OTOSCLEROSIS 1

General Information (adopted from Orphanet):

Synonyms, Signs: OTSC1
OTS
Number of Symptoms 3
OrphanetNr:
OMIM Id: 166800
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:0000405) Conductive hearing impairment 164 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Clinical otosclerosis, the single most common cause of hearing impairment, is characterized by isolated endochondral bone sclerosis of the labyrinthine capsule. Otosclerotic foci invade the stapediovestibular joint (oval window) and interfere with free motion of the stapes. Mean ...
Clinical Description OMIM Reports of familial conductive hearing loss can be traced back at least to Toynbee (1841). The term 'otosclerosis' was introduced by Politzer (1903), who defined it as a 'disease that has its seat in the labyrinthine capsule [and] ...
Molecular genetics OMIM - Associations Pending Confirmation

In a case-control study of 206 Caucasians with otosclerosis and 282 Caucasian controls, Chen et al. (2007) identified 2 haplotypes composed of 5 SNPs in the COL1A1 gene (see 120150.0051) that were ...

Population genetics OMIM Clinical otosclerosis has a prevalence of 0.2 to 1% among white adults (cited by Tomek et al., 1998). Otosclerosis is said to be rare in Japan (Shimizu, 1965).