The Journal Of Urology - UserLogin Hypercalciuria and Nephrocalcinosis in the oculocerebrorenal syndrome We treated 5 boys with the oculocerebrorenal syndrome and elevated urinary http://www.jurology.com/pt/re/juro/fulltext.00005392-199504000-00062.htm
Extractions: Purpose: To further describe the glaucoma with the oculocerebrorenal syndrome of Lowe (OCRL) including the responsible filtration angle abnormalities and response to treatment. Methods: The scientific literature regarding the glaucoma associated with OCRL from 1952, when the first report of the syndrome appeared, to the present was reviewed. The medical records of 7 patients with OCRL were studied. The occurrence of glaucoma, corneal changes secondary to glaucoma, gonioscopic abnormalities, iris features, and response to glaucoma surgery were recorded. Conclusion: A primary X-linked infantile glaucoma is a defining and frequent component of OCRL and is secondary to expression of a primary filtration angle anomaly. Goniotomy was unsuccessful in all (8) operated eyes. The adverse effects of cataract surgery on the filtration angle structures may influence the results of goniotomy surgery by superimposing a secondary aphakic glaucoma component that may explain the need for alternative glaucoma surgery.
Journal Of Glaucoma - UserLogin The oculocerebrorenal syndrome of Lowe (OCRL) is a rare Xlinked recessive oculocerebrorenal syndrome of Lowe is caused by a mutation of the OCRL-1 gene http://www.glaucomajournal.com/pt/re/jglaucoma/fulltext.00061198-200506000-00002
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 Entered in Swiss-Prot in Release 26, July 1993 Sequence was last modified in Release 48, September 2005 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name Inositol polyphosphate 5-phosphatase OCRL-1 Synonyms EC
SSBP - Society For The Study Of Behavioural Phenotypes Alternative names oculocerebrorenal syndrome of Lowe, Nussbaum, RL and Suchy,SF The oculocerebrorenal syndrome of Lowe (Lowe Syndrome) In The http://www.ssbp.co.uk/files/syndromes/lowes.htm
Extractions: LOWE SYNDROME Alternative names : Oculocerebrorenal Syndrome of Lowe, Oculo-cerebro-renal Syndrome. First Description : In 1952, Lowe et al described three patients with abnormal renal function, bone disease, mental retardation and congenital glaucoma. They suggested that these patients may have been suffering from a previously unreported syndrome which arose from an inborn error in metabolism. Later studies confirmed the existence of an X linked disorder (Lowe Syndrome) which caused major abnormalities in the eyes, nervous system and kidneys. Incidence / Prevalence : Prevalence is estimated at only a few cases per 100,000 males. Genetic Aspects: Physical phenotype Cognitive aspects : A diagnosis of Lowe Syndrome is compatible with normal intelligence and approximately 10% of patients have intelligence within the normal range (Nussbaum and Suchy, 2001). However intellectual impairment is a common feature with median IQ in the moderately impaired range. Estimates of intelligence may be depressed due to the employment of tests which are not suited to individuals with visual impairment. Behavioural aspects: Behaviour disturbances can be the most problematic aspect of Lowe Syndrome for parents and carers. Maladaptive behaviours are seen in over 80% of cases and include self injurious behaviour, aggression and episodic outbursts (also called Lowe tantrum) (Kenworthy et al., 1993) . These outbursts along with negativism, stubbornness and stereotypies were found to be characteristic of Lowe Syndrome when age, gender, visual impairment and cognitive functioning were controlled for (Kenworthy and Charnas, 1995).
MeSH-D Terms Associated To MeSH-C Term Oculocerebrorenal Syndrome MeSHD terms associated to MeSH-C term oculocerebrorenal syndrome, G2D Home of the association of the corresponding term to oculocerebrorenal syndrome. http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Oculocerebrorenal_Syndrome:unknown
Lowe Syndrome Lowe Syndrome, also known as oculo cerebro - renal syndrome, is a rare inheritedmetabolic oculocerebrorenal syndrome; Renal-Oculocerebrodystrophy http://my.webmd.com/hw/health_guide_atoz/nord109.asp
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.
Lowe Syndrome Lowe Syndrome, also known as oculocerebro-renal syndrome, is a rare inheritedmetabolic disease oculocerebrorenal syndrome; Renal-Oculocerebrodystrophy http://www.bchealthguide.org/kbase/nord/nord109.htm
Extractions: It is possible that the main title of the report Lowe 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. 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. March of Dimes Birth Defects Foundation
Brusa-Torricelli Syndrome (www.whonamedit.com) Aniridianephroblastoma syndrome, oculocerebrorenal syndrome. Associated persons P.Brusa Robert W. Miller C. Torricelli Max Wilms http://www.whonamedit.com/synd.cfm/2404.html
Extractions: This survey of medical eponyms and the persons behind them is meant as a general interest site only. No information found here must under any circumstances be used for medical purposes, diagnostically, therapeutically or otherwise. If you, or anybody close to you, is affected, or believe to be affected, by any condition mentioned here: see a doctor. A congenital syndrome in which aniridia (congenital absence of the iris) and nephroblastoma (Wilms' tumour) is associated with mental retardation, craniofacial defects (microcephaly), growth retardation and skeletal anomalies, deformed pinna, genitourinary anomalies, hamartomas, and umbilical and inguinal hernias. Other frequent features include cataract and glycoma, hypospadias, hemihypertrophy, and horseshoe kidney. The syndrome affects both sexes but is more frequent in males. Since the early 1980s this disorder has commonly been referred to as WAGR syndrome.
*300535 OCRL1 GENE; OCRL1 .0003 LOWE oculocerebrorenal syndrome OCRL, ARG577GLN. In a patient with asevere phenotype of Lowe syndrome (309000), Kawano et al. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:300535] -e
Lowe Syndrome Information Diseases Database aka/or oculocerebrorenal syndrome aka/or LoweBickel syndrome. may cause orfeature + (Follow link for list.) belong(s) to the category of + (Follow link http://www.diseasesdatabase.com/ddb29146.htm
List Of Diseases Starting With O: Information From Answers.com Oculocerebral syndrome with hypopigmentation; Oculocerebrocutaneous syndrome;oculocerebrorenal syndrome; Oculocutaneous albinism immunodeficiency http://www.answers.com/topic/list-of-diseases-starting-with-o
Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with O Wikipedia List of diseases starting with O A list of diseases in the English wikipedia. A B C D ... N O P Q R S ... Z Ocula Oculo Oculoa-Oculog 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
List Of Diseases Starting With L: Information From Answers.com Low birth weight dwarfism dysgammaglobulinemia; Lowe Kohn Cohen syndrome;Lowe oculocerebrorenal syndrome; Lowe syndrome; Lower limb anomaly ureteral http://www.answers.com/topic/list-of-diseases-starting-with-l
Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with L Wikipedia List of diseases starting with L A list of diseases in the English wikipedia. A B C D ... K L M N O P ... Z 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
Hyponatremia Management Nephrology Tubule Fanconi Syndrome. Wilson Disease (Autosomal recessive);Cytochrome C Oxidase deficiency; oculocerebrorenal syndrome of Lowe http://www.fpnotebook.com/REN131.htm
Extractions: Home About Links Index ... Editor's Choice document.write(code); Advertisement Nephrology Sodium Assorted Pages Hypernatremia Hypervolemic Hypernatremia Hypovolemic Hypernatremia Isovolemic Hypernatremia ... Cerebral Demyelination Syndrome Hyponatremia Management Book Home Page Cardiovascular Medicine Dentistry Dermatology Emergency Medicine Endocrinology Gastroenterology Geriatric Medicine Gynecology Hematology and Oncology HIV Infectious Disease Jokes Laboratory Neonatology Nephrology Neurology Obstetrics Ophthalmology Orthopedics Otolaryngology Pediatrics Pharmacology Practice Management Prevention Psychiatry Pulmonology Radiology Rheumatology Sports Medicine Surgery Urology Chapter Nephrology Index Acid and Base Disorders Calcium Chloride Cardiovascular Medicine Dermatology Edema Endocrinology Examination Failure Glomerulus Laboratory General Pulmonology Magnesium Neurology Pharmacology Phosphorus Potassium Prevention Radiology Sodium Surgery Tubule Page Sodium Index High High Hypervolemic High Hypovolemic High Isovolemic Low Low Hyperosmolar Low Normoosmolar Low Hypoosmolar Approach Low Hypoosmolar Hypervolemic Low Hypoosmolar Hypovolemic Low Hypoosmolar Isovolemic Low Hypoosmolar Isovolemic SIADH Low Management See Specific Hyponatremia Management Protocols Hyperosmolar Hyponatremia Serum Osms Hypoosmolar Hyponatremia Serum Osms ... Serum Osms Chronic Hyponatremia Avoid too rapid correction of Serum Sodium Risk of Central Pontine Myelinolysis Treat Hyponatremia based on Serum Osmolality (above) Do not use greater than normal saline (0.9%)
Delayed Development NiemannPick Disease (Classic Infantile and Juvenile); Noonan Syndrone;oculocerebrorenal syndrome (Lowe Syndrome); Oral-Facial Digital Syndrome http://www.rogerknapp.com/medical/eci.htm
Extractions: Delayed Development Evaluating children for proper development is sometimes difficult since there is such a wide variety in the rate of different children. Check with your doctor or compare your child with others of the same age. If you have concerns then you should call this Early Childhood Intervention (ECI) line and have your child evaluated. It can't hurt. Satisfy yourself that your child is in the normal range. ECI is paid by the government and can give your child therapy if they are behind the normal range of development or have disabilities. They serve up to age three. ECI services for children: ECI services for families: education and counseling.
Extractions: H. sapiens PID:g3171882 100 % / 820 aa M. musculus PID:g2766529 - inositol polyphosphate 5-phosphatase II 49 % / 725 aa R. norvegicus PID:g2708493 - synaptojanin II 37 % / 353 aa D. melanogaster PID:g2749755 - /prediction=(method: 34 % / 674 aa C. elegans PID:g3874363 - Similarirty to Human 75 KD inositol-1,4, 5-triphosphate 5-phosphatase 32 % / 626 aa S. cerevisiae PID:e239927 - ORF YNL106c 36 % / 321 aa Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs Homo sapiens DNA sequence from PAC 454M7 on chromosome Xq25-26.3. Contains the OCRL1 gene for Lowe Oculocerebrorenal Syndrome protein OCRL-1. Contains ESTs, STSs and GSSs
