Hypophosphatemic Rickets, X-Linked Dominant (XLHR)

Alias:

X-Linked Hypophosphatemia

Xlh

Vitamin D-Resistant Rickets, X-Linked

X-Linked Hypophosphatemic Rickets

Xlhr

Hyp

Hypophosphatemic Vitamin D-Resistant Rickets

X-Linked Dominant Hypophosphatemic Rickets

Familial Hypophosphatemic Rickets

Hpdr

Familial X-Linked Hypophosphatemic Vitamin D Refractory Rickets

Hypophosphatemia, Vitamin D-Resistant Rickets

Rickets, Hypophosphatemic, X-Linked Dominant

Hypophosphatemic Rickets X-Linked Dominant

X-Linked Vitamin D-Resistant Rickets

Vitamin D-Resistant Rickets X-Linked

Rickets, X-Linked Hypophosphatemic

Vitamin D-Resistant Rickets

Hypophosphatemia, X-Linked

Hypophosphatemia X-Linked

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypophosphatemic Rickets, X-Linked Dominant, also known as x-linked hypophosphatemia, is related to vitamin d-dependent rickets, type 2a and hypophosphatemia, and has symptoms including arthralgia and bone pain. An important gene associated with Hypophosphatemic Rickets, X-Linked Dominant is PHEX (Phosphate Regulating Endopeptidase X-Linked), and among its related pathways/superpathways are Signal Transduction and Phospholipase-C Pathway. The drugs Calcitriol and Cholecalciferol have been mentioned in the context of this disorder. Affiliated tissues include Kidney and bone, and related phenotypes are hypophosphatemia and rickets

Related ID：

MALACARDS：HYP609

OMIM：307800

MESH：D053098