Global Variome shared LOVD
DPYD (dihydropyrimidine dehydrogenase)
LOVD v.3.0 Build 27 [
Current LOVD status
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Curator:
Global Variome, with Curator vacancy
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View all transcripts of gene DPYD
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View all variants affecting transcripts
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View all variants in gene DPYD
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View all individuals with variants in gene DPYD
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View all diseases associated with gene DPYD
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View available phenotype columns
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View all screenings for gene DPYD
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All individuals with variants in gene DPYD
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.
119 entries on 2 pages. Showing entries 1 - 100.
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Legend
How to query
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Individual ID
ID_report
Reference
Remarks
Gender
Consanguinity
Country
Population
Age at death
VIP
Data_av
Treatment
Disease
Phenotype details
Variants
Panel size
Owner
00000003
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000004
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000011
NA04364
PubMed: Bell 2011
-
M
-
-
-
-
0
-
-
autism, BMD/DMD, CF, deafness
-
1
1
Global Variome, with Curator vacancy
00000012
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
autism, BMD/DMD
-
1
1
Global Variome, with Curator vacancy
00000014
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
autism, BMD/DMD
-
2
1
Global Variome, with Curator vacancy
00000015
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
autism, BMD/DMD
-
1
1
Global Variome, with Curator vacancy
00000016
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
autism, BMD/DMD
-
1
1
Global Variome, with Curator vacancy
00000017
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
autism, BMD/DMD
-
1
1
Global Variome, with Curator vacancy
00000018
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
autism, BMD/DMD
-
1
1
Global Variome, with Curator vacancy
00000022
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
BMD/DMD
-
1
1
Global Variome, with Curator vacancy
00000023
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
BMD/DMD
-
2
1
Global Variome, with Curator vacancy
00000024
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
BMD/DMD
-
1
1
Global Variome, with Curator vacancy
00000027
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000031
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000033
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000034
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000035
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000036
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000037
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000038
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
epilepsy
-
1
1
Global Variome, with Curator vacancy
00000039
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
ADPKD
-
1
1
Global Variome, with Curator vacancy
00000040
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000041
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000042
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000043
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000044
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000045
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000046
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000047
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000048
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000049
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000050
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000051
-
PubMed: Bell 2011
-
-
-
-
-
-
0
-
-
-
-
2
1
Global Variome, with Curator vacancy
00000052
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000053
-
PubMed: Bell 2011
JPT/HAN‐HapMap sample
F
-
-
-
-
0
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000054
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
ABL
see paper; …
1
1
Global Variome, with Curator vacancy
00000055
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000056
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00000057
-
PubMed: Bell 2011
-
-
-
-
-
-
-
-
-
-
-
1
1
Global Variome, with Curator vacancy
00017040
-
-
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DMBup
no activity
2
1
Johan den Dunnen
00017041
-
-
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DMBup
no activity
2
1
Johan den Dunnen
00017042
-
-
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
-
-
2
1
Johan den Dunnen
00017044
private email
-
-
?
?
United States
-
-
0
-
-
-
-
3
1
Johan den Dunnen
00017570
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DPDD
-
1
1
Johan den Dunnen
00017571
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
Healthy/Control
-
1
1
Johan den Dunnen
00017572
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DPDD
-
1
1
Johan den Dunnen
00017573
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DPDD
-
1
1
Johan den Dunnen
00017574
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
Healthy/Control
-
2
1
Johan den Dunnen
00017575
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DPDD
-
2
1
Johan den Dunnen
00017576
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DPDD
-
2
1
Johan den Dunnen
00017577
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DPDD
-
1
1
Johan den Dunnen
00017583
-
PubMed: Mattison 2002
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
-
-
1
1
Johan den Dunnen
00017584
-
PubMed: Mattison 2002
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
-
-
2
1
Johan den Dunnen
00017585
-
PubMed: Johnson 2002
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
DMBup
no activity
1
1
Johan den Dunnen
00017586
-
PubMed: Diasio 1988
,
PubMed: Johnson 2002
4-generation family, 1 affected, 4 heterozygous carriers with partial DPDD
F
no
United States
-
-
0
-
-
DPDD
-
3
1
Johan den Dunnen
00017587
-
PubMed: Johnson 2002
husband of 11895907-FamPatII5
M
no
United States
-
-
0
-
-
Healthy/Control
-
3
1
Johan den Dunnen
00017588
-
PubMed: Johnson 2002
daugther of 11895907-FamPatII5/II6
F
no
United States
-
-
0
-
-
DPDD
partial deficiency
2
1
Johan den Dunnen
00017589
-
PubMed: Johnson 2002
son of 11895907-FamPatII5/II6
M
no
United States
-
-
0
-
-
DPDD
partial deficiency
2
1
Johan den Dunnen
00017590
-
PubMed: Johnson 2002
3 children of 11895907-FamPatIII6/III7 (F, 2M)
-
no
United States
-
-
0
-
-
Healthy/Control
-
1
3
Johan den Dunnen
00017591
-
PubMed: Johnson 1999
-
M
-
United States
white
>76y
0
-
5-fluorouracil (5-FU)
DPDD
carcinoma, basal cell; severe toxicity from 5-FU treatment
1
1
Johan den Dunnen
00017592
-
PubMed: Wei 1996
3-generation family, 10 affecteds (4F, 6M)
-
-
United Kingdom (Great Britain)
-
-
0
-
-
DPDD
partial deficiency, index case 5-FU toxicity from cancer treatment
1
10
Johan den Dunnen
00017593
-
PubMed: Vreken 1997
-
M
?
Netherlands
-
-
0
-
-
DPDD
8y-severe growth retardation (length <3rd centile), submitted to hospital for treatment of upper airway infection, hypokalaemia (2.5mmol/L), thymine-uraciluria, no convulsions or other neurological abnormalities
2
1
Johan den Dunnen
00017594
-
PubMed: Vreken 1997
2-generation family, parent first cousins
M
yes
Netherlands
-
-
0
-
-
DPDD
9m-febrile convulsions, severe neuromotor retardation, spastic tetraplegia, cerebral MRI ventriculomegaly with white-matter hypodensity microcephaly, growth retardation; 6y- thymine-uraciluria
1
1
Johan den Dunnen
00017595
-
PubMed: Vreken 1997
father of patient 09266349-PatAf
M
?
Netherlands
-
-
0
-
-
DPDD
-
1
1
Johan den Dunnen
00019541
-
PubMed: McLeod 1998
reference haplotype
-
-
- (not applicable)
-
-
0
-
-
-
-
1
1
Johan den Dunnen
00050527
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, affected and affected2nd degree relatives
M
-
United Kingdom (Great Britain)
-
-
0
Decipher
-
?
specific learning disability, precocious puberty
1
1
Johan den Dunnen
00050695
-
PubMed: DDDS 2015
,
Journal: DDDS 2015
family, 1 affected
F
-
United Kingdom (Great Britain)
-
-
0
Decipher
-
?
global developmental delay, generalized hypotonia, polyphagia, abnormal facial shape, astigmatism, constipation
1
1
Johan den Dunnen
00080174
-
PubMed: Linglart et al.2012
-
F
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, IUGR, cone-shaped epiphyses, advanced bone age
1
1
Francesca Marta Elli
00080176
-
PubMed: Linglart et al.2012
-
M
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily
1
1
Francesca Marta Elli
00080179
-
PubMed: Linglart et al.2012
-
F
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance
1
1
Francesca Marta Elli
00080180
-
PubMed: Linglart et al.2012
-
M
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advaned bone age
1
1
Francesca Marta Elli
00080691
-
PubMed: Linglart et al.2012
-
M
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA
1
1
Francesca Marta Elli
00080692
-
PubMed: Linglart et al.2012
-
F
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance
1
1
Francesca Marta Elli
00080693
-
PubMed: Linglart et al.2012
-
M
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age
1
1
Francesca Marta Elli
00080694
-
PubMed: Linglart et al.2012
-
F
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, FSH resistance
1
1
Francesca Marta Elli
00080695
-
PubMed: Linglart et al.2012
-
F
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, FSH resistance
1
1
Francesca Marta Elli
00080696
-
PubMed: Linglart et al.2012
-
F
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, advanced bone age, FSH resistance
1
1
Francesca Marta Elli
00080697
-
PubMed: Linglart et al.2012
-
M
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, advanced bone age, SGA
1
1
Francesca Marta Elli
00080698
-
PubMed: Linglart et al.2012
-
F
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, dysmorphic facies, brachydactily, cone-shaped epiphyses, SGA
1
1
Francesca Marta Elli
00080699
-
PubMed: Linglart et al.2012
-
M
?
- (not applicable)
-
-
0
-
-
ACRDYS1
PTH resistance, TSH resistance, short stature, obesity, dysmorphic facies, brachydactily, mental retardation, cone-shaped epiphyses, SGA
1
1
Francesca Marta Elli
00100341
-
NOT PUBLISHED
-
F
-
Spain
-
-
0
-
-
ACRDYS1
-
1
1
Arrate Pereda
00100342
-
NOT PUBLISHED
-
F
no
Morocco
-
-
0
-
-
ACRDYS1
-
1
1
Arrate Pereda
00101228
-
reference haplotype
-
-
-
-
-
-
0
-
-
DMBp
decreased activity
1
1
Johan den Dunnen
00106166
-
reference haplotype
-
-
-
-
-
-
0
-
-
DMBp
decreased activity
1
1
Johan den Dunnen
00155716
mother
PubMed: van Kuilenburg 2018
,
Journal: van Kuilenburg 2018
2-generation family, 3 affected, mother/son/daughter
M
-
Netherlands
-
-
0
-
-
DPDD
see paper; ..., healthy, history of gastrointestinal dysmotility, normal development, normal intellect, significant pregnancy-induced symptoms (severe abdominal pain, increased gastrointestinal symptoms, pancreatitis, intermittent changes in consciousness) in three consecutive pregnancies; 3rd pregnancy developed recurrent stroke-like episodes including symptoms of headaches, blurring to near loss of vision, and right hemiparesis
3
3
Maja Tarailo-Graovac
00184097
11004
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184112
13008
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184161
25005
IP3 project, submitted
-
M
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184168
25013
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184187
3014
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184194
3021
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184201
3029
IP3 project, submitted
-
M
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184220
41005
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184228
5003
IP3 project, submitted
-
M
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184229
5004
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184231
5006
IP3 project, submitted
-
M
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184245
6002
IP3 project, submitted
-
M
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184260
6017
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00184262
6019
IP3 project, submitted
-
F
no
Netherlands
white
-
0
-
-
Healthy/Control
-
1
1
Jesse Swen
00228661
patients
PubMed: Henricks 2018
-
F;M
-
Netherlands
-
-
0
-
-
DMBi
-
1
51
Johan den Dunnen
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