OTOSCLEROSIS 10

General Information (adopted from Orphanet):

Synonyms, Signs: OTSC10
Number of Symptoms 2
OrphanetNr:
OMIM Id: 615589
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000362) Otosclerosis 10 / 7739
2
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Otosclerosis is a hearing disorder that is associated with disordered bone remodeling in the otic capsule. The bone remodeling can result in conductive, mixed, or sensorineural hearing loss as a result of stapes footplate fixation or cochlear involvement ...
Clinical Description OMIM Schrauwen et al. (2011) studied a large Dutch family segregating autosomal dominant otosclerosis over 3 generations. Immobility of the stapes observed during surgery confirmed the diagnosis in 4 patients; 3 individuals who did not undergo surgery were considered ...
Molecular genetics OMIM - Exclusion Studies

In a large 3-generation Dutch family with autosomal dominant otosclerosis mapping to chromosome 1q41-q44, Schrauwen et al. (2011) screened the 26.1-Mb region for copy number variants based on the SNP microarray, but did ...