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- Disease Information
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Disease Information for Oculocerebrorenal dystrophy/Lowe syndrome
- Clinical Manifestations
- Signs & Symptoms
- Hyperextensable Joints Infant
- Particular physiognomy/Odd looking kids
- Craniofacial Abnormalities/Congenital
- Facies particular
- Anorexia in Infant
- Failure to Thrive
- Failure to Thrive Child
- Failure to thrive/infant sign
- Feeding/Apetite Problems Child
- Tongue Protrudes Infant
- Delay Sitting Unsupported Infant
- Hypotonia
- Mouth Hangs Open Infant
- Muscles Soft/Doughy Infant
- Rolling Over Delay Infant
- Babkin infant sign/Abnormal
- Delayed walking milestone/child
- Development Motor Skills (Milestones) Delayed
- Galant Infant reflex/Abnormal
- Head Neck Floppy Infant Hypotonia Sign
- Hyporeflexia/DTRs decreased
- Infant Head Support Delay
- Mental Deficiency Child
- Moro reflex Poor/Absent Infant
- Palmar Grasp infant Reflex Abnormal
- Primitive infant reflexes/Abnormal
- Rooting infant sign/Abnormal
- Swimming infant reflex/Abnormal
- Tonic Neck Infant reflex/Abnormal
- Weak reflexes
- Shallow Breathing Infant
- Skeletal problems/symptoms/signs
- Short stature
- Short stature Child
- Blue Sclera
- Eye symptoms/signs
- Eyelid Retraction
- Miosis/narrow pupils
- Proptosis,bilateral
- Clinical Presentation & Variations
- Presentation/Multiple deformities newborn (odd look)
- Presentation/Kidney malformations Congenital syndrome Child
- Disease Progression
- Course/Chronic disorder
- Course/Chronic only
- Demographics & Risk Factors
- Population Group
- Child
- Population/Pediatrics population
- Family History
- Family history/Mental retardation
- Family history/Kidney disease
- Sex & Age Groups
- Population/Boy patient
- Population/Child
- Population/Child-Infant Only
- Population/Children/all
- Population/Infant male
- Population/Male
- Laboratory Tests
- Abnormal Lab Findings - Increased
- URINE Amino acids
- URINE Bicarbonate
- Associated Diseases & Rule outs
- Associated Disease & Complications
- Aminoaciduria
- Cataract
- Congenital cataracts
- Congenital eye disease/eye anomalies
- Congenital glaucoma
- Exophthalmos
- Fanconi's Hereditary Renal Syndrome
- Glaucoma
- Mental retardation
- Neonatal Hypotonia/Floppy Baby Syndrome
- Oculocerebrorenal dystrophy/Lowe's syndrome
- Recurrent bone fractures
- Renal osteodystrophy
- Renal tubular acidosis
- Rickets/vitamin D deficiency
- Vitamin D Dependent rickets/familial
- Disease Mechanism & Classification
- Class
- CLASS/Pediatric disorders (ex)
- CLASS/Neurologic (category)
- CLASS/Renal/kidney involvement/disorder (ex)
- CLASS/Extraocular muscle involvement/disorder (ex)
- CLASS/Eye involvement/disorder (ex)
- Pathophysiology
- Pathophysiology/Gene locus Chromosome X.
- Pathophysiology/Gene Locus Identified/OMIM database
- Pathophysiology/Gene locus Xq26.1
- Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
- Pathophysiology/Phosphatidylinositol-biphosphate 5 phospatase absent
- Pathophysiology/Hereditary disease renal effect
- Pathophysiology/OCRL1 Gene Mutation
- Pathophysiology/PIP2-5 Phosphatase Defect
- Process
- PROCESS/Congenital/developmental (category)
- PROCESS/Enzyme defect/Metabolic disorder (ex)
- PROCESS/Hereditofamilial (category)
- PROCESS/INCIDENCE/Extremely rare disease
- PROCESS/Metabolic/storage disorder (category)
- PROCESS/Sex-linked (X-linked) recessive inheritance (ex)
- PROCESS/Dystostosis/craniofacial (ex)
- Synonyms
- Synonym
- Cerebro Oculo Renal Syndrome, Cerebro Oculo Renal Syndromes, Cerebro oculorenal dystrophy, cerebrooculorenal syndrome, Cerebrooculorenal Syndromes, Dystrophies Oculocerebrorenal, Dystrophy Oculocerebrorenal, Lowe Bickel Syndrome, LOWE DIS, Lowe Disease, LOWE OCULOCEREBRORENAL SYNDROME, Lowe syndrome, Lowe syndrome (disorder), Lowe syndrome (LS), Lowe Terrey MacLachlan Syndrome, Lowe's syndrome, OCRL, OCRL1, oculocerebrorenal (OCR OCRL) syndrome, Oculocerebrorenal Dystrophies, oculocerebrorenal dystrophy, Oculocerebrorenal syndrome, oculocerebrorenal syndrome of Lowe, Phosphat 4 5 bisph5phosph def, Phosphatidylinositol 4 5 bisphosphate 5 phosphatase defic, PHOSPHATIDYLINOSITOL 4 5 BISPHOSPHATE 5 PHOSPHATASE DEFICIENCY, Phosphatidylinositol 4 5 bisphosphate 5 phosphatase deficiency (disorder), Renal Oculocerebrodystrophies, Renal Oculocerebrodystrophy, Synonym/Glaucoma/retardation/organic aciduria synd., Synonym/Lowe Syndrome (oculocerebral), Synonym/Lowe-Bickel Syndrome, Synonym/Lowe's Oculocerebralrenal Syndrome, Synonym/Lowe-Terry-MacLachlan Syndrome, Synonym/Renal-Oculocerebral dystrophy
- Treatment
- Other Treatments
- TX/Constitutional/No definitive treatment
- Definition
-
Lowe Syndrome; Cerebro-Oculorenal Dystrophy; LS; Lowe"s Disease; Lowe-Bickel Syndrome; Lowe-Terry-MacLachlan Syndrome; OCRL; Oculocerebrorenal Dystrophy; Oculocerebrorenal Syndrome; Renal-Oculocerebrodystrophy;
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 (eg, 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-----[NORD 2005]----------------------------
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- External Links Related to Oculocerebrorenal dystrophy/Lowe syndrome
- Wikipedia
- Merck
- Images
- PubMed (National Library of Medicine)
- NGC (National Guideline Clearinghouse)
- Medscape (eMedicine)
- Harrison's Online (accessmedicine)
- NEJM (The New England Journal of Medicine)
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