Vitamin D Hydroxylation-Deficient Rickets, Type 1a (VDDR1A)

Alias:

Vitamin D-Dependent Rickets, Type 1a

Vitamin D-Dependent Rickets, Type 1

25-Hydroxycholecalciferol-1-Hydroxylase Deficiency

Vitamin D-Dependent Rickets, Type I

Vitamin D-Dependent Rickets Type 1a

1-Alpha-Hydroxylase Deficiency

Pddr Ia

Vddr1a

Pddr1a

Vdd1

1-Alpha, 25-Hydroxyvitamin D3 Deficiency, Selective

1-Alpha 25-Hydroxyvitamin D3 Deficiency Selective

Pseudovitamin D-Deficiency Rickets, Type Ia

Pseudovitamin D-Deficiency Rickets Type Ia

Pseudovitamin D Deficiency Rickets

Rickets Vitamin D-Dependent 1a

Vitamin D Dependency, Type 1

Vitamin D Dependency Type 1

Pddr

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Vitamin D Hydroxylation-Deficient Rickets, Type 1a, also known as vitamin d-dependent rickets, type 1a, is related to hypocalcemic vitamin d-dependent rickets and hypoparathyroidism, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D Hydroxylation-Deficient Rickets, Type 1a is CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1), and among its related pathways/superpathways are Infectious disease and Metapathway biotransformation Phase I and II. The drugs Parathyroid hormone and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone and kidney, and related phenotypes are rickets and hypocalcemia

Related ID：

MALACARDS：VTM026

OMIM：264700

MESH：D012279