Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: Progressive sensorineural deafness-hypertrophic cardiomyopathy
Progressive neurosensory deafness-hypertrophic cardiomyopathy
DFNA22 deafness, autosomal dominant 22, with hypertrophic cardiomyopathy, included
Progressive neurosensory hearing loss-hypertrophic cardiomyopathy
Number of Symptoms 14
OrphanetNr: 228012
OMIM Id: 606346
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Monogenic
15060111 [IBIS]
Age of onset: All ages
15060111 [IBIS]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic cardiac rhythm disease
 -Rare cardiac disease
 -Rare genetic disease
Syndrome associated with hypertrophic cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Syndromic genetic deafness
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Comment:

Progressive sensorineural hearing loss - hypertrophic cardiomyopathy is caused by mutation in MYO6 (PMID:15060111, PMID:18212818).

Symptom Information: Sort by abundance 

1
 (HPO:0000407) Sensorineural hearing impairment 15060111 IBIS 524 / 7739
2
 (HPO:0100749) Chest pain 15060111 IBIS 92 / 7739
3
 (HPO:0001712) Left ventricular hypertrophy 15060111 IBIS 76 / 7739
4
 (HPO:0001639) Hypertrophic cardiomyopathy 15060111 IBIS 137 / 7739
5
 (HPO:0001279) Syncope 15060111 IBIS 94 / 7739
6
 (HPO:0011713) Left bundle branch block 15060111 IBIS 30 / 7739
7
 (HPO:0001657) Prolonged QT interval 15060111 IBIS 33 / 7739
8
 (HPO:0002094) Dyspnea 15060111 IBIS 132 / 7739
9
 (OMIM) Right axis deviation 15060111 IBIS 6 / 7739
10
 (MedDRA:10003761) Audiogram abnormal 15060111 IBIS 1 / 7739
11
 (OMIM) Audiogram shows sloping configuration 15060111 IBIS 2 / 7739
12
 (MedDRA:10036653) Presyncope 15060111 IBIS 4 / 7739
13
 (MedDRA:10057500) Left atrial hypertrophy 15060111 IBIS 1 / 7739
14
 (MedDRA:10050382) Electrocardiogram T wave biphasic 15060111 IBIS 1 / 7739

Associated genes:

MYO6;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
MYO6 rs121912557 pathogenic RCV000009108.2
MYO6 rs121912561 pathogenic RCV000009113.3
MYO6 rs397517045 likely pathogenic RCV000038290.2
MYO6 rs727505015 likely pathogenic RCV000156438.1

Additional Information:

Clinical Description OMIM Melchionda et al. (2001) studied a large Italian kindred in which many members were affected with autosomal dominant nonsyndromic sensorineural deafness. The deafness was progressive and postlingual, with onset during childhood (8 to 10 years of age at ...
Molecular genetics OMIM In a family with DFNA linked to chromosome 6q13, Melchionda et al. (2001) identified mutations in the MYO6 gene (600970.0001).

In affected members of a kindred in which autosomal dominant sensorineural deafness cosegregated with familial hypertrophic ...