Global Variome shared LOVD
KRT6A (keratin 6A)
LOVD v.3.0 Build 30b [
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All individuals with variants in gene KRT6A
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.
135 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
« First
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00392920
FamA
PubMed: Bowden 1995
4-generation family, 3 affected (F, 2M)
F;M
-
Slovenia
-
-
-
-
-
PC3
see paper; ...,pachyonychia congenita Jadassohn-Lewandowsky type, thickened nails, palmoplantar keratoderma, leukokeratosis tongue
1
3
Johan den Dunnen
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
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
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
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
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
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
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
1
1
Johan den Dunnen
00392934
Fam1
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392935
Fam2
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392936
Fam3
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392937
Fam4
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392938
Fam5
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392939
Fam6
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392940
Fam7
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392941
Fam8
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392945
Fam12
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392946
Fam13
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392947
Fam14
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392948
Fam15
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392949
Fam16
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392950
Fam17
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392951
Fam18
PubMed: Smith 2005
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392952
Fam19
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
1
1
Johan den Dunnen
00392953
Fam20
PubMed: Smith 2005
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita type 1
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
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
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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,
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)
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,
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,
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,
1
1
Johan den Dunnen
00393054
Fam1
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393055
Fam2
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 30y-thickened toenails, 3m-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393056
Fam3
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393057
Fam4
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393058
Fam5
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393059
Fam6
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 3m-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393060
Fam7
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 1m-thickened fingernails, 14y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393061
Fam8
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393062
Fam9
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393063
Fam10
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 3m-thickened toenails, 3m-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393064
Fam11
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393065
Fam12
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 2m-thickened toenails, 2m-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393066
Fam13
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393067
Fam14
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 9y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393068
Fam15
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393069
Fam16
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 1y6m-thickened toenails, 3m-thickened fingernails, 8y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393070
Fam17
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y6m-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393071
Fam18
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0d-thickened fingernails, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393072
Fam19
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 1y-thickened toenails, 0y-thickened fingernails, 4y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393073
Fam20
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393074
Fam21
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 14d-thickened toenails, 14d-thickened fingernails, 1m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393075
Fam22
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393076
Fam23
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 7y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393077
Fam24
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 6m-thickened toenails, 6m-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393078
Fam25
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393079
Fam26
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393080
Fam27
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 3y-thickened toenails, 3y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393081
Fam28
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 3y-thickened toenails, 3y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393082
Fam29
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393083
Fam30
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393084
Fam31
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 13y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393085
Fam32
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 6y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393086
Fam33
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 10y-thickened toenails, 15y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393087
Fam34
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
00393088
Fam35
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393089
Fam36
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393090
Fam37
PubMed: Wilson 2011
family
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393091
Fam38
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393092
Fam39
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393093
Fam40
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393094
Fam41
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts
1
1
Johan den Dunnen
00393095
Fam42
PubMed: Wilson 2011
patient
-
-
United Kingdom (Great Britain)
-
-
-
-
-
PC
pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, pilosebaceous cysts
1
1
Johan den Dunnen
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