Deafness, X-Linked 2 (DFNX2)

Alias:

Nance Deafness

Perilymphatic Gusher-Deafness Syndrome

Dfnx2

Dfn3

Sensorineural Deafness, Profound, with or Without a Conductive Component, Associated with a Unique Developmental Abnormality of the Ear

X-Linked Mixed Hearing Loss with Perilymphatic Gusher

X-Linked Mixed Conductive and Sensorineural Deafness

X-Linked Mixed Conductive and Neurosensory Deafness

Deafness 3, Conductive, with Stapes Fixation

Deafness, Conductive, with Stapes Fixation

Deafness, Mixed, with Perilymphatic Gusher

X-Linked Deafness 2

X-Linked Mixed Conductive and Sensorineural Hearing Loss

X-Linked Mixed Conductive and Neurosensory Hearing Loss

Deafness Mixed with Perilymph Gusher X-Linked

Conductive Deafness 3 with Stapes Fixation

Deafness 3 Conductive with Stapes Fixation

Conductive Deafness with Stapes Fixation

Mixed Deafness with Perilymphatic Gusher

Deafness Conductive with Stapes Fixation

Deafness Mixed with Perilymphatic Gusher

Progressive Hearing Loss Stapes Fixation

X-Linked Sensorineural Deafness

X-Linked Stapes Gusher Syndrome

Deafness, X-Linked, Type 2

X-Linked Deafness Type 2

Deafness, X-Linked, 2

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Deafness, X-Linked 2, also known as nance deafness, is related to deafness, x-linked 1 and nonsyndromic hearing loss. An important gene associated with Deafness, X-Linked 2 is POU3F4 (POU Class 3 Homeobox 4), and among its related pathways/superpathways are Pentose phosphate pathway and PRPP biosynthesis. Affiliated tissues include bone and brain, and related phenotypes are dilatated internal auditory canal and congenital sensorineural hearing impairment

Related ID：

MALACARDS：DFN036

OMIM：304400

MESH：D046089