X-linked mixed deafness with perilymphatic gusher

General Information (adopted from Orphanet):

Synonyms, Signs: SENSORINEURAL DEAFNESS, PROFOUND, WITH OR WITHOUT A CONDUCTIVE COMPONENT, ASSOCIATED WITH A UNIQUE DEVELOPMENTAL ABNORMALITY OF THE EAR
PERILYMPHATIC GUSHER-DEAFNESS SYNDROME
DEAFNESS, MIXED, WITH PERILYMPHATIC GUSHER
DEAFNESS 3, CONDUCTIVE, WITH STAPES FIXATION
DEAFNESS, CONDUCTIVE, WITH STAPES FIXATION
DFN3
DFNX2
Conductive deafness with stapes fixation
X-linked mixed conductive and neurosensory deafness
X-linked mixed conductive and neurosensory hearing loss
X-linked deafness type 2
X-linked mixed conductive and sensorineural deafness
X-linked mixed conductive and sensorineural hearing loss
nance deafness
X-linked stapes gusher syndrome
Number of Symptoms 10
OrphanetNr: 383
OMIM Id: 304400
ICD-10: H90.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Prelingual nonsyndromic genetic deafness
 -Rare genetic disease
 -Rare otorhinolaryngologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000405) Conductive hearing impairment 164 / 7739
2
(HPO:0004458) Dilatated internal auditory canal 4 / 7739
3
(HPO:0000408) Progressive sensorineural hearing impairment 28 / 7739
4
(HPO:0000381) Stapes ankylosis 7 / 7739
5
(OMIM) Deficient or absent bone between the lateral end of the meatus and basal turn of the cochlea 2 / 7739
6
(OMIM) Wide bulbous internal auditory meatus 2 / 7739
7
(OMIM) Stapes fixation 6 / 7739
8
(HPO:0001419) X-linked recessive inheritance 189 / 7739
9
(OMIM) Abnormal communication between the subarachnoid space in the meatus and the perilymph 2 / 7739
10
(OMIM) Deafness, profound 4 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) DFNX2, also known as DFN3, is an X-linked recessive disorder characterized by progressive conductive and sensorineural hearing loss and a pathognomonic temporal bone deformity that includes dilatation of the inner auditory canal and a fistulous connection between the ...
Clinical Description OMIM Shine and Watson (1967) described a Hawaiian-Chinese family with 9 males in 2 generations affected with conductive hearing loss and vestibular disturbance. At operation, the footplate of the stapes was found to be fixed. When it was mobilized, ...
Molecular genetics OMIM De Kok et al. (1995) used the candidate gene approach to demonstrate that the defect in DFN3 resides in a transcription factor with a POU domain known as brain-4 (POU3F4; 300039). In 4 patients with X-linked mixed deafness, ...