Genomic coordinate (human 12:4,368,277 FGF23) & (human X:22,032,325 PHEX).
Cytoband (human 12p13.32 FGF23) & (human Xp22.2 PHEX).
OMIM’ genes: 12 @ 12p13.32 & 49 @ Xp22.2
Polymorphs = 255 FGF23 & 800 PHEX.
Here I 🎁 present: “Hypophosphatemic Rickets”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ADHR)
Hypophosphatemic rickets (ADHR) is an autosomal dominant, hereditary disease in which excessive loss of phosphate in the urine leads to poorly formed bones (rickets), bone pain, and tooth abscesses. ADHR is caused by a mutation in the fibroblast growth factor-23 (FGF23). ADHR affects men and women equally; symptoms may become apparent at any point from childhood through early adulthood. Blood tests reveal low levels of phosphate (hypophosphatemia) and inappropriately normal levels of vitamin D. Occasionally, hypophosphatemia may improve over time as urine losses of phosphate partially correct.
ADHR may be lumped in with X-linked hypophosphatemia under general terms such as, PHEX gene hypophosphatemic rickets. Hypophosphatemic rickets are associated with at least nine other genetic mutations. Clinical management of hypophosphatemic rickets may differ depending on the specific mutations associated with an individual case, but treatments are aimed at raising phosphate levels to promote normal bone formation.
