Mevalonate Kinase Deficiency [nedostatek mevalonátkinázy]
- Terms
-
deficience mevalonátkinázy
deficit mevalonát kinázy
hyper-IgD syndrom
hyperimunoglobulinemie D
hyperimunoglobulinémie D
hyperimunoglobulinemie D a periodický febrilní syndrom
mevalonátkinasa - nedostatek
mevalonová acidurie
nedostatek mevalonát kinázy
syndrom deficience mevalonát kinázy
syndrom hyper-IgD
-
Hyper IgD Syndrome
Hyper-IgD Syndrome
Hyperimmunoglobulinemia D
Hyperimmunoglobulinemia D And Periodic Fever Syndrome
Mevalonic Aciduria
Mevalonicaciduria
Periodic Fever, Dutch Type
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.
- DUI
- D054078 MeSH Browser
- CUI
- M0501212
- History note
- 2008
- Public note
- 2008
Allowable subheadings
- BL
- blood
- CF
- cerebrospinal fluid
- CI
- chemically induced
- CL
- classification
- CO
- complications 1
- DI
- diagnosis 5
- DG
- diagnostic imaging
- DH
- diet therapy
- DT
- drug therapy 5
- EC
- economics
- EM
- embryology
- EN
- enzymology
- EP
- epidemiology
- EH
- ethnology
- ET
- etiology 5
- GE
- genetics 5
- HI
- history
- IM
- immunology 1
- ME
- metabolism 1
- MI
- microbiology
- MO
- mortality
- NU
- nursing
- PS
- parasitology
- PA
- pathology 1
- PP
- physiopathology 1
- PC
- prevention & control
- PX
- psychology
- RT
- radiotherapy
- RH
- rehabilitation
- SU
- surgery
- TH
- therapy 1
- UR
- urine
- VE
- veterinary
- VI
- virology