Cardiomyopathy, dilated, 1G
General Information (adopted from Orphanet):
| Synonyms, Signs: |
CMD1G |
| Number of Symptoms | 1 |
| OrphanetNr: | |
| OMIM Id: |
604145
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant Monogenic 10051295 [IBIS] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Familial isolated dilated cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
| Cardiomyopathy, dilated, 1G is associated with mutations in TTN (PMID:11788824). |
Symptom Information:
|
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(HPO:0001644) | Dilated cardiomyopathy | 11788824 | IBIS | 141 / 7739 |
Associated genes:
| TTN; |
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
|---|---|---|---|
| TTN | rs139517732 | pathogenic | RCV000013492.17 |
| TTN | rs147879266 | pathogenic | RCV000013494.23 |
| TTN | rs267607155 | pathogenic | RCV000013486.23 |
| TTN | rs267607157 | pathogenic | RCV000013491.17 |
| TTN | rs267607158 | pathogenic | RCV000013493.17 |
| TTN | rs371678190 | likely pathogenic | RCV000152238.1 |
| TTN | rs397517497 | likely pathogenic | RCV000039959.2 |
| TTN | rs397517547 | likely pathogenic | RCV000040169.2 |
| TTN | rs397517565 | likely pathogenic | RCV000040217.2 |
| TTN | rs397517576 | likely pathogenic | RCV000040246.2 |
| TTN | rs397517580 | likely pathogenic | RCV000040256.2 |
| TTN | rs397517584 | likely pathogenic | RCV000040267.2 |
| TTN | rs397517586 | likely pathogenic | RCV000040273.2 |
| TTN | rs397517587 | likely pathogenic | RCV000040274.2 |
| TTN | rs397517589 | likely pathogenic | RCV000040282.2 |
| TTN | rs397517601 | likely pathogenic | RCV000040317.2 |
| TTN | rs397517620 | likely pathogenic | RCV000040362.2 |
| TTN | rs397517624 | likely pathogenic | RCV000040383.2 |
| TTN | rs397517626 | likely pathogenic | RCV000040385.2 |
| TTN | rs397517628 | likely pathogenic | RCV000040389.2 |
| TTN | rs397517631 | likely pathogenic | RCV000040399.2 |
| TTN | rs397517633 | likely pathogenic | RCV000040401.2 |
| TTN | rs397517643 | likely pathogenic | RCV000040417.2 |
| TTN | rs397517664 | likely pathogenic | RCV000040507.2 |
| TTN | rs397517679 | likely pathogenic | RCV000040543.2 |
| TTN | rs397517689 | pathogenic | RCV000040571.3 |
| TTN | rs397517695 | likely pathogenic | RCV000040593.2 |
| TTN | rs397517696 | likely pathogenic | RCV000040594.2 |
| TTN | rs397517698 | likely pathogenic | RCV000040597.2 |
| TTN | rs397517721 | likely pathogenic | RCV000040667.2 |
| TTN | rs397517735 | likely pathogenic | RCV000040727.2 |
| TTN | rs397517741 | likely pathogenic | RCV000040755.2 |
| TTN | rs397517749 | likely pathogenic | RCV000040767.2 |
| TTN | rs397517750 | likely pathogenic | RCV000040769.2 |
| TTN | rs397517758 | likely pathogenic | RCV000040804.2 |
| TTN | rs397517787 | likely pathogenic | RCV000040926.2 |
| TTN | rs397517830 | likely pathogenic | RCV000041089.2 |
| TTN | rs557312035 | likely pathogenic | RCV000156557.1 |
| TTN | rs72646831 | likely pathogenic | RCV000040391.2 |
| TTN | rs72646846 | likely pathogenic | RCV000040445.3 |
| TTN | rs727503537 | likely pathogenic | RCV000152167.1 |
| TTN | rs727503546 | likely pathogenic | RCV000152183.1 |
| TTN | rs727503547 | likely pathogenic | RCV000152184.1 |
| TTN | rs727503550 | likely pathogenic | RCV000152195.1 |
| TTN | rs727503552 | likely pathogenic | RCV000152198.1 |
| TTN | rs727503557 | likely pathogenic | RCV000152204.1 |
| TTN | rs727503559 | likely pathogenic | RCV000152206.1 |
| TTN | rs727503565 | likely pathogenic | RCV000152223.1 |
| TTN | rs727503567 | likely pathogenic | RCV000152227.1 |
| TTN | rs727503586 | likely pathogenic | RCV000152265.1 |
| TTN | rs727503598 | likely pathogenic | RCV000152296.1 |
| TTN | rs727503602 | likely pathogenic | RCV000152307.1 |
| TTN | rs727503607 | likely pathogenic | RCV000152318.1 |
| TTN | rs727503615 | likely pathogenic | RCV000152330.1 |
| TTN | rs727503636 | likely pathogenic | RCV000152375.1 |
| TTN | rs727503658 | likely pathogenic | RCV000152420.1 |
| TTN | rs727503697 | likely pathogenic | RCV000152508.1 |
| TTN | rs727504184 | likely pathogenic | RCV000177503.1 |
| TTN | rs727504198 | pathogenic | RCV000175258.1 |
| TTN | rs727504452 | likely pathogenic | RCV000155429.1 |
| TTN | rs727504466 | likely pathogenic | RCV000155591.1 |
| TTN | rs727504499 | likely pathogenic | RCV000155637.1 |
| TTN | rs727504531 | likely pathogenic | RCV000155681.1 |
| TTN | rs727504535 | likely pathogenic | RCV000155686.1 |
| TTN | rs727504550 | likely pathogenic | RCV000155712.1 |
| TTN | rs727504589 | likely pathogenic | RCV000155762.1 |
| TTN | rs727504646 | likely pathogenic | RCV000155909.1 |
| TTN | rs727504655 | likely pathogenic | RCV000155919.1 |
| TTN | rs727504660 | likely pathogenic | RCV000155924.1 |
| TTN | rs727504679 | likely pathogenic | RCV000155948.1 |
| TTN | rs727504782 | likely pathogenic | RCV000156100.1 |
| TTN | rs727504799 | likely pathogenic | RCV000156125.1 |
| TTN | rs727504825 | likely pathogenic | RCV000156164.1 |
| TTN | rs727504843 | likely pathogenic | RCV000156186.1 |
| TTN | rs727504851 | likely pathogenic | RCV000156200.1 |
| TTN | rs727504856 | likely pathogenic | RCV000156206.1 |
| TTN | rs727505014 | likely pathogenic | RCV000156437.1 |
| TTN | rs727505076 | likely pathogenic | RCV000156516.1 |
| TTN | rs727505224 | likely pathogenic | RCV000156722.1 |
| TTN | rs727505284 | likely pathogenic | RCV000156813.1 |
| TTN | rs727505288 | likely pathogenic | RCV000156817.1 |
| TTN | rs727505319 | likely pathogenic | RCV000156861.1 |
| TTN | rs727505352 | likely pathogenic | RCV000156911.1 |
| TTN | rs730880343 | likely pathogenic | RCV000154660.1 |
| TTN | rs730880365 | likely pathogenic | RCV000156488.1 |
| TTN | rs763822931 | likely pathogenic | RCV000176816.1 |
| TTN | rs771511344 | likely pathogenic | RCV000190634.1 |
| TTN | rs794727467 | likely pathogenic | RCV000176899.1 |
| TTN | rs794727468 | likely pathogenic | RCV000176901.1 |
| TTN | rs794727539 | likely pathogenic | RCV000177487.1 |
| TTN | rs797044683 | likely pathogenic | RCV000176244.1 |
| TTN | rs797044692 | likely pathogenic | RCV000176604.1 |
Additional Information:
| Molecular genetics OMIM |
In 2 unrelated families with autosomal dominant dilated cardiomyopathy, Gerull et al. (2002) identified 2 different heterozygous mutations in the titin gene (188840.0002; 188840.0003). Both families showed reduced penetrance and no involvement of noncardiac muscle. The latter was ... |