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Familial Hypophosphatemic Rickets (X-Linked Hypophosphatemia)

A hereditary disorder characterized by HYPOPHOSPHATEMIA; RICKETS; OSTEOMALACIA; renal defects in phosphate reabsorption and vitamin D metabolism; and growth retardation. Autosomal and X-linked dominant and recessive variants have been reported.
Also Known As:
X-Linked Hypophosphatemia; Generalized Resistance To 1,25-Dihydroxyvitamin D; Hereditary Hypophosphatemic Rickets; Hereditary Vitamin D-Resistant Rickets; Hypocalcemic Vitamin D-Resistant Rickets; Hypophosphatemia, X-Linked; Hypophosphatemic Rickets, X-Linked Recessive; Rickets, Hereditary Vitamin D-Resistant; Vitamin D-Resistant Rickets With End-Organ Unresponsiveness To 1,25-Dihydroxycholecalciferol; Vitamin D-Resistant Rickets, Hereditary; Vitamin D-Resistant Rickets, X-Linked; Generalized Resistance To 1,25 Dihydroxyvitamin D; Hereditary Vitamin D Resistant Rickets; Hypocalcemic Vitamin D Resistant Rickets; Hypophosphatemia, X Linked; Hypophosphatemic Rickets, Familial; Hypophosphatemic Rickets, Hereditary; Hypophosphatemic Rickets, X Linked Dominant; Hypophosphatemic Rickets, X Linked Recessive; Hypophosphatemic Rickets, X-Linked; Rickets, Familial Hypophosphatemic; Rickets, Hereditary Hypophosphatemic; Rickets, Hereditary Vitamin D Resistant; Vitamin D Resistant Rickets With End Organ Unresponsiveness To 1,25 Dihydroxycholecalciferol; Vitamin D Resistant Rickets, Hereditary; Vitamin D Resistant Rickets, X Linked; X Linked Hypophosphatemia; X-Linked Hypophosphatemic Rickets; Hypophosphatemic Rickets, X-Linked Dominant; Rickets, X-Linked Hypophosphatemic
Networked: 664 relevant articles (20 outcomes, 48 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Rickets (Rachitis)
2. Osteomalacia
3. Oncogenic osteomalacia
4. Hypophosphatemia
5. Congenital Abnormalities (Deformity)

Experts

1. Carpenter, Thomas O: 22 articles (01/2022 - 09/2009)
2. Imel, Erik A: 21 articles (01/2022 - 08/2007)
3. Linglart, Agnès: 17 articles (01/2022 - 01/2013)
4. Portale, Anthony A: 14 articles (01/2022 - 11/2007)
5. Feldman, David: 14 articles (01/2014 - 11/2002)
6. Malloy, Peter J: 13 articles (01/2014 - 11/2002)
7. Ozono, Keiichi: 12 articles (05/2022 - 01/2005)
8. Chaussain, Catherine: 12 articles (01/2022 - 01/2013)
9. Fukumoto, Seiji: 12 articles (12/2021 - 07/2003)
10. McKee, Marc D: 11 articles (10/2020 - 12/2002)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Familial Hypophosphatemic Rickets:
1. burosumabIBA
2. Phosphates (Orthophosphate)IBA
3. Phosphorus (Red Phosphorus)IBA
4. Vitamin DFDA LinkGeneric
5. Fibroblast Growth Factor-23IBA
6. Calcitriol (Calcijex)FDA LinkGeneric
7. 1,25-dihydroxyvitamin DIBA
8. Monoclonal AntibodiesIBA
9. Proteins (Proteins, Gene)FDA Link
10. SaltsIBA

Therapies and Procedures

1. Therapeutics
2. Punctures
3. Parathyroidectomy
4. Osteotomy
5. Laminoplasty