SLCentral Directory - Health - Conditions And Diseases - C Palsy@ (143); Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (1); Cervical http://www.slcentral.com/directory/index.php/Health/Conditions_and_Diseases/C/
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ECI: Medical Diagnoses C 756.9. Cerebrocostomandibular (SmithTheiler-Schachenmann) Syndrome. 759.89. cerebrohepatorenal syndrome. 759.89. CHARGE Syndrome (CHARGE Association). 756.4. http://www.eci.state.tx.us/meddiagnosesC.htm
Extractions: Return Home Medical Diagnoses Medical diagnoses are listed alphabetically. Simply click the letter of the alphabet that is the first letter of the diagnosis. A B C D ... P Q R S T U V W X Y Z C ICD-9 Code Diagnosis Camptomelic Dysplasia (CMD I, Camptomelic Dwarfism) Canavan Disease Carpenter Syndrome (Acrocephalopolysyndactyly) Caudal Regression Syndrome (Sirenomelia) Cerebellar Astrocytoma Cerebral Ataxia, Congenital Cerebral Cysts, Congenital Cerebral Dysplasia Cerebral Gigantism (Soto's Syndrome) Cerebral Palsy, Infantile, Diplegic (Congenital Diplegia, Paraplegia) Cerebral Palsy, Infantile, Hemiplegic (Congenital Hemiplegia) Cerebral Palsy, Infantile, Monoplegic Cerebral Palsy, Infantile, Other Specified Cerebral Palsy, Infantile, Quadriplegic Cerebral Palsy, Infantile, Unspecified Cerebrocostomandibular (Smith-Theiler-Schachenmann) Syndrome Cerebrohepatorenal Syndrome CHARGE Syndrome (CHARGE Association) Chondrodysplasia Punctata Syndromes (Calcificans Congenita) Chromosomal Anomalies - 10p+ Chromosomal Anomalies - 10q+ Chromosomal Anomalies - 11p- Chromosomal Anomalies - 12p- Chromosomal Anomalies - 13q- Chromosomal Anomalies - 13q+ Chromosomal Anomalies - 18q- Chromosomal Anomalies - 21q- Chromosomal Anomalies - 22q- Chromosomal Anomalies - 3q+ Chromosomal Anomalies - 4p- Chromosomal Anomalies - 4p+ Chromosomal Anomalies - 4q- Chromosomal Anomalies - 4q+ Chromosomal Anomalies - 5p- (Cri Du Chat or Cat's Cry)
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)
ZELLWEGER SYNDROME Name. ZELLWEGER SYNDROME Synonyms. cerebrohepatorenal syndrome (codes). Definition. An autosomal recessive peroxisomal disorder that http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=381
Kennedy Krieger Institute Metabolic Disorders Peroxisomal Disorders Zellweger Syndrome (cerebrohepatorenal syndrome); X-Linked Adrenoleukodystrophy; Refsum Disease. Related KKI http://www.kennedykrieger.org/kki_diag.jsp?pid=1093
Entrez PubMed Abstract, History of the cerebrohepatorenal syndrome of Zellweger and other peroxisomal disorders. South Med J. 1988 Mar;81(3)35764. Review. http://www.biomedcentral.com/pubmed/related/15102341
Extractions: Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order Items 1-20 of 101 of 6 Next Breitling R. Related Articles, Links Pathogenesis of peroxisomal deficiency disorders (Zellweger syndrome) may be mediated by misregulation of the GABAergic system via the diazepam binding inhibitor.
Generalized Peroxisomal Defects spectrum is comprised of three disorders Zellweger syndrome (ZS; also has been referred to as cerebrohepatorenal syndrome), neonatal adrenoleukodystrophy (NALD 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).
Research Faculty - Amiya K. Hajra has been confirmed by the finding that in genetic diseases involving peroxisomal disorders, such as in Zellweger cerebrohepatorenal syndrome, the tissues of http://www.med.umich.edu/mhri/researchfaculty/hajra.htm
Extractions: The research in this laboratory centers on the mechanism and control of phospholipid biogenesis at the enzymic and genetic levels, and also on the role of phospholipids in signal transduction across biological membranes. E. coli and we have used them to study their catalytic mechanisms and to raise specific antibodies to help identify the native enzymes and also to study the transcriptional and translational controls of their biogenesis under different physiological conditions. Recent findings indicate that not only ether lipids but cellular non-ether glycerolipids, such as triglycerides in adipose tissue, are also synthesized via the acyl DHAP pathway. We are also involved in studying the generation and metabolism of lipid second messengers, such as diacylglycerol (DAG), in biological signal transduction. We have developed a method for quantitative molecular species analysis of DAG to differentiate among its various cellular roles. Using this method, we have shown that following receptor activation, both inositol and choline-containing lipids break down to form DAG. However, the DAG formed from inositol lipids is recycled back to the parent lipids, while the DAG from choline- containing lipids is not recycled. The physiological function and the mechanism of recycling of the large amount of DAG formed after chronic receptor activation are being studied in our laboratory.
Descipher™ - Disease And Condition Index - C cerebral infarction cerebral ischemia, transient cerebral palsy cerebral pseudosclerosis cerebral thrombosis cerebrohepatorenal syndrome cerebrospinal fever http://www.descipher.com/argo/diseases/c/
Extractions: Disease Injury Nutrition Poison ... Prevention Congenital cataract Alternative names: Cataract - congenital Definition: a cataract is any clouding of the lens of the eye. a congenital cataract is an opacity of the lens that occurs in the fetus at some time during pregnancy and is present at birth. Causes, incidence, and risk factors: Although there are many diseases and inherited disorders that can lead to congenital cataracts , the actual incidence of congenital cataracts is low. In most patients with congenital cataract, no specific cause can be identified. This is a partial list of possible causes of congenital cataracts: Review Date: 6/6/01 Reviewed By: Edward B. Feinberg, M.D., M.P.H., Department of Ophthalmology, Boston University School of Medicine and Harvard Medical School, Boston, MA. Review provided by VeriMed Healthcare Network. The information provided herein should not be used for diagnosis or treatment of any medical condition. It is provided for your general information and is not a substitute for medical care or supervised medical treatment. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. adam.com is a founding member of Hi-Ethics
Arch Neurol -- Abstracts: Arneson Et Al. 39 (11): 713 An infant with clinical presentation of the cerebrohepatorenal syndrome (CHRS) of Zellweger was found to have increased plasma and urinary concentrations of http://archneur.ama-assn.org/cgi/content/abstract/39/11/713
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
Lukol Directory - Health Conditions And Diseases C Palsy (157). Cerebrocostomandibular Syndrome (2), cerebrohepatorenal syndrome (5), Cerebrotendinous Xanthomatosis (1). Cervical Cancer http://www.lukol.com/Top/Health/Conditions_and_Diseases/C/
Extractions: FORUM Length: 373 aa , molecular weight: 42139 Da , CRC64 checksum: MLRSVWNFLK RHKKKCIFLG TVLGGVYILG KYGQKKIREI QEREAAEYIA QARRQYHFES 60 NQRTCNMTVL SMLPTLREAL MQQLNSESLT ALLKNRPSNK LEIWEDLKII SFTRSTVAVY 120 STCMLVVLLR VQLNIIGGYI YLDNAAVGKN GTTILAPPDV QQQYLSSIQH LLGDGLTELI 180 TVIKQAVQKV LGSVSLKHSL SLLDLEQKLK EIRNLVEQHK SSSWINKDGS KPLLCHYMMP 240 DEETPLAVQA CGLSPRDITT IKLLNETRDM LESPDFSTVL NTCLNRGFSR LLDNMAEFFR 300 PTEQDLQHGN SMNSLSSVSL PLAKIIPIVN GQIHSVCSET PSHFVQDLLT MEQVKDFAAN 360 VYEAFSTPQQ LEK 373 // UniProt ensEMBL Entrez RZPD ... EBI-Hinxton-"Uniprot-Swissprot-TrEMBL" database General information Entry name Accession number Created Rel. 37, 15-DEC-1998 Sequence update Rel. 37, 15-DEC-1998 Annotation update Rel. 43, 29-MAR-2004 Description and origin of the Protein Description Peroxisomal assembly protein PEX3 (Peroxin-3). Gene name(s) Organism source Homo sapiens (Human).
Membrane_Group fibrosis, congenital hypercholesterolemia, cancer, muscular dystrophy, cardiovascular diseases, arteriosclerosis and cerebrohepatorenal syndrome, just to name http://www.membranegroup.ualberta.ca/WebPages/About.htm
Extractions: RESEARCH GROUP Home About Directory Facilities ... Contact The Molecular Biology of Membrane Proteins Research Group was established in 1991 within the Faculty of Medicine and Dentistry and with the support of a Group Grant from the Canadian Institutes of Health Research. In 2001 the Group merged with the Faculty's Membrane Transport Group to form the CIHR Membrane Protein Research Group.
C From Linkspider UK Health Directory Cerebrocostomandibular Syndrome; cerebrohepatorenal syndrome; Cerebrotendinous Xanthomatosis; Cervical Cancer; Cervical Dysplasia; Chagas http://linkspider.co.uk/Health/ConditionsandDiseases/C/
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C In Health > Conditions And Diseases Palsy@ (142); Cerebrocostomandibular Syndrome@ (2); cerebrohepatorenal syndrome@ (5); Cerebrotendinous Xanthomatosis@ (1); Cervical http://ilectric.com/glance/Health/Conditions_and_Diseases/C/
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