Disease Information for Hypophosphatemia, familial

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Clinical Manifestations
Signs & Symptoms
Acute Motor Weakness
Diffuse Aches and Pains
Short stature
Short stature Child
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Laboratory Tests
Abnormal Lab Findings (Non Measured)
Stomatocytosis on Differential smear (Lab)
Abnormal Lab Findings - Decreased
Phosphate Serum (Lab)
Diagnostic Test Results
X-RAY
Xray/Delayed cranial ossification in a child/Head
Xray/Joint abnormal
Xray/Joint cartilage calcification
Associated Diseases & Rule outs
Rule Outs
Rickets/Vitamin D dependent/familial
Associated Disease & Complications
Hypophosphatemia
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Osteoporosis Secondary
Process
PROCESS/Biochemical (category)
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
Definition

Familial disorder characterized by hypophosphatemia associated with decreased renal tubular reabsorption of inorganic phosphorus. It is sometimes associated with osteomalacia or rickets which do not respond to the usual doses of vitamin D.

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External Links Related to Hypophosphatemia, familial
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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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