Disease #05989 (PC (pachyonychia congenita))

Official abbreviation	PC
Name	pachyonychia congenita
OMIM ID	-
Inheritance	-
Individuals reported having this disease	262
Phenotype entries for this disease	262
Associated with 4 genes	KRT17, KRT6A, KRT6B, KRT6C
Associated tissues	-
Disease features	-
Remarks	-
Date created	2021-11-25 13:51:09 +01:00 (CET)
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

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

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'

To sort on a certain column, click on the column header or on the arrows. If that column is already selected to sort on, the sort order will be swapped. The column currently sorted on has a darker blue background color than the other columns. The up and down arrows next to the column name indicate the current sorting direction. When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.

262 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

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
00392921	Pat1	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; no palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT6A	KRT6A	1	1	Johan den Dunnen
00392922	Pat2	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT6A	KRT6A	1	1	Johan den Dunnen
00392923	Pat3	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT6A	KRT6A	1	1	Johan den Dunnen
00392924	Pat4	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; no palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT6A	KRT6A	1	1	Johan den Dunnen
00392925	Pat5	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; no palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT6A	KRT6A	1	1	Johan den Dunnen
00392926	Pat6	PubMed: Terrinoni 2001	family	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT6A	KRT6A	1	1	Johan den Dunnen
00392927	Pat7	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT6A	KRT6A	1	1	Johan den Dunnen
00392928	Pat8	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT16	KRT16	1	1	Johan den Dunnen
00392929	Pat9	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; palmoplantar keratoderma; oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; no pilosebaceous cysts; no natal teeth	KRT16	KRT16	1	1	Johan den Dunnen
00392930	Pat10	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; no natal teeth	KRT17	KRT17	1	1	Johan den Dunnen
00392931	Pat11	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; no natal teeth	KRT17	KRT17	1	1	Johan den Dunnen
00392932	Pat12	PubMed: Terrinoni 2001	family	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; natal teeth	KRT17	KRT17	1	1	Johan den Dunnen
00392933	Pat13	PubMed: Terrinoni 2001	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 2; palmoplantar keratoderma; no oral leukokeratosis; no keratosis ocular mucosa; no follicular hyperkeratosis; pilosebaceous cysts; no natal teeth	KRT17	KRT17	1	1	Johan den Dunnen
00392934	Fam1	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392935	Fam2	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392936	Fam3	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392937	Fam4	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392938	Fam5	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392939	Fam6	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392940	Fam7	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392941	Fam8	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392942	Fam9	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT16	KRT16	1	1	Johan den Dunnen
00392943	Fam10	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT16	KRT16	1	1	Johan den Dunnen
00392944	Fam11	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT16	KRT16	1	1	Johan den Dunnen
00392945	Fam12	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392946	Fam13	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392947	Fam14	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392948	Fam15	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392949	Fam16	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392950	Fam17	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392951	Fam18	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392952	Fam19	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392953	Fam20	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT6A	KRT6A	1	1	Johan den Dunnen
00392954	Fam21	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	focal non-epidermolytic palmoplantar keratoderma, minor nail changes, palmoplantar keratoderm	KRT16	KRT16	1	1	Johan den Dunnen
00392955	Fam22	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT16	KRT16	1	1	Johan den Dunnen
00392956	Fam23	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	focal non-epidermolytic palmoplantar keratoderma, no nail changes, no oral lesions, palmoplantar keratoderma	KRT16	KRT16	1	1	Johan den Dunnen
00392957	Fam24	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT16	KRT16	1	1	Johan den Dunnen
00392958	Fam25	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	KRT16	KRT16	1	1	Johan den Dunnen
00392959	Fam26	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 2, natal teeth	KRT17	KRT17	1	1	Johan den Dunnen
00392960	Fam27	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 2	KRT17	KRT17	1	1	Johan den Dunnen
00392961	Fam28	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 2	KRT17	KRT17	1	1	Johan den Dunnen
00392962	Fam29	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 2	KRT6B	KRT6B	1	1	Johan den Dunnen
00392963	Fam30	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 2	KRT6B	KRT6B	1	1	Johan den Dunnen
00392964	family	PubMed: Du 2012	2-generation family, 1 affected mother/daughter; mother	F	-	China	-	-	-	-	-	PC	see paper; ..., toenail thickening, plantar hyperkeratosis with fissuring, mild focal palmar hyperkeratosis, no fingernail changes, oral leukokeratosis, chapped lips, fissured tongue, hyperhidrosis hands and feet	KRT6A	KRT6A	1	2	Johan den Dunnen
00392965	family	PubMed: Du 2012	daughter	F	-	China	-	-	-	-	-	PC	see paper; ..., focal plantar hyperkeratosis, fissured tongue, gingivitis, no nail involvement, no hand involvement, hyperhidrosis hands and feet	KRT6A	KRT6A	1	1	Johan den Dunnen
00392966	family	PubMed: Du 2012	2-generation family, affected mother/daughter; mother	F	-	China	-	-	-	-	-	PC	see paper; ..., severe hypertrophic toe nail dystrophy, palmoplantar keratoderma, hyperhidrosis hands and feet	KRT16	KRT16	1	2	Johan den Dunnen
00392967	family	PubMed: Du 2012	daughter	F	-	China	-	-	-	-	-	PC	see paper; ..., focal plantar hyperkeratosis at pressure points, no nail involvement, no hand involvement, hyperhidrosis hands and feet	KRT16	KRT16	1	1	Johan den Dunnen
00392969	Fam1	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392970	Fam2	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, very mild palmoplantar keratoderma, no plantar pain, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392971	Fam3	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392972	Fam4	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392973	Fam5	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, 10 thickened fingernails, 2 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392974	Fam6	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392975	Fam7	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392976	Fam8	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392977	Fam9	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, no plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392978	Fam10	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392979	Fam11	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392980	Fam12	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392981	Fam13	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392982	Fam14	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392983	Fam15	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392984	Fam16	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 6 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392985	Fam17	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392986	Fam18	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392987	Fam19	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392988	Fam20	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 5 thickened fingernails, 10 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392989	Fam21	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 5 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392990	Fam22	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392991	Fam23	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392992	Fam24	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392993	Fam25	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392994	Fam26	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392995	Fam27	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392996	Fam28	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, <3y-no plantar pain, 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, small red bumps and occasional spots face (could be baby acne)	KRT6A	KRT6A	1	1	Johan den Dunnen
00392997	Fam29	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392998	Fam30	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 10 fingernails, 7 thickened toenails, oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00392999	Fam31	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 2 thickened fingernails, 10 thickened toenails, no oral leucokeratosis,	KRT6A	KRT6A	1	1	Johan den Dunnen
00393000	Fam32	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 10 fingernails, 7 thickened toenails, oral leucokeratosis,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393001	Fam33	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 6 thickened fingernails, 10 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393002	Fam34	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 6 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393003	Fam35	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 8 thickened fingernails, 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts, follicular hyperkeratosis,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393004	Fam36	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 7 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393005	Fam37	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 6 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393006	Fam38	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 8 thickened toenails, oral leucokeratosis,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393007	Fam39	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 4 thickened toenails, no oral leucokeratosis, steatocystoma, pilosebaceous cysts, follicular hyperkeratosis,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393008	Fam40	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 9 thickened toenails, no oral leucokeratosis, steatocystoma,	KRT6B	KRT6B	1	1	Johan den Dunnen
00393009	Fam41	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 4 thickened toenails, oral leucokeratosis, steatocystoma, pilosebaceous cysts,	KRT6C	KRT6C	1	1	Johan den Dunnen
00393010	Fam42	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis,	KRT6C	KRT6C	1	1	Johan den Dunnen
00393011	Fam43	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393012	Fam44	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 4 thickened toenails, no oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393013	Fam45	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 6 thickened fingernails, 10 thickened toenails, no oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393014	Fam46	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 5 thickened toenails, no oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393015	Fam47	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened toenails, no oral leucokeratosis, pilosebaceous cysts,	KRT16	KRT16	1	1	Johan den Dunnen
00393016	Fam48	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 10 thickened fingernails, 10 thickened toenails, no oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393017	Fam49	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, 6y-somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393018	Fam50	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 3 thickened toenails, oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393019	Fam51	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 8 thickened toenails, no oral leucokeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393020	Fam52	PubMed: Wilson 2014	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, somewhat plantar pain, 2 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis,	KRT16	KRT16	1	1	Johan den Dunnen
00393021	Fam53	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain requires medication, 10 thickened fingernails, 10 thickened toenails, oral leucokeratosis, follicular hyperkeratosis,	KRT16	KRT16	1	1	Johan den Dunnen

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Global Variome shared LOVD

ZEB2 (zinc finger E-box binding homeobox 2)