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Table 1 Non-nutritional diseases of hypophosphatemia

From: FGF23 and its role in X-linked hypophosphatemia-related morbidity

Disease of interest Abbreviation MIM# Gene affected FGF23 levels Hypophosphatemia Calcitriol levels Osteomalacia/ rickets/stunted growth Craniofacial abnormalities Dental abscesses Enthesopathies Nephrocalcinosis Hearing loss Hypertension References
X-linked hypophosphatemia XLH 307800 PHEX Y Normal or low 1st 1st 1st 1st 2nd 1st Y [3, 9]
Autosomal dominant hypophosphatemic rickets ADHR 193100 FGF23 Y Normal or low 1st N/A 1st N/A N/A N/A N/A [51]
Autosomal recessive hypophosphatemic rickets 1 ARHR1 241520 DMP1 Y N/A 1st 1st 1st Y N/A N/A Y [52]
Autosomal recessive hypophosphatemic rickets 2 ARHR2 613312 ENPP1 Y N/A 1st N/A 1st N/A N/A Has been associated with GACI 1st [GACI, [248]] [26]
Autosomal recessive hypophosphatemic rickets 3 (Raine Syndrome) ARHR3 259775 FAM20C Y N/A Not mentioned in the very few cases that survived to preadolescence 1st N/A N/A N/A N/A N/A [25]
Tumor-induced osteomalacia TIO N/A N/A Y Low 1st No N/A N/A N/A N/A N/A [249, 250]
Hypophosphatemic rickets with hypercalciuria HHRH 241530 SLC34A3 (NPT2C) - Y Elevated 1st N/A N/A N/A 1st (hypercalciuria) N/A N/A [251]
  1. ↑: elevated, -: normal, N: no, Y: yes, 1st: primary effect, 2nd: secondary effect (caused by conventional treatment), N/A = not assessed, MIM = Mendelian Inheritance in Man