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DeCS
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Descriptor Inglés:
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Mevalonate Kinase Deficiency
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Descriptor Español:
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Deficiencia de Mevalonato Quinasa
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Descriptor Portugués:
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Deficiência de Mevalonato Quinase
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Sinónimos Inglés:
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Aciduria, Mevalonic
Hyper IgD Syndrome
Hyper IgD Syndromes
Hyper-IgD Syndrome
Hyper-IgD Syndromes
Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D And Periodic Fever Syndrome
Kinase Deficiencies, Mevalonate
Kinase Deficiency, Mevalonate
Mevalonate Kinase Deficiencies
Mevalonic Aciduria
Mevalonicaciduria
Mevalonicacidurias
Periodic Fever, Dutch Type
Syndrome, Hyper-IgD
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Categoría:
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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
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Definición Inglés:
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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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Nota Histórica Inglés:
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2008
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Calificadores Permitidos Inglés:
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Número del Registro:
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52588
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Identificador Único:
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D054078
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Ocurrencia en la BVS:
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Similar:
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DeCS
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