Disease #02045 (pyr.kin. deficiency (pyruvate kinase deficiency), OMIM:266200)

Official abbreviation	pyr.kin. deficiency
Name	pyruvate kinase deficiency
OMIM ID	266200
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	770
Phenotype entries for this disease	327
Associated with 1 gene	PKLR
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2022-02-17 09:10:02 +01:00 (CET)

Individuals

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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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
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Armenia
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Aruba
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Australia
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Austria
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Azerbaijan
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Bahamas
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Bahrain
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Bangladesh
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Barbados
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Belarus
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Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
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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
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Dominica
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Dominican Republic
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East Timor
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Ecuador
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Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
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Eritrea
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Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
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Gambia
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Georgia
(Georgia)
Germany
(Germany)
Ghana
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Gibraltar
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Greece
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Greenland
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Grenada
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Guadeloupe
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Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
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Haiti
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Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
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Hong Kong
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Hungary
(Hungary)
Iceland
(Iceland)
India
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Indonesia
(Indonesia)
Iran
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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
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Lebanon
(Lebanon)
Lesotho
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Liberia
(Liberia)
Libya
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Liechtenstein
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Lithuania
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Luxembourg
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Macau
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Macedonia
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Madagascar
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Malawi
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Malaysia
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Maldives
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Mali
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Malta
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Marshall Islands
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Martinique
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Mauritania
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Mauritius
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Mayotte
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Mexico
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Micronesia
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Moldova
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Monaco
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Mongolia
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Montserrat
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Morocco
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Mozambique
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Myanmar
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Namibia
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Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
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Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
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New Zealand
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Nicaragua
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Niger
(Niger)
Nigeria
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Niue
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Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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Panama
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Papua New Guinea
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Paraguay
(Paraguay)
Peru
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Philippines
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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.

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Operator	Column type	Example	Matches
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=""	Text	="p.0"	all entries exactly matching 'p.0'
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!=""	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
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>=	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'

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770 entries on 8 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3	4	5	6	7	8		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
00217266	11668614-KI115	PubMed: Indo 2001	-	M	-	United States	Mexico	-	-	-	-	CIPA, pyr.kin. deficiency	pyruvate kinase deficiency	NTRK1	NTRK1, PKLR	2	1	Peikuan Cong
00228901	Pat1	PubMed: Van Wijk 2003	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Denmark	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	4	1	Richard van Wijk
00228905	Fam4	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228906	-	-	-	-	-	Spain	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228907	Fam54	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228908	-	-	-	-	-	Germany	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228909	patient	PubMed: Marcello 2008	-	M	-	Italy	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228910	Pat3	PubMed: Manco 2000	-	M	-	Portugal	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228911	Pat4	PubMed: Manco 2000	-	F	-	Portugal	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228912	Pat1	PubMed: Manco 2000	-	M	-	Portugal	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228913	Pat2	PubMed: Manco 2000	-	M	-	Portugal	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228914	-	-	-	-	-	Portugal	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228915	Pat19	PubMed: Fermo 2005	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	mild/moderate	PKLR	PKLR	1	1	Richard van Wijk
00228916	Pat10	PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995	-	-	-	United States	African American	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228917	Pat16	PubMed: Baronciani and Beutler 1995	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228918	PP	PubMed: Zanella 1997	-	F	-	Italy	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228919	SI	PubMed: Zanella 1997	-	F	-	Italy	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228920	RGC	PubMed: Zanella 1997	-	M	-	Italy	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228921	MC	PubMed: Zanella 1997	-	F	-	Italy	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228922	Pat3	PubMed: Zanella 2001	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	mild	PKLR	PKLR	1	1	Richard van Wijk
00228923	Pat6	PubMed: Zanella 2001	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	mild	PKLR	PKLR	1	1	Richard van Wijk
00228924	Pat7	PubMed: Zanella 2001	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	mild	PKLR	PKLR	1	1	Richard van Wijk
00228925	Pat12	PubMed: Zanella 2001	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	severe	PKLR	PKLR	1	1	Richard van Wijk
00228926	Pat7	PubMed: Fermo 2005	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	severe	PKLR	PKLR	1	1	Richard van Wijk
00228927	Pat11;Pat25	PubMed: Fermo 2005, PubMed: Zanella 2007	-	F	-	United Kingdom (Great Britain)	-	-	-	-	-	pyr.kin. deficiency	severe	PKLR	PKLR	1	1	Richard van Wijk
00228928	Pat22	PubMed: Fermo 2005	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	mild/moderate	PKLR	PKLR	1	1	Richard van Wijk
00228929	Fam39	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228930	Fam40	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228931	Fam41	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228932	Fam42	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228933	Fam43	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	favism, pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228935	Fam45	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228936	Fam46	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228937	Fam47	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	favism, pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228938	Fam48	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228939	Fam49	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228940	Fam50	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228941	Fam51	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228942	Fam52	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228943	Fam53	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228944	Fam55	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228945	Fam56	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228946	Pat8;Pat8	PubMed: Lenzner 1994, PubMed: Lenzner 1997	-	-	-	Czech Republic	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228949	Pat23	PubMed: Van Wijk 2009	-	M	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228950	-	Kanno 1994 Blood 84 (Suppl:13a), PubMed: Baronciani 1996	-	-	-	Japan	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228951	-	-	-	-	-	China	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228952	Pat26	PubMed: Van Wijk 2009	2-generation family, 2 affected sisters	F	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	2	Richard van Wijk
00228953	-	-	-	-	-	Iran	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228954	Pat1	PubMed: Kugler 2000	-	F	-	Germany	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228955	Pat30	PubMed: Van Wijk 2009	-	M	-	Czech Republic	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228956	patient	PubMed: Uenaka 1995	-	M	-	Japan	-	-	-	-	-	pyr.kin. deficiency	hemolytic anemia	PKLR	PKLR	2	1	Richard van Wijk
00228957	Pat2	PubMed: Kugler 2000	-	F	-	Germany	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228958	-	-	-	-	-	Italy	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228959	Pat12; Pat5	PubMed: Fermo 2005, PubMed: Zanella 2007	-	M	-	Oman	-	-	-	-	-	pyr.kin. deficiency	severe	PKLR	PKLR	1	1	Richard van Wijk
00228960	Pat4	PubMed: Van Wijk 2009	2-generation family, 2 affected sisters	F	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	3	2	Richard van Wijk
00228961	Pat2;Pat17	PubMed: Fermo 2005, PubMed: Zanella 2007	-	F	-	Italy	-	-	-	-	-	pyr.kin. deficiency	severe	PKLR	PKLR	2	1	Richard van Wijk
00228962	-	-	-	-	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228963	-	-	-	-	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228964	Pat6;Pat4	PubMed: Fermo 2005, PubMed: Zanella 2007	-	M	-	Australia	-	-	-	-	-	pyr.kin. deficiency	severe	PKLR	PKLR	2	1	Richard van Wijk
00228965	-	-	-	-	-	China	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228966	DM;Pat1	PubMed: Zanella 1997, PubMed: Zanella 2007	-	M	-	Italy	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228967	PatAomori	PubMed: Kanno 1997	-	F	-	Japan	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228968	Fam16	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228969	Fam1	PubMed: Costa 2005	3-generation family	-	-	Viet Nam	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228970	Pat14	PubMed: Baronciani and Beutler 1995	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	3	1	Richard van Wijk
00228971	Pat6	PubMed: Beutler 2000	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228972	Pat1	PubMed: Baronciani 1995	-	-	-	United States	African American	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228973	Pat1	PubMed: Beutler 2000	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228974	Pat6	PubMed: Van Wijk 2009	-	M	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228975	Pat5	PubMed: Van Wijk 2009	sister	F	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228976	Pat2	PubMed: Rouger 1996	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228977	Fam5	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228978	Fam36	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	3	1	Richard van Wijk
00228979	Pat1	PubMed: Rouger 1996	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228980	-	-	-	-	-	Spain	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228981	Pat3	PubMed: Kugler 2000	-	M	-	Germany	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228982	Fam11	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228983	Fam14	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228984	Fam23	PubMed: Pissard 2006	-	-	-	France	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	3	1	Richard van Wijk
00228985	Pat4	PubMed: Pissard 2007	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	France	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	3	1	Richard van Wijk
00228986	-	-	-	-	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228987	FamPatDG	PubMed: Neubauer 1991	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	yes	Turkey	-	-	-	-	-	pyr.kin. deficiency	hemolytic anemia	PKLR	PKLR	1	1	Richard van Wijk
00228989	patient	PubMed: Cohen-Solal 1998	-	F	-	Guinea	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228990	Pat12	PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228991	Pat10;Pat7	PubMed: Baronciani 1995, PubMed: Percy 2007	-	-	-	Ireland	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228992	Pat8	PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228993	-	-	-	-	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228994	-	-	-	-	-	(Denmark)	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228995	-	-	-	-	-	Netherlands	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00228996	Pat3	PubMed: Beutler 2000	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228997	Pat16	PubMed: Van Wijk 2009	-	F	-	Denmark	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228998	Pat19	PubMed: Van Wijk 2009	-	F	-	Finland	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00228999	Pat13;Pat24	PubMed: Fermo 2005, PubMed: Zanella 2007	-	F	-	Pakistan	-	-	-	-	-	pyr.kin. deficiency	severe	PKLR	PKLR	2	1	Richard van Wijk
00229000	SR	PubMed: Kedar 2009	-	-	-	India	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00229001	-	-	-	-	-	Japan	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00229003	Pat24	PubMed: Van Wijk 2009	-	F	-	Czech Republic	-	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk
00229004	Pat5	PubMed: Baronciani 1993, PubMed: Baronciani and Beutler 1995	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00229005	Pat1	PubMed: Demina 1998	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00229006	Pat13	PubMed: Beutler 2000	-	-	-	United States	white	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	2	1	Richard van Wijk
00229007	FamPatMO	PubMed: Neubauer 1991	2-generation family, 1 affected, unaffected heterozygous carrier parents	-	-	Lebanon	Turkish	-	-	-	-	pyr.kin. deficiency	-	PKLR	PKLR	1	1	Richard van Wijk

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Global Variome shared LOVD

DGCR6 (DiGeorge syndrome critical region gene 6)