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Situs inversus totalis

ORPHA:101063Morphological anomalyAutosomal dominant, Autosomal recessive, Not applicable

Ассоциированные гены (10)

ANKS3
ankyrin repeat and sterile alpha motif domain containing 3
Disease-causing germline mutation(s) in
OMIM: 617310
NME7
NME/NM23 family member 7
Disease-causing germline mutation(s) in
OMIM: 613465
CITED2
Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2
Major susceptibility factor in
OMIM: 602937
NODAL
nodal growth differentiation factor
Disease-causing germline mutation(s) in
OMIM: 601265
CFAP53
cilia and flagella associated protein 53
Disease-causing germline mutation(s) in
OMIM: 614759
CFAP52
cilia and flagella associated protein 52
Disease-causing germline mutation(s) in
OMIM: 609804
MMP21
matrix metallopeptidase 21
Disease-causing germline mutation(s) (loss of function) in
OMIM: 608416
PKD1L1
polycystin 1 like 1, transient receptor potential channel interacting
Disease-causing germline mutation(s) in
OMIM: 609721
DNAH9
dynein axonemal heavy chain 9
Disease-causing germline mutation(s) (loss of function) in
OMIM: 603330
CIROP
ciliated left-right organizer metallopeptidase
Disease-causing germline mutation(s) in
OMIM: 619703

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы