Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease BEFREE Vitamin D requires a two-step activation by hydroxylation: The first step is catalyzed by hepatic 25-hydroxylase (CYP2R1, 11p15.2) and the second one is catalyzed by renal 1α-hydroxylase (CYP27B1, 12q13.1), which produces the active hormonal form of 1,25-(OH)<sub>2</sub> D. Mutations of CYP2R1 have been associated with vitamin D-dependent rickets type 1B (VDDR1B), a very rare condition that has only been reported to affect 4 families to date. 28548312 2017
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease BEFREE We conclude that mutations in CYP2R1 are responsible for an atypical form of vitamin D-deficiency rickets, which has been classified as vitamin D dependent rickets type 1B (VDDR1B, MIM 600081). 27473561 2017
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 Biomarker disease GENOMICS_ENGLAND Sequence analysis of four vitamin D family genes (VDR, CYP24A1, CYP27B1 and CYP2R1) in Vogt-Koyanagi-Harada (VKH) patients: identification of a potentially pathogenic variant in CYP2R1. 27716192 2016
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease UNIPROT CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. 25942481 2015
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 Biomarker disease GENOMICS_ENGLAND CYP2R1 Mutations Impair Generation of 25-hydroxyvitamin D and Cause an Atypical Form of Vitamin D Deficiency. 25942481 2015
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease BEFREE Absence of mutation in coding regions of CYP2R1 gene in apparent autosomal dominant vitamin D 25-hydroxylase deficiency rickets. 22419701 2012
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 GeneticVariation disease UNIPROT Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. 15128933 2004
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 Biomarker disease CTD_human
CUI: C1838657
Disease: Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Vitamin D Hydroxylation-Deficient Rickets, Type 1B 		0.730 CausalMutation disease CLINVAR