Gene | Role | Disease | OMIM | Descriptions | Sources |
---|---|---|---|---|---|
DFNB31 | causing | USH2D | 611383 | The disease is caused by mutations affecting the gene represented in this entry. USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa and sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses. [read more] | |
DFNB59 | causing | DFNB59 | 610220 | The disease is caused by mutations affecting the gene represented in this entry. A form of sensorineural hearing impairment with absent or severely abnormal auditory brainstem response but normal otoacoustic emissions (auditory neuropathy or auditory dys-synchrony). Auditory neuropathies result from a lesion in the area including the inner hair cells, connections between the inner hair cells and the cochlear branch of the auditory nerve, the auditory nerve itself and auditory pathways of the brainstem. [read more] |
16804542 22617256 |
DIABLO | causing | DFNA64 | 614152 | The disease is caused by mutations affecting the gene represented in this entry. A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [read more] |
21722859 |
DIAPH1 | causing | DFNA1 | 124900 | The disease is caused by mutations affecting the gene represented in this entry. A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. [read more] | |
DLX5 | causing | SHFM1D | 220600 | The disease is caused by mutations affecting the gene represented in this entry. A disease characterized by the association of split-hand/foot malformation with deafness. Split-hand/foot malformation is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Some patients have been found to have mental retardation, ectodermal and craniofacial findings, and orofacial clefting. [read more] |
22121204 |
DNMT1 | causing | ADCADN | 604121 | The disease is caused by mutations affecting the gene represented in this entry. An autosomal dominant neurologic disorder characterized by adult onset of progressive cerebellar ataxia, narcolepsy, cataplexy, sensorineural deafness, and dementia. More variable features include optic atrophy, sensory neuropathy, psychosis, and depression. [read more] |
22328086 |
DSPP | causing | DFNA39/DGI1 | 605594 | The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by the association of progressive sensorineural high-frequency hearing loss with dentinogenesis imperfecta. [read more] |
11175790 |
EDN3 | causing | WS4B | 613265 | The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). [read more] |
8630503 11303518 12189494 |
EDNRB | causing | ABCDS | 600501 | The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive syndrome characterized by albinism, black lock at temporal occipital region, bilateral deafness, aganglionosis of the large intestine and total absence of neurocytes and nerve fibers in the small intestine. [read more] | |
EDNRB | causing | WS4A | 277580 | The disease is caused by mutations affecting the gene represented in this entry. A disorder characterized by the association of Waardenburg features (depigmentation and deafness) with the absence of enteric ganglia in the distal part of the intestine (Hirschsprung disease). [read more] |
8634719 12189494 |