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Left ventricular noncompaction

ORPHA:54260DiseaseAutosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessiveAll ages

Ассоциированные гены (15)

PLEKHM2
pleckstrin homology and RUN domain containing M2
Major susceptibility factor in
OMIM: 609613
TNNT2
troponin T2, cardiac type
Disease-causing germline mutation(s) in
OMIM: 191045
PKP2
plakophilin 2
Disease-causing germline mutation(s) in
OMIM: 602861
ACTC1
actin alpha cardiac muscle 1
Major susceptibility factor in
OMIM: 102540
TBX20
T-box transcription factor 20
Disease-causing germline mutation(s) in
OMIM: 606061
TPM1
tropomyosin 1
Disease-causing germline mutation(s) in
OMIM: 191010
DTNA
dystrobrevin alpha
Candidate gene tested in
OMIM: 601239
MYBPC3
myosin binding protein C3
Candidate gene tested in
OMIM: 600958
MYH7
myosin heavy chain 7
Disease-causing germline mutation(s) in
OMIM: 160760
LDB3
LIM domain binding 3
Major susceptibility factor in
OMIM: 605906
LMNA
lamin A/C
Major susceptibility factor in
OMIM: 150330
MIB1
MIB E3 ubiquitin protein ligase 1
Disease-causing germline mutation(s) (loss of function) in
OMIM: 608677
PRDM16
PR/SET domain 16
Disease-causing germline mutation(s) in
OMIM: 605557
MYH7B
myosin heavy chain 7B
Disease-causing germline mutation(s) in
OMIM: 609928
MIB2
MIB E3 ubiquitin protein ligase 2
Major susceptibility factor in
OMIM: 611141

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы

OrphanetOMIMOpen TargetsClinicalTrials