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

Vitamin D-Dependent Rickets, Type 2a(来自ICD-11)

别称:

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

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