NORD - National Organization For Rare Disorders, Inc. Synonyms of Zellweger Syndrome. Bowen Syndrome; cerebrohepatorenal syndrome.Disorder Subdivisions. General Discussion Zellweger syndrome is a rare, http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Zellweger Syn
Extractions: (advertisement) Synonyms, Key Words, and Related Terms: developmental glaucoma, open angle, closed angle, vision loss, visual deficit, ocular anomalies, systemic anomalies Background: This article discusses developmental glaucomas with associated ocular or systemic anomalies and the most identifiable causes. Aniridia and Peters Anomaly are covered in other articles. Glaucoma associated with congenital ocular abnormalities includes the following: Glaucomas associated with systemic congenital abnormalities include the following: Weil-Marchesani syndrome Glaucoma in phakomatosis Oculocerebrorenal (Lowe) syndrome Hallermann-Streiff syndrome Cerebrohepatorenal syndrome (Zellweger) syndrome Stickler syndrome Trisomy syndromes (Down syndrome, Trisomy D, Edwards syndrome)
Extractions: (advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Neurology Pediatric Neurology Last Updated: April 28, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Aziza Chedrawi, MD , Consulting Staff, Division of Pediatric Neurology, Texas Children's Hospital, Methodist Hospital Coauthor(s): Gary Clark, MD , Assistant Professor, Department of Pediatrics, Section of Neurology, Texas Children's Hospital, Baylor College of Medicine Aziza Chedrawi, MD, is a member of the following medical societies: American Academy of Neurology Editor(s): David Griesemer, MD , Chairman of Neurology, Associate Professor, Departments of Pediatrics and Neurology, Medical University of South Carolina; Francisco Talavera, PharmD, PhD
DARS Early Childhood Intervention Services 759.89, cerebrohepatorenal syndrome. 759.89, CHARGE Syndrome (CHARGE Association)*.756.4, Chondrodysplasia Punctata Syndromes (Calcificans Congenita) http://www.dars.state.tx.us/ecis/resources/diagnoses.asp?letter=c
Penn State Faculty Research Expertise Database (FRED) cerebrohepatorenal syndrome, ZellwegerLike Syndrome. Cerebro-Hepato-Renal Syndrome Cerebro-Hepato-Renal Syndromes, cerebrohepatorenal syndromes http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D015211
214100 ZELLWEGER SYNDROME; ZS They proposed cerebrohepatorenal syndrome as an appropriate designation. Kelley, RI The cerebrohepatorenal syndrome of Zellweger, morphologic and http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:214100] -e
239400 HYPERPIPECOLATEMIA Kelley, RI The cerebrohepatorenal syndrome of Zellweger, morphologic andmetabolic aspects. Am. J. Med. Genet. 16 503517, 1983. 9. Moser, AE; Singh, I.; http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:239400] -e
Extractions: An autosomal recessive peroxisomal disorder that typically presents in the neonatal period and is usually fatal. Clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties. Pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts. Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood (From Adams et al., Principles of Neurology, 6th ed, p946) Synonyms and Source Vocabularies:
Generalized Peroxisomal Defects The Zellweger spectrum is comprised of three disorders Zellweger syndrome (ZS;also has been referred to as cerebrohepatorenal syndrome), http://www.peroxisome.org/Scientist/Biogenesis/generalizeddefectstext.html
Extractions: Peroxisome Biogenesis Disorders The Zellweger spectrum The Zellweger spectrum is comprised of three disorders: Zellweger syndrome (ZS; also has been referred to as cerebrohepatorenal syndrome), neonatal adrenoleukodystrophy (NALD), and infantile Refsum disease (IRD). Collectively, these disorders, along with rhizomelic chondrodysplasia punctata (RCDP; see below) are called the peroxisome biogenesis disorders, or PBDs. These disorders are caused by defects in any of at least 14 genes whose products are required for the proper assembly of the peroxisome. The distinction between the disorders is based on severity, with ZS being the most severe and IRD the least severe. The Zellweger spectrum of diseases are inherited in an autosomal recessive fashion, and the incidence of these disorders is somewhere between 1/25,000 and 1/50,000 births. Clinical phenotypes of the Zellweger spectrum Biochemical Phenotypes of the Zellweger spectrum The biochemical phenotype of these disorders is reflective of the defect in peroxisome biogenesis. Very long chain fatty acid (VLCFA) levels are increased compared to normal, phytanic acid levels are increased, and plasmalogen levels are reduced. There are also high levels of the bile acid intermediates THCA and DHCA, as well as increased levels of the lysine metabolite pipecolic acid. Genetic basis of the Zellweger spectrum As previously stated, diseases of the Zellweger spectrum result from defects in peroxisome biogenesis. Patient cell lines have been divided into 12 complementation groups (CGs), demonstrating that there are at least 12 genes involved in human peroxisome biogenesis. The molecular basis of disease for 11 of these complementation groups has been elucidated (see table below). CG 11 is not part of the Zellweger spectrum, but rather has the distinct phenotype of RCDP (see below).
Select Entries From OMIM -- Online Mendelian Inheritance In Man 268670 RUTLEDGE LETHAL MULTIPLE CONGENITAL ANOMALY SYNDROME *214110cerebrohepatorenal syndrome, VARIANT TYPES *170995 ATPBINDING CASSETTE, http://embryology.med.unsw.edu.au/OMIMfind/eye/congen_cataract.htm
Select Entries From OMIM -- Online Mendelian Inheritance In Man *214110 cerebrohepatorenal syndrome, VARIANT TYPES *170993 PEROXISOMAL MEMBRANEPROTEIN 3; PXMP3 *240300 AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I http://embryology.med.unsw.edu.au/OMIMfind/endocrine/thymus.htm
UniProt Knowledgebase Keyword: Zellweger Syndrome in the cells due to impaired transport of peroxisomal proteins into theperoxisomes. Synonym. cerebrohepatorenal syndrome; CHR syndrome; ZWS. Categories http://www.expasy.org/cgi-bin/get-entries?KW=Zellweger syndrome
Extractions: ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers None Entered in Swiss-Prot in Release 37, December 1998 Sequence was last modified in Release 37, December 1998 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Peroxisomal biogenesis factor 3 Synonyms Peroxin-3
Extractions: This Article correspondence: Submit a response Alert me when this article is cited Alert me when correspondence are posted Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Roscher, A. Articles by Paltauf, F. A Roscher, B Molzer, H Bernheimer, S Stockler, I Mutz and F Paltauf The sequence of reactions involved in plasmalogen biosynthesis has been evaluated in cultured fibroblasts of patients with the cerebrohepatorenal syndrome. A double-label, double-substrate incubation using [1-14C] hexadecanol and 1-0-[9', 10'- 3H]hexadecylglycerol was performed to monitor the relative rates of peroxisomal and microsomal biosynthesic steps. [14C]
Extractions: Vol. 39 No. 11, November 1982 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Arneson DW Ward JC Contact me when this article is cited D. W. Arneson, R. E. Tipton and J. C. Ward An infant with clinical presentation of the cerebrohepatorenal syndrome (CHRS) of Zellweger was found to have increased plasma and urinary concentrations of pipecolic acid. When given a loading dose of DL-pipecolic acid hydrochloride, she showed a reduced clearance rate for that acid. Piperidine, delta 6-piperidine-2-carboxylic acid, and alpha-aminoadipic
Arthrogryposis Multiplex Congenita Zellweger syndrome or cerebrohepatorenal syndrome is characterized by severehypotonia, brachycephaly, widely open fontanels and sutures, hepatomegaly, http://pediatricneuro.com/alfonso/pg160.htm
Extractions: The diagnosis of this syndrome in females is very difficult because the most characteristic features (cryptorchidism and hypospadia) are not present. Brain and brainstem malformations may be present. Arthrogryposis is more prominent in the hands. Smith-Lemli-Opitz syndrome is due to a severe defect in cholesterol biosynthesis. The defective enzyme is 7-dehydrocholesterol reductase. This defect leads to a high level of the cholesterol precursor 7-dehydrocholesterol and low cholesterol levels. The low cholesterol levels lead to abnormalities of mitochondrial function, hormone synthesis, myelinization and bile acid and vitamin D metabolism. Smith-Lemli-Opitz syndrome can be diagnosed prenatally or postnatally by measuring 7-dehydrocholesterol using chromatographic assay. Most patients with Smith-Lemli-Opitz syndrome die during the neonatal period. Survivors are severely mentally retarded. Smith-Lemli-Opitz syndrome is an autosomal recessive condition. Zellweger Syndrome Zellweger syndrome or cerebrohepatorenal syndrome is characterized by severe hypotonia, brachycephaly, widely open fontanels and sutures, hepatomegaly, hypospadias and cryptorchidism in males (Figure 160.1), and clitoral hypertrophy in females. Patients with Zellweger syndrome have a prominent forehead, flat occiput, round face, micrognathia, anteverted nares, low-set dysplastic ears, hypertelorism, puffy eyelids, epicanthal folds, glaucoma, cataracts, corneal clouding, and Brushfield spots.
Index Central core disease, 146 Cephalohematoma, 106, 285 Cerebral infarction, 55cerebrohepatorenal syndrome, 113, 160 Cerebrooculo-facio-skeletal syndrome, 162 http://pediatricneuro.com/alfonso/pg311.htm
