Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

ORPHA:306661Clinical subtypeAutosomal recessive

Ассоциированные гены (3)

fibroblast growth factor 23

Disease-causing germline mutation(s) (loss of function) in

polypeptide N-acetylgalactosaminyltransferase 3

Disease-causing germline mutation(s) (loss of function) in

klotho

Disease-causing germline mutation(s) (loss of function) in

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)

ORPHA:306661Clinical subtypeAutosomal recessive

Ген	Полное название	Тип связи	Тип гена	OMIM
FGF23	fibroblast growth factor 23	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	605380
GALNT3	polypeptide N-acetylgalactosaminyltransferase 3	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	601756
KL	klotho	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	604824

Источник: Open Targets Platform (в реальном времени)

Источник: ClinicalTrials.gov (в реальном времени)