ORPHA:3225
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
historical
Synonyms: Tungland-Bellman syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare endocrine disease characterized by bilateral moderate-to-severe sensorineural hearing loss and salivary gland insensitivity to aldosterone resulting in hyponatremia. There have been no further descriptions in the literature since 1990.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hearing loss-familial salivary gland insensitivity to aldosterone syndrome | Tungland-Bellman syndrome |
| fr | Syndrome de surdité-insensibilité familiale des glandes salivaires à l'aldostérone | Syndrome de Tungland-Bellman |
| de | Syndromaler Hörverlust mit familiärer Aldosteron-Insensibilität der Speicheldrüsen | Tungland-Bellman-Syndrom |
| es | Síndrome de hipoacusia-insensibilidad a la aldosterona de la glándula salivar, familiar | Síndrome de Tunglang-Bellman |
| it | Sordità - insensibilità familiare delle ghiandole salivari all'aldosterone | Sindrome di Tunglang-Bellman |
| nl | Gehoorverlies - familiale insensitiviteit van speekselklier voor aldosteron-syndroom | Gehoorverlies - familiale ongevoeligheid van speekselklier voor aldosteron-syndroom · Syndroom van Tungland-Bellman |
| pt | Síndrome de perda auditiva-insensibilidade da glândula salivar à aldosterona familiar | Síndrome Tungland-Bellman |
| pl | Utrata słuchu - rodzinna niewrażliwość ślinianek na aldosteron | Zespół Tunglanda i Bellmana |
| cs | Syndrom zahrnující ztrátu sluchu a familiární necitlivost slinných žláz k aldosteronu | Tunglandův-Bellmanův syndrom · Tungland-Bellmanův syndrom |
| uk | Синдром втрати слуху-сімейна нечутливості слинних залоз до альдостерону | Синдром Тунгланда-Беллмана |
| zh | 听觉丧失-家族性唾液腺醛固酮抵抗综合征 | Tungland-Bellman综合征 |
| tr | İşitme kaybı-ailesel tükürük bezi aldosteron sendromuna duyarsızlık | Tungland-Bellman sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD2H.Y | NTBT | index | validated |
| MONDO | 0017921 | E | validated | |
| UMLS | C4274756 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 2280149[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 2280149[PMID]_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.
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HPO phenotypes
3 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010286 | Abnormal salivary gland morphology | |
| HP:0002902 | Hyponatremia | |
| HP:0000407 | Sensorineural hearing impairment | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3225
- This record as JSON: /data/d/3225.json