Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

MEVALONIC ACIDURIA
Synonyms

MEVA
ID

http://purl.bioontology.org/ontology/OMIM/610377
altLabel

MEVA
cui

C1959626
Gene Locus

12q24
Gene Symbol

MVK

MVLK

POROK3
Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000223

http://purl.bioontology.org/ontology/OMIM/MTHU000201

http://purl.bioontology.org/ontology/OMIM/MTHU000200

http://purl.bioontology.org/ontology/OMIM/MTHU000231

http://purl.bioontology.org/ontology/OMIM/MTHU036519

http://purl.bioontology.org/ontology/OMIM/MTHU000229

http://purl.bioontology.org/ontology/OMIM/MTHU001998

http://purl.bioontology.org/ontology/OMIM/MTHU000202

http://purl.bioontology.org/ontology/OMIM/MTHU000213

http://purl.bioontology.org/ontology/OMIM/MTHU036340

http://purl.bioontology.org/ontology/OMIM/MTHU000198

http://purl.bioontology.org/ontology/OMIM/MTHU000197

http://purl.bioontology.org/ontology/OMIM/MTHU000203

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU000221

http://purl.bioontology.org/ontology/OMIM/MTHU000212

http://purl.bioontology.org/ontology/OMIM/MTHU000136

http://purl.bioontology.org/ontology/OMIM/MTHU034847

http://purl.bioontology.org/ontology/OMIM/MTHU036357

http://purl.bioontology.org/ontology/OMIM/MTHU036699

http://purl.bioontology.org/ontology/OMIM/MTHU000226

http://purl.bioontology.org/ontology/OMIM/MTHU043001

http://purl.bioontology.org/ontology/OMIM/MTHU000234

http://purl.bioontology.org/ontology/OMIM/MTHU000579

http://purl.bioontology.org/ontology/OMIM/MTHU000204

http://purl.bioontology.org/ontology/OMIM/MTHU000206

http://purl.bioontology.org/ontology/OMIM/MTHU036538

http://purl.bioontology.org/ontology/OMIM/MTHU002160

http://purl.bioontology.org/ontology/OMIM/MTHU000225

http://purl.bioontology.org/ontology/OMIM/MTHU000207

http://purl.bioontology.org/ontology/OMIM/MTHU000205

http://purl.bioontology.org/ontology/OMIM/MTHU000081

http://purl.bioontology.org/ontology/OMIM/MTHU000208

http://purl.bioontology.org/ontology/OMIM/MTHU000199

http://purl.bioontology.org/ontology/OMIM/MTHU000228

http://purl.bioontology.org/ontology/OMIM/MTHU000196

http://purl.bioontology.org/ontology/OMIM/MTHU043000

http://purl.bioontology.org/ontology/OMIM/MTHU000211

http://purl.bioontology.org/ontology/OMIM/MTHU000145

http://purl.bioontology.org/ontology/OMIM/MTHU000210

http://purl.bioontology.org/ontology/OMIM/MTHU000235

http://purl.bioontology.org/ontology/OMIM/MTHU000002
MIMTYPEMEANING

Phenotype description, molecular basis known.
notation

610377
OMIM Entry Type

3
OMIM MimType Value

pound
prefLabel

MEVALONIC ACIDURIA
Scope Statement

Rash, edema, and arthralgia may occur during crisis [MISCELLANEOUS]

Recurrent febrile crises with lymphadenopathy, hepatosplenomegaly, vomiting, and diarrhea [MISCELLANEOUS]

Febrile crises decrease with age, with ataxia becoming the predominant symptom (in some patients) [MISCELLANEOUS]

Caused by mutation in the mevalonate kinase gene (MVK, 251170.0001) [MOLECULAR BASIS]

Allelic to hyperimmunoglobulinemia D syndrome (HIDS, 260920) [MISCELLANEOUS]

Onset of crises in early childhood [MISCELLANEOUS]
tui

T047
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MDRGER/10072219 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D054078 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/718558008 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10072219 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/718558008 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MSHFRE/D054078 MSHFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10072219 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/X40TA RCD CUI
http://purl.obolibrary.org/obo/MONDO_0012481 EFO LOOM
http://purl.obolibrary.org/obo/DOID_0050452 DOID LOOM
http://purl.obolibrary.org/obo/MONDO_0012481 MONDO LOOM
http://purl.obolibrary.org/obo/DOID_0050452 CLO LOOM
http://purl.obolibrary.org/obo/DOID_0050452 DTO LOOM
http://purl.obolibrary.org/obo/DOID_0050452 BAO LOOM
http://purl.obolibrary.org/obo/DOID_0050452 HHEAR LOOM
http://purl.obolibrary.org/obo/DOID_0050452 NIFSTD LOOM
http://purl.obolibrary.org/obo/DOID_0050452 FNS-H LOOM
http://identifiers.org/omim/610377 REXO LOOM
http://identifiers.org/omim/610377 GEXO LOOM
http://identifiers.org/omim/610377 RETO LOOM
http://www.owl-ontologies.com/NPOntology.owl#DOID_0050452 NATPRO LOOM
http://purl.bioontology.org/ontology/MEDDRA/10072219 MEDDRA LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/718558008 SNOMEDCT LOOM
http://purl.obolibrary.org/obo/MONDO_0012481 DOVES LOOM
http://www.gamuts.net/entity#Mevalonic_aciduria GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_403 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_29 ORDO LOOM
http://purl.obolibrary.org/obo/OMIM_610377 CCO LOOM