Cardiomyopathy, dilated, 1nn

General Information (adopted from Orphanet):

Synonyms, Signs: CMD1NN
Number of Symptoms 2
OrphanetNr:
OMIM Id: 615916
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 6 cases - PMID: 24777450 [IBIS]
Inheritance: Autosomal dominant
Monogenic
- PMID: 24777450 [IBIS]
Age of onset: Childhood
- PMID: 24777450 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Familial isolated dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

CMD1NN is caused by mutation in RAF1 (PMID:24777450).

Symptom Information: Sort by abundance 

1
 (HPO:0004308) Ventricular arrhythmia rare [HPO:skoehler] 24777450 IBIS 46 / 7739
2
 (HPO:0001644) Dilated cardiomyopathy 24777450 IBIS 141 / 7739

Associated genes:

RAF1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
RAF1 rs587777586 pathogenic RCV000131334.2
RAF1 rs587777587 pathogenic RCV000131336.2
RAF1 rs587777588 pathogenic RCV000131337.2

Additional Information: