Hearing loss - familial salivary gland insensitivity to aldosterone
General Information (adopted from Orphanet):
|
Synonyms, Signs:
|
Tungland-Bellman syndrome
|
|
Number of Symptoms
|
2
|
|
OrphanetNr:
|
3225
|
|
OMIM Id:
|
|
|
ICD-10:
|
|
|
UMLs:
|
|
|
MeSH:
|
|
|
MedDRA:
|
|
|
Snomed:
|
|
Prevalence, inheritance and age of onset:
|
Prevalence:
|
No data available.
|
|
Inheritance:
|
Autosomal recessive inheritance
|
|
Age of onset:
|
|
Disease classification (adopted from Orphanet):
|
Parent Diseases:
|
Syndromic genetic deafness
-Rare developmental defect during embryogenesis
-Rare genetic disease
-Rare otorhinolaryngologic disease
|
|
|
|
|
|
|
|
|
|
|
1
|
(HPO:0010286)
|
Abnormality of the salivary glands |
Very frequent [Orphanet]
|
|
|
|
7 / 7739
|
|
2
|
(HPO:0000407)
|
Sensorineural hearing impairment |
Very frequent [Orphanet]
|
|
|
|
524 / 7739
|
ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |