OTOSCLEROSIS 7

General Information (adopted from Orphanet):

Synonyms, Signs: OTSC7
Number of Symptoms 4
OrphanetNr:
OMIM Id: 611572
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:0000365) Hearing impairment 539 / 7739
2
(HPO:0000362) Otosclerosis 10 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Hearing loss, unilateral or bilateral, conductive or mixed conductive/sensorineural 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Iliadou et al. (2006) examined 46 members of a large multigenerational Greek pedigree segregating autosomal dominant nonsyndromic, progressive hearing loss. The 24 affected individuals developed conductive hearing loss at about 10 years of age that soon became mixed; ...
Molecular genetics OMIM In a large Greek pedigree with otosclerosis mapping to 6q13, Thys et al. (2007) sequenced all 66 exons and the intron-exon boundaries of the candidate gene COL12A1 (120320), known to be expressed in the cochlea, but did not ...