|
1 / 1
|
DeCS
|
|
 |
|
Descritor Inglês:
|
|
Mevalonate Kinase Deficiency
|
|
Descritor Espanhol:
|
|
Deficiencia de Mevalonato Quinasa
|
|
Descritor Português:
|
|
Deficiência de Mevalonato Quinase
|
|
Sinônimos Inglês:
|
|
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
|
|
Categoria:
|
|
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
|
|
Definição Inglês:
|
|
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. |
|
Nota Histórica Inglês:
|
|
2008
|
|
Qualificadores Permitidos Inglês:
|
|
|
|
Número do Registro:
|
|
52588
|
|
Identificador Único:
|
|
D054078
|
Ocorrência na BVS:
|
|
|
Similar:
|
|
DeCS
|