Disease #01011 (DFNA20;DFNA26 (deafness, autosomal dominant, type 20/26 (DFNA-20;DFNA-26)), OMIM:604717)

Official abbreviation DFNA20;DFNA26
Name deafness, autosomal dominant, type 20/26 (DFNA-20;DFNA-26)
OMIM ID 604717
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal dominant
Individuals reported having this disease 14
Phenotype entries for this disease 5
Associated with 1 gene ACTG1
Associated tissues -
Disease features -
Remarks -


Individuals

14 entries on 1 page. Showing entries 1 - 14.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00204325 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204326 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204327 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204329 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204333 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204336 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204337 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204338 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00204339 - - - - - - - - 0 - - DFNA20;DFNA26 - ACTG1 ACTG1 1 1 SIB - Livia Famiglietti
00287170 - PubMed: Lee, 2018 - M no Korea - - 0 - - DFNA20;DFNA26 severe to profound bilateral deafness and cleft lip and palate ACTG1 ACTG1 1 2 Camille Cenni
00287173 IV1 PubMed: Wang, 2018 4 generation family with 10 affected individuals F no China - - 0 - - DFNA20;DFNA26 moderate hearing loss downward slope into higher frequencies with a gradual worsening over time affecting all frequencies ACTG1 ACTG1 1 10 Camille Cenni
00288259 S840:II.1 PubMed: Morín et al, 2009 - F no - - - 0 - - DFNA20;DFNA26 bilateral, symmetrical and progressive sensorineural hearing loss at mid- and high frequencies (a down-sloping audiometric profile) of post-lingual onset (third decade) ACTG1 ACTG1 1 2 Camille Cenni
00288260 S582:II.3 PubMed: Morín, 2009 - F no - - - 0 - - DFNA20;DFNA26 post-lingual, bilateral, symmetrical and progressive sensorineural hearing impairment that affect the mid- and high frequencies. hearing problems at school age. ACTG1 ACTG1 1 4 Camille Cenni
00289370 W99-060; IV:7 PubMed: van Wijk 2003 - M no Germany - - 0 - - DFNA20;DFNA26 Before they were 15 years old, the patients had already shown gently downsloping audiograms. By ages 15 to 20 and 25 to 40 years, hearing loss had become severe to profound at 8 kHz and 1 to 4 kHz, respectively. The thresholds at 0.25 to 0.5 kHz showed more gradual progression at an average increase of about 1.5 to 2 dB/y. ACTG1 ACTG1 1 19 Camille Cenni
Legend   How to query