Sinoatrial node dysfunction and deafness
Synonyms: Sinoatrial node dysfunction and hearing loss
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Sinoatrial node dysfunction and deafness is a rare genetic disease characterized by congenital severe to profound deafness with no evidence of vestibular dysfunction, associated with sinoatrial node dysfunction with pronounced bradycardia and increased variability of heart rate at rest and episodic syncopes that may be triggered by enhanced physical activity and stress.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Sinoatrial node dysfunction and deafness | Sinoatrial node dysfunction and hearing loss |
| fr | Dysfonction sinusale et surdité | |
| de | Sinusknoten-Dysfunktion und Schwerhörigkeit | SANDD-Syndrom |
| es | Disfunción del nodo sinusal y sordera | Disfunción del nodo sinusal e hipoacusia |
| it | Disfunzione del nodo senoatriale e sordità | |
| nl | Sinusknoopdisfunctie en doofheid | Sinusknoopdisfunctie en gehoorverlies |
| pt | Disfunção do nódulo sino-auricular e surdez | |
| pl | Dysfunkcja węzła zatokowo-przedsionkowego i głuchota | = en |
| cs | Dysfunkce sinoatriálního uzlu a hluchota | = en |
| uk | Дисфункція синоатріального вузла та глухота | Дисфункція синоатріального вузла та втрата слуху |
| zh | 窦房结功能障碍与耳聋 | 窦房结功能障碍与听力丧失 |
| tr | Sinoatriyal düğüm disfonksiyonu ve sağırlık | Sinoatriyal düğüm disfonksiyonu ve işitme kaybı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614896 | E | validated | |
| ICD-10 | H91.8 | NTBT | attributed | not yet validated |
| ICD-11 | BC80.2 | NTBT | attributed | validated |
| MONDO | 0013960 | E | validated | |
| UMLS | C3554018 | 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 (2):
- 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CACNA1D | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:1391 | ENSG00000157388 | 114206 | 3p21.1 | calcium voltage-gated channel subunit alpha1 D | 21131953[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 21131953[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/324321
- This record as JSON: /data/d/324321.json