Disease: Rickets ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease BEFREE Adult Cyp27b1 null mice lack calcitriol and have hypocalcemia, hypophosphatemia, and rickets. 28686309 2018
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE Mutations of the activating enzymes CYP2R1 and CYP27B1 cause lack of normal 1,25-(OH)<sub>2</sub>D<sub>3</sub> synthesis and result in rickets whereas mutations of the inactivating enzyme CYP24A1 cause build-up of excess 1,25-(OH)<sub>2</sub>D<sub>3</sub> and result in hypercalcemia, nephrolithiasis, and nephrocalcinosis. 29080636 2017
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE This rare case report of VDDR-1A with normal levels of 1,25-(OH)2 vitamin D enhances our awareness for this type of rickets in clinical practice. 27287609 2017
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE Pseudovitamin D deficiency is the consequence of a genetic defect in the CYP27B1 gene resulting in diminished or absent conversion of 25-hydroxyvitamin D3 (25-(OH)D3) into 1,25-dihydroxyvitamin D3 (1,25-(OH)2D3) and leads to growth retardation and rickets, usually in the first 2 years of life. 27364341 2016
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE Multiple mutations have been identified in VDR and CYP27B1 in patients with rickets, and thus, the roles of these two genes in vitamin D metabolism are unassailable. 22855339 2012
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE A causative role for CYP27B1 in MS is supported; the mutations identified are known to alter function having been shown in vivo to result in rickets when 2 copies are present. 22190362 2011
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE Here, we describe a patient with VDDR-type II with severe alopecia and rickets. 19921089 2010
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE We have identified 3 patients with this disease who later developed MS. We propose that VDDR I and possibly other hereditary rickets mutations that influence vitamin D metabolism could be risk factors for this disease. 18541802 2008
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE Vitamin D 1alpha-hydroxylase deficiency, also known as vitamin D-dependent rickets type 1, is an autosomal recessive disorder characterized by the early onset of rickets with hypocalcemia and is caused by mutations of the 25-hydroxyvitamin D 1alpha-hydroxylase (1alpha-hydroxylase, CYP27B1) gene. 17488797 2007
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease CTD_human [Vitamin D1alpha-hydroxylase deficiency as the cause of severe rickets in a 1-year-old-old boy]. 16494812 2006
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease BEFREE Increased awareness of these diseases will allow early diagnosis and potential therapeutic intervention for the rickets in VDDR IIA and avoidance of treatment of the atrichia in both APL and VDDR IIA. 14676077 2003
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease MGD Mutations in the 25-hydroxyvitamin D-1alpha-hydroxylase gene (CYP27B1; 1alpha-OHase) cause pseudo vitamin D deficiency rickets (PDDR), while mutations in the vitamin D receptor (VDR) cause hereditary vitamin D resistance rickets. 12689675 2003
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease MGD Rescue of the pseudo-vitamin D deficiency rickets phenotype of CYP27B1-deficient mice by treatment with 1,25-dihydroxyvitamin D3: biochemical, histomorphometric, and biomechanical analyses. 12674324 2003
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease MGD Modulation of renal Ca2+ transport protein genes by dietary Ca2+ and 1,25-dihydroxyvitamin D3 in 25-hydroxyvitamin D3-1alpha-hydroxylase knockout mice. 12205031 2002
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease MGD Targeted inactivation of the 25-hydroxyvitamin D(3)-1(alpha)-hydroxylase gene (CYP27B1) creates an animal model of pseudovitamin D-deficiency rickets. 11416036 2001
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease MGD Targeted ablation of the 25-hydroxyvitamin D 1alpha -hydroxylase enzyme: evidence for skeletal, reproductive, and immune dysfunction. 11416220 2001
CUI: C0035579
Disease: Rickets
Rickets 		0.700 GeneticVariation disease BEFREE One of three kinds of hereditary rickets (vitamin D-dependent rickets type I) displays an autosomal recessive trait and clinical features consistent with a defect of 1 alpha-hydroxylase activity, and the genetic analysis of the type I patients identified missense mutations of the 1 alpha(OH)ase gene that results in a loss of this enzymatic activity. 9690035 1998
CUI: C0035579
Disease: Rickets
Rickets 		0.700 Biomarker disease HPO