Zellweger Syndrome [Zellwegerův syndrom]
- Terms
-
cerebrohepatorenální syndrom
peroxizomální biogenetická porucha
syndrom podobný Zellwegerovu syndromu
zellwegerovské spektrum
-
Cerebro-Hepato-Renal Syndrome
Cerebrohepatorenal Syndrome
PBD, ZSS
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Zellweger Disease
Zellweger Spectrum
Zellweger Syndrome Spectrum
Zellweger-Like Syndrome
Zellweger's Syndrome
An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
- DUI
- D015211 MeSH Browser
- CUI
- M0023373
- Previous indexing
- Abnormalities, Multiple (1968-1988); Brain Diseases (1966-1988); Kidney Diseases (1966-1988); Liver Diseases (1966-1988)
- History note
- 1989
- Public note
- 1989
Allowable subheadings
- BL
- blood 3
- CF
- cerebrospinal fluid 0
- CI
- chemically induced 0
- CL
- classification 0
- CO
- complications 0
- DI
- diagnosis 2
- DG
- diagnostic imaging 0
- DH
- diet therapy 0
- DT
- drug therapy 2
- EC
- economics 0
- EM
- embryology 0
- EN
- enzymology 0
- EP
- epidemiology 0
- EH
- ethnology 0
- ET
- etiology 0
- GE
- genetics 5
- HI
- history 0
- IM
- immunology 0
- ME
- metabolism 5
- MI
- microbiology 0
- MO
- mortality 1
- NU
- nursing 0
- PS
- parasitology 0
- PA
- pathology 1
- PP
- physiopathology 1
- PC
- prevention & control 0
- PX
- psychology 0
- RT
- radiotherapy 0
- RH
- rehabilitation 0
- SU
- surgery 0
- TH
- therapy 0
- UR
- urine 0
- VE
- veterinary 0
- VI
- virology 0