References For Fanconi Renotubular Syndrome With The MeSH Term References for Fanconi renotubular syndrome with the MeSH term oculocerebrorenal syndrome, G2D Home. PMID and date. Follow the link http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Oculocerebrorenal_Sy
Extractions: Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.
Index Oculocerebral Syndrome with Hypopigmentation Oculocerebrocutaneous Syndrome Oculocerebrorenal Dystrophy oculocerebrorenal syndrome Oculocraniosomatic Syndrome http://my.webmd.com/hw/index/index-topics-O.asp
Connexion Carrier assessment in families with lowe oculocerebrorenal syndrome novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular http://www.dsi.univ-paris5.fr/genatlas/tbiblio.php?symbol=OCRL
Blackwell Synergy - Cookie Absent hair cysts. Also known as oculocerebrorenal syndrome, it is an Xlinked recessive disorder localized to Xq24-26.1. The phenotypic http://www.blackwell-synergy.com/links/doi/10.1111/j.0736-8046.2004.21112.x/enha
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Blackwell Synergy - Cookie Absent oculocerebrorenal syndrome of Lowe (OCRL) is a rare, multisystem disorder characterized by congenital cataracts, mental retardation, hypotonia and renal http://www.blackwell-synergy.com/links/doi/10.1046/j.1442-200X.2003.01697.x/full
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Extractions: Ahmet AYDIN, Asým CENANÝ Background.- The Lowe syndrome or oculocerebrorenal syndrome is a rare X linked recessive hereditary diseases which involves ocular defects, nervous system anomalies and renal dysfunction. The stubborness, temper tantrums and complex repetitive movements (stereotypy) are seen frequently in these patients. Whether these behavior patterns simply reflect the multiple disabilities found in some developmentally impaired irýdividuals with or without Lowe syndrome or is a specific genetically - determined behavioral phenotype of Lowe syndrome is unknown. Observation.- In this paper a 12-year old male patient with Lowe syndrome has been described with behavioral anomalies like stubborness, temper tantrums and stereotypic behaviours. Seven M, Suyugül Z, Yüksel A, Hacýhanefioðlu S, Aydýn A, Cenani A. The approachment to behavioral phenotype of a case with Lowe syndrome. Cerrahpaþa J Med Lowe sendromu (LS), diðer ismiyle okuloserebrorenal sendrom, konjenital katarakt, glokom, nistagmus gibi oküler defektlerin, hipotoni, mental retardasyon, arefleksi gibi sinir sistemi bozukluklarýnýn ve ilerleyici renal tübüler disfonksiyon, asidozis, hiperaminoasidüri gibi renal disfonksiyonlarýn görüldüðü, daha çok beyaz ve sarý ýrkta rastlanan X'e baðlý resesif bir hastalýktýr.
Seq1 AsHs878 MRNA1 Gnl UG Hs S417617 Human Fetal Brain seq1 AsHs878 mRNA1 gnl UG Hs S417617 Human fetal brain oculocerebrorenal syndrome (OCRL1) mRNA, complete cds /cds=(177,2882) /gb=U57627 /gi=1420919 /ug=Hs http://166.111.30.65/AsMamDB/Hs/Structure/AsHs878.element.html
Associazione Italiana Sindrome Di Lowe Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome novel mutations in the OCRL1 http://aislo.negrisud.it/referenze.html
Extractions: Peverall J, Edkins E, Goldblatt J, Murch A. Identification of a novel deletion of the entire OCRL1 gene detected by FISH analysis in a family with Lowe syndrome. Clin Genet. 2000 Dec;58(6):479-82. Gropman A, Levin S, Yao L, Lin T, Suchy S, Sabnis S, Hadley D, Nussbaum R. Unusual renal features of Lowe syndrome in a mildly affected boy. Am J Med Genet. 2000 Dec 18;95(5):461-6. Monnier N, Satre V, Lerouge E, Berthoin F, Lunardi J. OCRL1 mutation analysis in French Lowe syndrome patients: implications for molecular diagnosis strategy and genetic counseling. Hum Mutat. 2000;16(2):157-65. Roschinger W, Muntau AC, Rudolph G, Roscher AA, Kammerer S. Carrier assessment in families with lowe oculocerebrorenal syndrome: novel mutations in the OCRL1 gene and correlation of direct DNA diagnosis with ocular examination. Mol Genet Metab. 2000 Mar;69(3):213-22. Dressman MA, Olivos-Glander IM, Nussbaum RL, Suchy SF. Ocrl1, a PtdIns(4,5)P(2) 5-phosphatase, is localized to the trans-Golgi network of fibroblasts and epithelial cells. J Histochem Cytochem. 2000 Feb;48(2):179-90. Harrison M, Odell EW, Sheehy EC. Dental findings in Lowe syndrome. Pediatr Dent. 1999 Nov-Dec;21(7):425-8. Review.
Rheumatology -- Hofbauer Et Al. 40 (1): 107 SIR, We describe the unusual diagnosis of Lowe s syndrome (oculocerebrorenal syndrome) in identical twins at age 46 yr, who were referred to our institution http://rheumatology.oupjournals.org/cgi/content/full/40/1/107
Extractions: Department of Surgery, Philipps University, Marburg, Germany S IR , We describe the unusual diagnosis of Lowe's syndrome (oculocerebrorenal syndrome) in identical twins at age 46 yr, who were referred to our institution for evaluation of hypercalcaemia and bone pain. Two 46-yr-old identical twin brothers presented with a 1-yr history of hypercalcaemia. Both had grown up in a foster care family and had required chronic haemodialysis for end-stage kidney disease of unknown aetiology for 9 and 10 yr, respectively.
Fanconi's Syndrome Oxidase deficiency; oculocerebrorenal syndrome of Lowe. Acquired form Multiple Myeloma; Nephrotic Syndrome; Chronic tubulointerstitial http://www.fpnotebook.com/REN129.htm
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Lowes Syndrom - Små Och Mindre Kända Handikappgrupper Litteratur. Chamas LR, Gahl WA. The oculocerebrorenal syndrome of Lowe. Charnas LR, Nussbaum R. The oculocerebrorenal syndrome of Lowe (Lowe Syndrome). http://www.sos.se/smkh/2000-29-123/2000-29-123.htm
Extractions: HTML-version 1.1 Socialstyrelsen Detta är ett utdrag ur Socialstyrelsens kunskapsdatabas om små och mindre kända handikappgrupper. Med små och mindre kända handikappgrupper avses ovanliga sjukdomar/skador som leder till omfattande funktionshinder och som finns hos högst 100 personer per miljon invånare. Syftet med databasen är att ge aktuell information om små och mindre kända handikappgrupper och om det stöd och den service som dessa grupper behöver. För ytterligare information om aktuell diagnos hänvisas till informationsmaterial, litteratur och databaser som anges under resp diagnos. Orsak till sjukdomen/skadan Symtom Epilepsin behandlas med anti-epileptisk medicin. Resurspersoner info@lowesyndrome.org
Extractions: hypotrichosis table Home Forums Privacy Advertising ... Home On this page... Introduction The tables below records disorders known to involve hypotrichosis. The first table lists disorders where hypotrichosis is a primary symptom. The second table lists disorders where hypotrichosis can be one of several symptoms. Typically the other symptoms are of greater concern and health or life threatening. Many of these conditions involving hypotrichosis as a secondary symptom are ectodermal dysplasias. The clinical distinction between alopecia and hypotrichosis is that alopecia involves hair growth that is later lost. Hypotrichosis is a lack of any hair growth. The distinction between alopecia and hypotrichosis is not clear cut for many disorders. Some dermatologists will disagree with my listing. You may find some disorders in both the alopecia and hypotrichosis listings. This is not necessarily a complete list of disorders involving hypotrichosis. Links to relevant web pages on the Online Mendelian Inheritance in Man (OMIM) web database are also given where possible.
Extractions: Lowe Syndrome, also known as oculo-cerebro-renal syndrome, is a rare inherited metabolic disease that affects males. This disorder is characterized by lack of muscle tone (hypotonia), multiple abnormalities of the eyes and bones, the presence at birth of clouding of the lenses of the eyes (cataracts), mental retardation, short stature, and kidney problems. Other findings may include protrusion of the eyeball from the eye socket (enophthalmos); failure to gain weight and grow at the expected rate; weak or absent deep tendon reflexes; and multiple kidney problems (e.g., renal tubular dysfunction, renal hyperaminoaciduria, etc.). Lowe Syndrome is inherited as an X-linked genetic trait and symptoms develop due to lack of the enzyme phosphatidylinositol 4,5-biphosphate 5 phosphatase.
Stoornissen Betreffende De Ogen Lowe oculocerebrorenal syndrome OMIM 309000 OMIM Clinical Synopsis; Neurofibromatosis type I OMIM 162200 OMIM Clinical Synopsis; http://www.homepages.hetnet.nl/~b1beukema/ziekogen.html
List Of Rare Diseases Starting With O hypopigmentation; Oculocerebrocutaneous syndrome; oculocerebrorenal syndrome; Oculocutaneous albinism immunodeficiency; Oculocutaneous http://www.fact-index.com/l/li/list_of_rare_diseases_starting_with_o.html
Extractions: Main Page See live article Alphabetical index This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... N O P Q R S ... Z O Doherty syndrome O Donnell Pappas syndrome Obesity Obesophobia Obsessive-compulsive disorder Obstructive asymmetric septal hypertrophy Occipital horn syndrome Occlusive Infantile ateriopathy Occult spinal dysraphism Occupational Asthma - Chemicals Occupational Asthma - Metals Occupational Asthma - Plants Occupational Asthma - Wood dust Occupational Asthma-Drugs OCD Ochoa syndrome Ochronosis, hereditary Ochronosis Ocular Albinism Ocular coloboma-imperforate anus Ocular convergence spasm Ocular Histoplasmosis Ocular melanoma Ocular motility disorders Ocular toxoplasmosis Oculo cerebral dysplasia Oculo cerebro acral syndrome Oculo cerebro osseous syndrome Oculo dento digital dysplasia Oculo digital syndrome Oculo facio cardio dental syndrome Oculo skeletal renal syndrome Oculo tricho anal syndrome Oculo tricho dysplasia Oculoauriculofrontonasal syndrome Oculoauriculovertebral dysplasia Oculocerebral hypopigmentation syndrome Cross type Oculocerebral hypopigmentation syndrome type Preus Oculocerebral syndrome with hypopigmentation Oculocerebrocutaneous syndrome Oculocerebrorenal syndrome Oculocutaneous albinism immunodeficiency Oculocutaneous albinism type 1 Oculocutaneous albinism type 2 Oculocutaneous albinism type 3 Oculocutaneous albinism, tyrosinase negative
List Of Rare Diseases Starting With L dysgammaglobulinemia; Lowe Kohn Cohen syndrome; Lowe oculocerebrorenal syndrome; Lowe syndrome; Lower limb anomaly ureteral obstruction; http://www.fact-index.com/l/li/list_of_rare_diseases_starting_with_l.html
Extractions: Main Page See live article Alphabetical index This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... K L M N O P ... Z Labrador lung Labyrinthitis syndrome Lachanophobia Lachiewicz Sibley syndrome Lacrimo-auriculo-dento-digital syndrome Lactate dehydrogenase deficiency type A Lactate dehydrogenase deficiency type B Lactate dehydrogenase deficiency type C Lactate dehydrogenase deficiency Lactic acidosis congenital infantile Ladda Zonana Ramer syndrome Lafora disease Lagophthalmia cleft lip palate Lambdoid synostosis familial Lambert syndrome Lambert-Eaton Myasthenic Syndrome (Lambert-Eaton paraneoplastic cerebellar degeneration) Lambert-Eaton syndrome Lamellar ichthyosis Lamellar recessive ichthyosis Landau-Kleffner syndrome Landouzy-Dejerine muscular dystrophy Landy Donnai syndrome Langdon Down Langer Nishino Yamaguchi syndrome Langer-Giedion syndrome Langerhans cell granulomatosis Langerhans cell histiocytosis Laparoschisis Laplane Fontaine Lagardere syndrome Large B cell diffuse lymphoma Laron-type dwarfism Larsen like osseous dysplasia dwarfism Larsen like syndrome lethal type Larsen syndrome craniosynostosis Larsen syndrome, dominant type
