MeSH Browser

MeSH Heading: Zellweger Syndrome
Tree Number(s): C06.552.970; C10.228.140.163.100.968; C12.050.351.968.419.978; C12.200.777.419.978; C12.950.419.978; 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
Unique ID: D015211
RDF Unique Identifier: http://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.
Entry Term(s): Cerebro-Hepato-Renal Syndrome; Cerebrohepatorenal Syndrome; PBD, ZSS; Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum; Zellweger Disease; Zellweger Spectrum; Zellweger Syndrome Spectrum; Zellweger's Syndrome; Zellweger-Like Syndrome
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
Date Established: 1989/01/01
Date of Entry: 1988/05/04
Revision Date: 2021/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Digestive System Diseases [C06]
- Liver Diseases [C06.552]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Urogenital Diseases [C12]
- Female Urogenital Diseases and Pregnancy Complications [C12.050]
  - Female Urogenital Diseases [C12.050.351]
    - Urologic Diseases [C12.050.351.968]
      - Kidney Diseases [C12.050.351.968.419]
        
        AIDS-Associated Nephropathy [C12.050.351.968.419.050]
        
        Anuria [C12.050.351.968.419.078]
        
        Diabetes Insipidus [C12.050.351.968.419.135]
        
        Diabetic Nephropathies [C12.050.351.968.419.192]
        
        Hepatorenal Syndrome [C12.050.351.968.419.291]
        
        Hydronephrosis [C12.050.351.968.419.307]
        
        Hyperoxaluria [C12.050.351.968.419.313]
        
        Hypertension, Renal [C12.050.351.968.419.331]
        
        Kidney Cortex Necrosis [C12.050.351.968.419.393]
        
        Kidney Diseases, Cystic [C12.050.351.968.419.403]
        
        Kidney Neoplasms [C12.050.351.968.419.473]
        
        Kidney Papillary Necrosis [C12.050.351.968.419.493]
        
        Nephritis [C12.050.351.968.419.570]
        
        Nephrocalcinosis [C12.050.351.968.419.590]
        
        Nephrolithiasis [C12.050.351.968.419.600]
        
        Nephrosclerosis [C12.050.351.968.419.610]
        
        Nephrosis [C12.050.351.968.419.630]
        
        Perinephritis [C12.050.351.968.419.685]
        
        Renal Artery Obstruction [C12.050.351.968.419.775]
        
        Renal Insufficiency [C12.050.351.968.419.780]
        
        Renal Nutcracker Syndrome [C12.050.351.968.419.787]
        
        Chronic Kidney Disease-Mineral and Bone Disorder [C12.050.351.968.419.795]
        
        Renal Tubular Transport, Inborn Errors [C12.050.351.968.419.815]
        
        Tuberculosis, Renal [C12.050.351.968.419.912]
        
        Uremia [C12.050.351.968.419.936]
        
        Zellweger Syndrome [C12.050.351.968.419.978]

Urogenital Diseases [C12]
- Male Urogenital Diseases [C12.200]
  - Urologic Diseases [C12.200.777]
    - Kidney Diseases [C12.200.777.419]

Urogenital Diseases [C12]
- Urologic Diseases [C12.950]
  - Kidney Diseases [C12.950.419]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Congenital Abnormalities [C16.131]
  - Abnormalities, Multiple [C16.131.077]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Peroxisomal Disorders [C16.320.565.663]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Peroxisomal Disorders [C18.452.648.663]

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.
Terms: Zellweger Syndrome Preferred Term
Term UI T044477
Date01/01/1999
LexicalTag EPO
ThesaurusID; Cerebro-Hepato-Renal Syndrome
Term UI T044478
Date05/04/1988
LexicalTag NON
ThesaurusID UNK (19XX); Cerebrohepatorenal Syndrome
Term UI T044475
Date05/04/1988
LexicalTag NON
ThesaurusID; Zellweger Disease
Term UI T370933
Date11/03/1999
LexicalTag EPO
ThesaurusID NLM (2000); Zellweger's Syndrome
Term UI T044476
Date05/04/1988
LexicalTag EPO
ThesaurusID UNK (19XX)

Zellweger-Like Syndrome Related

Zellweger Spectrum Broader

Concept UI: M0583999
Terms: Zellweger Spectrum Preferred Term
Term UI T842790
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014); PBD, ZSS
Term UI T843886
Date05/09/2013
LexicalTag ABB
ThesaurusID GHR (2014); Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum
Term UI T842792
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014); Zellweger Syndrome Spectrum
Term UI T842793
Date04/18/2013
LexicalTag EPO
ThesaurusID GHR (2014)

Zellweger Syndrome MeSH Descriptor Data 2025