Vitamin D Hydroxylation-Deficient Rickets, Type 1b (VDDR1B)

Alias:

Vitamin D-Dependent Rickets Type 1b

Vddr1b

Pseudovitamin D(3) Deficiency Rickets Due to 25-Hydroxylase Deficiency

Pseudovitamin D3 Deficiency Rickets Due to 25-Hydroxylase Deficiency

Rickets Due to Defect in Vitamin D 25-Hydroxylation Deficiency

Rickets Due to Defect in Vitamin D 25-Hydroxylation

Selective 25-Hydroxyvitamin D(3) Deficiency

25-Hydroxyvitamin D3 Deficiency, Selective

25-Hydroxyvitamimn D3 Deficiency Selective

Vitamin D-Dependent Rickets, Type 1b

25-Hydroxyvitamin D(3) Deficiency

Rickets Vitamin D-Dependent 1b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Vitamin D Hydroxylation-Deficient Rickets, Type 1b, also known as vitamin d-dependent rickets type 1b, is related to vitamin d-dependent rickets and vitamin d hydroxylation-deficient rickets, type 1a, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D Hydroxylation-Deficient Rickets, Type 1b is CYP2R1 (Cytochrome P450 Family 2 Subfamily R Member 1), and among its related pathways/superpathways are Metabolism of steroids and Vitamin D receptor pathway. The drugs Hydroxocobalamin and Iron have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are hypophosphatemia and hypocalcemia

Related ID：

MALACARDS：VTM029

OMIM：600081

MESH：D012279