Mevalonate Kinase Deficiency
"Mevalonate Kinase Deficiency" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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.
| Descriptor ID |
D054078
|
| MeSH Number(s) |
C10.228.140.163.100.593 C15.378.147.542.319 C16.320.382.750 C16.320.565.189.593 C16.320.565.663.430 C18.452.132.100.593 C18.452.648.189.593 C18.452.648.663.430 C20.683.460.319
|
| Concept/Terms |
Mevalonate Kinase Deficiency- Mevalonate Kinase Deficiency
- Kinase Deficiencies, Mevalonate
- Kinase Deficiency, Mevalonate
- Mevalonate Kinase Deficiencies
Mevalonic Aciduria- Mevalonic Aciduria
- Aciduria, Mevalonic
- Mevalonicaciduria
- Mevalonicacidurias
Hyperimmunoglobulinemia D- Hyperimmunoglobulinemia D
- Hyper IgD Syndrome
- Hyper IgD Syndromes
- Periodic Fever, Dutch Type
- Hyper-IgD Syndrome
- Hyper-IgD Syndromes
- Syndrome, Hyper-IgD
- Hyperimmunoglobulinemia D And Periodic Fever Syndrome
|
Below are MeSH descriptors whose meaning is more general than "Mevalonate Kinase Deficiency".
- Diseases [C]
- Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
- Brain Diseases [C10.228.140]
- Brain Diseases, Metabolic [C10.228.140.163]
- Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
- Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
- Hemic and Lymphatic Diseases [C15]
- Hematologic Diseases [C15.378]
- Blood Protein Disorders [C15.378.147]
- Hypergammaglobulinemia [C15.378.147.542]
- Mevalonate Kinase Deficiency [C15.378.147.542.319]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Hereditary Autoinflammatory Diseases [C16.320.382]
- Mevalonate Kinase Deficiency [C16.320.382.750]
- Metabolism, Inborn Errors [C16.320.565]
- Brain Diseases, Metabolic, Inborn [C16.320.565.189]
- Mevalonate Kinase Deficiency [C16.320.565.189.593]
- Peroxisomal Disorders [C16.320.565.663]
- Mevalonate Kinase Deficiency [C16.320.565.663.430]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Brain Diseases, Metabolic [C18.452.132]
- Brain Diseases, Metabolic, Inborn [C18.452.132.100]
- Mevalonate Kinase Deficiency [C18.452.132.100.593]
- Metabolism, Inborn Errors [C18.452.648]
- Brain Diseases, Metabolic, Inborn [C18.452.648.189]
- Mevalonate Kinase Deficiency [C18.452.648.189.593]
- Peroxisomal Disorders [C18.452.648.663]
- Mevalonate Kinase Deficiency [C18.452.648.663.430]
- Immune System Diseases [C20]
- Immunoproliferative Disorders [C20.683]
- Hypergammaglobulinemia [C20.683.460]
- Mevalonate Kinase Deficiency [C20.683.460.319]
Below are MeSH descriptors whose meaning is more specific than "Mevalonate Kinase Deficiency".
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