H01143 | |
H number | H01143 |
Name | Vitamin D-dependent rickets |
Description | Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent rickets (VDDR) type I results from abnormalities in the gene coding for 25(OH)D3-1-alpha-hydroxylase and vitamin D 25-hydroxylase, and type II results from defective vitamin D receptors. Both diseases are rare autosomal recessive disorders characterized by hypocalcemia, secondary hyperparathyroidism and early onset severe rickets. |
Category | Inherited metabolic disorder |
Network | nt06034(H01143) Cholesterol biosynthesis |
Gene | (VDDR1A) CYP27B1 [HSA:1594] [KO:K07438] (VDDR1B) CYP2R1 [HSA:120227] [KO:K07419] (VDDR2A) VDR [HSA:7421] [KO:K08539] (VDDR3) CYP3A4 [HSA:1576] [KO:K17689] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: 5B57.0 ICD-10: E55.0 MeSH: C562688 C564005 C562794 OMIM: 264700 277440 600081 619073 |
Reference | PMID:16939184 AUTHORS Nield LS, Mahajan P, Joshi A, Kamat D TITLE Rickets: not a disease of the past. JOURNAL Am Fam Physician 74:619-26 (2006) PMID:20511055 AUTHORS Malloy PJ, Feldman D TITLE Genetic disorders and defects in vitamin d action. JOURNAL Endocrinol Metab Clin North Am 39:333-46, table of contents (2010) DOI:10.1016/j.ecl.2010.02.004 PMID:15972816 (CYP27B1) AUTHORS Yamamoto K, Uchida E, Urushino N, Sakaki T, Kagawa N, Sawada N, Kamakura M, Kato S, Inouye K, Yamada S TITLE Identification of the amino acid residue of CYP27B1 responsible for binding of 25-hydroxyvitamin D3 whose mutation causes vitamin D-dependent rickets type 1. JOURNAL J Biol Chem 280:30511-6 (2005) DOI:10.1074/jbc.M505244200 PMID:15128933 (CYP2R1) AUTHORS Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW TITLE Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. JOURNAL Proc Natl Acad Sci U S A 101:7711-5 (2004) DOI:10.1073/pnas.0402490101 PMID:17970811 (VDR) AUTHORS Arita K, Nanda A, Wessagowit V, Akiyama M, Alsaleh QA, McGrath JA TITLE A novel mutation in the VDR gene in hereditary vitamin D-resistant rickets. JOURNAL Br J Dermatol 158:168-71 (2008) DOI:10.1111/j.1365-2133.2007.08232.x PMID:29461981 (CYP3A4) AUTHORS Roizen JD, Li D, O'Lear L, Javaid MK, Shaw NJ, Ebeling PR, Nguyen HH, Rodda CP, Thummel KE, Thacher TD, Hakonarson H, Levine MA TITLE CYP3A4 mutation causes vitamin D-dependent rickets type 3. JOURNAL J Clin Invest 128:1913-1918 (2018) DOI:10.1172/JCI98680 |