Sensorineural deafness with dilated cardiomyopathy
Synonyms: Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy · Sensorineural hearing loss with dilated cardiomyopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood
- Status
- active
Sensorineural deafness with dilated cardiomyopathy is an extremely rare autosomal dominant syndrome described in two families to date and characterized by moderate to severe sensorineural hearing loss manifesting during childhood, and associated with late-onset dilated cardiomyopathy that generally progresses to heart failure.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sensorineural deafness with dilated cardiomyopathy | Neurosensory deafness with dilated cardiomyopathy · Neurosensory hearing loss with dilated cardiomyopathy · Sensorineural hearing loss with dilated cardiomyopathy |
| fr | Surdité neurosensorielle avec cardiomyopathie dilatée | Surdité de perception avec cardiomyopathie dilatée |
| de | Sensorineurale Schwerhörigkeit mit dilatativer Kardiomyopathie | Innenohrschwerhörigkeit mit dilatativer Kardiomyopathie · Neurosensorischer Hörverlust mit dilatativer Kardiomyopathie |
| es | Sordera neurosensorial con miocardiopatía dilatada | Hipoacusia neurosensorial con miocardiopatía dilatada · Sordera neurosensorial con cardiomiopatía dilatada |
| it | Sordità neurosensoriale con cardiomiopatia dilatativa | Perdita dell'udito neurosensoriale con cardiomiopatia dilatativa |
| nl | Sensorineurale doofheid met gedilateerde cardiomyopathie | Neurosensorisch gehoorverlies met gedilateerde cardiomyopathie · Neurosensorische doofheid met gedilateerde cardiomyopathie · Sensorineuraal gehoorverlies met gedilateerde cardiomyopathie |
| pt | Surdez neurossensorial com miocardiopatia dilatada | |
| pl | Głuchota zmysłowo-nerwowa z kardiomiopatią rozstrzeniową | Głuchota nerwowo-zmysłowa z kardiomiopatią rozstrzeniową · Nerwowo-zmysłowa utrata słuchu z kardiomiopatią rozstrzeniową · Zmysłowo-nerwowa utrata słuchu z kardiomiopatią rozstrzeniową |
| cs | Senzorineurální hluchota s dilatační kardiomyopatií | Neurosenzorická hluchota s dilatační kardiomyopatií · Neurosenzorická ztráta sluchu s dilatační kardiomyopatií · Senzorineurální ztráta sluchu s dilatační kardiomyopatií |
| uk | Сенсоневральна глухота з дилатаційною кардіоміопатією | Нейросенсорна глухота при дилатаційній кардіоміопатії · Нейросенсорна втрата слуху при дилатаційній кардіоміопатії · Сенсоневральна приглухуватість при дилатаційній кардіоміопатії |
| zh | 感音神经性聋伴扩张型心肌病 | 感音神经性聋伴扩张型心肌病 |
| tr | Dilate kardiyomiyopatili sensörinöral sağırlık | Dilate kardiyomiyopati ile seyreden nörosensoriyel sağırlık · Dilate kardiyomiyopati ile seyreden nöro-duyusal işitme kaybı · Dilate kardiyomiyopati ile seyreden sensörinöral işitme kaybı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605362 | E | validated | |
| ICD-10 | I42.0 | NTBT | attributed | validated |
| ICD-11 | BC43.00 | NTBT | attributed | validated |
| MONDO | 0011541 | E | validated | |
| UMLS | C4510220 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:217619Syndrome associated with dilated cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EYA4 | Disease-causing germline mutation(s) in | Assessed | HGNC:3522 | ENSG00000112319 | 603550 | 6q23.2 | EYA transcriptional coactivator and phosphatase 4 | 15735644[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 10769282[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_10769282[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
5 annotations · validated 2017-04-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0001635 | Congestive heart failure | |
| HP:0001644 | Dilated cardiomyopathy | |
| HP:0000365 | Hearing impairment | |
| HP:0000403 | Recurrent otitis media | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 10769282[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/217622
- This record as JSON: /data/d/217622.json