Mitochondrial disease with hypertrophic cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 0
OrphanetNr: 217587

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare familial disorder with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease


This term does not characterize a disease but a group of diseases. Annotations can be found at a more specific level.

Symptom Information: Sort by abundance 

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

Additional Information: