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Hypomaturation amelogenesis imperfecta

ORPHA:100033Clinical subtypeAutosomal recessive, X-linked dominant

Ассоциированные гены (7)

GPR68
G protein-coupled receptor 68
Disease-causing germline mutation(s) (loss of function) in
OMIM: 601404
AMELX
amelogenin X-linked
Disease-causing germline mutation(s) in
OMIM: 300391
KLK4
kallikrein related peptidase 4
Disease-causing germline mutation(s) in
OMIM: 603767
MMP20
matrix metallopeptidase 20
Disease-causing germline mutation(s) in
OMIM: 604629
WDR72
WD repeat domain 72
Disease-causing germline mutation(s) in
OMIM: 613214
ODAPH
odontogenesis associated phosphoprotein
Disease-causing germline mutation(s) (loss of function) in
OMIM: 614829
SLC24A4
solute carrier family 24 member 4
Disease-causing germline mutation(s) in
OMIM: 609840

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы