autosomal dominant nonsyndromic deafness 20

Summary
Synonym
  • DFNA20
  • DFNA26
  • autosomal dominant deafness 20
Definition
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset with high frequency progressive hearing loss and has_material_basis_in mutation in the ACTG1 gene on chromosome 17q25.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0110550
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 6 entries
Gene ID Gene Symbol Description Source
58 ACTA1 actin alpha 1, skeletal muscle
59 ACTA2 actin alpha 2, smooth muscle
60 ACTB actin beta
70 ACTC1 actin alpha cardiac muscle 1
71 ACTG1 actin gamma 1
345651 ACTBL2 actin beta like 2
Displaying all 6 entries
Gene ID Gene Symbol Description Source
11459 Acta1 actin alpha 1, skeletal muscle
11461 Actb actin, beta
11464 Actc1 actin, alpha, cardiac muscle 1
11465 Actg1 actin, gamma, cytoplasmic 1
11475 Acta2 actin alpha 2, smooth muscle, aorta
238880 Actbl2 actin, beta-like 2
Displaying all 3 entries
Gene ID Gene Symbol Description Source
29275 Actc1 actin, alpha, cardiac muscle 1
29437 Acta1 actin, alpha 1, skeletal muscle
81822 Actb actin, beta
The Human Phenotype Ontology
Displaying all 4 entries
HPO ID HPO Term
HP:0000408 Progressive sensorineural hearing impairment
HP:0011462 Young adult onset
HP:0000006 Autosomal dominant inheritance
HP:0008619 Bilateral sensorineural hearing impairment
Displaying 1 entry
Gene ID Gene Symbol Description
71 ACTG1 actin gamma 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024