagishi Y, Mori M, Miyamae T, Imagawa T, Yokota S.
Mod Rheumatol. 2009;19(1):96-9.
Hepatosplenomegaly Recurrent fever
MVK
p|SUB|G|326|R;RS#:104895308
DNA Differential Diagnosis Females Homo sapiens Japan Mutation Phosphotransferases (Alcohol Group Acceptor) Polymerase Chain Reaction
7
(27.2%)		 20194276
 A novel missense mutation in MVK associated with MK deficiency and dyserythropoietic anemia.
Samkari A, Borzutzky A, Fermo E, Treaba DO, Dedeoglu F, Altura RA.
Pediatrics. 2010;125(4):e964-8.
Anemia
MVK SEC23B
p|SUB|V|310|M;RS#:104895319 p|SUB|Y|116|H;RS#:104895382
Child Females Homo sapiens Missense Mutation Phosphotransferases (Alcohol Group Acceptor)
8
(26.7%)		 27012807
(4807578)
 Perinatal manifestation of mevalonate kinase deficiency and efficacy of anakinra.
Peciuliene S, Burnyte B, Gudaitiene R, Rusoniene S, Drazdiene N, Liubsys A, Utkus A.
Pediatr Rheumatol Online J. 2016;14(1):19.
Hepatosplenomegaly
IL1A MVK
Adult Antirheumatic Agents DNA Females Follow-Up Studies Homo sapiens Infant, Newborn Interleukin 1 Receptor Antagonist Protein Male Mutation Perinatal Care Phosphotransferases (Alcohol Group Acceptor) Pregnancy
8
(26.7%)		 23146290
 Severe phenotypic spectrum of mevalonate kinase deficiency with minimal mevalonic aciduria.
Prasad C, Salvadori MI, Rupar CA.
Mol Genet Metab. 2012;107(4):756-9.
Hepatosplenomegaly
MVK
Fatal Outcome Heterozygote Homo sapiens Infant Infant, Newborn Male Mevalonic Acid Mutation Phenotype
8
(26.7%)		 12563048
 Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum.
Prietsch V, Mayatepek E, Krastel H, Haas D, Zundel D, Waterham HR, Wanders RJ, Gibson KM, Hoffmann GF.
Pediatrics. 2003;111(2):258-61.
Cataract Hepatosplenomegaly
MVK
rs104895317 rs104895322
Cerebellar Ataxia Child Females Growth Disorders Homo sapiens Hypergammaglobulinemia Immunoglobulin D Inborn Errors of Metabolism Intellectual Disability Male Mevalonic Acid Phenotype Phosphotransferases (Alcohol Group Acceptor) Psychomotor Disorders Sweet Syndrome
        

Phenotype(s) retrieved from Orphanet

    Total: 17

HPO ID Term Frequency
HP:0000239 Large fontanelles Very frequent (99-80%)
HP:0000252 Microcephaly Very frequent (99-80%)
HP:0000268 Dolichocephaly Very frequent (99-80%)
HP:0000325 Triangular face Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001250 Seizures Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001744 Splenomegaly Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000518 Cataract Frequent (79-30%)
HP:0000592 Blue sclerae Frequent (79-30%)
HP:0001251 Ataxia Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 7

HPO ID Term # of case reports
HP:0001251 Ataxia 2
HP:0001396 Cholestasis 1
HP:0001433 Hepatosplenomegaly 1
HP:0001903 Anemia 1
HP:0001945 Fever 1
HP:0001954 Recurrent fever 1
HP:0005214 Intestinal obstruction 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
MVK mevalonate kinase 4598