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

Vitamin D Hydroxylation-Deficient Rickets, Type 1b(来自ICD-11)

别称:

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

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