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Disease Mevalonate Kinase Deficiency

Name Mevalonate Kinase Deficiency
Synonyms Aciduria, Mevalonic | HIDS | Hyper IgD Syndrome | Hyper-IgD Syndrome | Hyper IgD Syndromes | Hyper-IgD Syndromes | Hyperimmunoglobulinemia D | Hyperimmunoglobulinemia D And Periodic Fever Syndrome | Kinase Deficiencies, Mevalonate | Kinase Deficiency, Mevalonate | MEVA | Mevalonate Kinase Deficiencies | Mevalonicaciduria | Mevalonic Aciduria | Mevalonicacidurias | Periodic Fever, Dutch Type | Syndrome, Hyper-IgD
Definition 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.
Categories Blood disease | Genetic disease (inborn) | Immune system disease | Metabolic disease | Nervous system disease
MeSH® ID D054078
OMIM® IDs 260920 | 610377
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
2. DiseasesHemic and Lymphatic Diseases Has associated chemicals Has associated genes Has associated exposure references Hematologic Diseases Has associated chemicals Has associated genes Has associated exposure references Blood Protein Disorders Has associated chemicals Has associated genes Has associated exposure references Hypergammaglobulinemia Has associated chemicals Has associated genes Has associated exposure references Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
3. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Hereditary Autoinflammatory Diseases Has associated chemicals Has associated genes Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
6. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Peroxisomal Disorders Has associated chemicals Has associated genes Mevalonate Kinase Deficiency Has associated chemicals Has associated genes
9. DiseasesImmune System Diseases Has associated chemicals Has associated genes Has associated exposure references Immunoproliferative Disorders Has associated chemicals Has associated genes Has associated exposure references Hypergammaglobulinemia Has associated chemicals Has associated genes Has associated exposure references Mevalonate Kinase Deficiency Has associated chemicals Has associated genes

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