All individuals with variants in gene ALPL

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.

655 entries on 7 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7		Next ›	Last »

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	Data_av	Treatment	Disease	Phenotype details	Variants	Panel size	Owner
00000020	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	-	-	1	1	Global Variome, with Curator vacancy
00000021	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000022	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00000023	-	PubMed: Bell 2011	-	-	-	-	-	-	-	-	BMD/DMD	-	1	1	Global Variome, with Curator vacancy
00050634	-	PubMed: DDDS 2015, Journal: DDDS 2015	family, 1 affected	M	-	United Kingdom (Great Britain)	-	-	Decipher	-	?	supraventricular tachycardia, mild short stature, clinodactyly of the 5th finger, specific learning disability	1	1	Johan den Dunnen
00080151	-	PubMed: Muhn et al.2013	-	M	?	- (not applicable)	-	-	-	-	ACRDYS1	PTH resistance, short stature, brachydactily, cone-shaped epiphyses, FSH resistance	1	1	Francesca Marta Elli
00080152	-	PubMed: Nagasaki et al.2012	-	F	no	(Japan)	-	-	-	-	ACRDYS1	PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, IUGR, cone-shaped epiphyses	1	1	Francesca Marta Elli
00143197	-	-	-	F	-	-	-	-	-	-	HPPA	-	1	1	Dr. Alexandra Wey-Fabrizius
00143761	-	-	-	F	-	-	-	-	-	-	HPPA	-	2	1	Dr. Alexandra Wey-Fabrizius
00289720	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	1	Mohammed Faruq
00289721	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	1	Mohammed Faruq
00289722	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	2	Mohammed Faruq
00289723	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	36	Mohammed Faruq
00295999	-	-	-	M	-	-	-	-	-	-	?	Osteopenia (HP:0000938); Abnormality of bone mineral density (HP:0004348)	1	1	Andreas Laner
00304182	-	PubMed: Narang 2020, Journal: Narang 2020	analysis 2794 individuals (India)	-	-	India	-	-	-	-	?	-	1	1	Mohammed Faruq
00305896	11	-	-	M	-	China	-	-	-	-	?	-	2	1	Sha Hong
00307318	-	-	-	M	-	-	-	-	-	-	?	Hypophosphatemia (HP:0002148); Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Myopathy (HP:0003198); Muscular hypotonia (HP:0001252); Premature loss of primary teeth (HP:0006323)	1	1	IMGAG
00324527	-	PubMed: Mornet 2000	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324528	-	PubMed: Greenberg 1993	-	-	-	Canada	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324529	-	PubMed: Mumm 2002	-	-	-	United States	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324530	-	Versailles lab 2011	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324531	-	PubMed: Henthorn 1992	-	-	-	United States	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324532	-	PubMed: Mornet 2000	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324533	-	PubMed: Mornet 2000	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324534	-	PubMed: Mornet 2000	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324535	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324536	-	PubMed: Mornet 2000	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324537	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324538	-	PubMed: Orimo 1997	-	-	-	Japan	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324539	-	PubMed: Henthorn 1992	-	-	-	United States	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324540	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324541	-	Versailles lab 2011	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324542	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324543	-	PubMed: Greenberg 1993	-	-	-	Canada	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324544	-	PubMed: Mornet 2000	-	-	-	France	-	-	-	-	Healthy/Control	-	1	1	Johan den Dunnen
00324546	Pat7	PubMed: Spentchian 2006	-	-	-	Portugal	-	-	-	-	HPP	perinatal; asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom	1	1	Johan den Dunnen
00324547	patient	PubMed: Hacihamdioglu 2018	2-generation family, 1 affected unaffected heterozygous carrier parents	M	yes	Turkey	-	-	-	-	HPP	see paper; ..., perinatal	1	1	Johan den Dunnen
00324549	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA)	-	-	-	United States	-	-	-	-	HPP	infantile	2	1	Johan den Dunnen
00324550	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324551	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab	-	-	-	France	-	-	-	-	HPP	infantile	2	1	Johan den Dunnen
00324552	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2012	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324553	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec. 2015	-	-	-	France	-	-	-	-	HPP	prenatal, asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom	2	1	Johan den Dunnen
00324554	Pat8	PubMed: Spentchian 2006	-	-	-	Germany	-	-	-	-	HPP	infantile	2	1	Johan den Dunnen
00324555	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2018	-	-	-	France	-	-	-	-	HPP	adult	1	1	Johan den Dunnen
00324556	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, I Rau, Hamburg, Germany	-	-	-	Germany	-	-	-	-	HPP	adult	1	1	Johan den Dunnen
00324557	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab April 2018	-	-	-	France	-	-	-	-	HPP	adult	1	1	Johan den Dunnen
00324558	-	PubMed: Whyte 2015	-	-	-	United States	-	-	-	-	HPP	odonto	1	2	Johan den Dunnen
00324559	-	PubMed: Whyte 2015	-	-	-	United States	-	-	-	-	HPP	odonto	1	1	Johan den Dunnen
00324647	Pat1	PubMed: Spentchian 2006	-	-	-	Czech Republic	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324648	Pat2	PubMed: Spentchian 2006	-	-	-	England	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324649	Pat3	PubMed: Spentchian 2006	-	-	-	Netherlands	-	-	-	-	HPP	adult	2	1	Johan den Dunnen
00324650	Pat4	PubMed: Spentchian 2006	-	-	-	Turkey	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324651	Pat5	PubMed: Spentchian 2006	-	-	-	Germany	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324652	Pat6	PubMed: Spentchian 2006	-	-	-	England	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324665	PatA	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Turkey	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324666	PatB	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	United States	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324667	PatC	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Turkey	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324668	PatD	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Sweden	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324669	PatE	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Pakistan	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324670	PatF	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Croatia (Hrvatska)	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324671	PatG	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Lebanon	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324672	PatH	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	England	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324673	PatJ	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Serbia	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324674	PatK	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Germany	-	-	-	-	HPP	perinatal	2	1	Johan den Dunnen
00324675	PatL	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Romania	-	-	-	-	HPP	infantile	2	1	Johan den Dunnen
00324687	patient	PubMed: Mentrup 2016	2-generation family, 1 affected unaffected heterozygous carrier parents	M	yes	Germany	Turkey	-	-	-	HPP	see paper; ..., infantile	6	1	Johan den Dunnen
00324688	twins	PubMed: Martins 2013	3-generation family, affected twin brothers, unaffected heterozygous carrier parents	M	-	Brazil	-	-	-	-	HPP	see paper; ..., odonto	2	2	Johan den Dunnen
00324691	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab June 2017	-	-	-	France	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324692	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2013	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324693	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov 2008	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324694	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	HPP	adult	1	1	Johan den Dunnen
00324695	-	PubMed: Saglam 2017	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324696	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324697	-	PubMed: Saglam 2017	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324698	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Brugger and T. Brown (Alexion)	-	-	-	-	-	-	-	-	HPP	mild form, low AP and unspecific symptoms	1	1	Johan den Dunnen
00324699	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab dec. 2014	-	-	-	France	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324700	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2009	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324701	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011	-	-	-	France	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324702	-	PubMed: Zhang 2012	-	-	-	-	-	-	-	-	HPP	adult	1	1	Johan den Dunnen
00324703	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324704	-	PubMed: Balasubramaniam 2010	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324705	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Bone Metabolism Unit, IRCCS, Milano	-	-	-	Italy	-	-	-	-	HPP	adult	1	1	Johan den Dunnen
00324706	HPP35	PubMed: Riancho-Zarrabeitia 2016	-	-	-	Spain	-	-	-	-	HPP	asymtomatic or very mild symptoms	1	1	Johan den Dunnen
00324707	-	PubMed: Mao 2019	-	-	-	-	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324708	-	PubMed: Taillandier 2000	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324709	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324710	Na1	PubMed: Mornet 1998	-	-	-	Turkey	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324711	-	PubMed: Weiss 1988	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324712	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324713	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2004	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324714	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab april 2009	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324715	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec 2011	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324716	-	PubMed: Saraff 2016	-	-	-	-	-	-	-	-	HPP	asymptomatic	1	1	Johan den Dunnen
00324717	-	PubMed: Brun-Heath 2005	-	-	-	-	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324718	-	PubMed: Taillandier 1999	-	-	-	-	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324719	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jun 2010	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324720	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003	-	-	-	France	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324721	-	PubMed: Taillandier 1999	-	-	-	-	-	-	-	-	HPP	infantile	1	1	Johan den Dunnen
00324722	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2008	-	-	-	France	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen
00324723	-	PubMed: Brun-Heath 2005	-	-	-	-	-	-	-	-	HPP	perinatal	1	1	Johan den Dunnen

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Global Variome shared LOVD

ALPL (alkaline phosphatase, liver/bone/kidney)