Mitochondrial disease with hypertrophic cardiomyopathy
General Information (adopted from Orphanet):
Synonyms, Signs: |
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Number of Symptoms | 0 |
OrphanetNr: | 217587 |
OMIM Id: |
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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: |
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Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: |
Rare familial disorder with hypertrophic cardiomyopathy
-Rare cardiac disease -Rare genetic disease |
Comment:
This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level. |
Symptom Information:
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
---|---|---|---|
FOXRED1 | rs267606829 | pathogenic | RCV000000015.3 |
FOXRED1 | rs267606830 | pathogenic | RCV000000016.3 |
FOXRED1 | rs387907087 | pathogenic | RCV000024042.2 |
FOXRED1 | rs797045091 | likely pathogenic | RCV000190588.1 |
MT-ND1 | rs199476118 | pathogenic | RCV000010371.2 |
MT-ND2 | rs199476116 | pathogenic | RCV000010367.2 |
MT-ND2 | rs267606888 | pathogenic | RCV000010368.4 |
MT-ND3 | rs199476117 | pathogenic | RCV000010361.2 |
MT-ND3 | rs267606890 | pathogenic | RCV000010358.2 |
MT-ND4 | rs28384199 | pathogenic | RCV000010357.4 |
MT-TN | rs199476132 | pathogenic | RCV000010247.2 |
NDUFA1 | rs104894884 | pathogenic | RCV000012414.16 |
NDUFA1 | rs104894885 | pathogenic | RCV000012415.16 |
NDUFA1 | rs1801316 | pathogenic | RCV000030653.22 |
NDUFAF1 | rs387906956 | pathogenic | RCV000023597.2 |
NDUFAF1 | rs387906957 | pathogenic | RCV000023598.3 |
NDUFAF1 | rs387906958 | pathogenic | RCV000023599.2 |
NDUFAF2 | rs137852863 | pathogenic | RCV000001661.2 |
NDUFAF3 | rs121918134 | pathogenic | RCV000000450.2 |
NDUFAF3 | rs121918135 | pathogenic | RCV000000451.2 |
NDUFAF3 | rs121918136 | pathogenic | RCV000000452.2 |
NDUFAF4 | rs63751061 | pathogenic | RCV000000826.2 |
NDUFAF5 | rs118203929 | pathogenic | RCV000000600.2 |
NDUFAF5 | rs267606689 | pathogenic | RCV000000601.2 |
NDUFB3 | rs200800978 | pathogenic | RCV000033057.2 |
NDUFS1 | rs149271416 | pathogenic | RCV000043636.25 |
NDUFS1 | rs199422224 | pathogenic | RCV000015299.26 |
NDUFS1 | rs199422225 | pathogenic | RCV000015300.25 |
NDUFS1 | rs199422226 | pathogenic | RCV000015301.25 |
NDUFS1 | rs372691318 | pathogenic | RCV000043635.22 |
NDUFS1 | rs387907199 | pathogenic | RCV000024604.26 |
NDUFS1 | rs397515383 | pathogenic | RCV000015298.25 |
NDUFS1 | rs397515447 | pathogenic | RCV000043634.26 |
NDUFS2 | rs121434427 | pathogenic | RCV000007101.2 |
NDUFS2 | rs121434428 | pathogenic | RCV000007102.2 |
NDUFS2 | rs121434429 | pathogenic | RCV000007103.2 |
NDUFS3 | rs104894270 | pathogenic | RCV000033058.3 |
NDUFS4 | rs104893899 | pathogenic | RCV000007293.2 |
NDUFS4 | rs121908985 | pathogenic | RCV000007291.2 |
NDUFS4 | rs587776949 | pathogenic | RCV000133549.2 |
NDUFS6 | rs267606913 | pathogenic | RCV000006389.3 |
NDUFS8 | rs111033588 | pathogenic | RCV000007944.4 |
NDUFS8 | rs121912638 | pathogenic | RCV000007942.3 |
NDUFS8 | rs121912639 | pathogenic | RCV000007943.3 |
NDUFS8 | rs146766138 | pathogenic | RCV000033054.2 |
NDUFS8 | rs28939679 | pathogenic | RCV000007941.3 |
NDUFS8 | rs397514617 | pathogenic | RCV000033055.3 |
NDUFS8 | rs397514618 | pathogenic | RCV000033056.4 |
NDUFV1 | rs121913659 | pathogenic | RCV000015100.22 |
NDUFV1 | rs121913660 | pathogenic | RCV000015102.25 |
NDUFV1 | rs121913661 | pathogenic | RCV000015103.25 |
NUBPL | rs118161496 | pathogenic | RCV000000017.3 |
NUBPL | rs201430951 | likely pathogenic | RCV000191115.1 |
NUBPL | rs397515440 | pathogenic | RCV000043477.4 |