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Descriptor English: Zellweger Syndrome
Descriptor Spanish: Síndrome de Zellweger
Descriptor síndrome de Zellweger
Entry term(s) síndrome cerebrohepatorrenal
síndrome tipo Zellweger
Scope note: Trastorno autosómico recesivo debido a defectos de la biogénesis del PEROXISOMA que afecta a más de 13 genes que codifican proteínas peroxina de la membrana y matriz del peroxisoma. El síndrome de Zellweger se presenta típicamente en el periodo neonatal con características como cráneo dismórfico, HIPOTONÍA MUSCULAR, SORDERA NEUROSENSORIAL, compromiso visual, CONVULSIONES y degeneración progresiva del RIÑÓN e HÍGADO. El síndrome tipo Zellweger alude a los fenotipos similares al Zellweger neonatal pero observado en niños o adultos con biogénesis de peroxisomas aparentemente intacta.
Descriptor Portuguese: Síndrome de Zellweger
Descriptor French: Syndrome de Zellweger
Entry term(s): Cerebro Hepato Renal Syndrome
Cerebro-Hepato-Renal Syndrome
Cerebrohepatorenal Syndrome
PBD, ZSS
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Spectrum, Zellweger
Zellweger Disease
Zellweger Like Syndrome
Zellweger Spectrum
Zellweger Syndrome Spectrum
Zellweger's Syndrome
Zellweger-Like Syndrome
Tree number(s): C06.552.970
C10.228.140.163.100.968
C12.777.419.978
C13.351.968.419.978
C16.131.077.970
C16.320.565.189.968
C16.320.565.663.970
C18.452.132.100.968
C18.452.648.189.968
C18.452.648.663.970
RDF Unique Identifier: https://id.nlm.nih.gov/mesh/D015211
Scope note: 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.
Allowable Qualifiers: BL blood
CF cerebrospinal fluid
CI chemically induced
CL classification
CO complications
DG diagnostic imaging
DH diet therapy
DI diagnosis
DT drug therapy
EC economics
EH ethnology
EM embryology
EN enzymology
EP epidemiology
ET etiology
GE genetics
HI history
IM immunology
ME metabolism
MI microbiology
MO mortality
NU nursing
PA pathology
PC prevention & control
PP physiopathology
PS parasitology
PX psychology
RH rehabilitation
RT radiotherapy
SU surgery
TH therapy
UR urine
VE veterinary
VI virology
Previous Indexing: Abnormalities, Multiple (1968-1988)
Brain Diseases (1966-1988)
Kidney Diseases (1966-1988)
Liver Diseases (1966-1988)
Public MeSH Note: 1989
History Note: 1989
DeCS ID: 23866
Unique ID: D015211
Documents indexed in the Virtual Health Library (VHL): Click here to access the VHL documents
Date Established: 1989/01/01
Date of Entry: 1988/05/04
Revision Date: 2015/06/08
Zellweger Syndrome - Preferred
Concept UI M0023373
Scope note 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.
Preferred term Zellweger Syndrome
Entry term(s) Cerebro Hepato Renal Syndrome
Cerebro-Hepato-Renal Syndrome
Cerebrohepatorenal Syndrome
Zellweger Disease
Zellweger's Syndrome
Zellweger-Like Syndrome - Related but not broader or narrower
Concept UI M0336337
Preferred term Zellweger-Like Syndrome
Entry term(s) Zellweger Like Syndrome
Zellweger Spectrum - Broader
Concept UI M0583999
Preferred term Zellweger Spectrum
Entry term(s) PBD, ZSS
Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Spectrum, Zellweger
Zellweger Syndrome Spectrum



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