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deficit mevalonátkinázy
SYS d054078 LBL 00000cz--a2200000n--4500 005 20250606214900.8 008 080101|||anznnbabn-----------|-a|a------ 040 $b slo $a BA006 $d BA006 $d BA006 $d BA006 $d BA006 $d BA006 065 $a C10.228.140.163.100.593 065 $a C15.378.147.542.319 065 $a C16.320.382.750 065 $a C16.320.565.189.593 065 $a C16.320.565.663.430 065 $a C18.452.132.100.593 065 $a C18.452.648.189.593 065 $a C18.452.648.663.430 065 $a C20.683.460.319 066 $a 01 $c 03 150 $a deficit mevalonátkinázy $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Hyperimmunoglobulinemia D $2 eng 450 $w v $a Mevalonicaciduria $2 eng 450 $w v $a deficit mevalonát kinázy $2 slo 450 $w v $a hyperimunoglobulinémia D $2 slo 450 $w v $a nedostatok mevalonátkinázy $2 slo 450 $w v $a acidúria mevalónová $2 slo 450 $w v $a syndróm hyper-IgD $2 slo 450 $w v $a horúčka periodická, holandský typ $2 slo 450 $w v $a syndróm hyperimunoglobulinémie D a periodickej horúčky $2 slo 450 $w v $a hyper IgD syndróm periodickej horúčky $2 slo 665 $a 2008 $2 eng 680 9-
$i 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. $2 eng 750 -2
$a Mevalonate Kinase Deficiency $2 eng 980 $x M
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