AURAL ATRESIA, CONGENITAL

General Information (adopted from Orphanet):

Synonyms, Signs: CAA
Number of Symptoms 4
OrphanetNr:
OMIM Id: 607842
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:0004409) Hyposmia 16 / 7739
2
(HPO:0000405) Conductive hearing impairment 164 / 7739
3
(HPO:0000413) Atresia of the external auditory canal 22152683 IBIS 32 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Altmann (1955) was the first to describe a congenital aural atresia (CAA) classification, which has been modified over the years (Cremers et al., 1988; Schuknecht, 1989; Jahrsdoerfer et al., 1992). In CAA type I, there is bony or ...
Molecular genetics OMIM Feenstra et al. (2011) performed SNP-array analysis in affected individuals with syndromic congenital aural atresia from 2 families with 18q22.3-q23 microdeletions and found a 459-kb deletion overlap, a region containing a single known gene, TSHZ1 (614427). Sequencing TSHZ1 ...
Population genetics OMIM Congenital aural atresia is a rare anomaly, occurring in approximately 1 in 10,000 live births (Melnick et al., 1979).