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
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
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
Population/Pediatrics population
Family History
Family history/Mental retardation
Family history/Kidney disease
Sex & Age Groups
Population/Boy patient
Population/Child-Infant Only
Population/Infant male
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Amino acids
URINE Bicarbonate
Associated Diseases & Rule outs
Associated Disease & Complications
Congenital cataracts
Congenital eye disease/eye anomalies
Congenital glaucoma
Fanconi's Hereditary Renal Syndrome
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/Pediatric disorders (ex)
CLASS/Neurologic (category)
CLASS/Renal/kidney involvement/disorder (ex)
CLASS/Extraocular muscle involvement/disorder (ex)
CLASS/Eye involvement/disorder (ex)
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/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)
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
Other Treatments
TX/Constitutional/No definitive treatment

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]----------------------------


External Links Related to Oculocerebrorenal dystrophy/Lowe syndrome
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)