|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 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||Musculoskeletal disease; Inherited metabolic disease|
|Gene||(VDDR1A) CYP27B1 [HSA:1594] [KO:K07438]
(VDDR1B) CYP2R1 [HSA:120227] [KO:K07419]
(VDDR2A) VDR [HSA:7421] [KO:K08539]
|Other DBs||ICD-10: E55.0
MeSH: C562688 C564005 C562794
OMIM: 264700 277440 600081
|Reference||PMID:16939184 (description, gene, drug)
Nield LS, Mahajan P, Joshi A, Kamat D
Rickets: not a disease of the past.
Am Fam Physician 74:619-26 (2006)
PMID:20675935 (description, gene)
[Genetic basis for skeletal disease. Hereditary rickets].
Clin Calcium 20:1238-44 (2010)
PMID:20511055 (description, gene)
Malloy PJ, Feldman D
Genetic disorders and defects in vitamin d action.
Endocrinol Metab Clin North Am 39:333-46, table of contents (2010)
Casella SJ, Reiner BJ, Chen TC, Holick MF, Harrison HE
A possible genetic defect in 25-hydroxylation as a cause of rickets.
J Pediatr 124:929-32 (1994)
Cheng JB, Levine MA, Bell NH, Mangelsdorf DJ, Russell DW
Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase.
Proc Natl Acad Sci U S A 101:7711-5 (2004)