Skip to main content

Medical Subject Headings

Search from vocabulary

Content language

Concept information

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
Skin and Connective Tissue Diseases > Skin Diseases > Skin Diseases, Genetic > Hereditary Autoinflammatory Diseases > Mevalonate Kinase Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Skin Diseases, Genetic > Hereditary Autoinflammatory Diseases > Mevalonate Kinase Deficiency
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
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 > Brain Diseases, Metabolic, Inborn > 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 > Metabolism, Inborn Errors > Peroxisomal Disorders > Mevalonate Kinase Deficiency

Preferred term

Mevalonate Kinase Deficiency  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Aciduria, Mevalonic
  • Hyperimmunoglobulinemia D
  • Mevalonic Aciduria

Scope note

  • 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.

History note

  • 2008

In other languages

URI

http://www.yso.fi/onto/mesh/D054078

Download this concept:

RDF/XML TURTLE JSON-LD Created 7/9/07, last modified 6/8/15