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

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 »

AscendingIndividual 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
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.