ORPHA:228012
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Synonyms: Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome · Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome · Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- All ages
- Status
- active
A rare disorder characterized by progressive, late onset, autosomal dominant sensorineural hearing loss, QT interval prolongation, and mild cardiac hypertrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome | Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome · Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome · Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome |
| fr | Syndrome de surdité neurosensorielle progressive-cardiomyopathie hypertrophique | Syndrome de surdité de perception progressive-cardiomyopathie hypertrophique |
| de | Progressiver sensorineuraler Hörverlust-hypertrophe Kardiomyopathie-Syndrom | Syndrom der progressiven neurosensorischen Schwerhörigkeit mit hypertropher Kardiomyopathie |
| es | Síndrome de hipoacusia neurosensorial progresiva-miocardiopatía hipertrófica | Síndrome de hipoacusia neurosensorial progresiva-cardiomiopatía hipertrófica · Síndrome de sordera neurosensorial progresiva-cardiomiopatía hipertrófica |
| it | Sordità neurosensoriale progressiva - cardiomiopatia ipertrofica | Perdita dell'udito neurosensoriale progressiva - cardiomiopatia ipertrofica · Sordità sensorineurale progressiva - cardiomiopatia ipertrofica |
| nl | Progressief sensorineuraal gehoorverlies - hypertrofische cardiomyopathie-syndroom | Progressief neurosensorisch gehoorverlies - hypertrofische cardiomyopathie-syndroom · Progressieve neurosensorische doofheid - hypertrofische cardiomyopathie-syndroom · Progressieve sensorineurale doofheid - hypertrofische cardiomyopathie-syndroom |
| pt | Síndrome de perda auditiva neurossensorial progressiva-miocardiopatia hipertrófica | Surdez neurosensorial progressiva-miocardiopatia hipertrófica |
| pl | Postępująca zmysłowo-nerwowa utrata słuchu - kardiomiopatia przerostowa | Postępująca głuchota nerwowo-zmysłowa - kardiomiopatia przerostowa · Postępująca głuchota zmysłowo-nerwowa - kardiomiopatia przerostowa · Postępująca nerwowo-zmysłowa utrata słuchu - kardiomiopatia przerostowa |
| cs | Syndrom zahrnující progresivní sensoneurální ztrátu sluchu a hypertrofickou kardiomyopatii | Syndrom zahrnující progresivní neurosenzorickou hluchotu a hypertrofickou kardiomyopatii · Syndrom zahrnující progresivní neurosenzorickou ztrátu sluchu a hypertrofickou kardiomyopatii · Syndrom zahrnující progresivní sensoneurální hluchotu a hypertrofickou kardiomyopatii |
| uk | Синдром прогресуючої сенсоневральної приглухуватості-гіпертрофічної кардіоміопатії | Синдром прогресуючої нейросенсорної глухоти-гіпертрофічної кардіоміопатії · Синдром прогресуючої нейросенсорної приглухуватості-гіпертрофічної кардіоміопатії · Синдром прогресуючої сенсоневральної глухоти-гіпертрофічної кардіоміопатії |
| zh | 进行性感音神经性听觉丧失-肥厚型心肌病综合征 | 进行性感音神经性听觉丧失-肥厚型心肌病综合征 |
| tr | İlerleyici sensörinöral işitme kaybı-hipertrofik kardiyomiyopati sendromu | İlerleyici nörosensöriyel sağırlık-hipertrofik kardiyomiyopati sendromu · İlerleyici sensörinöral sağırlık-hipertrofik kardiyomiyopati sendromu · İlerleyici nörosensöriyel işitme kaybı-hipertrofik kardiyomiyopati sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606346 | NTBT | validated | |
| ICD-10 | H90.3 | NTBT | attributed | validated |
| ICD-11 | AB51.1 | NTBT | attributed | validated |
| MONDO | 0016424 | E | validated | |
| UMLS | C4304831 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:101934Genetic cardiac rhythm disease
rare cardiac diseases; rare genetic diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MYO6 | Disease-causing germline mutation(s) in | Assessed | HGNC:7605 | ENSG00000196586 | 600970 | 6q14.1 | myosin VI | 15060111[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 families | Worldwide | Family(ies) | Validated | 18212818[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18212818[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228012
- This record as JSON: /data/d/228012.json