DEAFNESS, AUTOSOMAL DOMINANT 1

General Information (adopted from Orphanet):

Synonyms, Signs: DEAFNESS, PROGRESSIVE LOW TONE
KONIGSMARK SYNDROME
HEREDITARY LOW FREQUENCY HEARING LOSS
LFHL1
DFNA1
Number of Symptoms 5
OrphanetNr:
OMIM Id: 124900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
2
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
3
(HPO:0008542) Low-frequency hearing loss 2 / 7739
4
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
5
(HPO:0001730) Progressive hearing impairment 29 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Konigsmark et al. (1971) studied 3 families with low frequency hearing loss in an autosomal dominant pedigree pattern.

In a large Costa Rican family, Leon et al. (1981) described many cases of low frequency autosomal dominant ...

Molecular genetics OMIM The form of autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive hearing loss in the large Costa Rican kindred studied by Leon et al. (1981, 1992) was designated DFNA1. Lynch et al. (1997) mapped the DFNA1 gene in this ...