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lowe's syndrome - rare inherited metabolic disease causing eye problems, mental retardation and rickets Definition for Lowe's Syndrome Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive disorder characterized by hydrophthalmia, cataracts, mental retardation, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets. some common symptoms blindness cataract delayed development vision problems some related diagnoses 1 - 7 of 29 diagnoses hyperparathyroidism hypocalcemia G6PD deficiency Alport's Syndrome Turner's Syndrome diabetes mellitus type 2 drugs and toxins   more do i have 'Lowe's Syndrome'? In addition the following diagnostic tests might be need to help verify the diagnosis: diagnostic test search results for 'lowe's syndrome' 1 - 5 of 28 diagnostic tests Molecular Genetic Studies Lowe's Syndrome and Molecular Genetic Studies 24 hour urine calcium the amount of calcium that is excreted from the body Lowe's Syndrome and 24 hour urine calcium Arterial Blood Gas Lowe's Syndrome and Arterial Blood Gas Complete metabolic panel Lowe's Syndrome and Complete metabolic panel Lactate dehydrogenase (LDH) Lowe's Syndrome and Lactate dehydrogenase (LDH) Liver Function Tests elevated liver enzymes Lowe's Syndrome and Liver Function Tests Serum Alkaline Phosphatase (ALP) Lowe's Syndrome and Serum Alkaline Phosphatase (ALP) Serum Creatine Kinase (CK) Lowe's Syndrome and Serum Creatine Kinase (CK) Serum Creatinine Lowe's Syndrome and Serum Creatinine Urinalysis Examination of urine to detect disease Lowe's Syndrome and Urinalysis X-rays Lowe's Syndrome and X-rays Brain MRI Lowe's Syndrome and Brain MRI Slit lamp examination Lowe's Syndrome and Slit lamp examination ultrasound eye Lowe's Syndrome and ultrasound eye urine L-carnitine Lowe's Syndrome and urine L-carnitine Chorionic Villus Sampling (CVS) Lowe's Syndrome and Chorionic Villus Sampling (CVS) serum enzyme phosphatidylinositol-4,5-bisphosphate phosphatase Lowe's Syndrome and serum enzyme phosphatidylinositol-4,5-bisphosphate phosphatase Amniocentesis Lowe's Syndrome and Amniocentesis Serum protein electrophoresis Lowe's Syndrome and Serum protein electrophoresis EEG - Electroencephalogram Lowe's Syndrome and EEG - Electroencephalogram PtdIns[4,5]P2 5 phosphatase in fibroblasts Lowe's Syndrome and PtdIns[4,5]P2 5 phosphatase in fibroblasts Comprehensive eye exam Lowe's Syndrome and Comprehensive eye exam Pulse oximetry Oximetry Lowe's Syndrome and Pulse oximetry Serum Prostatic acid phosphatase (PAP) Lowe's Syndrome and Serum Prostatic acid phosphatase (PAP) Urinary electrolytes Lowe's Syndrome and Urinary electrolytes cultured skin fibroblasts for biochemical study Lowe's Syndrome and cultured skin fibroblasts for biochemical study direct enzymatic assay in fibroblasts Lowe's Syndrome and direct enzymatic assay in fibroblasts serum electrolytes Lowe's Syndrome and serum electrolytes for more please login, login is free (click to login) therapeutic procedures for 'Lowe's Syndrome'? Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for Lowe's Syndrome: therapeutic procedure search results for 'lowe's syndrome' 1 - 5 of 8 therapeutic procedures rankings are computer generated. please consult your health care provider. drainage filtration device Lowe's Syndrome and drainage filtration device Trabeculectomy Lowe's Syndrome and Trabeculectomy goniotomy Lowe's Syndrome and goniotomy Lamellar keratectomy Lowe's Syndrome and Lamellar keratectomy Corneal grafting Lowe's Syndrome and Corneal grafting Corneal surgery Lowe's Syndrome and Corneal surgery Oxygen Lowe's Syndrome and Oxygen eye surgery Lowe's Syndrome and eye surgery for more please login, login is free (click to login) medications search results for 'lowe's syndrome' 1 - 3 of 3 medications rankings are computer generated. please consult your health care provider.   Vitamin D Lowe's Syndrome and Vitamin D   Phosphate supplementation Lowe's Syndrome and Phosphate supplementation   L-carnitine replacement Lowe's Syndrome and L-carnitine replacement web search results for lowe's syndrome Web (All)  |  Treatment  |  Drugs  |  Tests  |  Research  |  Diet Results 1 - 50 - Lowe's Syndrome Lenticular opacities in carriers of Lowe's syndrome. 1: Ophthalmology. 1986 Aug;93(8):1041-5. Lenticular opacities in carriers of Lowe's syndrome. ... obligate carriers of Lowe's syndrome from the same pedigree ... http://www.ncbi.nlm.nih.gov/pubmed/3763152   www.ncbi.nlm.nih.gov - summary Oculocerebrorenal syndrome - Wikipedia, the free encyclopedia Oculocerebrorenal syndrome (also called Lowe syndrome) is a X-linked recessive ... Lowe Syndrome Association Official Website. U.K. Lowe Syndrome Trust. v ? d ? e ... http://en.wikipedia.org/wiki/Oculocerebrorenal_syndrome   en.wikipedia.org - summary Lowe syndrome - Genetics Home Reference Many individuals with Lowe syndrome have delayed development, and intellectual ... Gene Review: Lowe Syndrome. MedlinePlus Encyclopedia: Congenital Cataract ... http://ghr.nlm.nih.gov/condition=lowesyndrome   ghr.nlm.nih.gov - summary Fanconi Syndrome: Renal Transport Abnormalities: Merck Manual Professional Introduction· Cystinuria·Fanconi Syndrome· Hartnup Disease· Hypophosphatemic Rickets ... galactosemia, glycogen storage disease, Lowe syndrome, and tyrosinemia. ... http://www.merck.com/mmpe/sec19/ch291/ch291c.html   www.merck.com - summary MedlinePlus Medical Encyclopedia: Congenital cataract Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://www.nlm.nih.gov/medlineplus/ency/article/001615.htm   www.nlm.nih.gov - summary Lowe syndrome - References - Genetics Home Reference The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous ... Lowe M. Structure and function of the Lowe syndrome protein OCRL1. Traffic. ... http://ghr.nlm.nih.gov/condition=lowesyndrome/show/References   ghr.nlm.nih.gov - summary Lowe Syndrome -- GeneReviews -- NCBI Bookshelf Lowe syndrome is inherited in an X-linked manner. ... Males with Lowe syndrome. ... The markers used for Lowe syndrome linkage are highly informative and tightly ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=lowe   www.ncbi.nlm.nih.gov - summary Congenital cataract Conradi syndrome. Down syndrome (trisomy 21) Ectodermal ... Hallerman-Streiff syndrome. Lowe syndrome. Marinesco-Sjogren syndrome. Pierre-Robin syndrome ... http://adam.about.com/encyclopedia/infectiousdiseases/Congen...   adam.about.com - summary Last 12 months - Genetics Home Reference Condition: Lowe syndrome. Condition: Milroy disease. Gene: ... Gene: OCRL: oculocerebrorenal syndrome of Lowe. Gene: TOR1A: torsin family 1, member A (torsin A) ... http://www.ghr.nlm.nih.gov/whatsnew/show/12months   www.ghr.nlm.nih.gov - summary Eye Diseases - Genetics Home Reference isolated Duane retraction syndrome. Leber hereditary optic neuropathy. Lenz microphthalmia syndrome. Lowe syndrome. Norrie disease. ocular albinism ... http://ghr.nlm.nih.gov/conditionGroup=eyediseases;jsessionid...   ghr.nlm.nih.gov - summary 309000 http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=309000   www.ncbi.nlm.nih.gov - summary Fanconi syndrome - Wikipedia, the free encyclopedia ... metabolism), Lowe Syndrome, Tyrosinemia (Type I), galactosemia, glycogen storage ... Acquired fanconi syndrome with osteomalacia secondary to monoclonal ... http://en.wikipedia.org/wiki/Fanconi_syndrome   en.wikipedia.org - summary Fanconi Syndrome: Renal Transport Abnormalities: Merck Manual Professional Hereditary Fanconi syndrome usually accompanies another genetic disorder, ... galactosemia, glycogen storage disease, Lowe syndrome, and tyrosinemia. ... http://www.merck.com/mmpe/print/sec19/ch291/ch291c.html   www.merck.com - summary Encyclopedia L-Lz on Yahoo! Health Health encyclopedia of diseases and conditions covering symptoms, definitions, alternative names, causes, incidence, ... Lowe Syndrome. Lq-Lz. Lumbar Puncture ... http://health.yahoo.com/ency/l/   health.yahoo.com - summary FANCONI SYNDROME - RENAL - Pedbase.org Fanconi syndrome is considered to represent the uniform response ... Lowe Syndrome. Tyrosinemia I. Wilson Disease. 2. Acquired Diseases. 1. Proteinuric States ... http://www.pedbase.org/f/fanconi-syndrome-renal   www.pedbase.org - summary OCRL - oculocerebrorenal syndrome of Lowe - Genetics Home Reference The official name of this gene is "oculocerebrorenal syndrome of Lowe. ... Lowe syndrome - caused by mutations in the OCRL gene ... http://ghr.nlm.nih.gov/gene=ocrl   ghr.nlm.nih.gov - summary Renal manifestations of Dent disease and Lowe syndrome. All seven boys with a clinical diagnosis of Lowe syndrome had a mutation in OCRL1. Patients with Lowe syndrome showed more frequent hypophosphatemia/rickets and ... http://www.ncbi.nlm.nih.gov/pubmed/18038239   www.ncbi.nlm.nih.gov - summary MedlinePlus: Eye Diseases Holmes-Adie Syndrome(National Institute of Neurological Disorders and Stroke) - Short Summary ... Genetics Home Reference: Lowe syndrome(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/eyediseases.html   www.nlm.nih.gov - summary PMID 3953680 ... de novo X/autosome translocation in a girl with manifestations of Lowe syndrome. ... 47 The Oculo-cerebro-renal syndrome of Lowe is an X-linked recessive disorder ... http://www.ncbi.nlm.nih.gov/pubmed/3953680   www.ncbi.nlm.nih.gov - summary Renal Tubular Acidosis (RTA): Tubular and Cystic Kidney Disorders ... Introduction· Bartter Syndrome· Cystinuria· Fanconi Syndrome· Hartnup Disease ... or oculocerebrorenal syndrome (Lowe syndrome); may also be caused by heavy metal ... http://www.merck.com/mmhe/sec11/ch146/ch146b.html?qt=acidosis&alt=sh   www.merck.com - summary Eyes and vision - Genetics Home Reference Lowe syndrome. lymphedema-distichiasis syndrome ... Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome ... http://ghr.nlm.nih.gov/conditionCategory=eyesandvision   ghr.nlm.nih.gov - summary MedlinePlus: Kidney Diseases Genetics Home Reference: Lowe syndrome(National Library of Medicine) ... Childhood Nephrotic Syndrome(National Institute of Diabetes and Digestive and Kidney ... http://www.nlm.nih.gov/medlineplus/kidneydiseasesgeneral.html   www.nlm.nih.gov - summary Renal Glucosuria: Abnormal Renal Transport Syndromes: Merck Manual ... ... occur with various systemic disorders, including Fanconi syndrome, cystinosis, ... disease, hereditary tyrosinemia, and oculocerebrorenal syndrome (Lowe syndrome) ... http://www.merck.com/mmpe/print/sec17/ch237/ch237e.html   www.merck.com - summary Kidneys and urinary system - Genetics Home Reference Lowe syndrome. MAA see Lenz microphthalmia syndrome ... Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome ... http://ghr.nlm.nih.gov/conditionCategory=kidneysandurinarysystem   ghr.nlm.nih.gov - summary Oculocerebrorenal syndrome of Lowe (OCRL) Human protein-coding gene OCRL. Represented by 283 ESTs from 140 cDNA ... Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Hs&CID=126357   www.ncbi.nlm.nih.gov - summary OCRL - References - Genetics Home Reference The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous ... M. Lowe syndrome protein OCRL1 interacts with clathrin and regulates protein ... http://ghr.nlm.nih.gov/gene=ocrl/show/References   ghr.nlm.nih.gov - summary Oculocerebrorenal syndrome of Lowe (Ocrl) Mouse protein-coding gene Ocrl. Represented by 222 ESTs from ... Mus musculus oculocerebrorenal syndrome of Lowe, mRNA (cDNA clone IMAGE:5367818), partial cds ... http://www.ncbi.nlm.nih.gov/UniGene/clust.cgi?ORG=Mm&CID=210343   www.ncbi.nlm.nih.gov - summary Renal Glucosuria: Abnormal Renal Transport Syndromes: Merck Manual ... Introduction· Bartter Syndrome· Liddle Syndrome· Nephrogenic Diabetes Insipidus ... disease, hereditary tyrosinemia, and oculocerebrorenal syndrome (Lowe syndrome) ... http://www.merck.com/mmpe/sec17/ch237/ch237e.html   www.merck.com - summary MedlinePlus: Neurologic Diseases Complex Regional Pain Syndrome. Degenerative Nerve Diseases. Epilepsy. Meningitis ... Genetics Home Reference: Lowe syndrome(National Library of Medicine) ... http://www.nlm.nih.gov/medlineplus/neurologicdiseases.html   www.nlm.nih.gov - summary PROTEINURIA - Pedbase.org Lowe Syndrome. Medullary Cystic Kidney. Proximal RTA. Wilson Disease. 2. Non-Hereditary ... all forms of Nephrotic Syndrome except that caused by steroid ... http://www.pedbase.org/p/proteinuria   www.pedbase.org - summary Orphanet: Lowe syndrome The portal for rare diseases ... Lowe syndrome. Orpha number. ORPHA534. Prevalence of rare diseases. 1-9 / 1 000 ... syndrome. Lowe oculocerebrorenal syndrome ... http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=534   www.orpha.net - summary Kidney Diseases - Genetics Home Reference Lowe syndrome. nail-patella syndrome. polycystic kidney disease. primary hyperoxaluria. renal coloboma syndrome. Townes-Brocks Syndrome ... http://ghr.nlm.nih.gov/medlineplusTopic=kidneydiseases   ghr.nlm.nih.gov - summary History of Genitourinary Disease -- Clinical Methods -- NCBI Bookshelf ... syndrome (hereditary ... occurs with Fanconi's syndrome; growth retardation, rickets ... Lowe's syndrome. CRF = chronic renal failure; RTA = renal ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=cm&partid...   www.ncbi.nlm.nih.gov - summary Metabolic Disorders - Genetics Home Reference Bloom syndrome. carbamoyl phosphate ... Chanarin-Dorfman syndrome. cholesteryl ester storage disease ... Lowe syndrome. Lynch syndrome. lysinuric ... http://ghr.nlm.nih.gov/medlineplusTopic=metabolicdisorders   ghr.nlm.nih.gov - summary OCRL mutation analysis in Italian patients with Lowe syndrome. ... May;23(5):524-5. OCRL mutation analysis in Italian patients with Lowe syndrome. ... The oculocerebrorenal syndrome of Lowe (OCRL, also called OCRL1) is a rare ... http://www.ncbi.nlm.nih.gov/pubmed/15108291   www.ncbi.nlm.nih.gov - summary Renal Tubular Acidosis (RTA): Abnormal Renal Transport Syndromes: Merck ... This syndrome may occur as part of a generalized dysfunction of proximal tubules ... Wilson's disease, oculocerebrorenal syndrome [Lowe syndrome], cystinosis) ... http://www.merck.com/mmpe/sec17/ch237/ch237f.html   www.merck.com - summary National Library of Medicine: LS Lowe syndrome, the synonyms, a summary and list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome401.html   www.nlm.nih.gov - summary X chromosome - Conditions related to genes on the X chromosome ... Coffin-Lowry syndrome. color vision deficiency ... Kallmann syndrome. L1 syndrome. Lenz microphthalmia syndrome. Lesch-Nyhan syndrome. Lowe syndrome ... http://ghr.nlm.nih.gov/chromosome=X/show/Conditions   ghr.nlm.nih.gov - summary Brain Diseases - Genetics Home Reference GLUT1 deficiency syndrome. glycine encephalopathy. GM2 ... Lesch-Nyhan syndrome. Lowe syndrome. maple syrup urine disease. Marinesco-Sjögren syndrome ... http://ghr.nlm.nih.gov/conditionGroup=braindiseases   ghr.nlm.nih.gov - summary NIOSH Publication : A Guide to Selecting Non-Powered Hand Tools: 2004 ... ... risk of injury, such as carpal tunnel syndrome, tendonitis, or muscle strain. *Dababneh A, Lowe B, Krieg E, Kong Y, and Waters T, A Checklist for the Ergonomic ... http://www.cdc.gov/niosh/docs/2004-164/default.html   www.cdc.gov - summary WebMD Health A-Z - Find reliable health and medical information on ... Find a comprehensive index of trusted health and medical information. It is your ultimate guide to reliable health ... Lowe Syndrome. Lowe-Bickel Syndrome ... http://www.webmd.com/a-to-z-guides/health-topics/lk-lo.htm   www.webmd.com - summary -- GeneReviews -- NCBI Bookshelf Alagille Syndrome Nancy B Spinner, Ian D Krantz, and Binita M Kamath Initial ... Lowe Syndrome Oculocerebrorenal Syndrome, Oculocerebrorenal Syndrome of Lowe ... http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene   www.ncbi.nlm.nih.gov - summary Marinesco-Sjogren syndrome - Wikipedia, the free encyclopedia ... glycoprotein syndromes, Lowe syndrome, and mitochondrial ... disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 ... Syndrome Support ... http://en.wikipedia.org/wiki/Marinesco-Sjogren_syndrome   en.wikipedia.org - summary Pedbase.org - The Pediatric Database Neonatal Seizure, Noonan Syndrome, Otitis Media, Osteosarcoma, Night Terror. N-O. N ... UTI, Wilm's Tumor, XXX Syndrome, VSD, Urticaria. U-V-W-X-Y-Z. U. V. W ... http://www.pedbase.org/   www.pedbase.org - summary Genetic Brain Disorders - Genetics Home Reference GLUT1 deficiency syndrome. glutaric acidemia type I. glycine encephalopathy ... Lesch-Nyhan syndrome. Lowe syndrome. maple syrup urine disease. Menkes syndrome ... http://ghr.nlm.nih.gov/conditionGroup=geneticbraindisorders   ghr.nlm.nih.gov - summary Mental Retardation (MR): Learning and Developmental Disorders: Merck ... Hurler's syndrome (mucopolysaccharidosis) Niemann-Pick disease. Tay ... Lowe's oculocerebrorenal syndrome. Autosomal dominant disorders: Myotonic dystrophy ... http://www.merck.com/mmpe/print/sec19/ch299/ch299e.html   www.merck.com - summary PMID 17494094 F456-67 The renal Fanconi syndrome is a defect of proximal tubular function ... and Lowe syndrome are defined X-linked forms of Fanconi syndrome; there is ... http://www.ncbi.nlm.nih.gov/pubmed/17494094   www.ncbi.nlm.nih.gov - summary Genetic Diseases, X-Linked - Genetics Home Reference ... Lowry syndrome. deafness-dystonia ... fragile X syndrome. hemophilia ... Lesch-Nyhan syndrome. Lowe syndrome. Menkes syndrome. mucopolysaccharidosis type II ... http://ghr.nlm.nih.gov/conditionGroup=geneticdiseasesxlinked   ghr.nlm.nih.gov - summary Brain and nervous system - Genetics Home Reference Lowe syndrome ... Syndrome see Lowe syndrome. oculodentodigital ... Phosphatidylinositol-4,5-bisphosphate-5-phosphatase deficiency see Lowe syndrome ... http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/brainandnervoussystem   ghr.nlm.nih.gov - summary LOWE (OCULO-CEREBRO-RENAL) SYNDROME - Pedbase.org Lowe Syndrome first described in 1952 ... LOWE (OCULO-CEREBRO-RENAL) SYNDROME ... Powered by Database of Pediatrics- LOWE (OCULO-CEREBRO-RENAL) SYNDROME ... http://pedbase.org/l/lowe-syndrome_oculo-cerebro-renal-syndrome/   pedbase.org - summary show more 1  2