Disease #00350

Official abbreviation DFNA
Name deafness, nonsyndromic (DFNA, autosomal dominant)
OMIM ID 124900
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 233
Phenotype entries for this disease 233
Associated with 7 genes CEACAM16, DIAPH1, GRHL2, MYO6, MYO7A, TECTA, TMC1
Associated tissues -
Disease features -
Remarks -


Individuals

233 entries on 3 pages. Showing entries 1 - 100.
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00016189 - PubMed: Zhang 2014 4-generation family, 11 affected (5F, 6M) F;M no China Chinese - 0 - - DFNA nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning TBC1D24 AIM2, BNC2, EFNA1, EHHADH, FNDC1, KCNN3, KRT33B, SUCO, TBC1D24, TTC39B 10 11 Tao Yang
00033915 - PubMed: Abe 2003 - - - Japan - - 0 - - DFNA no vestibular, visual, renal, or muscular involvement CRYM CRYM 1 1 Johan den Dunnen
00033916 - PubMed: Abe 2003 mother of 12471561-Fam1d - - Japan - - 0 - - DFNA no vestibular, visual, renal, or muscular involvement CRYM CRYM 1 1 Johan den Dunnen
00033917 - PubMed: Abe 2003 daugther of 12471561-Fam1m - - Japan - - 0 - - DFNA no vestibular, visual, renal, or muscular involvement CRYM CRYM 1 1 Johan den Dunnen
00033918 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness CRYM CRYM 1 90 Johan den Dunnen
00033919 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness CRYM CRYM 1 3 Johan den Dunnen
00033920 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness CRYM CRYM 1 84 Johan den Dunnen
00033921 - - - - - Japan - - 0 - - DFNA nonsyndromic deafness CRYM CRYM 1 94 Johan den Dunnen
00037767 - PubMed: Zeco 2015, Journal: Zeco 2015 3-generation family, 3 affecteds (grand mother, son, grandson) F;M no Spain - - 0 - - DFNA - KITLG KITLG 1 3 Helger Yntema
00037770 - PubMed: Zeco 2015, Journal: Zeco 2015 5-generation family, 13 affecteds (7F, 6M) F;M no Netherlands - - 0 - - DFNA see paper; ... KITLG KITLG 1 13 Helger Yntema
00043744 - PubMed: Yang 2007 - - - Taiwan - - 0 - - DFNA - GJB6 GJB6 1 1 Julia Lopez
00043836 - - DFNA9 M - Korea, South (Republic) Asian - 0 52 - DFNA DFNA9 COCH COCH, TPRN 2 1 Han Sang Kim
00043837 - - DFNA9 M - Korea, South (Republic) Asian - 0 48 - DFNA DFNA9 COCH COCH, TPRN 2 1 Han Sang Kim
00055302 - - - - - - - - 0 - - DFNA - GJB3 GJB3 1 1 Michel van Geel
00055303 - - - - - - - - 0 - - DFNA - GJB3 GJB3 1 1 Michel van Geel
00055307 - - 2-generation family, 2 affecteds - - China - - 0 - - DFNA - GJB3 GJB3 2 3 Michel van Geel
00055308 - - 2-generation family, 1 affected - - China - - 0 - - DFNA - GJB3 GJB3 2 2 Michel van Geel
00055315 - - 3-generation family, 2 affecteds, unaffected carrier father - - - - - 0 - - DFNA - GJB3 GJB3 2 3 Michel van Geel
00055322 - - - - - - - - 0 - - DFNA - GJB3 GJB3 1 1 Michel van Geel
00055323 - - - - - - - - 0 - - DFNA - GJB3 GJB3 1 1 Michel van Geel
00055347 - - - - - - - - 0 - - DFNA - GJB3 GJB3 1 1 Johan den Dunnen
00060255 - PubMed: Brownstein 2011, Journal: Brownstein 2011 3-generation family, 3 affecteds (2F, 3M) F;M no Israel Jewish (Ashkenazi) - 0 - - DFNA DFNA-6/14/38; congenital NSHL, low-tone, U-shaped audiogram - WFS1 1 5 Zippi Brownstein
00079876 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - - - - - 0 - - DFNA - - MYO6 1 1 Mieke Wesdorp
00088950 - PubMed: Neuhaus 2016 - M no Germany Caucasian - 0 - - DFNA - - DIAPH1 1 1 Hanno Bolz
00088953 - PubMed: Neuhaus 2016 - M no Germany Caucasian - 0 - - DFNA - - DIAPH1 1 1 Hanno Bolz
00132291 - Eisenberger, in press family, 8 affecteds M no Germany white - 0 - - DFNA autosomal dominant non-syndromic hearing loss PTPRQ PTPRQ 1 8 Hanno Bolz
00154479 19363479-Fam1 PubMed: Mencia 2009 5-generation family, 1 affecteds (20F, 17M) F;M no Spain - - 0 - - DFNA see paper; ... MIR96 MIR96 1 37 Johan den Dunnen
00154480 19363479-Fam2 PubMed: Mencia 2009 4-generation family, 4 affecteds (F, 3M) F;M no Spain - - 0 - - DFNA see paper; ..., progressive, high-frequency hearing loss MIR96 MIR96 1 4 Johan den Dunnen
00163025 26648831-Pat1 PubMed: Hofrichter 2015, Journal: Hofrichter 2015 Proband M - Germany - - 0 - - DFNA - CEACAM16 CEACAM16 1 1 Barbara Vona
00163058 - PubMed: Volk et al., 2013 proband M - Germany - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163059 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163060 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163061 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163062 - PubMed: Volk et al., 2013 relative F - Germany - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163063 - PubMed: Volk et al., 2013 relative M - Germany - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163064 - PubMed: Choi et al., 2013 proband M - Korea - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163065 - PubMed: Choi et al., 2013 proband F - Korea - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163066 - PubMed: Miyagawa et al., 2013 proband F - Japan - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163067 - PubMed: Kwon et al., 2014 proband F - Korea - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163070 - PubMed: Mohiddin et al., 2004 proband M - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation MYO6 MYO6 1 1 Anne-Françoise Roux
00163071 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation MYO6 MYO6 1 1 Anne-Françoise Roux
00163072 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation MYO6 MYO6 1 1 Anne-Françoise Roux
00163073 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163074 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA Abnormal ECG MYO6 MYO6 1 1 Anne-Françoise Roux
00163075 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA Abnormal ECG MYO6 MYO6 1 1 Anne-Françoise Roux
00163076 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA Cardiac hypertrophy and QT interval prolongation MYO6 MYO6 1 1 Anne-Françoise Roux
00163077 - PubMed: Mohiddin et al., 2004 relative M - - - - 0 - - DFNA Abnormal ECG MYO6 MYO6 1 1 Anne-Françoise Roux
00163078 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163079 - PubMed: Mohiddin et al., 2004 relative F - - - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163080 - PubMed: Shearer et al., 2010 proband - - - - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163081 - PubMed: Brownstein et al., 2014 proband - homozygous for semi-dominant mutation F - Palestine - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163082 - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163083 - PubMed: Brownstein et al., 2014 relative F - Palestine - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163084 - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163085 - PubMed: Brownstein et al., 2014 relative M - Palestine - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163086 - PubMed: Melchionda et al., 2001 proband M - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163087 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163088 - PubMed: Melchionda et al., 2001 relative M - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163089 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163090 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163091 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163092 - PubMed: Melchionda et al., 2001 relative M - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163093 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163094 - PubMed: Melchionda et al., 2001 relative F - Italy - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163095 - PubMed: Miyagawa et al., 2013 proband F - Japan - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163096 - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163097 - PubMed: Miyagawa et al., 2013 relative M - Japan - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163098 - PubMed: Hilgert et al., 2008 proband F - Belgium - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163099 - PubMed: Hilgert et al., 2008 relative F - Belgium - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163100 - PubMed: Kwon et al., 2014 proband M - Korea - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163101 - PubMed: Sanggaard et al., 2008 relative M - Denmark - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163102 - PubMed: Sanggaard et al., 2008 relative F - Denmark - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163103 - PubMed: Kwon et al., 2014 proband F - Korea - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163106 - PubMed: Cheng et al., 2014 proband F - China - - 0 - - DFNA Mild to moderate MYO6 MYO6 1 1 Anne-Françoise Roux
00163107 - PubMed: Cheng et al., 2014 relative M - China - - 0 - - DFNA Mild and COCH mutation MYO6 MYO6 1 1 Anne-Françoise Roux
00163108 - PubMed: Cheng et al., 2014 relative M - China - - 0 - - DFNA Moderate and COCH mutation MYO6 MYO6 1 1 Anne-Françoise Roux
00163109 - PubMed: Cheng et al., 2014 relative F - China - - 0 - - DFNA Moderate MYO6 MYO6 1 1 Anne-Françoise Roux
00163110 - PubMed: Yang et al., 2013 proband F - China - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163111 - PubMed: Yang et al., 2013 relative F - China - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163112 - PubMed: Yang et al., 2013 relative F - China - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163113 - PubMed: Yang et al., 2013 relative M - China - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163114 - PubMed: Yang et al., 2013 relative M - China - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163115 - PubMed: Kwon et al., 2014 proband F - Korea - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163121 - PubMed: Oonk et al., 2013 proband F - Netherlands - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163122 - PubMed: Oonk et al., 2013 relative F - Netherlands - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163123 - PubMed: Oonk et al., 2013 relative F - Netherlands - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163124 - PubMed: Oonk et al., 2013 relative M - Netherlands - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163125 - PubMed: Oonk et al., 2013 relative F - Netherlands - - 0 - - DFNA - MYO6 MYO6 1 1 Anne-Françoise Roux
00163189 - PubMed: Platinga et al., 2006 proband M - Netherlands - - 0 - - DFNA - TECTA TECTA 2 1 Anne-Françoise Roux
00163192 - PubMed: Hildebrand et al., 2011 proband F - United States - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163193 - PubMed: Hildebrand et al., 2011 proband F - Spain - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163196 - - - - - Korea Mongolian - 0 - - DFNA high frequency hearing loss TECTA TECTA 1 1 Byung Yoon Choi
00163197 - PubMed: Sagong et al., 2010 proband - - Korea - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163199 - PubMed: Hildebrand et al., 2011 proband - - United States - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163200 - PubMed: Hildebrand et al., 2011 proband - U-shaped deafness associated to an AD family pattern - No other mutation identified - An affected relative does not carry the mutation M - Spain - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163201 - PubMed: Hildebrand et al., 2011 proband M - Belgium - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163202 - PubMed: Hildebrand et al., 2011 proband - - United States - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163203 - PubMed: Hildebrand et al., 2011 proband - - United States - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
00163204 - PubMed: Hildebrand et al., 2011 proband M - United Kingdom (Great Britain) - - 0 - - DFNA - TECTA TECTA 2 1 Anne-Françoise Roux
00163207 - PubMed: Hildebrand et al., 2011 proband F - Spain - - 0 - - DFNA - TECTA TECTA 1 1 Anne-Françoise Roux
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