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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Mevalonate Kinase Deficiency | Legal notice |
Other terms
Kinase Deficiencies, Mevalonate,Kinase Deficiency, Mevalonate,Mevalonate Kinase Deficiencies,Mevalonic Aciduria,Aciduria, Mevalonic,Mevalonicaciduria,Mevalonicacidurias,Hyperimmunoglobulinemia D,Periodic Fever, Dutch Type,Hyper-IgD Syndrome,Hyper IgD Syndrome,Hyper-IgD Syndromes,Syndrome, Hyper-IgD,Syndromes, Hyper-IgD
Description
Mevalonate Kinase Deficiency: 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.
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- Peroxisomal Disorders
- Hypergammaglobulinemia
- Peroxisomal Disorders
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- Peroxisomal Disorders
- Peroxisomal Disorders
- Hypergammaglobulinemia
Legal notice
The U.S. National Library of Medicine is the creator, maintainer, and provider of the data above.
The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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