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Details
Link-It Detail - Disease - Mevalonate Kinase Deficiency
Debug Stats
  • ### Total Build Time: 16 ms 25.452 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 415 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 477 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 254 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.418 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 14.572 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 3.058 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 4.088 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Mevalonate Kinase Deficiency C0342731
Deficiency of mevalonate kinase
Definition (1)
A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.
Semantic Types (2)
Disease or Syndrome (T047)
Cell or Molecular Dysfunction (T049)
Parents (3)
img Hereditary Autoinflammatory Diseases C0751422
img Peroxisomal Disorders C0282528
img Hypergammaglobulinemia C0020455
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Hereditary Autoinflammatory Diseases C0751422
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Hereditary Autoinflammatory Diseases C0751422
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Hereditary Autoinflammatory Diseases C0751422
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Peroxisomal Disorders C0282528
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Peroxisomal Disorders C0282528
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076827img Peroxisomal Disorders C0282528
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Peroxisomal Disorders C0282528
img Immune System Diseases C0021053img Immunoproliferative Disorders C00210704img Hypergammaglobulinemia C0020455
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370884img Hypergammaglobulinemia C0020455
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Hypergammaglobulinemia C0020455
Relationships (5)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 3
diso_​to_​phen : 1


Relationships:
none : 4
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_DISO12img Complication Aspects C1171258
DISO_to_CHEM10img PHOSPHOTRANSFERASES ALCOHOL C0206338
DISO_to_DISO7img Fever C0015967
DISO_to_DISOpermuted_term_ofimg Deficiency of mevalonate kinase C0342731
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanMVK4598mevalonate kinase
img GAD, Score=1000, Pubmed Id: 12634869, UMLKSK CUI: C0342731
img GENERIF, Score=1000, Pubmed Id: 15037710, UMLKSK CUI: C0342731
HumanIL1B3553interleukin 1, beta
img GENERIF, Score=1000, Pubmed Id: 17075828, UMLKSK CUI: C0342731
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342731Mevalonate Kinase Deficiency0self