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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H00214 | Hypophosphatemic rickets | ... in hypophosphatemia and rickets associated with mineralization defect. Fibroblast growth factor-23 (FGF23) regulates phosphate reabsorption in the kidney and therefore plays an essential role in phosphate ... | Inherited metabolic disorder |
(XLHR) PHEX [HSA:5251] [KO:K08636] (XLRH) CLCN5 [HSA:1184] [KO:K05012] (ADHR) FGF23 [HSA:8074] [KO:K22428] (ARHR1) DMP1 [HSA:1758] [KO:K23328] (ARHR2) ENPP1 [HSA:5167] [KO:K01513] (HHRH) SLC34A3 [HSA:142680] [KO:K14683] |
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| H01193 | Familial tumoral calcinosis | ... visceral organs. hFTC has been shown to result from mutations in three genes: fibroblast growth factor-23 (FGF23), KL encoding Klotho, and GALNT3, which encodes a glycosyltransferase responsible for FGF23 O-glycosylation; ... | Inherited metabolic disorder |
(HFTC1) GALNT3 [HSA:2591] [KO:K00710] (HFTC2) FGF23 [HSA:8074] [KO:K22428] (HFTC3) KL [HSA:9365] [KO:K14756] (NFTC) SAMD9 [HSA:54809] [KO:K23949] |
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| H02141 | Autosomal dominant hypophosphatemic rickets | ... osteomalacia, lower extremity deformities, short stature, bone pain and dental abscesses. The mutations in FGF23 cause ADHR. FGF23 is a circulatory hormone produced by osteocytes, but is also found in heart and ... | Inherited metabolic disorder | FGF23 [HSA:8074] [KO:K22428] |
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