Details of Disease | DrugMAP

General Information of Disease (ID: DISMB8DW)

Disease Name	Vitamin D-dependent rickets, type 1A
Synonyms	1-Alpha, 25-Hydroxyvitamin D3 deficiency, selective; vitamin D dependency, type 1; PDDR 1A; vitamin D hydroxylation-deficient rickets, type 1A; pseudovitamin D-deficiency rickets, type 1A; 25-hydroxycholecalciferol-1-Hydroxylase deficiency; VDDR1A; 1-Alpha-Hydroxylase deficiency; vitamin D-dependent rickets, type I; vitamin D-dependent rickets, type 1A
Disease Hierarchy	DIS5A054: Abnormal mineralization disorder DISC3UAJ: Vitamin D-dependent rickets DISBF2X7: Vitamin D-dependent rickets, type 1 DISMB8DW: Vitamin D-dependent rickets, type 1A

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
CYP27B1	DE3FYEM	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CYP27B1	OTTK98BH	Strong	Autosomal recessive	[1]
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References

1	Vitamin D 1alpha-hydroxylase gene mutations in patients with 1alpha-hydroxylase deficiency. J Clin Endocrinol Metab. 2007 Aug;92(8):3177-82. doi: 10.1210/jc.2006-2664. Epub 2007 May 8.