Hypocalciuric Hypercalcemia, Familial, Type Iii (HHC3)

Alias:

Familial Hypocalciuric Hypercalcemia 3

Familial Hypocalciuric Hypercalcemia Type 3

Fhh Type 3

Hhc3

Hypocalciuric Hypercalcemia, Type Iii

Hypocalciuric Hypercalcemia Type Iii

Fbh3

Hypercalcemia, Familial Benign, Oklahoma Type

Familial Benign Hypocalciuric Hypercalcemia 3

Familial Benign Hypercalcemia Oklahoma Type

Hypercalcemia, Familial Benign, Type Iii

Familial Benign Hypercalcemia, Type Iii

Hypocalciuric Hypercalcemia, Familial 3

Hypercalcemia, Familial Benign Type 3

Familial Benign Hypercalcemia 3

Fbhh3

Fhh3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Hypocalciuric Hypercalcemia, Familial, Type Iii, also known as familial hypocalciuric hypercalcemia 3, is related to hyperparathyroidism and multiple endocrine neoplasia, and has symptoms including bone pain An important gene associated with Hypocalciuric Hypercalcemia, Familial, Type Iii is AP2S1 (Adaptor Related Protein Complex 2 Subunit Sigma 1), and among its related pathways/superpathways are Signal Transduction and Transport of inorganic cations/anions and amino acids/oligopeptides. Affiliated tissues include bone and kidney, and related phenotypes are depression and muscle weakness

Related ID：

MALACARDS：HYP608

OMIM：600740

MESH：D006934