Disease #05701 (HPP (hypophosphatasia (HPP)))

Official abbreviation	HPP
Name	hypophosphatasia (HPP)
OMIM ID	-
Inheritance	Autosomal dominant, Autosomal recessive
Individuals reported having this disease	618
Phenotype entries for this disease	617
Associated with 1 gene	ALPL
Associated tissues	-
Disease features	-
Remarks	-
Date created	2020-02-24 17:59:28 +01:00 (CET)
Date last edited	2020-12-23 15:52:24 +01:00 (CET)

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

How to query this table

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

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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

618 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	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00324546	Pat7	PubMed: Spentchian 2006	-	-	-	Portugal	-	-	-	-	-	HPP	perinatal; asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom	ALPL	ALPL	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	ALPL	ALPL	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	ALPL	ALPL	2	1	Johan den Dunnen
00324550	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324551	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab	-	-	-	France	-	-	-	-	-	HPP	infantile	ALPL	ALPL	2	1	Johan den Dunnen
00324552	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2012	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	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	ALPL	ALPL	2	1	Johan den Dunnen
00324554	Pat8	PubMed: Spentchian 2006	-	-	-	Germany	-	-	-	-	-	HPP	infantile	ALPL	ALPL	2	1	Johan den Dunnen
00324555	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2018	-	-	-	France	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324556	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, I Rau, Hamburg, Germany	-	-	-	Germany	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324557	patient	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab April 2018	-	-	-	France	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324558	-	PubMed: Whyte 2015	-	-	-	United States	-	-	-	-	-	HPP	odonto	ALPL	ALPL	1	2	Johan den Dunnen
00324559	-	PubMed: Whyte 2015	-	-	-	United States	-	-	-	-	-	HPP	odonto	ALPL	ALPL	1	1	Johan den Dunnen
00324647	Pat1	PubMed: Spentchian 2006	-	-	-	Czech Republic	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324648	Pat2	PubMed: Spentchian 2006	-	-	-	England	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324649	Pat3	PubMed: Spentchian 2006	-	-	-	Netherlands	-	-	-	-	-	HPP	adult	ALPL	ALPL	2	1	Johan den Dunnen
00324650	Pat4	PubMed: Spentchian 2006	-	-	-	Turkey	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324651	Pat5	PubMed: Spentchian 2006	-	-	-	Germany	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324652	Pat6	PubMed: Spentchian 2006	-	-	-	England	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324665	PatA	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Turkey	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324666	PatB	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	United States	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324667	PatC	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Turkey	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324668	PatD	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Sweden	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324669	PatE	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Pakistan	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324670	PatF	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Croatia (Hrvatska)	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324671	PatG	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Lebanon	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324672	PatH	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	England	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324673	PatJ	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Serbia	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324674	PatK	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Germany	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	2	1	Johan den Dunnen
00324675	PatL	PubMed: Spentchian 2003, Journal: Spentchian 2003	-	-	-	Romania	-	-	-	-	-	HPP	infantile	ALPL	ALPL	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	ALPL	ALPL	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	ALPL	ALPL	2	2	Johan den Dunnen
00324691	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab June 2017	-	-	-	France	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324692	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2013	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324693	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov 2008	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324694	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324695	-	PubMed: Saglam 2017	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324696	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324697	-	PubMed: Saglam 2017	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	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	ALPL	ALPL	1	1	Johan den Dunnen
00324699	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab dec. 2014	-	-	-	France	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324700	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2009	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324701	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011	-	-	-	France	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324702	-	PubMed: Zhang 2012	-	-	-	-	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324703	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324704	-	PubMed: Balasubramaniam 2010	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324705	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Bone Metabolism Unit, IRCCS, Milano	-	-	-	Italy	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324706	HPP35	PubMed: Riancho-Zarrabeitia 2016	-	-	-	Spain	-	-	-	-	-	HPP	asymtomatic or very mild symptoms	ALPL	ALPL	1	1	Johan den Dunnen
00324707	-	PubMed: Mao 2019	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324708	-	PubMed: Taillandier 2000	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324709	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324710	Na1	PubMed: Mornet 1998	-	-	-	Turkey	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324711	-	PubMed: Weiss 1988	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324712	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324713	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2004	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324714	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab april 2009	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324715	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec 2011	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324716	-	PubMed: Saraff 2016	-	-	-	-	-	-	-	-	-	HPP	asymptomatic	ALPL	ALPL	1	1	Johan den Dunnen
00324717	-	PubMed: Brun-Heath 2005	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324718	-	PubMed: Taillandier 1999	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324719	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jun 2010	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324720	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003	-	-	-	France	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324721	-	PubMed: Taillandier 1999	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324722	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2008	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324723	-	PubMed: Brun-Heath 2005	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324724	Ly1	PubMed: Mornet 1998	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324725	-	PubMed: Greenberg 1993	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324726	-	PubMed: Mornet 2001	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324727	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324728	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2020	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324729	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324730	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Glaser	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324731	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab jan. 2007	-	-	-	France	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324732	-	PubMed: Zhang 2012	-	-	-	-	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324733	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011	-	-	-	France	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324734	-	PubMed: Taillandier 1999	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324735	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	perinatal survival	ALPL	ALPL	1	1	Johan den Dunnen
00324736	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2013	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324737	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324738	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab jan. 2007	-	-	-	France	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324739	-	PubMed: Mornet 2001	-	-	-	-	-	-	-	-	-	HPP	perinatal	ALPL	ALPL	1	1	Johan den Dunnen
00324740	-	PubMed: Michigami 2020	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324741	-	PubMed: Michigami 2020	-	-	-	-	-	-	-	-	-	HPP	perinatal severe	ALPL	ALPL	1	1	Johan den Dunnen
00324743	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Feb. 2019	-	-	-	France	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324744	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec. 2017	-	-	-	France	-	-	-	-	-	HPP	-	ALPL	ALPL	1	1	Johan den Dunnen
00324745	-	PubMed: McKiernan 2017	-	-	-	-	-	-	-	-	-	HPP	asymptomatic	ALPL	ALPL	1	1	Johan den Dunnen
00324746	-	PubMed: Whyte 2015	-	-	-	-	-	-	-	-	-	HPP	childhood	ALPL	ALPL	1	1	Johan den Dunnen
00324747	-	PubMed: Whyte 2015	-	-	-	-	-	-	-	-	-	HPP	childhood	ALPL	ALPL	1	1	Johan den Dunnen
00324748	-	PubMed: Taillandier 2017	-	-	-	-	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324749	-	PubMed: Lia-Baldini 2001	-	-	-	-	-	-	-	-	-	HPP	infantile	ALPL	ALPL	1	1	Johan den Dunnen
00324750	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324751	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Lazarus, Royal Brisbane Women's Hospital, Herston, Australia	-	-	-	Australia	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324752	-	PubMed: del Angel 2020	-	-	-	-	-	-	-	-	-	HPP	odonto	ALPL	ALPL	1	1	Johan den Dunnen
00324753	-	PubMed: Tenorio 2017	-	-	-	-	-	-	-	-	-	HPP	childhood	ALPL	ALPL	1	1	Johan den Dunnen
00324754	-	PubMed: Reibel 2009	-	-	-	-	-	-	-	-	-	HPP	odonto	ALPL	ALPL	1	1	Johan den Dunnen
00324755	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2004	-	-	-	France	-	-	-	-	-	HPP	odonto	ALPL	ALPL	1	1	Johan den Dunnen
00324756	-	PubMed: Tenorio 2017	-	-	-	-	-	-	-	-	-	HPP	childhood	ALPL	ALPL	1	1	Johan den Dunnen
00324757	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database	-	-	-	-	-	-	-	-	-	HPP	-	ALPL	ALPL	1	1	Johan den Dunnen
00324758	-	copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Sept 2019	-	-	-	France	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen
00324759	-	PubMed: Seefried 2017	-	-	-	-	-	-	-	-	-	HPP	adult	ALPL	ALPL	1	1	Johan den Dunnen

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

Global Variome shared LOVD

QPCT (glutaminyl-peptide cyclotransferase)