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Vitamin D-resistant rickets (medical condition): A form of rickets that is caused by Vitamin D resistance...more »
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Vitamin D resistant rickets:
»Introduction: Vitamin D resistant rickets
»Symptoms of Vitamin D resistant rickets
Vitamin D-resistant rickets: a group of metabolic disorders characterized by renal tubular defects in phosphate transport and bone abnormalities resulting in hypophosphatemic rickets or osteomalacia; hypocalcemia and tetany are not features. There is an autosomal dominant form [MIM*193100] and an X-linked dominant form [MIM*307800], the latter caused by mutation in the phosphate-regulating gene with homologies to endopeptidases (PHEX) on chromosome Xp. Both forms are not responsive to standard therapeutic doses of vitamin D but they may respond to very large doses of phosphate and/or vitamin D. There is also an autosomal recessive form [MIM*277440] caused by mutation in the vitamin D receptor gene (VDR) on 12q. Also sometimes called vitamin D-dependent rickets type II. SYN: familial hypophosphatemic rickets.
Source: Stedman's Medical Spellchecker, © 2006 Lippincott Williams & Wilkins. All rights reserved.
Vitamin D-resistant rickets: group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets.
Source: CRISP
These medical condition or symptom topics may be relevant to medical information for Vitamin D-resistant rickets:
Vitamin D-resistant rickets is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Vitamin D-resistant rickets, or a subtype of Vitamin D-resistant rickets,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Vitamin D-resistant rickets as a "rare disease".
Source - Orphanet
Vitamin D-resistant rickets (medical condition): See Vitamin D resistant rickets (disease information).
»Introduction: Vitamin D resistant rickets
»Symptoms of Vitamin D resistant rickets
Vitamin D-resistant rickets: Vitamin D-resistant rickets is listed as a type of (or associated with) the following medical conditions in our database:
These medical disease topics may be related to Vitamin D-resistant rickets:
Source - NIH
Source - CRISP
Source: CRISP
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