Deafness Autosomal Dominant
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The webpage at https://www.ncbi.nlm.nih.gov/gtr/conditions/C1832476/ might be temporarily down or it may have moved permanently to a new web address.
The webpage at https://www.ncbi.nlm.nih.gov/gtr/conditions/C1832476/ might be temporarily down or it may have moved permanently to a new web address.
https://www.ncbi.nlm.nih.gov/medgen/390742
Перевести · A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. …
https://www.ncbi.nlm.nih.gov/gtr/conditions/C1852282
Перевести · DFNA1 is an autosomal dominant form of progressive hearing loss with onset in the first decade. Some patients have mild thrombocytopenia and enlarged platelets, …
https://www.ncbi.nlm.nih.gov/gtr/conditions/C1832476
Перевести · A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. …
Pedigrees, Patterns of Genetic Inheritance, Autosomal Dominant Recessive X-Linked Mitocondrial
Keratitis-ichthyosis-deafness syndrome - Medical Definition and Pronunciation
Pedigree Analysis 1: How to solve a genetic pedigree No. 1
https://www.ncbi.nlm.nih.gov/gtr/conditions/C1847626
Перевести · C R O G Deafness, autosomal dominant nonsyndromic sensorineural 17 C R O G Deafness, autosomal dominant nonsyndromic sensorineural 53 C R O G …
https://rarediseases.info.nih.gov/diseases/9726/deafness-autosomal-dominant...
Перевести · 01.02.2021 · It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. PubMed is a searchable database of medical literature and lists journal articles that discuss Deafness, autosomal dominant …
https://rarediseases.info.nih.gov/diseases/1708/deafness-autosomal-dominant...
Перевести · PubMed is a searchable database of medical literature and lists journal articles that discuss Deafness, autosomal dominant nonsyndromic sensorineural 23. Click on the …
https://rarediseases.info.nih.gov/diseases/9167/deafness-autosomal-dominant...
Перевести · PubMed is a searchable database of medical literature and lists journal articles that discuss Deafness, autosomal dominant nonsyndromic sensorineural 22. Click on the …
https://pharos.nih.gov/diseases/autosomal dominant nonsyndromic deafness
Перевести · Pharos is the web interface for data collected by the Illuminating the Druggable Genome initiative. Target, disease and ligand information are collected and …
https://en.m.wikipedia.org/wiki/Nonsyndromic_deafness,_autosomal_dominant
Other names: Non-syndromic genetic deafness
Treatment: vancomycin
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness.
• DFNA: nonsyndromic deafness, autosomal dominant
• DFNB: nonsyndromic deafness, autosomal r…
Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness.
• DFNA: nonsyndromic deafness, autosomal dominant
• DFNB: nonsyndromic deafness, autosomal recessive
• DFNX: nonsyndromic deafness, X-linked
• nonsyndromic deafness, mitochondrial
Each type is numbered in the order in which it was described. For example, DFNA1 was the first described autosomal dominant type of nonsyndromic deafness. Mitochondrial nonsyndromic deafness involves changes to the small amount of DNA found in mitochondria, the energy-producing centers within cells.
Most forms of nonsyndromic deafness are associated with permanent hearing loss caused by damage to structures in the inner ear. The inner ear consists of three parts: a snail-shaped structure called the cochlea that helps process sound, nerves that send information from the cochlea to the brain, and structures involved with balance. Loss of hearing caused by changes in the inner ear is called sensorineural deafness. Hearing loss that results from changes in the middle ear is called conductive hearing loss. The middle ear contains three tiny bones that help transfer sound from the eardrum to the inner ear. Some forms of nonsyndromic deafness involve changes in both the inner ear and the middle ear; this combination is called mixed hearing loss.
The severity of hearing loss varies and can change over time. It can affect one ear (unilateral) or both ears (bilateral). Degrees of hearing loss range from mild (difficulty understanding soft speech) to profound (inability to hear even very loud noises). The loss may be stable, or it may progress as a person gets older. Particular types of nonsyndromic deafness often show distinctive patterns of hearing loss. For example, the loss may be more pronounced at high, middle, or low tones.
Nonsyndromic deafness can occur at any age. Hearing loss that is present before a child learns to speak is classified as prelingual or congenital. Hearing loss that occurs after the development of speech is classified as postlingual.
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Deafness, autosomal dominant 2b (Concept Id: C2675236)
Deafness, autosomal dominant 1 - Conditions - GTR - NCBI
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Deafness, autosomal dominant nonsyndromic sensorineural 17 ...
Deafness, autosomal dominant nonsyndromic sensorineural 23 ...
Deafness, autosomal dominant nonsyndromic sensorineural 22 ...
Pharos: autosomal dominant nonsyndromic deafness (63 ...
Nonsyndromic deafness - Wikipedia
Deafness Autosomal Dominant
