Rare Pediatric Disease Database WHAT bardetbiedl syndrome (BBS) is a rare genetic disorder characterized by mental bardet-biedl syndrome is now considered as a separate entity. http://www.madisonsfoundation.org/content/3/1/display.asp?did=263
BBS1 - Bardet-Biedl Syndrome 1 Mutations in this gene have been observed in patients with the major form (type1) of bardetbiedl syndrome. The encoded protein may play a role in eye, http://www.urogene.org/kgdb/gene/14.html
Extractions: Human Kidney Gene DataBase Name Bardet-Biedl syndrome 1 Symbol Aliases Gene Product Category UniGene Hs.129213 Reference Sequence mRNA: Protein: OMIM and SNP OMIM: SNP: NCBI SNP Locus LocusLink: Chromosome: 11 Cytoband: 11q13.1 UCSC Genome Map Eesembl Genome Map Summary Mutations in this gene have been observed in patients with the major form (type 1) of Bardet-Biedl syndrome. The encoded protein may play a role in eye, limb, cardiac and reproductive system development. Gene Ontology Expression EST (255 ESTs libraries Tissue Breadth CPM adipose blood bone brain cartilage cervix colon ear eye head and neck heart kidney lung lymph node mammary gland muscle nervous ovary pancreas parathyroid pineal gland placenta prostate skin spleen stomach testis thymus uncharacterized tissue uterus vascular whole body Evidence Mutation in System Syndrom with Kidney Involvment Mykytyn K, Nishimura DY, Searby CC, Beck G, Bugge K, Haines HL, Cornier AS, Cox GF, Fulton AB, Carmi R, Iannaccone A, Jacobson SG, Weleber RG, Wright AF, Riise R, Hennekam RC, Luleci G, Berker-Karauzum S, Biesecker LG, Stone EM, Sheffield VC Evaluation of complex inheritance involving the most common Bardet-Biedlsyndrome locus (BBS1). Am J Hum Genet 2003 Feb;72(2):429-37. Epub 2003 Jan 10.
Extractions: July 28, 2005 Two Simon Fraser University molecular biologists have helped isolate the cause of a potentially fatal rare disease with symptoms that are prevalent in the general population. Working with scientists at the University of California, professor Michel Leroux and post-doctoral fellow Oliver Blacque have discovered what molecular defects in primary cilia cause Bardet-Biedl Syndrome (BBS). Complex hereditary disease The team's groundbreaking findings, published in the July 28, 2005 issue of the prestigious science journal Nature, make the link between normal cilia function and health highly pertinent, notes Leroux. BBS patients suffer from an unusually large number of different ailments. Obesity, blindness and kidney dysfunction are common illnesses that characterize BBS, a complex, hereditary disease that affects one in 160,000 people worldwide. Primary cilia are solitary appendages, meaning there is one per cell. They enable cells to sense chemical or physical activities in their external environment. Cilia are involved in seeing, smelling, hearing, touching, and moving fluids-for example, clearing mucous from the respiratory tract. Some proteins linked to cilia function are essential to life, says Leroux.
LU:research - Lund University Institutional Archive The typical features in our LaurenceMoon-bardet-biedl syndrome patients were Linkage mapping in 29 bardet-biedl syndrome families confirms loci in http://lu-research.lub.lu.se/php/gateway.php?who=lr&method=getfile&file=archive/
Geneticalliance.org bardetbiedl syndrome Support Groups. 1 organization(s) found. previous Page1 of 1 next . Foundation Fighting Blindness 11435 Cronhill Drive http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t
The Turkish Journal Of Pediatrics bardetbiedl syndrome associated with vaginal atresia a case report A caseof familial bardet-biedl syndrome (obesity, slight mental retardation, http://tjp.dergisi.org/text.php3?id=88
*606151 BBS2 GENE; BBS2 In several families with bardetbiedl syndrome, Katsanis et al. In affectedmembers of a family with bardet-biedl syndrome (209900) described by http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:606151] -e
*209901 BBS1 GENE; BBS1 (2002) identified the gene that is mutant in bardetbiedl syndrome-1 (see 209900) . In a consanguineous Puerto Rican family with bardet-biedl syndrome http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:209901] -e
A Child With Crossed Eyes -- Answer Medscape, www.medscape.com. B) bardetbiedl syndrome is incorrect. Try again http://www.medscape.com/content/2004/00/48/47/484718/ans2.html
Bardet-Biedl Syndrome (BBS) - Patient UK bardetbiedl syndrome - Patient UK. A directory of UK health, disease, illnessand related medical websites that provide patient information. http://www.patient.co.uk/showdoc/40001347/
Extractions: PatientPlus articles are written for doctors and so the language can be technical. However, some people find that they add depth to the articles found in the other sections of this website which are written for non-medical people. This genetically heterogeneous disorder has a wide spectrum of clinical features. It follows a recessive pattern of inheritance with a modifier of penetrance (6 loci on 6 different chromosomes) A high incidence is found in Newfoundland (1:17,500 versus 1:160,000 elsewhere), Bedouins (1:13,500) and the Arab population of Kuwait. Male:Female ~ 1·3:1. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa polydactyly syndactyly or brachydactyly (69%); central obesity mental retardation ; and hypogonadism Renal abnormalities are seen in almost all patients (characteristically fetal lobulation and calyceal cysts /diverticula/clubbing) which may cause renal impairment and failure. Other features which may be present include hepatic fibrosis, diabetes mellitus , reproductive abnormalities, endocrine disturbances, short stature myopia strabismus , and cataracts Differential Diagnosis Laurence-Moon syndrome (where affected individuals have a spastic paraparesis but no polydactyly), Cohen syndrome (CS).
Extractions: Extracted from IndMED Verma SC; Saksena SP; Rodrigues FEA; Parihar JKS; Bhargava N CH(Sc), Pune-411040, India Laurence-moon-bardet-biedl syndrome Medical Journal of Armed forces India. 1992-Jul; 48(3): 239-40 ABSTRACT: A rare case of Laurence-Moon-Bardet-Biedl Syndrome in a 6-year-old male child is presented. The child had all the classical features of this syndrome, i.e. pigmentary dystrophy of retina, hypogenitalism, oligophrenia or mental retardation, obesity and polydactyly. KEYWORDS: Bardet-Biedl Syndrome/DI; Bardet-Biedl Syndrome/TH; Night Blindness/DI; Retinal Diseases/DI; Skull/RA; Thorax/RA; Development Disabilities; Human; Male; Child; Case Report References: 6 Record Identifier: NI210825
Science -- Sign In Triallelic Inheritance in bardetbiedl syndrome, a Mendelian Recessive Disorder bardet-biedl syndrome (BBS) is a genetically heterogeneous disorder http://www.sciencemag.org/cgi/content/abstract/293/5538/2256
Extractions: You do not have access to this item: Abstract : Katsanis et al., Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disor..., Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription
Extractions: WWW Medical.WebEnds.com Laurence-Moon-Bardet-Biedl Syndrome; Bardet Biedl Syndrome; Laurence Moon Bardet Biedl Syndrome; Syndrome, Bardet-Biedl; Syndrome, Laurence-Moon-Bardet-Biedl An autosomal recessive disorder characterized by RETINITIS PIGMENTOSA; POLYDACTYLY OBESITY MENTAL RETARDATION ; hypogenitalism; renal dysplasia; and short stature. This syndrome has been distinguished as a separate entity from LAURENCE-MOON SYNDROME . (From J Med Genet 1997 Feb;34(2):92-8)
Débats Listesnof : Syndrome De Laurence-Moon-Bardet-Biedl Translate this page (1988) evaluated 20 of 30 patients with bardet-biedl syndrome identified from (1995) described 2 unrelated girls with bardet-biedl syndrome who also had http://g5d.chez.tiscali.fr/COCNet10/COCMED10/lsnofLBB.htm
Extractions: sommaire Syndrome de Laurence-Moon-Bardet-Biedl Chers Amis Un conseil : http://www.healthgate.com/HealthGate/home.html Yannick LE MER Amicalement Chantal NOVEL Xavier ZANLONGHI Voir E.M.C. Ophtalmologie 21470 A 50, Les syndromes oculo-auditifs, page 12 Cordialement Georges LAROCHE Marc Abitbol avait fait une remarquable mise au point sur ces syndromes. Pourrait-il nous la redonner? ou notre webmaster? Alain BRON *209900 BARDET- BIEDL SYNDROME, TEXT This condition is characterized by mental retardation, pigmentary retinopathy, polydactyly, obesity, and hypogenitalism, and has incorrectly been called LMBB (Laurence-Moon-Bardet-Biedl) syndrome. Ammann (1970) pointed out that these features were present in the patients of Biedl (1922) and Bardet (1920), but that the patients of Laurence and Moon had a distinct disorder with paraplegia and without polydactyly and obesity (see Laurence-Moon syndrome, 245800). As indicated by Ammann's study, residual heterogeneity may exist even after the Laurence-Moon syndrome is separated. In Bedouin families in the Negev region of Israel, presumably the same kindreds as those studied by Kwitek-Black et al. (1993), Elbedour et al. (1994) performed echocardiographic evaluations of cardiac involvement in BBS. They stated that they found cardiac involvement in 50% of cases, justifying inclusion of echocardiographic examination in the clinical evaluation and follow-up of these patients. However, their table 1 gives echocardiographic abnormality in only 7 of 22 cases and these included 1 case of bicuspid aortic valve, 1 case of mild thickening of the interventricular septum, 1 case of 'moderate tricuspid regurgitation,' and 1 case of mild pulmonic valve stenosis. The occurrence of renal abnormality in 11 of the 22 patients on kidney ultrasonography was somewhat more impressive than the cardiac involvement.
Extractions: This article has been cited by other articles: Dietz, W. H., Robinson, T. N. (2005). Overweight Children and Adolescents. N Engl J Med [Full Text] Fath, M. A., Mullins, R. F., Searby, C., Nishimura, D. Y., Wei, J., Rahmouni, K., Davis, R. E., Tayeh, M. K., Andrews, M., Yang, B., Sigmund, C. D., Stone, E. M., Sheffield, V. C. (2005). Mkks-null mice have a phenotype resembling Bardet-Biedl syndrome. Hum Mol Genet [Abstract] [Full Text] Wolf, M. T.F., Lee, J., Panther, F., Otto, E. A., Guan, K.-L., Hildebrandt, F. (2005). Expression and Phenotype Analysis of the Nephrocystin-1 and Nephrocystin-4 Homologs in Caenorhabditis elegans. J Am Soc Nephrol [Abstract] [Full Text] Nishimura, D. Y., Fath, M., Mullins, R. F., Searby, C., Andrews, M., Davis, R., Andorf, J. L., Mykytyn, K., Swiderski, R. E., Yang, B., Carmi, R., Stone, E. M., Sheffield, V. C. (2004). Bbs2-null mice have neurosensory deficits, a defect in social dominance, and retinopathy associated with mislocalization of rhodopsin.
Laurence-Moon-Bardet-Biedl Syndrome - Healthfinder® The information on this page is provided for medical and healthcare professionalsinvolved in the care of LMBBS patients and also for parents or relatives http://mentalhealth.about.com/library/h/docs/bld04497.htm
Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a14' About Mental Health Resources Mental Health Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Mental Health Resources newsletter! The information on this page is provided for medical and health-care professionals involved in the care of LMBBS patients and also for parents or relatives wishing to know more about the syndrome and the implications for those affected. Keywords: Consumer Resources Genetics Laurence-Moon-Biedl Syndrome Patient Education
ScienceDaily Browse Topics Health/Conditions_and_Diseases National Library of Medicine A summary of bardet-biedl syndrome and a list of Readers Digest Health - bardet-biedl syndrome General information and http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Neurologica
