CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 26

General Information (adopted from Orphanet):

Synonyms, Signs: CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 5, INCLUDED
RCM5, INCLUDED
CMH26
Number of Symptoms 12
OrphanetNr:
OMIM Id: 617047
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
25351925, 26666891 [IBIS]
Age of onset: Adult
25351925, 26666891 [IBIS]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (OMIM) Myocyte disarray on cardiac biopsy 26666891 IBIS 6 / 7739
2
 (HPO:0011535) Abnormal atrial arrangement 26666891 IBIS 2 / 7739
3
 (HPO:0002092) Pulmonary hypertension 26666891 IBIS 109 / 7739
4
 (MedDRA:10052337) Diastolic dysfunction 26666891 IBIS 14 / 7739
5
 (HPO:0001645) Sudden cardiac death 25351925 IBIS 84 / 7739
6
 (HPO:0001635) Congestive heart failure 25351925 IBIS 232 / 7739
7
 (HPO:0011103) Abnormality of the left ventricular outflow tract 25351925 IBIS 12 / 7739
8
 (HPO:0001685) Myocardial fibrosis 25351925 IBIS 30 / 7739
9
 (HPO:0005110) Atrial fibrillation 25351925 IBIS 71 / 7739
10
 (HPO:0001712) Left ventricular hypertrophy 25351925 IBIS 76 / 7739
11
 (HPO:0001723) Restrictive cardiomyopathy 26666891 IBIS 22 / 7739
12
 (HPO:0001639) Hypertrophic cardiomyopathy 25351925 IBIS 137 / 7739

Associated genes:

FLNC;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: