All individuals with variants in gene CTSK

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.

82 entries on 1 page. Showing entries 1 - 82.

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
00058526	-	PubMed: Araujo 2016	-	M	?	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00058527	-	PubMed: Araujo 2016	-	M	yes	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00058528	-	PubMed: Araujo 2016	-	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00058529	-	PubMed: Araujo 2016	-	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00058530	-	PubMed: Araujo 2016	-	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00058531	-	PubMed: Araujo 2016	-	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	1	Thais Fenz Araujo
00058556	-	PubMed: Gelb 1996	large, consanguineous family, 16 affecteds	F;M	yes	Israel	Arab	-	-	-	-	PYKNODYSOSTOSIS	osteosclerosis, short stature, acro-osteolysis distal phalanges, bone fragility, clavicular dysplasia, skul deformities with delayed suture closure	1	16	Johan den Dunnen
00058557	-	PubMed: Gelb 1996	2-generation family with 2 affected sibs	-	-	Morocco	Arab	-	-	-	-	PYKNODYSOSTOSIS	-	1	2	Johan den Dunnen
00058558	-	PubMed: Gelb 1996	-	-	no	United States	Hispanic	-	-	-	-	PYKNODYSOSTOSIS	-	2	1	Johan den Dunnen
00064684	-	PubMed: Arman 2014	2 affected cousins	F	yes	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	2	Thais Fenz Araujo
00064742	-	PubMed: Arman 2014	2 affected cousins	F	-	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	2	Thais Fenz Araujo
00064770	-	PubMed: Arman 2014	Four affected individuals from four different families Gender: (M,F,M,M)	-	yes	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	4	Thais Fenz Araujo
00064771	-	PubMed: Arman 2014	-	F	no	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	Arnold Chiari malformation	1	1	Thais Fenz Araujo
00064772	-	PubMed: Arman 2014	-	M	yes	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00064773	-	PubMed: Arman 2014	Two affected individuals. One female (8) with consanguineos parents and one male (9) with non-consaguineous parents.	-	-	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	2	Thais Fenz Araujo
00064774	-	PubMed: Arman 2014	Three affected individuals from three different families. Gender: (M,F,M)	-	yes	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	3	Thais Fenz Araujo
00064775	-	PubMed: Arman 2014	Three affected individuals from three different families. Gender: (M,F,M)	-	yes	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	3	Thais Fenz Araujo
00064776	-	PubMed: Arman 2014	Three affected females, two siblings and one unrelated	F	yes	Turkey	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	3	Thais Fenz Araujo
00074568	-	PubMed: Araujo 2016	-	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00074569	-	PubMed: Araujo 2016	-	F	yes	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00074570	-	PubMed: Araujo 2016	-	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00074571	-	PubMed: Araujo 2016	one female (7) and one male (11) from two unrelated consanguineous families.	-	yes	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	2	Thais Fenz Araujo
00074572	-	PubMed: Araujo 2016	two affected siblings (one male and one female)	-	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	2	Thais Fenz Araujo
00074574	-	PubMed: Araujo 2016	-	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00074575	-	PubMed: Araujo 2016	Four unrelated affected individuals from four consanguineous families. Gender: M(13), M(15), M(19) and F(27).	-	yes	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	4	Thais Fenz Araujo
00074576	-	PubMed: Araujo 2016	two affected brothers	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	2	Thais Fenz Araujo
00074577	-	PubMed: Araujo 2016	-	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	1	Thais Fenz Araujo
00074579	-	PubMed: Araujo 2016	-	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00074581	-	PubMed: Araujo 2016	Three unrelated affected males from three consanuineous families.	M	yes	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	3	Thais Fenz Araujo
00074582	-	PubMed: Araujo 2016	-	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00074583	-	PubMed: Araujo 2016	-	M	yes	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00074584	-	PubMed: Araujo 2016	Two affected sibs (one male and one female)	-	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	2	Thais Fenz Araujo
00074586	-	PubMed: Araujo 2016	-	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	1	Thais Fenz Araujo
00074587	-	PubMed: Araujo 2016	-	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	1	Thais Fenz Araujo
00074589	-	PubMed: Araujo 2016	Two affected sisters	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	2	Thais Fenz Araujo
00074590	-	PubMed: Araujo 2016	Two affected sibs (one male and one female)	-	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	2	Thais Fenz Araujo
00074591	-	PubMed: Araujo 2016	-	F	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	1	Thais Fenz Araujo
00074593	-	PubMed: Araujo 2016	-	M	no	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	2	1	Thais Fenz Araujo
00074594	-	PubMed: Araujo 2016	-	F	yes	Brazil	-	-	-	-	-	PYKNODYSOSTOSIS	-	1	1	Thais Fenz Araujo
00094998	-	PubMed: Gelb 1998	2-generation family, 1 affected, unaffected heterozygous carrier father, non-carrier mother	M	-	Belgium	Belgian;Algerian	-	-	-	-	PYKNODYSOSTOSIS	see paper; ..., skeletal dysplasia, pycnodysostosis, normal birth height/weight; 7y-normal psychomotor development	2	1	Johan den Dunnen
00095006	-	PubMed: Hou 1999	-	-	-	United States	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	1	Johan den Dunnen
00095007	-	PubMed: Hou 1999	-	-	-	United States	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095008	-	PubMed: Hou 1999	-	-	-	United States	Spanish	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	1	Johan den Dunnen
00095009	-	PubMed: Hou 1999	-	-	-	United States	Portugese	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095010	-	PubMed: Hou 1999	-	-	-	United States	Indian	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095011	-	PubMed: Hou 1999	-	-	-	United States	Portugese	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095012	-	PubMed: Hou 1999	-	-	-	United States	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095013	-	PubMed: Hou 1999	-	-	-	United States	Honduran	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095014	-	PubMed: Nishi 1999	-	-	-	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095015	-	PubMed: Nishi 1999	-	-	-	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095016	-	PubMed: Nishi 1999	-	-	-	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095017	-	PubMed: Nishi 1999	-	-	-	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	1	Johan den Dunnen
00095018	-	PubMed: Nishi 1999	2-generation family, 2 affected sibs	-	-	Switzerland	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	2	Johan den Dunnen
00095019	-	PubMed: Fujita 2000	-	M	no	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095020	-	PubMed: Fujita 2000	-	F	yes	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095021	-	PubMed: Fujita 2000	-	M	yes	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095022	-	PubMed: Fujita 2000	-	M	no	Japan	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095023	-	PubMed: Haagerup 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Denmark	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095024	-	PubMed: Haagerup 2000	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	Denmark	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	2	Johan den Dunnen
00095025	-	PubMed: Haagerup 2000	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	no	Denmark	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	2	Johan den Dunnen
00095026	-	PubMed: Haagerup 2000	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Denmark	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095027	-	PubMed: Haagerup 2000	2-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents	F;M	no	Denmark	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	3	Johan den Dunnen
00095028	-	PubMed: Fratzl-Zelman 2004	-	M	-	Austria	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095029	-	PubMed: Fratzl-Zelman 2004	-	F	-	Austria	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	1	Johan den Dunnen
00095030	-	PubMed: Schilling 2007	5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents/sibs	F;M	yes	Germany	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	3	Johan den Dunnen
00095031	-	PubMed: Donnarumma 2007	-	M	no	Italy	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	1	Johan den Dunnen
00095032	-	PubMed: Donnarumma 2007	-	F	no	Italy	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	1	Johan den Dunnen
00095033	-	PubMed: Donnarumma 2007	-	M	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095034	-	PubMed: Donnarumma 2007	-	F	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095035	-	PubMed: Donnarumma 2007	-	F	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095036	-	PubMed: Donnarumma 2007	-	F	yes	Scotland	Pakistan	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095037	-	PubMed: Donnarumma 2007	-	M	yes	United Kingdom (Great Britain)	Pakistan	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095038	-	PubMed: Donnarumma 2007	-	M	yes	Canada	Egypt	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095039	-	PubMed: Donnarumma 2007	-	F	no	Portugal	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095040	-	PubMed: Donnarumma 2007	-	M	no	Spain	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	2	1	Johan den Dunnen
00095041	-	PubMed: Donnarumma 2007	-	M	yes	Tunisia	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095042	-	PubMed: Donnarumma 2007	3 related patients	F;M	yes	Netherlands	Morocco	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	3	Johan den Dunnen
00095043	-	PubMed: Chavassieux 2008	-	F	-	France	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00095044	-	PubMed: Li 2009	-	M	-	China	-	-	-	-	-	PYKNODYSOSTOSIS	see paper; …	1	1	Johan den Dunnen
00264073	CTSK-IV1	PubMed: Razmara 2020	4-generation family, 1 affected, unaffected heterozygous carrier parents	M	yes	Iran	-	?	-	no	none	stature, short	typical clinical features hereditary pycnodysostosis, abnormal skeletal system, scoliosis, short stature, skeletal dysplasia, increased bone density, open sutures of anterior fontanelle, closed posterior fontanelle, history of developed easy fractures (3x), asymmetric skull, macrocephaly, short fingers with dysplastic nails, midface retrusion; dental abnormalities including severe crowding, poor oral hygiene, periodontal problems, delayed exfoliation primary teeth, eruption permanent teeth, enamel hypoplasia, obliteration pulp chambers, hypercementosis; radiographs exhibit very obtuse mandibular angle, general increase bone density, open fontanels and sutures	1	1	Ehsan Razmara
00331389	11DG2311, 11DG2314, 11DG2315, 13DG0493, 13DG0494	PubMed: Maddirevula 2018	family, 5 affected (5M)	M	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopetrosis, Frontal bossing, Depressed nasal bridge, Acromesomelia, Pectus carinatumNo	1	5	LOVD
00331390	12DG1644, 12DG1645	PubMed: Maddirevula 2018	family, 2 affected (2F)	F	yes	-	Arab	-	-	-	-	skeletal dysplasia	Osteopetrosis, Short stature, Deviated nasal septum, Abnormality of the dentition	1	2	LOVD

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Global Variome shared LOVD

CTSK (cathepsin K)