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Zellweger Syndrome
MeSH HeadingZellweger Syndrome
Tree NumberC06.552.970
Tree NumberC10.228.140.163.100.680.970
Tree NumberC12.777.419.978
Tree NumberC13.351.968.419.978
Tree NumberC16.131.077.970
Tree NumberC16.320.565.189.680.970
Tree NumberC16.320.565.663.970
Tree NumberC18.452.132.100.680.970
Tree NumberC18.452.648.189.680.970
Tree NumberC18.452.648.663.970
Scope NoteAn 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 TermCerebro-Hepato-Renal Syndrome
Entry TermCerebrohepatorenal Syndrome
Entry TermZellweger Disease
Entry TermZellweger's Syndrome
Entry TermZellweger-Like Syndrome
Allowable QualifiersBL CF CI CL CO DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RA RH RI RT SU TH UL UR US VE VI
Previous Indexing Abnormalities, Multiple (1968-1988)
Previous Indexing Brain Diseases (1966-1988)
Previous Indexing Kidney Diseases (1966-1988)
Previous Indexing Liver Diseases (1966-1988)
History Note1989
Date of Entry19880504
Unique IDD015211


MeSH Tree Structures

 
Digestive System Diseases [C06]
   Liver Diseases [C06.552]
Cholestasis, Intrahepatic [C06.552.150]  +
Fatty Liver [C06.552.241]  +
Focal Nodular Hyperplasia [C06.552.270]
Hepatic Insufficiency [C06.552.308]  +
Budd-Chiari Syndrome [C06.552.347]
Hepatic Veno-Occlusive Disease [C06.552.360]
Hepatitis [C06.552.380]  +
Hepatolenticular Degeneration [C06.552.413]
Hepatopulmonary Syndrome [C06.552.455]
Hepatorenal Syndrome [C06.552.465]
Hypertension, Portal [C06.552.494]  +
Liver Abscess [C06.552.597]  +
Liver Cirrhosis [C06.552.630]  +
Liver Diseases, Alcoholic [C06.552.645]  +
Liver Diseases, Parasitic [C06.552.664]  +
Liver Neoplasms [C06.552.697]  +
Peliosis Hepatis [C06.552.802]
Porphyrias, Hepatic [C06.552.830]  +
Tuberculosis, Hepatic [C06.552.933]
Zellweger Syndrome [C06.552.970]

 
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]
               Peroxisomal Disorders [C10.228.140.163.100.680]
Adrenoleukodystrophy [C10.228.140.163.100.680.100]
Mevalonate Kinase Deficiency [C10.228.140.163.100.680.430]
Refsum Disease [C10.228.140.163.100.680.760]
Refsum Disease, Infantile [C10.228.140.163.100.680.865]
Zellweger Syndrome [C10.228.140.163.100.680.970]

 
Male Urogenital Diseases [C12]
   Urologic Diseases [C12.777]
      Kidney Diseases [C12.777.419]
AIDS-Associated Nephropathy [C12.777.419.050]
Anuria [C12.777.419.078]
Diabetes Insipidus [C12.777.419.135]  +
Diabetic Nephropathies [C12.777.419.192]
Fanconi Syndrome [C12.777.419.250]
Hepatorenal Syndrome [C12.777.419.291]
Hydronephrosis [C12.777.419.307]  +
Hyperoxaluria [C12.777.419.313]  +
Hypertension, Renal [C12.777.419.331]  +
Kidney Cortex Necrosis [C12.777.419.393]
Kidney Diseases, Cystic [C12.777.419.403]  +
Kidney Neoplasms [C12.777.419.473]  +
Kidney Papillary Necrosis [C12.777.419.493]
Nephritis [C12.777.419.570]  +
Nephrocalcinosis [C12.777.419.590]
Nephrolithiasis [C12.777.419.600]  +
Nephrosclerosis [C12.777.419.610]
Nephrosis [C12.777.419.630]  +
Perinephritis [C12.777.419.685]
Renal Artery Obstruction [C12.777.419.775]
Renal Insufficiency [C12.777.419.780]  +
Renal Osteodystrophy [C12.777.419.795]
Renal Tubular Transport, Inborn Errors [C12.777.419.815]  +
Tuberculosis, Renal [C12.777.419.912]
Uremia [C12.777.419.936]  +
Zellweger Syndrome [C12.777.419.978]

 
Female Urogenital Diseases and Pregnancy Complications [C13]
   Female Urogenital Diseases [C13.351]
      Urologic Diseases [C13.351.968]
         Kidney Diseases [C13.351.968.419]
AIDS-Associated Nephropathy [C13.351.968.419.050]
Anuria [C13.351.968.419.078]
Diabetes Insipidus [C13.351.968.419.135]  +
Diabetic Nephropathies [C13.351.968.419.192]
Fanconi Syndrome [C13.351.968.419.250]
Hepatorenal Syndrome [C13.351.968.419.291]
Hydronephrosis [C13.351.968.419.307]  +
Hyperoxaluria [C13.351.968.419.313]  +
Hypertension, Renal [C13.351.968.419.331]  +
Kidney Cortex Necrosis [C13.351.968.419.393]
Kidney Diseases, Cystic [C13.351.968.419.403]  +
Kidney Neoplasms [C13.351.968.419.473]  +
Kidney Papillary Necrosis [C13.351.968.419.493]
Nephritis [C13.351.968.419.570]  +
Nephrocalcinosis [C13.351.968.419.590]
Nephrolithiasis [C13.351.968.419.600]  +
Nephrosclerosis [C13.351.968.419.610]
Nephrosis [C13.351.968.419.630]  +
Perinephritis [C13.351.968.419.685]
Renal Artery Obstruction [C13.351.968.419.775]
Renal Insufficiency [C13.351.968.419.780]  +
Renal Osteodystrophy [C13.351.968.419.795]
Renal Tubular Transport, Inborn Errors [C13.351.968.419.815]  +
Tuberculosis, Renal [C13.351.968.419.912]
Uremia [C13.351.968.419.936]  +
Zellweger Syndrome [C13.351.968.419.978]

 
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
   Congenital Abnormalities [C16.131]
      Abnormalities, Multiple [C16.131.077]
Alagille Syndrome [C16.131.077.065]
Angelman Syndrome [C16.131.077.095]
Bardet-Biedl Syndrome [C16.131.077.112]
Basal Cell Nevus Syndrome [C16.131.077.130]
Beckwith-Wiedemann Syndrome [C16.131.077.133]
Bloom Syndrome [C16.131.077.137]
Branchio-Oto-Renal Syndrome [C16.131.077.208]
Cockayne Syndrome [C16.131.077.250]
Cri-du-Chat Syndrome [C16.131.077.262]
De Lange Syndrome [C16.131.077.272]
Deaf-Blind Disorders [C16.131.077.299]  +
Down Syndrome [C16.131.077.327]
Ectodermal Dysplasia [C16.131.077.350]  +
Gardner Syndrome [C16.131.077.393]
Holoprosencephaly [C16.131.077.410]
Incontinentia Pigmenti [C16.131.077.445]
Laurence-Moon Syndrome [C16.131.077.509]
LEOPARD Syndrome [C16.131.077.525]
Marfan Syndrome [C16.131.077.550]
Mobius Syndrome [C16.131.077.578]
Nail-Patella Syndrome [C16.131.077.606]
Nevus Sebaceous of Jadassohn [C16.131.077.633]
Oculocerebrorenal Syndrome [C16.131.077.661]
Orofaciodigital Syndromes [C16.131.077.677]
Pallister-Hall Syndrome [C16.131.077.690]
POEMS Syndrome [C16.131.077.703]
Prader-Willi Syndrome [C16.131.077.730]
Proteus Syndrome [C16.131.077.740]
Prune Belly Syndrome [C16.131.077.745]
Rubella Syndrome, Congenital [C16.131.077.790]
Rubinstein-Taybi Syndrome [C16.131.077.804]
Short Rib-Polydactyly Syndrome [C16.131.077.850]
Smith-Lemli-Opitz Syndrome [C16.131.077.860]
Trichothiodystrophy Syndromes [C16.131.077.899]
Waardenburg's Syndrome [C16.131.077.938]
Wolf-Hirschhorn Syndrome [C16.131.077.944]
Wolfram Syndrome [C16.131.077.951]
Zellweger Syndrome [C16.131.077.970]

 
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]
            Peroxisomal Disorders [C16.320.565.189.680]
Adrenoleukodystrophy [C16.320.565.189.680.100]
Mevalonate Kinase Deficiency [C16.320.565.189.680.430]
Refsum Disease [C16.320.565.189.680.760]
Refsum Disease, Infantile [C16.320.565.189.680.865]
Zellweger Syndrome [C16.320.565.189.680.970]

 
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]
Acatalasia [C16.320.565.663.025]
Adrenoleukodystrophy [C16.320.565.663.112]
Chondrodysplasia Punctata, Rhizomelic [C16.320.565.663.200]
Mevalonate Kinase Deficiency [C16.320.565.663.480]
Refsum Disease [C16.320.565.663.760]
Refsum Disease, Infantile [C16.320.565.663.865]
Zellweger Syndrome [C16.320.565.663.970]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Brain Diseases, Metabolic [C18.452.132]
         Brain Diseases, Metabolic, Inborn [C18.452.132.100]
            Peroxisomal Disorders [C18.452.132.100.680]
Adrenoleukodystrophy [C18.452.132.100.680.100]
Mevalonate Kinase Deficiency [C18.452.132.100.680.430]
Refsum Disease [C18.452.132.100.680.760]
Refsum Disease, Infantile [C18.452.132.100.680.865]
Zellweger Syndrome [C18.452.132.100.680.970]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Brain Diseases, Metabolic, Inborn [C18.452.648.189]
            Peroxisomal Disorders [C18.452.648.189.680]
Adrenoleukodystrophy [C18.452.648.189.680.100]
Mevalonate Kinase Deficiency [C18.452.648.189.680.430]
Refsum Disease [C18.452.648.189.680.760]
Refsum Disease, Infantile [C18.452.648.189.680.865]
Zellweger Syndrome [C18.452.648.189.680.970]

 
Nutritional and Metabolic Diseases [C18]
   Metabolic Diseases [C18.452]
      Metabolism, Inborn Errors [C18.452.648]
         Peroxisomal Disorders [C18.452.648.663]
Acatalasia [C18.452.648.663.025]
Adrenoleukodystrophy [C18.452.648.663.112]
Chondrodysplasia Punctata, Rhizomelic [C18.452.648.663.200]
Mevalonate Kinase Deficiency [C18.452.648.663.480]
Refsum Disease [C18.452.648.663.760]
Refsum Disease, Infantile [C18.452.648.663.865]
Zellweger Syndrome [C18.452.648.663.970]

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