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Browse result for Familial hypocalciuric hypercalcemia

※ introduction

    Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. It is also known as familial benign hypocalciuric hypercalcemia (FBHH) where there is usually a family history of hypercalcemia which is mild, a urine calcium to creatinine ratio <0.01, and urine calcium <200 mg/day.

Reference
Wiki: Familial hypocalciuric hypercalcemia



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD00999P299922767
GNA11
Guanine nucleotide-binding protein subunit alpha-11 subunit alpha)
Homo sapiens
PTMD05051P41180846
CASR
Extracellular calcium-sensing receptor
Homo sapiens
PTMD05556P536801175
AP2S1
AP-2 complex subunit sigma
Homo sapiens