Disease #02946 (THPM1 (thiopurines, poor metabolism of, type 1), OMIM:610460)

Official abbreviation	THPM1
Name	thiopurines, poor metabolism of, type 1
OMIM ID	610460
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	95
Phenotype entries for this disease	95
Associated with 1 gene	TPMT
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +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.

95 entries on 1 page. Showing entries 1 - 95.

Legend

How to query

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
00025516	-	PubMed: Lennard 2013	-	-	?	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	1	1	Johan den Dunnen
00025517	-	PubMed: Lennard 2013	-	-	?	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	1	1	Johan den Dunnen
00025518	-	PubMed: Lennard 2013	-	-	?	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	1	1	Johan den Dunnen
00025519	-	PubMed: Roberts 2014	2-generation family, father/son	M	?	New Zealand	-	-	-	-	-	THPM1	see paper; intermediate RBC TPMT activity	TPMT	TPMT	8	2	Johan den Dunnen
00025520	-	PubMed: Evans 1991	2-generation family, 1 affected	-	no	United States	-	-	-	-	-	THPM1	severe hematologic toxicity after oral mercaptopurine therapy for acute lymphoblastic leukemia	TPMT	TPMT	1	1	Johan den Dunnen
00025521	-	-	2-generation family, 1 affected, unaffected carrier parents	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025523	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025524	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025525	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	3	1	Johan den Dunnen
00025526	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025527	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025528	-	-	3-generation family, 3 affecteds	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	3	2	Johan den Dunnen
00025530	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025531	-	-	test of 248 African-American indidivuals	-	-	United States	African American	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	12	Johan den Dunnen
00025532	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025533	-	-	-	-	-	Spain	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025534	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025535	-	-	2-generation family, 1 affected, carrier parents reduced TPMT activity	-	-	Sweden	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025536	-	-	2-generation family, 1 affected, carrier parents reduced TPMT activity	-	-	Sweden	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025541	-	-	-	-	-	Morocco	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025542	-	-	-	-	-	Germany	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025543	-	-	-	-	-	Germany	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025544	-	-	-	-	-	Germany	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025547	-	-	2 affected sisters	-	-	Sweden	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	2	Johan den Dunnen
00025548	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025549	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025550	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025551	-	-	2-generation family, carrier father/2 siblings	-	-	China	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	3	Johan den Dunnen
00025552	-	-	-	-	-	Iran	-	-	-	-	-	THPM1	-	TPMT	TPMT	4	1	Johan den Dunnen
00025553	-	-	-	-	-	Thailand	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025554	-	-	2-generation family, 1 affected, reduced TPMT activity carrier parents	-	-	France	white	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025555	-	-	-	-	-	Sweden	Italian	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025556	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025565	-	-	1 affected	-	-	Poland	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025566	-	-	1 affected	-	-	Germany	-	-	-	-	-	THPM1	-	TPMT	TPMT	4	1	Johan den Dunnen
00025567	-	-	-	-	-	France	-	-	-	-	-	THPM1	-	TPMT	TPMT	4	1	Johan den Dunnen
00025568	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	2	Johan den Dunnen
00025570	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025572	-	-	-	-	-	France	-	-	-	-	-	THPM1	-	TPMT	TPMT	2	1	Johan den Dunnen
00025573	-	-	-	-	-	France	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025574	-	-	-	-	-	France	-	-	-	-	-	THPM1	-	TPMT	TPMT	4	1	Johan den Dunnen
00025575	-	-	-	-	-	France	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025576	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	5	Johan den Dunnen
00025577	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025578	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025581	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025582	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025583	-	-	-	-	-	Germany	-	-	-	-	-	THPM1	-	TPMT	TPMT	4	5	Johan den Dunnen
00025584	-	-	-	-	-	Germany	-	-	-	-	-	THPM1	-	TPMT	TPMT	3	2	Johan den Dunnen
00025585	-	-	111 cases in 1214 individuals	-	-	Germany	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	1	Johan den Dunnen
00025586	-	-	111 cases in 1214 individuals	-	-	Germany	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025587	-	-	111 cases in 1214 individuals	-	-	Germany	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025593	-	-	-	-	-	France	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025594	-	-	suspected TPMT carriers	-	no	United States	white	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	17	Johan den Dunnen
00025595	-	PubMed: McLeod 1993	1 affected	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	4	1	Johan den Dunnen
00025596	-	-	3 carriers with intermediate TPMT activity	-	-	-	white	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	3	Johan den Dunnen
00025603	-	-	analysis 6 cases	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	4	3	Johan den Dunnen
00025604	-	-	analysis 6 cases	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025605	-	-	analysis 6 cases	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	2	1	Johan den Dunnen
00025606	-	-	analysis 6 cases	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	3	1	Johan den Dunnen
00025608	-	-	analysis 21 ALL patients	-	-	United States	white	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	18	Johan den Dunnen
00025609	-	-	analysis 21 ALL patients	-	-	United States	white	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025610	-	-	analysis 21 ALL patients	-	-	United States	white	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025611	-	-	test of 248 African-American indidivuals	-	-	United States	African American	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	12	Johan den Dunnen
00025612	-	-	test of 248 African-American indidivuals	-	-	United States	African American	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	2	Johan den Dunnen
00025613	-	-	test of 248 African-American indidivuals	-	-	United States	African American	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	4	Johan den Dunnen
00025614	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	16	Johan den Dunnen
00025615	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	3	Johan den Dunnen
00025616	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	2	Johan den Dunnen
00025617	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025618	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025619	-	-	From 25 controls analysed	-	-	Norway	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	4	Johan den Dunnen
00025620	-	-	From 25 controls analysed	-	-	Norway	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025621	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025622	-	-	from 283 controls analysed	-	-	United States	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025623	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	4	Johan den Dunnen
00025624	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025625	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025626	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025627	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025628	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025629	-	-	from 21 controls analysed	-	-	Korea	-	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	1	Johan den Dunnen
00025630	-	-	3-generation family, 3 unaffected carriers	-	-	United States	white	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	1	3	Johan den Dunnen
00025631	-	-	3-generation family, 3 unaffected carriers	-	-	United States	white	-	-	-	-	THPM1	TPMT deficiency reduced	TPMT	TPMT	2	3	Johan den Dunnen
00025632	-	-	-	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	4	1	Johan den Dunnen
00025633	-	-	-	-	-	United States	white	-	-	-	-	THPM1	-	TPMT	TPMT	4	1	Johan den Dunnen
00025634	-	-	4 patients	-	-	-	white	-	-	-	-	THPM1	-	TPMT	TPMT	4	4	Johan den Dunnen
00025635	-	PubMed: Lee 2012	-	M	no	China	-	-	-	-	-	THPM1	recurrent pompholyx (hands/feet), diabetes, hypertension	TPMT	TPMT	1	1	Johan den Dunnen
00025907	-	PubMed: Lennard 2013	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	1	1	Johan den Dunnen
00025908	-	PubMed: Lennard 2013	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	1	1	Johan den Dunnen
00025909	-	PubMed: Lennard 2013	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	2	100	Johan den Dunnen
00025910	-	PubMed: Lennard 2013	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	1	17	Johan den Dunnen
00025911	-	PubMed: Lennard 2013	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	1	4	Johan den Dunnen
00025912	-	PubMed: Lennard 2013	-	-	-	(United Kingdom (Great Britain))	-	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	2	1	Johan den Dunnen
00025914	-	PubMed: Lennard 2013	-	-	-	United Kingdom (Great Britain)	white	-	-	-	-	THPM1	reduced TPMT activity	TPMT	TPMT	3	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD