01
Diseases
Deficiency of mevalonate kinase
deficiency of mevalonate kinase
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Deficiency of mevalonate kinase
- Standard Disease Name
- deficiency of mevalonate kinase
- MeSH Tree
- No data
- ICD-10
- M04.1
Identifiers
- DO ID
- No data
- MeSH ID
- D054078
- OMIM ID
- No data
- UMLS ID
- C0342731
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_NICHD_1602D:An autoinflammatory disease caused by mutations in the mevalonate kinase (MVK) gene leading to partial deficiency. It is characterized by attacks of inflammation with fever, rash, lymphadenopathy, splenomegaly and serositis along with increased acute phase reactants. Some patients exhibit elevations in immunoglobulin D (hyperimmunoglobulin D). This disease is distinct from mevalonic aciduria caused by complete deficiency of MVK.|NCI2016_02D:A very rare autosomal recessive disorder of cholesterol biosynthesis. It is caused by a deficiency of the enzyme mevalonate kinase, resulting in the accumulation of mevalonic acid in the urine. Signs and symptoms include psychomotor retardation, ataxia, recurrent fevers, skin rash, hepatosplenomegaly, and lymphadenopathy.|MSH2017_2016_08_12: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.