Cardiomyopathy, familial hypertrophic, 11

General Information (adopted from Orphanet):

Synonyms, Signs: CMH11
Number of Symptoms 7
OrphanetNr:
OMIM Id: 612098
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Sporadic
Monogenic
10966831 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 11 is caused by mutation in ACTC1 (PMID:10966831).

Symptom Information: Sort by abundance 

1
(HPO:0001716) Wolff-Parkinson-White syndrome 10330430 IBIS 21 / 7739
2
(HPO:0001639) Hypertrophic cardiomyopathy 10966831 IBIS 137 / 7739
3
(HPO:0001712) Left ventricular hypertrophy 10966831 IBIS 76 / 7739
4
(HPO:0011675) Arrhythmia 16267253 IBIS 226 / 7739
5
(HPO:0001678) Atrioventricular block 16267253 IBIS 59 / 7739
6
(OMIM) Septal bulge of left ventricular outflow tract 10330430 IBIS 1 / 7739
7
(OMIM) Wolff-Parkinson-White arrhythmia 10330430 IBIS 2 / 7739

Associated genes:

ACTC1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Olson et al. (2000) studied 2 sporadic patients with apical hypertrophic cardiomyopathy (CMH) and a 4-generation family segregating autosomal dominant CMH. The 2 sporadic patients had early-onset nonobstructive CMH involving the interventricular septum and left ventricular apex; left ...
Molecular genetics OMIM In a large 3-generation family with hypertrophic cardiomyopathy, Mogensen et al. (1999) identified heterozygosity for a missense mutation in the ACTC1 gene (102540.0003). The 13 affected family members had diverse phenotypes with variable age of onset and low ...