Hypocalcemic Vitamin D-Dependent Rickets (VDDI)

Alias:
Vitamin D-Dependent Rickets, Type 1
Vitamin D Dependent Rickets Type I
Pseudovitamin D-Deficient Rickets
1-Alpha-Hydroxylase Deficiency
Vitamin D-Dependency Type I
Vddr-I
Pddri
Vddi
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Hypocalcemic Vitamin D-Dependent Rickets, also known as vitamin d-dependent rickets, type 1, is related to vitamin d hydroxylation-deficient rickets, type 1a and vitamin d-dependent rickets, type 2a, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Hypocalcemic Vitamin D-Dependent Rickets is CYP27B1 (Cytochrome P450 Family 27 Subfamily B Member 1), and among its related pathways/superpathways are Metapathway biotransformation Phase I and II and Diseases of glycosylation. The drugs Parathyroid hormone and Teriparatide have been mentioned in the context of this disorder. Affiliated tissues include bone and cortex, and related phenotypes are rickets and hypocalcemia
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
--
2
14
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Medical Symptom

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Gene & Mutation

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References Literature

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