Deafness, X-Linked 2 (DFNX2)

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OMIM 57 304400 Orphanet 59 ORPHA383 ICD10 via Orphanet 34 H90.8 UMLS via Orphanet 74 C1844678

MedGen 42 C1844678 C2677850 MeSH 44 D046089 SNOMED-CT via HPO 69 44057004 UMLS 73 C1844678

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 383Disease definitionX-linked mixed deafness with perilymphatic gusher, also known as X-linked deafness type 2, is a rare form of non-syndromic genetic deafness affecting males and characterized by pathognomonic inner ear anomalies and conductive and profound sensorineural hearing loss. The inner ear anomalies are described as dilatation of the internal auditory meatus and fistulous connection between the cochlear basal turn and internal auditory canal resulting in perilympatic gusher on attempted mobilization of a fixed stapes. Obligate female carriers may suffer from mild to moderate hearing loss.Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness, X-Linked 2, also known as nance deafness, is related to sensorineural hearing loss and nonsyndromic deafness. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU Class 3 Homeobox 4), and among its related pathways/superpathways is Gap junction trafficking. Affiliated tissues include bone and skin, and related phenotypes are conductive hearing impairment and progressive sensorineural hearing impairment

OMIM : ⁵⁷ 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 internal auditory canal and the cochlear basal turn, resulting in a perilymphatic fluid 'gusher' during stapes surgery (summary by de Kok et al., 1995 and Song et al., 2010). See also choroideremia, deafness, and mental retardation (303110), a contiguous gene deletion syndrome involving the POU3F4 and CHM (300390) genes on Xq21; isolated choroideremia (303100) is caused by mutation in the CHM gene. (304400)

UniProtKB/Swiss-Prot : ⁷⁵ Deafness, X-linked, 2: A form of deafness characterized by both conductive hearing loss resulting from stapes (perilymphatic gusher) fixation, and progressive sensorineural deafness.

Clinical features from OMIM:

304400

Search Clinical Trials , NIH Clinical Center for Deafness, X-Linked 2

Search GEO for disease gene expression data for Deafness, X-Linked 2.