Familial restrictive cardiomyopathy

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 0
OrphanetNr: 217635
UMLs: C0340429
Snomed: 233878008

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Rare genetic cardiac disease
 -Rare genetic disease
Restrictive cardiomyopathy
 -Rare cardiac 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
MT-RNR1 rs267606617 pathogenic RCV000010256.5
MYH7 rs397516142 likely pathogenic RCV000157359.1
MYH7 rs397516153 pathogenic RCV000035799.3
MYH7 rs727503260 likely pathogenic RCV000151276.1
MYH7 rs730880154 likely pathogenic RCV000157347.1
MYPN rs140148105 pathogenic RCV000043546.2
MYPN rs199476408 pathogenic RCV000043547.2
MYPN rs71534278 pathogenic RCV000043541.2
MYPN rs71534280 pathogenic RCV000043543.2
MYPN rs71584501 pathogenic RCV000043540.2
TNNI3 rs104894724 pathogenic RCV000013239.22
TNNI3 rs104894728 pathogenic RCV000013236.22
TNNI3 rs104894729 pathogenic RCV000013237.22
TNNI3 rs104894730 pathogenic RCV000013238.23
TNNI3 rs121917760 pathogenic RCV000013241.22
TNNI3 rs121917761 pathogenic RCV000013242.16
TNNI3 rs727503504 likely pathogenic RCV000157530.1
TNNI3 rs730880231 pathogenic RCV000157531.1
TNNT2 rs121964855 pathogenic RCV000013219.23
TNNT2 rs727503513 likely pathogenic RCV000152104.1

Additional Information: