Searching for Hypophosphatemic Rickets Support information? Find all needed info by using official links provided below.
https://rarediseases.info.nih.gov/diseases/6735/hypophosphatemic-rickets
Mar 01, 2016 · Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily, due to low levels of phosphate in the blood. Symptoms usually begin in early childhood and can range in severity.
https://ultrarareadvocacy.com/resources-learning/patient-support-resources/x-linked-hypophosphatemia-xlh/
X-linked hypophosphatemia (XLH) is a rare genetic disorder resulting from excess circulating fibroblast growth factor (FGF) 23, secondary to loss-of-function PHEX mutations (phosphate-regulating endopeptidase homolog, X-linked).
https://medicine.iu.edu/expertise/musculoskeletal-health/research/hypophosphatemic-rickets/
Hypophosphatemic rickets is an umbrella term that covers several forms of the disease. The most common type of hereditary hypophosphatemic rickets is called X-linked hypophosphatemia (XLH). It is also referred to as X-linked dominant hypophosphatemic rickets and X-linked vitamin d-resistant rickets.
https://rarediseases.org/rare-diseases/autosomal-recessive-hypophosphatemic-rickets-type-2/
Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a skeletal condition that is characterized by rickets, bone pain, bone deformities, increased risk of bone fractures, fatigue, short stature, and calcium deposits in the sites where ligaments and tendons attach to the bones (calcific ...
https://globalgenes.org/disease/hypophosphatemic-rickets/
Hypophosphatemic rickets (previously called vitamin D-resistant rickets) is a disorder in which the bones become painfully soft and bend easily because the blood contains low levels of phosphate and has inadequate amounts of the active form of vitamin D. The condition can be caused by mutations in the phosphate-regulating endopeptidase gene, also known as the PHEX gene
https://www.mdjunction.com/rickets-and-osteomalacia
The Rickets and Osteomalacia Support Group is a community of patients, family members and friends dedicated to dealing with Rickets and osteomalacia, together.
https://rarediseases.org/rare-diseases/familial-hypophosphatemia/
Familial hypophosphatemia is a term that describes a group of rare inherited disorders characterized by impaired kidney conservation of phosphate and in some cases, altered vitamin D metabolism. ... Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare bone disorder characterized by symptoms associated with hypophosphatemic ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3313733/
Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets…
https://en.wikipedia.org/wiki/X-linked_hypophosphatemia
X-linked hypophosphatemia (XLH), is an X-linked dominant form of rickets (or osteomalacia) that differs from most cases of rickets in that vitamin D supplementation does not cure it. It can cause bone deformity including short stature and genu varum (bow leggedness). It is associated with a mutation in the PHEX gene sequence (Xp.22) and subsequent inactivity of the PHEX protein.Specialty: Endocrinology, pediatrics
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