Cardiomyopathy, familial hypertrophic, 16

General Information (adopted from Orphanet):

Synonyms, Signs: CMH16
Number of Symptoms 12
OrphanetNr:
OMIM Id: 613838
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
17347475 [IBIS]
Age of onset: Adult
17347475 [IBIS]

Disease classification (adopted from Orphanet):

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

Comment:

Cardiomyopathy, familial hypertrophic, 16 is caused by mutation MYOZ2 (PMID:17347475).

Symptom Information: Sort by abundance 

1
(HPO:0011713) Left bundle branch block 17347475 IBIS 30 / 7739
2
(HPO:0005110) Atrial fibrillation 17347475 IBIS 71 / 7739
3
(HPO:0001639) Hypertrophic cardiomyopathy 17347475 IBIS 137 / 7739
4
(HPO:0004756) Ventricular tachycardia 17347475 IBIS 55 / 7739
5
(HPO:0001712) Left ventricular hypertrophy 17347475 IBIS 76 / 7739
6
(HPO:0001670) Asymmetric septal hypertrophy 17347475 IBIS 19 / 7739
7
(HPO:0001962) Palpitations 17347475 IBIS 62 / 7739
8
(HPO:0001279) Syncope 17347475 IBIS 94 / 7739
9
(HPO:0002094) Dyspnea 17347475 IBIS 132 / 7739
10
(MedDRA:10052337) Diastolic dysfunction 17347475 IBIS 14 / 7739
11
(HPO:0012764) Orthopnea 17347475 IBIS 9 / 7739
12
(OMIM) Repolarization abnormalities 17347475 IBIS 2 / 7739

Associated genes:

MYOZ2;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Osio et al. (2007) studied a black family in which 6 individuals over 3 generations, including a pair of dizygotic twins, had hypertrophic cardiomyopathy. The index case presented at 12 years of age with symptoms of diastolic heart ...
Molecular genetics OMIM In 6 affected individuals from a 3-generation black family segregating autosomal dominant CMH mapping to chromosome 4q26-q27, Osio et al. (2007) identified heterozygosity for a missense mutation in the candidate gene MYOZ2 (605602.0001). The mutation was not found ...