DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT

General Information (adopted from Orphanet):

Synonyms, Signs: NEUROSENSORY NONSYNDROMIC RECESSIVE DEAFNESS 4
DILATED VESTIBULAR AQUEDUCT
DVA
NSRD4
DFNB4
Number of Symptoms 6
OrphanetNr:
OMIM Id: 600791
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
2
(HPO:0000376) Incomplete partition of the cochlea type II Rare [HPO:probinson] 5 / 7739
3
(HPO:0011387) Enlarged vestibular aqueduct 1 / 7739
4
(OMIM) Vestibular abnormalities (variable) 1 / 7739
5
(OMIM) Cochlear malformation defect (Mondini dysplasia) (less common) 1 / 7739
6
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DFNB4 with enlarged vestibular aqueduct is characterized by pre- or perilingual onset of sensorineural or mixed hearing loss, which may be fluctuating or progressive. The hearing loss is associated with temporal bone abnormalities, most commonly enlargement of the ...
Clinical Description OMIM Griffith et al. (1996) reported a family in which 2 brothers had sensorineural hearing loss and enlarged vestibular aqueduct with no other abnormalities. Their parents were unaffected. The authors suggested autosomal recessive or X-linked inheritance with variable expressivity ...
Genotype-Phenotype Correlations OMIM Scott et al. (2000) compared 3 common Pendred syndrome allele variants with 3 PDS mutations reported only in individuals with nonsyndromic hearing loss. The mutations associated with Pendred syndrome exhibited complete loss of pendrin (SLC26A4)-induced chloride and iodide ...
Molecular genetics OMIM - Mutations in the SLC26A4 Gene

In affected members of a large consanguineous family from southwest India with DFNB4 with EVA, Li et al. (1998) found linkage to chromosome 7q31 and demonstrated that affected individuals were ...

Population genetics OMIM Wang et al. (2007) identified a total of 40 SLC26A4 mutations, including 25 novel mutations, among 107 Chinese patients with EVA from 101 families. Overall, SLC26A4 mutations were identified in 97.9% of patients. The most common mutation was ...