Familial isolated dilated cardiomyopathy
ORPHA:154DiseaseAutosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessiveAll ages
Ассоциированные гены53
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| TAF1A | TATA-box binding protein associated factor, RNA polymerase I subunit A | Disease-causing germline mutation(s) in | gene with protein product | 604903 |
| GET3 | guided entry of tail-anchored proteins factor 3, ATPase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 601913 |
| VEZF1 | vascular endothelial zinc finger 1 | Disease-causing germline mutation(s) in | gene with protein product | 606747 |
| RPL3L | ribosomal protein L3 like | Disease-causing germline mutation(s) in | gene with protein product | 617416 |
| MYBPC3 | myosin binding protein C3 | Disease-causing germline mutation(s) in | gene with protein product | 600958 |
| JPH2 | junctophilin 2 | Disease-causing germline mutation(s) in | gene with protein product | 605267 |
| PPCS | phosphopantothenoylcysteine synthetase | Disease-causing germline mutation(s) in | gene with protein product | 609853 |
| CAP2 | cyclase associated actin cytoskeleton regulatory protein 2 | Disease-causing germline mutation(s) in | gene with protein product | 618385 |
| LMOD2 | leiomodin 2 | Disease-causing germline mutation(s) in | gene with protein product | 608006 |
| ABCC9 | ATP binding cassette subfamily C member 9 | Disease-causing germline mutation(s) in | gene with protein product | 601439 |
| ACTC1 | actin alpha cardiac muscle 1 | Disease-causing germline mutation(s) in | gene with protein product | 102540 |
| PSEN1 | presenilin 1 | Disease-causing germline mutation(s) in | gene with protein product | 104311 |
| PSEN2 | presenilin 2 | Disease-causing germline mutation(s) in | gene with protein product | 600759 |
| SCN5A | sodium voltage-gated channel alpha subunit 5 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 600163 |
| SDHA | succinate dehydrogenase complex flavoprotein subunit A | Disease-causing germline mutation(s) in | gene with protein product | 600857 |
| SGCD | sarcoglycan delta | Disease-causing germline mutation(s) in | gene with protein product | 601411 |
| TAFAZZIN | tafazzin, phospholipid-lysophospholipid transacylase | Disease-causing germline mutation(s) in | gene with protein product | 300394 |
| TCAP | titin-cap | Disease-causing germline mutation(s) in | gene with protein product | 604488 |
| TNNI3 | troponin I3, cardiac type | Disease-causing germline mutation(s) in | gene with protein product | 191044 |
| TNNT2 | troponin T2, cardiac type | Disease-causing germline mutation(s) in | gene with protein product | 191045 |
| TPM1 | tropomyosin 1 | Disease-causing germline mutation(s) in | gene with protein product | 191010 |
| TTN | titin | Disease-causing germline mutation(s) in | gene with protein product | 188840 |
| CRYAB | crystallin alpha B | Disease-causing germline mutation(s) in | gene with protein product | 123590 |
| CSRP3 | cysteine and glycine rich protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 600824 |
| DES | desmin | Disease-causing germline mutation(s) in | gene with protein product | 125660 |
| DMD | dystrophin | Disease-causing germline mutation(s) in | gene with protein product | 300377 |
| DSG2 | desmoglein 2 | Disease-causing germline mutation(s) in | gene with protein product | 125671 |
| FKTN | fukutin | Disease-causing germline mutation(s) in | gene with protein product | 607440 |
| LDB3 | LIM domain binding 3 | Disease-causing germline mutation(s) in | gene with protein product | 605906 |
| DOLK | dolichol kinase | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 610746 |
| MYH6 | myosin heavy chain 6 | Disease-causing germline mutation(s) in | gene with protein product | 160710 |
| MYH7 | myosin heavy chain 7 | Disease-causing germline mutation(s) in | gene with protein product | 160760 |
| RAF1 | Raf-1 proto-oncogene, serine/threonine kinase | Disease-causing germline mutation(s) in | gene with protein product | 164760 |
| TMPO | thymopoietin | Disease-causing germline mutation(s) in | gene with protein product | 188380 |
| TNNC1 | troponin C1, slow skeletal and cardiac type | Disease-causing germline mutation(s) in | gene with protein product | 191040 |
| VCL | vinculin | Disease-causing germline mutation(s) in | gene with protein product | 193065 |
| ACTN2 | actinin alpha 2 | Disease-causing germline mutation(s) in | gene with protein product | 102573 |
| FHL2 | four and a half LIM domains 2 | Disease-causing germline mutation(s) in | gene with protein product | 602633 |
| PLN | phospholamban | Disease-causing germline mutation(s) in | gene with protein product | 172405 |
| BAG3 | BAG cochaperone 3 | Disease-causing germline mutation(s) in | gene with protein product | 603883 |
| RBM20 | RNA binding motif protein 20 | Disease-causing germline mutation(s) in | gene with protein product | 613171 |
| NEXN | nexilin F-actin binding protein | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 613121 |
| TXNRD2 | thioredoxin reductase 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 606448 |
| GATAD1 | GATA zinc finger domain containing 1 | Disease-causing germline mutation(s) in | gene with protein product | 614518 |
| MYPN | myopalladin | Disease-causing germline mutation(s) in | gene with protein product | 608517 |
| LAMA4 | laminin subunit alpha 4 | Disease-causing germline mutation(s) in | gene with protein product | 600133 |
| PRDM16 | PR/SET domain 16 | Disease-causing germline mutation(s) in | gene with protein product | 605557 |
| ANKRD1 | ankyrin repeat domain 1 | Disease-causing germline mutation(s) in | gene with protein product | 609599 |
| LMNA | lamin A/C | Disease-causing germline mutation(s) in | gene with protein product | 150330 |
| DSP | desmoplakin | Disease-causing germline mutation(s) in | gene with protein product | 125647 |
| HAND2 | heart and neural crest derivatives expressed 2 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 602407 |
| BAG5 | BAG cochaperone 5 | Disease-causing germline mutation(s) (loss of function) in | gene with protein product | 603885 |
| C10ORF71 | chromosome 10 open reading frame 71 | Disease-causing germline mutation(s) in | gene with protein product | 621202 |
Фенотипы (HPO)13
Очень частый (80–99%)2
HP:0001644Dilated cardiomyopathy
HP:0025169Left ventricular systolic dysfunction
Частый (30–79%)6
HP:0000969Edema
HP:0001635Congestive heart failure
HP:0002875Exertional dyspnea
HP:0011675Arrhythmia
HP:0012378Fatigue
HP:0012764Orthopnea
Периодический (5–29%)5
HP:0000407Sensorineural hearing impairment
HP:0001727Thromboembolic stroke
HP:0003198Myopathy
HP:0003457EMG abnormality
HP:0100578Lipoatrophy
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Annual incidence | 1-9 / 100 000 | 2.91 | Europe | Value and class |
| Point prevalence | 1-5 / 10 000 | 17.5 | Europe | Value and class |
| Annual incidence | 1-9 / 100 000 | 6 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)