Vitamin D-Dependent Rickets, Type 2a (VDDR2A)

Alias:

Hvdrr

Hypocalcemic Vitamin D-Resistant Rickets

Vitamin D-Resistant Rickets with End-Organ Unresponsiveness to 1,25-Dihydroxycholecalciferol

Generalized Resistance to 1,25-Dihydroxyvitamin D

Rickets, Hereditary Vitamin D-Resistant

Rickets, Vitamin D-Resistant, Type Iia

Vitamin D-Dependent Rickets Type 2a

Rickets-Alopecia Syndrome

Pddr Iia

Vddr2a

Vitamin D-Dependent Rickets, Type 2a, with or Without Alopecia

Vitamin D-Dependent Rickets Type 2a with or Without Alopecia

Vitamin D-Dependent Rickets Type Ii with Alopecia

Hypophosphatemic Rickets, X-Linked Dominant

Hereditary Vitamin D-Resistant Rickets

Rickets Hereditary Vitamin D-Resistant

Pseudovitamin D-Deficiency, Type Iia

Vitamin D-Dependent Rickets, Type Ii

Generalized 1,25-Dihydroxyvitamin D

Vitamin D-Dependent Rickets Type Ii

Vitamin D-Resistant Rickets Type Ii

Pseudovitamin D-Deficiency Type Iia

Vitamin D-Dependent Rickets, Type 2

Familial Hypophosphatemic Rickets

Rickets Vitamin D-Dependent 2a

Type Iia Rickets

Vddr Ii

Vdrr Ii

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Vitamin D-Dependent Rickets, Type 2a, also known as hvdrr, is related to hypocalcemic vitamin d-dependent rickets and nephrocalcinosis, and has symptoms including muscle weakness, bone pain and difficulty standing. An important gene associated with Vitamin D-Dependent Rickets, Type 2a is VDR (Vitamin D Receptor), and among its related pathways/superpathways are Metabolism of steroids and Vitamin D receptor pathway. The drugs Cholecalciferol and Antibodies, Monoclonal have been mentioned in the context of this disorder. Affiliated tissues include bone and cortex, and related phenotypes are hypophosphatemia and hyperparathyroidism

Related ID：

MALACARDS：VTM027

OMIM：277440

MESH：D012279