Cardiomyopathy, familial hypertrophic, 3

General Information (adopted from Orphanet):

Synonyms, Signs: CMH3
Number of Symptoms 16
OrphanetNr:
OMIM Id: 115196
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 3 is caused by mutations in alpha tropomyosin gene TPM1 (PMID:11136687).

Symptom Information: Sort by abundance 

1
(HPO:0012249) Abnormal ST segment Frequent [IBIS] 57% (n=14) 11136687, 8327508, 8205619 IBIS 3 / 7739
2
(HPO:0001681) Angina pectoris 8327508, 8205619 IBIS 22 / 7739
3
(HPO:0001645) Sudden cardiac death Frequent [IBIS] 42% (n=26) 11136687, 8327508, 8205619 IBIS 84 / 7739
4
(HPO:0011713) Left bundle branch block 8327508, 8205619 IBIS 30 / 7739
5
(HPO:0000822) Hypertension 8327508, 8205619 IBIS 224 / 7739
6
(HPO:0001667) Right ventricular hypertrophy 8327508, 8205619 IBIS 23 / 7739
7
(HPO:0003115) Abnormal EKG Frequent [IBIS] 79% (n=14) 11136687, 8327508, 8205619 IBIS 44 / 7739
8
(HPO:0001639) Hypertrophic cardiomyopathy 11136687 IBIS 137 / 7739
9
(HPO:0001635) Congestive heart failure Occasional [IBIS] 8% (n=26) 11136687 IBIS 232 / 7739
10
(HPO:0005110) Atrial fibrillation 8327508, 8205619 IBIS 71 / 7739
11
(HPO:0011712) Right bundle branch block 8327508, 8205619 IBIS 34 / 7739
12
(HPO:0003116) Abnormal echocardiogram 11136687 IBIS 33 / 7739
13
(HPO:0001712) Left ventricular hypertrophy 11136687, 8205619 IBIS 76 / 7739
14
(HPO:0002094) Dyspnea 8327508, 8205619 IBIS 132 / 7739
15
(OMIM) Intraventricular conduction delay 8327508, 8205619 IBIS 7 / 7739
16
(MedDRA:10071436) Systolic dysfunction Frequent [IBIS] 19% (n=26) 11136687 IBIS 13 / 7739

Associated genes:

TPM1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Molecular genetics OMIM In affected members of 2 families with hypertrophic cardiomyopathy mapping to the CMH3 locus on chromosome 15q2, Thierfelder et al. (1994) screened the candidate gene TPM1 and identified heterozygosity for 2 missense mutations, E180G (191010.0001) and D175N (191010.0002), ...