DEAFNESS, X-LINKED 4

General Information (adopted from Orphanet):

Synonyms, Signs: DEAFNESS, NONSYNDROMIC SENSORINEURAL PROGRESSIVE 6
DEAFNESS, X-LINKED 6, PROGRESSIVE
DFNX4
DFN6
Number of Symptoms 5
OrphanetNr:
OMIM Id: 300066
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked 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:0005101) High-frequency hearing impairment 16 / 7739
2
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
3
(OMIM) Hearing loss first affects high frequencies 1 / 7739
4
(HPO:0001423) X-linked dominant inheritance 69 / 7739
5
(HPO:0011463) Childhood onset 65 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) X-linked deafness-4 is a nonsyndromic form of progressive hearing loss with postlingual onset. Affected males show earlier onset of hearing loss than affected females (summary by del Castillo et al., 1996).
Clinical Description OMIM Del Castillo et al. (1996) reported a Spanish family affected by a previously undescribed X-linked form of hearing impairment. Deafness in this family was nonsyndromic, sensorineural, and progressive. In affected males, the auditory impairment was first detected at ...
Molecular genetics OMIM In 2 unrelated families with X-linked deafness-4, including the large Spanish family previously reported by del Castillo et al. (1996), Huebner et al. (2011) identified 2 different truncating mutations in the SMPX gene (300226.0001 and 300226.0002, respectively). Noting ...
Population genetics OMIM Abdelfatah et al. (2013) identified a truncating mutation in the SMPX gene (99delC; 300226.0005) in affected members of 2 large, multigenerational families from Newfoundland with DFNX4. Haplotype analysis indicated a founder effect.