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Autosomal Dominant 1 Deafness
Also Known As:
Deafness, Autosomal Dominant 1; Deafness, Progressive Low Tone; Hereditary Low Frequency Hearing Loss; Konigsmark Syndrome
Networked:
1
relevant articles (
0
outcomes,
0
trials/studies)
Disease Context: Research Results
Otorhinolaryngologic Diseases: 203
Ear Diseases: 261
Hearing Disorders: 325
Hearing Loss: 12265
Sensorineural Hearing Loss: 3974
Autosomal Dominant 1 Deafness: 1
Nervous System Diseases: 14178
Neurologic Manifestations: 7102
Sensation Disorders: 117
Hearing Disorders: 325
Hearing Loss: 12265
Sensorineural Hearing Loss: 3974
Autosomal Dominant 1 Deafness: 1
Signs and Symptoms Pathological Conditions
Signs and Symptoms
Neurologic Manifestations: 7102
Sensation Disorders: 117
Hearing Disorders: 325
Hearing Loss: 12265
Sensorineural Hearing Loss: 3974
Autosomal Dominant 1 Deafness: 1
Related Diseases
1.
Thrombocytopenia (Thrombopenia)
Therapies and Procedures
1.
Otoscopes
01/01/2023 - "
Using this method, we identified a known heterozygous nonsense variant in exon 26 of the DIAPH1 gene (MIM: 602121), which led to "Deafness, autosomal dominant 1, with or without thrombocytopenia; DFNA1" (MIM: 124900) in this large family in the absence of GJB2 disease-causing variants and also OtoSCOPE-negative results.
"