Details of Disease | DrugMAP

General Information of Disease (ID: DISLUITH)

Disease Name	Vitamin D hydroxylation-deficient rickets, type 1B
Synonyms	vitamin D-dependent rickets, type 1B; VDDR1B; 25-Hydroxyvitamin D3 deficiency, selective; Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency; Vitam D hydroxylation-deficient rickets type 1b; CYP2R1 vitamin D-dependent rickets, type 1; vitamin D hydroxylation-deficient rickets, type 1B; vitamin D hydroxylation-deficient rickets type 1b; vitamin D 25-Hydroxylase deficiency; rickets due to defect in vitamin D 25-hydroxylation deficiency; vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1
Definition	An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets.
Disease Hierarchy	DIS7HZ3M: Steroid metabolism disease DIS5A054: Abnormal mineralization disorder DISBF2X7: Vitamin D-dependent rickets, type 1 DISEOA7S: Lipid metabolism disorder DISLUITH: Vitamin D hydroxylation-deficient rickets, type 1B
Disease Identifiers	MONDO ID MONDO_0010810 MESH ID C564005 UMLS CUI C1838657 OMIM ID 600081 MedGen ID 374020

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP2R1	DEBIHM3	Limited	Genetic Variation	[1]
CYP2R1	DEBIHM3	Strong	Autosomal recessive	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP2R1	OT0L1M1D	Strong	Autosomal recessive	[2]
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References

1	CYP2R1 mutations causing vitamin D-deficiency rickets.J Steroid Biochem Mol Biol. 2017 Oct;173:333-336. doi: 10.1016/j.jsbmb.2016.07.014. Epub 2016 Jul 27.
2	Genetic evidence that the human CYP2R1 enzyme is a key vitamin D 25-hydroxylase. Proc Natl Acad Sci U S A. 2004 May 18;101(20):7711-5. doi: 10.1073/pnas.0402490101. Epub 2004 May 5.