Disease #05458 (DFN (deafness, nonsyndromic (DFN)))

Official abbreviation	DFN
Name	deafness, nonsyndromic (DFN)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	49
Phenotype entries for this disease	44
Associated with 14 genes	CDC14A, CDH23, CEACAM16, FAM65B, MYO15A, MYO6, MYO7A, OTOF, OTOG, PCDH15, PDZD7, TECTA, TMC1, USH1C
Associated tissues	-
Disease features	-
Remarks	-
Date created	2018-07-12 10:48:26 +02:00 (CEST)
Date last edited	N/A

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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49 entries on 1 page. Showing entries 1 - 49.

Legend

How to query

Individual 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
00167139	-	PubMed: Besnard, Garcia-Garcia 2014	Proband	M	-	Spain	-	-	-	-	-	DFN	-	-	PCDH15, USH2A	2	1	Anne-Françoise Roux
00167140	-	PubMed: Besnard, Garcia-Garcia 2014	Proband	F	-	-	-	-	-	-	-	DFN	-	-	GPR98, PCDH15	4	1	Anne-Françoise Roux
00167141	-	PubMed: Besnard, Garcia-Garcia 2014	Proband	M	-	-	-	-	-	-	-	DFN	-	-	TMC1	2	1	Anne-Françoise Roux
00167142	-	PubMed: Besnard, Garcia-Garcia 2014	-	F	-	-	-	-	-	-	-	DFN	-	-	USH1C, USH2A	3	1	Anne-Françoise Roux
00167143	-	PubMed: Besnard, Garcia-Garcia 2014	Proband	M	-	-	-	-	-	-	-	DFN	-	-	CDH23	1	1	Anne-Françoise Roux
00167144	-	PubMed: Besnard, Garcia-Garcia 2014	Proband	F	-	France	-	-	-	-	-	DFN	-	-	CDH23	1	1	Anne-Françoise Roux
00167157	-	PubMed: Yang 2013	Proband - no ophtalmologic details	-	-	China	-	-	-	-	-	DFN	-	-	GPR98	2	1	Anne-Françoise Roux
00167158	-	PubMed: Yang 2013	Proband - no ophtalmologic details	-	-	China	-	-	-	-	-	DFN	-	-	GPR98	2	1	Anne-Françoise Roux
00167159	-	PubMed: Yang 2013	Proband - no ophtalmological details	-	-	China	-	-	-	-	-	DFN	-	-	GPR98	2	1	Anne-Françoise Roux
00167281	-	PubMed: Mutai 2013	Proband	F	-	Japan	-	-	-	-	-	DFN	-	-	CDH23, PCDH15	2	1	Anne-Françoise Roux
00167282	-	PubMed: Mutai 2013	Relative	F	-	Japan	-	-	-	-	-	DFN	-	-	CDH23, PCDH15	2	1	Anne-Françoise Roux
00167283	-	PubMed: Mutai 2013	Relative	F	-	Japan	-	-	-	-	-	DFN	-	-	CDH23, PCDH15	2	1	Anne-Françoise Roux
00167610	-	PubMed: A.Pera 2008	Proband	F	-	Spain	-	-	-	-	-	DFN	Sever SNHL, No inner ear malformation, No thyroid abnormalities, Age 2 years old	-	SLC26A4	1	1	Anne-Françoise Roux
00167611	-	PubMed: A.Pera 2008	Proband	F	-	Spain	-	-	-	-	-	DFN	Moderate SNHL, No inner ear malformation, No thyroid abnormalities, Age 5 years old	-	SLC26A4	1	1	Anne-Françoise Roux
00167612	-	PubMed: A.Pera 2008	Proband	F	-	Spain	-	-	-	-	-	DFN	Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 5 years old	-	SLC26A4	3	1	Anne-Françoise Roux
00167613	-	PubMed: A.Pera 2008	Proband	F	-	Spain	-	-	-	-	-	DFN	Moderate SNHL, No inner ear malformations, No thyroid anbormalities, Age 7 years old	-	SLC26A4	1	1	Anne-Françoise Roux
00167614	-	PubMed: A.Pera 2008	Proband	M	-	Spain	-	-	-	-	-	DFN	Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 14 years old	-	SLC26A4	1	1	Anne-Françoise Roux
00167626	-	PubMed: A.Pera 2008	Proband	M	-	Spain	-	-	-	-	-	DFN	Profound SNHL, No inner ear malformations, No thyroid abnormalities, Age 1 year old	-	SLC26A4	1	1	Anne-Françoise Roux
00167707	-	PubMed: Mizutari 2015	proband	M	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	1	1	Hideki Mutai
00167708	-	PubMed: Mizutari 2015	Proband	M	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	2	1	Hideki Mutai
00167709	-	PubMed: Mizutari 2015	Proband	F	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	1	1	Hideki Mutai
00167710	-	PubMed: Mizutari 2015	Proband	M	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	1	1	Hideki Mutai
00167711	-	PubMed: Mizutari 2015	Proband	F	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	2	1	Hideki Mutai
00167712	-	PubMed: Mizutari 2015	Proband	M	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	2	1	Hideki Mutai
00167713	-	PubMed: Mizutari 2015	Proband	M	-	Japan	Asia	-	-	-	-	DFN	-	-	CDH23	1	1	Hideki Mutai
00167714	-	PubMed: Mizutari 2015	Proband	M	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	1	1	Hideki Mutai
00167715	-	PubMed: Mizutari 2015	Proband	M	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	1	1	Hideki Mutai
00167716	-	PubMed: Mizutari 2015	Proband	F	-	Japan	Asian-Japanese	-	-	-	-	DFN	-	-	CDH23	1	1	Hideki Mutai
00167762	-	de Moraes 2016	The patient also carries a monoallelic GJB2:c.35delG	-	-	Brazil	-	-	-	-	-	DFN	no EVA	-	SLC26A4	1	1	Silvia Dossena
00168024	S1338	PubMed: Baux 2017	Proband	M	-	France	-	-	-	-	-	DFN	-	-	GPR98	1	1	Anne-Françoise Roux
00168025	S1601	PubMed: Baux 2017	Proband	F	-	France	-	-	-	-	-	DFN	-	-	GPR98	2	1	Anne-Françoise Roux
00168730	?	PubMed: Besnard, Garcia-Garcia 2014	Proband	F	-	-	-	-	-	-	-	DFN	-	-	MYO7A	3	1	Anne-Françoise Roux
00168731	?	PubMed: Besnard, Garcia-Garcia 2014	Proband	M	-	-	-	-	-	-	-	DFN	-	-	MYO7A	1	1	Anne-Françoise Roux
00170274	-	PubMed: Yang 2013	Proband - age < 6 yrs	-	-	China	-	-	-	-	-	DFN	-	-	USH2A	2	1	Anne-Françoise Roux
00170275	-	PubMed: Yang 2013	Proband - age < 6 yrs	-	-	China	-	-	-	-	-	DFN	-	-	USH2A	2	1	Anne-Françoise Roux
00170276	-	PubMed: Yang 2013	Proband - age < 6 yrs	-	-	China	-	-	-	-	-	DFN	-	-	USH2A	2	1	Anne-Françoise Roux
00170335	-	PubMed: Mutai 2013	Proband	F	-	Japan	-	-	-	-	-	DFN	-	-	USH2A	2	1	Anne-Françoise Roux
00170507	-	PubMed: Wei 2014	Proband - also carries GJB2:c.235del (het)	F	-	China	-	-	-	-	-	DFN	-	-	USH2A	1	1	Anne-Françoise Roux
00170803	S1682	PubMed: Baux 2017	Proband - Age 8 at the time of the study - possible USH2	M	-	France	-	-	-	-	-	DFN	-	-	MYO15A, USH2A	3	1	Anne-Françoise Roux
00170804	S1679	PubMed: Baux 2017	Proband - Age 14 at the time of the study - possible USH2	F	-	France	-	-	-	-	-	DFN	-	-	GJB2, USH2A	3	1	Anne-Françoise Roux
00170805	S1752	PubMed: Baux 2017	Proband - Age 3 at the time of the study - possible USH2	F	-	France	-	-	-	-	-	DFN	-	-	USH2A	2	1	Anne-Françoise Roux
00170806	S1768	PubMed: Baux 2017	Proband - Age 13 at the time of the study - possible USH2	F	-	France	-	-	-	-	-	DFN	-	-	USH2A	1	1	Anne-Françoise Roux
00327133	-	PubMed: Kim 2022, Journal: Kim 2022	-	-	-	Korea, South (Republic)	-	-	-	-	-	DFN	-	-	-	-	1	So Young Kim
00384963	-	-	-	-	-	-	-	-	-	-	-	DFN	-	ATP6V1B2	ATP6V1B2	1	1	Tao Cai
00384965	-	-	-	-	-	-	-	-	-	-	-	DFN	-	KIF11	KIF11	1	1	Tao Cai
00412788	-	-	analysis 125 individuals with non-syndromic deafness (87 from 57 families, 38 sporadic cases).	-	-	Mexico	Mestizo. European/Ameridian probable	-	-	-	-	DFN	-	GJB2	GJB2	1	4	Guillermina García Sánchez
00415184	-	-	analysis 125 individuals with non-syndromic deafness (87 from 57 families, 38 sporadic cases)	-	-	Mexico	Mestizo. European/Ameridian probable	-	-	-	-	DFN	-	GJB2	GJB2	1	29	Guillermina García Sánchez
00428724	family	PubMed: Wonkam 2019	undefined family	?	?	Cameroon	Africa	-	-	-	-	DFN	-	GJB2	GJB2	1	1	Yacouba Dia
00464462	04816	-	-	M	-	(China)	-	-	-	-	-	DFN	-	IQGAP3	IQGAP3	1	1	Yu Li

Legend

How to query

Global Variome shared LOVD

PIP5K1C (phosphatidylinositol-4-phosphate 5-kinase,...)