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Nutritional and Metabolic Diseases > Metabolic Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Mevalonate Kinase Deficiency
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Brain Diseases, Metabolic > Brain Diseases, Metabolic, Inborn > Mevalonate Kinase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Mevalonate Kinase Deficiency
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Brain Diseases, Metabolic, Inborn > Mevalonate Kinase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Metabolism, Inborn Errors > Peroxisomal Disorders > Mevalonate Kinase Deficiency
Nutritional and Metabolic Diseases > Metabolic Diseases > Metabolism, Inborn Errors > Peroxisomal Disorders > Mevalonate Kinase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Hereditary Autoinflammatory Diseases > Mevalonate Kinase Deficiency
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Hereditary Autoinflammatory Diseases > Mevalonate Kinase Deficiency
Pathological Conditions, Signs and Symptoms > Signs and Symptoms > Hypergammaglobulinemia > Mevalonate Kinase Deficiency
Hemic and Lymphatic Diseases > Hematologic Diseases > Blood Protein Disorders > Hypergammaglobulinemia > Mevalonate Kinase Deficiency
Immune System Diseases > Immunoproliferative Disorders > Hypergammaglobulinemia > Mevalonate Kinase Deficiency

Terme préférentiel

Mevalonate Kinase Deficiency  

Type

  • mesh:Descriptor

Définition

  • 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.

Concept générique

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URI

http://data.loterre.fr/ark:/67375/JVR-SS1XPWM3-C

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RDF/XML TURTLE JSON-LD Date de création 09/07/2007, dernière modification le 08/06/2015