Hypocalcified amelogenesis imperfecta

ORPHA:100032Clinical subtypeAutosomal dominant, Autosomal recessive

Ассоциированные гены (5)

RELT TNF receptor

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

family with sequence similarity 83 member H

Disease-causing germline mutation(s) in

solute carrier family 24 member 4

Disease-causing germline mutation(s) in

integrin subunit beta 6

Disease-causing germline mutation(s) in

amelotin

Disease-causing germline mutation(s) in

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

Orphanet OMIM Open Targets ClinicalTrials

Hypocalcified amelogenesis imperfecta

ORPHA:100032Clinical subtypeAutosomal dominant, Autosomal recessive

Ассоциированные гены5

Ген	Полное название	Тип связи	Тип гена	OMIM
RELT	RELT TNF receptor	Disease-causing germline mutation(s) (loss of function) in	gene with protein product	611211
FAM83H	family with sequence similarity 83 member H	Disease-causing germline mutation(s) in	gene with protein product	611927
SLC24A4	solute carrier family 24 member 4	Disease-causing germline mutation(s) in	gene with protein product	609840
ITGB6	integrin subunit beta 6	Disease-causing germline mutation(s) in	gene with protein product	147558
AMTN	amelotin	Disease-causing germline mutation(s) in	gene with protein product	610912

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)