All individuals with variants in gene KRT16

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.

70 entries on 1 page. Showing entries 1 - 70.

Legend

How to query

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000208	-	PubMed: Sun 2011, Journal: Sun 2011	-	M	no	Netherlands	-	-	-	-	-	CHTE	central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml)	1	1	Yu Sun
00054881	Pat1	PubMed: Corbett 2011, Journal: Corbett 2011	2-generation family, 1 affected, unaffected heterozygous carrier parents/sib	F	yes	Australia	-	32y	-	-	-	EPM6	7y tremor; 7-8y absences; 8y obvious myoclonus; 13y drop attacks; 13y convulsive seizures; 2y areflexia; 14y wheelchair; 22y bedfast; normal cognition until 25y, mmemory difficulties later; scoliosis, pes cavus; EEG generalized spike-wave, posterior emphasis photosensitive; CK 570–800 (normal <170)	1	1	Johan den Dunnen
00291702	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	-	?	-	1	18	Mohammed Faruq
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	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	1	1	Johan den Dunnen
00392942	Fam9	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	1	1	Johan den Dunnen
00392943	Fam10	PubMed: Smith 2005	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	1	1	Johan den Dunnen
00392944	Fam11	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	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	1	1	Johan den Dunnen
00392955	Fam22	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	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	1	1	Johan den Dunnen
00392957	Fam24	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	1	1	Johan den Dunnen
00392958	Fam25	PubMed: Smith 2005	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita type 1	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	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	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,	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,	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,	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,	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,	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,	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,	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,	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,	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,	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,	1	1	Johan den Dunnen
00393022	Fam54	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, no oral leucokeratosis, follicular hyperkeratosis,	1	1	Johan den Dunnen
00393023	Fam55	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, steatocystoma,	1	1	Johan den Dunnen
00393024	Fam56	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 5 thickened toenails, no oral leucokeratosis, follicular hyperkeratosis,	1	1	Johan den Dunnen
00393025	Fam57	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 2 thickened toenails, oral leucokeratosis,	1	1	Johan den Dunnen
00393026	Fam58	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 3 thickened toenails, no oral leucokeratosis,	1	1	Johan den Dunnen
00393027	Fam59	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), no thickened fingernails, no thickened toenails, no oral leucokeratosis,	1	1	Johan den Dunnen
00393028	Fam60	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 6 thickened toenails, no oral leucokeratosis,	1	1	Johan den Dunnen
00393029	Fam61	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain requires medication, 7 thickened toenails, no oral leucokeratosis,	1	1	Johan den Dunnen
00393030	Fam62	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, pilosebaceous cysts, follicular hyperkeratosis,	1	1	Johan den Dunnen
00393031	Fam63	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, no oral leucokeratosis, follicular hyperkeratosis,	1	1	Johan den Dunnen
00393032	Fam64	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,	1	1	Johan den Dunnen
00393033	Fam65	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, plantar keratoderma, plantar pain (no medication used), 2 thickened toenails, no oral leucokeratosis,	1	1	Johan den Dunnen
00393034	Fam66	PubMed: Wilson 2014	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, born without teeth, palmoplantar keratoderma, plantar pain (no medication used), 2 thickened fingernails, 3 thickened toenails, oral leucokeratosis,	1	1	Johan den Dunnen
00393104	Fam51	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 8y-thickened toenails, 8y-thickened fingernails, 5y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393105	Fam52	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 3y-thickened toenails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393106	Fam53	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 30y-thickened toenails, 30y-thickened fingernails, 30y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393107	Fam54	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 1y-thickened toenails, 1y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393108	Fam55	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 15y-thickened toenails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393109	Fam56	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 13y-thickened toenails, 30y-thickened fingernails, 3y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393110	Fam57	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 16y-thickened toenails, 7y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393111	Fam58	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 6y-thickened toenails, 15y-thickened fingernails, 5y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393112	Fam59	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 6y-thickened toenails, 7y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393113	Fam60	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 60y-thickened toenails, 6y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393114	Fam61	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 23y-thickened toenails, 23y-thickened fingernails, 14y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393115	Fam62	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 17y-thickened toenails, 13y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393116	Fam63	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 6m-thickened toenails, 6m-thickened fingernails, 6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393117	Fam64	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 3y-thickened toenails, 4y-thickened fingernails, 2y-plantar keratoderma, no oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393118	Fam65	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 11m-thickened toenails, 7m-thickened fingernails, 1y1m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393119	Fam66	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 2y6m-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393120	Fam67	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393121	Fam68	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 5y-thickened toenails, 5y-thickened fingernails, 5y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393122	Fam69	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 13y-thickened toenails, 13y-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, pilosebaceous cysts	1	1	Johan den Dunnen
00393123	Fam70	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 2y-thickened toenails, 2y-thickened fingernails, 1y6m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393124	Fam71	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 0y-plantar keratoderma, no oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393125	Fam72	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 2y-thickened toenails, 2y6m-thickened fingernails, 2y-plantar keratoderma, oral leukokeratosis, follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393126	Fam73	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 1y-thickened toenails, 7m-thickened fingernails, 12m-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393127	Fam74	PubMed: Wilson 2011	patient	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 3y-thickened toenails, 5y-thickened fingernails, 4y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393128	Fam75	PubMed: Wilson 2011	family	-	-	United Kingdom (Great Britain)	-	-	-	-	-	PC	pachyonychia congenita, 0y-thickened toenails, 0y-thickened fingernails, 1y-plantar keratoderma, oral leukokeratosis, no follicular hyperkeratosis, no steatocystoma cysts, no pilosebaceous cysts	1	1	Johan den Dunnen
00393183	Fam16	PubMed: Liao 2007	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; normal nails; 18m-plantar keratosis; no oral leukokeraotsis; 6y-no nail dystrophy	1	1	Johan den Dunnen
00393184	Fam17	PubMed: Liao 2007	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 8y-nail changes; 3y-12y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; very mild nail changes; plantar blisters	1	1	Johan den Dunnen
00393185	Fam18	PubMed: Liao 2007	6-generation family, >8 affected	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 50y-nail changes; 3y-12y-plantar keratosis; no oral leukokeraotsis; no follicular keratoses; very mild nail changes	1	8	Johan den Dunnen
00393186	Fam19	PubMed: Liao 2007	3-generation family	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1/focal non-epidermolytic palmoplantar keratoderma; 13m-plantar keratosis; no oral leukokeraotsis; very mild nail changes	1	2	Johan den Dunnen
00393187	Fam20	PubMed: Liao 2007	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; few months-nail changes; 3y-plantar keratosis; oral leukokeraotsis; no follicular keratoses; skin blistering; plantar blisters	1	1	Johan den Dunnen
00393188	Fam21	PubMed: Liao 2007	patient	-	-	-	-	-	-	-	-	PC	pachyonychia congenita type 1; 6m-nail changes; 2y-plantar keratosis; oral leukokeraotsis; no follicular keratoses; plantar blisters	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD

KRT16 (keratin 16)