Laurence-Moon-Bardet-Biedl Syndrome Network Home Page The purpose of this page is to raise public awareness of the LaurenceMoonbardet-biedl syndrome. It will also serve as a place for parents of LMBBS http://mlmorris.com/lmbbs/
Extractions: Sabrina Parker Introduction Laurence-Moon-Bardet-Biedl syndrome (LMBBS) is an autosomal recessive genetic disorder characterized by obesity, retinal degeneration, extra digits on the hands and feet, and intellectual impairment. In an autosomal recessive disorder, both parents must be carriers of the defective gene and both must pass on the defect to the child in order for the child to be affected. If both parents carry the defective gene responsible for causing LMBBS, they have a 1 in 4 chance of having a child with the syndrome. In 1993, the gene responsible for LMBBS was located on chromosome 16q21 (type 2). Shortly thereafter, another gene on chromosome 11q13 (type 1) was identified. Since then, two others were found on chromosomes 3p12 (type 3) and 15q22 (type 4). The most common form of LMBBS is type 1 and the most rare form is type 3. It is expected, however, that another gene that causes the syndrome also exists because there are identified cases that have none of these four defects. The occurrence rate varies in different parts of the world. In regions such as Kuwait, the occurrence is 1 in 13,500 due to a high frequency of inter-family marriages. British studies, on the other hand, show the prevalence to be 1 in 160,000. While this syndrome is considered rare, it is suspected that there is a major problem with under-diagnosis. Features and Characteristics Following is a list of characteristics that have been seen in children with LMBBS. Not all children will exhibit all of these features:
Mendelian: Bardet-Biedl Syndrome 2 Triallelic inheritance in bardetbiedl syndrome, a Mendelian recessive disorder Linkage mapping in 29 bardet-biedl syndrome families confirms loci in http://obesitygene.pbrc.edu/cgi-bin/ace/tree/ogm2k?name=Bardet-Biedl Syndrome 2&
Mendelian: Bardet-Biedl Syndrome 3 Canadian bardetbiedl syndrome family reduces the critical region of BBS3 (3p) and Identification of a bardet-biedl syndrome locus on chromosome 3 and http://obesitygene.pbrc.edu/cgi-bin/ace/tree/ogm2k?name=Bardet-Biedl Syndrome 3&
Extractions: Bardet-Biedl Syndrome Definition: 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)
HONselect - Bardet-Biedl Syndrome Translate this page Laurence Moon Bardet Biedl Syndrome - Syndrome, Bardet-Biedl Français,Syndrome de Bardet-Biedl, - Syndrome de Laurence Moon Bardet Biedl http://www.hon.ch/HONselect/RareDiseases/C10.228.140.617.200.html
Genome Research Sheds Light On Bardet-Biedl Syndrome ? By comparing the genomes of an alga, a weed and humans, a team of researchershas identified a new gene behind bardetbiedl syndrome (BBS), http://www.news-medical.net/?id=1765
Bardet-Biedl Syndrome Impairs Sense Of Smell In 2003, researchers in an international team discovered that proteins involvedin the complex disorder known as bardetbiedl syndrome were found in and http://rarediseases.about.com/b/a/117863.htm
Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases 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 Rare / Orphan Diseases newsletter! In 2003, researchers in an international team discovered that proteins involved in the complex disorder known as Bardet-Biedl syndrome were found in and near cilia. The nose and olfactory system have many cilia, so recently the researchers decided to look at the ability of individuals with Bardet-Biedl to detect odors. When administered a simple, standard smell test, 40% of individuals with the syndrome couldn't smell anything, and another 10% had a diminished sense of smell. The research was published in the August 22, 2004, edition of Nature Genetics Email to a Friend Display Latest Headlines Read Archives powered by Movable Type Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55')
Bardet-Biedl Syndrome / McKusick-Kaufman Syndrome - HUM-MOLGEN We are interested in locating families with either bardetbiedl syndrome or Our daughter is 10 years old and has bardet-biedl syndrome. and current http://hum-molgen.org/bb/Forum2/HTML/000048.html
Extractions: Member posted 01-25-2004 06:46 PM Our daughter is 10 years old and has bardet-biedl syndrome. and current information that you may offer us would be greatly welcomed. I have been reading bout this syndrome, I am at a lost in all of this. We live in an area where it seems the the only thing the doctors seem to only know about the syndrome is what we tell them or what they look up.It is very furstrating at times because it's like they think we don't know what we are talking about or if what we say she has in totally wrong. until we show them her medicial records. With her being at this age now where there are more questions asked by her. And the possiblity of health changes we are looking to new help and support.
Extractions: Identification of genes responsible for Bardet-Biedl syndrome Bardet-Biedl syndrome is a recessive heterogeneous disorder primarily characterized by obesity, retinal dystrophy, polydactyly, hypogenitalism and developmental delay. The relative clinical homogeneity of the disorder led to an initial expectation of genetic homogeneity. However, since the mapping of the first BBS locus in 1994 ( ), five more loci have been reported in the human genome with evidence for at least one additional locus. The recessive nature of the disorder, the typically small size of pedigrees, the genetic heterogeneity and the inability to clinically distinguish between BBS patients that map to different loci have substantially hindered efforts to positionally clone BBS genes. In this proposal, we aim to use a combination of classical positional cloning tools and functional studies to elucidate the underlying molecular mechanism of the disease. We will continue to collect pedigrees and perform genetic studies to reduce the and critical intervals through the identification of historical recombinants. As we have complete physical maps across both regions, as well as substantial genomic sequence information, we will apply computational prediction programs and experimental methods to identify and characterize novel candidate genes. These will then be sequenced in BBS patients to identify mutations. A different but complimentary approach will rely on functional methods to identify genes involved with the BBS phenotype. We recently reported the identification of the first BBS gene
Bardet-Biedl Syndrome Information bardetbiedl syndrome (BBS; OMIM 209900) is a genetically heterogeneous autosomalrecessive disorder with features of obesity, mild to moderate mental http://www.medicine.uiowa.edu/path_handbook/Appendix/Outreach/bbs_testing.html
Extractions: Background and Methodology: Bardet-Biedl syndrome (BBS; OMIM 209900) is a genetically heterogeneous autosomal recessive disorder with features of obesity, mild to moderate mental retardation, pigmentary retinopathy, polydactyly, renal malformations, and hypogonadism. Vision loss can begin in childhood and by age 20 greater than 70% of patients are blind. carverlab@molpc.ophth.uiowa.edu or (319)335-8270. Research Protocol: Research testing is available to patients who are found to have a normal M390R test result. This research test is a sequence based protocol covering all regions known to harbor variations in the known BBS genes. Patient specimens may also be used to identify new BBS genes. These studies are conducted in the laboratories of Val Sheffield, MD, PhD, and Ed Stone, MD, PhD, at The University of Iowa.
Bardet-Biedl Syndrome, Type 1 (M390R Mutation) bardetbiedl syndrome, Type 1 (M390R Mutation), Order Code BBS. MolecularPathology/Diagnostics. 6004 BT GH, 384-9568. Order Form http://www.medicine.uiowa.edu/Path_Handbook/handbook/test2122.html
Extractions: Bardet-Biedl Syndrome, Type 1 (M390R Mutation) Order Code: BBS Molecular Pathology/Diagnostics 6004 BT GH Order Form: A-1a Molecular Pathology/Diagnostics Specimen Whole Blood Collection Medium: Lavender top tube (EDTA) Minimum: Adults - 3 mL whole blood in lavender top tube (EDTA) Children - 2 mL whole blood in lavender top tube (EDTA) Testing on smaller volumes than those requested will be attempted. However, in some cases, small blood volumes may compromise the ability to perform testing. Testing requires a dedicated collection tube. Delivery Instructions: Room temperature up to 24 hours. Refrigerate overnight, weekends and holidays. Testing Schedule: Weekly Analytic Time: 14 days Reference Range: Normal Comments: This test will detect the common M390R mutation by direct DNA analysis. DNA is extracted from the patient's blood and amplified using polymerase chain reaction (PCR) with primers specific for either the normal or abnormal allele. An internal amplfication control is used to ensure proper function of the test. CPT codes used; 83890, 83901(x2), 83894, 83912 Methodology: Polymerase Chain Reaction: Amplification Refractory Mutation System (ARMS) CPT Code: See comments Alphabetic main page Updated: 07/18/2005 Note : The information contained in this handbook is for use by personnel of University of Iowa Health Care. No other use is implied or intended.
Extractions: This Article Full Text Full Text (PDF) Alert me when this article is cited ... Citation Map Services Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles Search for citing articles in: Kirk Mykytyn Robert F. Mullins Michael Andrews Annie P. Chiang Ruth E. Swiderski Baoli Yang Terry Braun Thomas Casavant Edwin M. Stone and Val C. Sheffield Department of Pharmacology and Division of Human Genetics, Ohio State University, Columbus, OH 43210; and Department of Pediatrics, Division of Medical Genetics, Departments of Opthalmology, Computer and Electrical Engineering, and Obstetrics and Gynecology, and Howard Hughes Medical Institute, University of Iowa, Iowa City, IA 52242 Edited by Jeremy Nathans, Johns Hopkins University School of Medicine, Baltimore, MD, and approved April 22, 2004 (received for review April 2, 2004)
Bardet Biedl Syndrome bardetbiedl syndrome is a group of rare disorders inherited as autosomal recessivegenetic traits. Major features of these disorders may include mental http://www.bchealthguide.org/kbase/nord/nord988.htm
Extractions: It is possible that the main title of the report Bardet Biedl Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Bardet-Biedl Syndrome is a group of rare disorders inherited as autosomal recessive genetic traits. Major features of these disorders may include mental retardation, obesity, delayed sexual development or underdeveloped reproductive organs, progressive pigmentary degeneration of the retinas of the eyes, kidney abnormalities in structure or function, and/or abnormal or extra fingers and/or toes. Confusion exists in the medical literature regarding the difference between Bardet-Biedl Syndrome and Laurence-Moon Syndrome. National Association for Visually Handicapped
Bardet-Biedl Syndrome - Wikipedia, The Free Encyclopedia The bardetbiedl syndrome is aa syndrome characterized mainly by obesity, bardet-biedl syndrome 1 (BBS1) has no linkage to chromosome 16; Bardet-Biedl http://en.wikipedia.org/wiki/Bardet-Biedl_syndrome
Extractions: Over US$240,000 has been donated since the drive began on 19 August. Thank you for your generosity! Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet redirect here. See below for an explanation. The Bardet-Biedl syndrome is a a syndrome characterized mainly by obesity , pigmentary retinopathy polydactyly mental retardation hypogonadism , and renal failure in fatal cases. The syndrome is named after Georges Bardet and Arthur Biedl Two forms have been identified: Laurence-Moon-Biedl syndrome and Laurence-Moon-Biedl-Bardet syndrome are no longer considered as valid terms in that patients of Laurence and Moon had paraplegia but no polydactyly and obesity which are the key elements of the Bardet-Biedl the syndrome. Laurence-Moon syndrome is a separate entity. edit Eyes: Pigmentary retinopathy.
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 number Entered in Swiss-Prot in Release 43, March 2004 Sequence was last modified in Release 43, March 2004 Annotations were last modified in Release 47, May 2005 Name and origin of the protein Protein name Bardet-Biedl syndrome 1 protein Synonym BBS2-like protein 2 Gene name Name: Synonyms: From Homo sapiens (Human) TaxID Taxonomy ... References
