All individuals with variants in gene KLKB1

22 entries on 1 page. Showing entries 1 - 22.
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00362008 Pat11AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - retinal disease - 1 1 LOVD
00362270 - Journal: Vincent 2024 A French family with compound heterozygous female proband has been shown as presenting a carboxypeptidase N deficiency with a decreased circulating kallikrein activity. F no France - - - - - CPN1D Probands presenting with chronic spontaneous urticaria and angioedema 1 3 Christian Drouet
00412443 - Journal: Biswas 2016 Genotyping 1,180 subjects revealed that the carriers of the F12-c.-4T>C and KLKB1-c.428G>A had a significant association with reduced levels of active plasma renin - - United States - - - - - Healthy/Control Healthy phenotype 1 1180 Christian Drouet
00412470 patient PubMed: Wynne Jones 2004, Journal: Jones 2004 First description of a kindred with demonstrated homozygous KLKB1 null allele M yes (United Kingdom (Great Britain)) - - - - - PKKD Abnormal bleeding presented with prolongation of the activated partial thromboplastin time (aPTT) 1 1 Christian Drouet
00412471 FamPatII7 PubMed: Katsuda 2007, Journal: Katsuda 2007 3-generation family, 3 affected (2F, M), unaffected carrier parents/relatives; first cases involving substitutions in the heavy chain of PK which affects blood coagulation M yes Japan - - - - - PKKD Proband presenting with an extremely prolonged K-APTT in a complete coagulation evaluation for hemostasis screening before surgery for a skin tumour 3 3 Christian Drouet
00412495 FamPatIV1/5 PubMed: Shigekiyo 2003, Journal: Shigekiyo 2003 5-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives M yes Japan - - - - - PKKD Prolonged coagulation time during hemostasis screening before surgery for sinusitis 1 2 Christian Drouet
00412585 - Journal: Gianni 2017 C1-INH-HAE patients have been included (n=249), for investigation of c.428G>A SNP association with clinical descriptors of HAE severity - - - - - - - - HAE1;HAE2 HAE severity marker with reduced age at disease onset 1 185 Christian Drouet
00412586 - PubMed: Barco 2020, Journal: Barco 2020 - F - Ghana - - - - - PKKD A routine coagulation testing displayed aPTT prolongation, normal activity of coagulation factors, absence of heparinemia and lupus anticoagulant, quasi-normalization of aPTT with increasing pre-incubation time and PK:C and PK:Ag<1% each 1 1 Christian Drouet
00412591 Pat22 PubMed: Barco 2020, Journal: Barco 2020 - M no Germany - - - - - PKKD Isolated aPTT prolongation, normal coagulation factor activities were with no heparinemia and lupus anticoagulant. PK:C <1%, PK:Ag 10%, normal HK:C and HK:Ag 1 1 Christian Drouet
00412592 - PubMed: Barco 2020, Journal: Barco 2020 - M - Somalia - - - - - PKKD - 2 1 Christian Drouet
00412593 - PubMed: Barco 2020, Journal: Barco 2020 - M - Somalia - - - - - PKKD In a outine coagulation testing diagnosis of a severe PK deficiency based on aPTT prolongation, normal activity of coagulation factors except for FXII:C (39%-50%), neither heparinemia nor lupus anticoagulant, decreasing aPTT with increasing pre-incubation time, and <1% for PK:C and PK:Ag 1 1 Christian Drouet
00412594 - Journal: Shahverdi 2017 - F no Iran - - - - - PKKD Combined PK deficiency and Bernard Soulier, proband presenting with recurrent epistaxis 1 1 Christian Drouet
00412596 - Journal: Girolami 2010 - M no Argentina Italian background - - - - PKKD Prolonged aPTT, normal PT and TT. Prolonged aPTT fully corrected by adding normal plasma, serum, plasma deficient in FXI, FXII, or HMWK 2 4 Christian Drouet
00412789 Pat8 PubMed: Barco 2020, Journal: Barco 2020 - M - Germany - - - - - PKKD Proband presenting with a decreased aPTT and normal activity of coagulation factors 2 1 Christian Drouet
00412790 - PubMed: Barco 2020, Journal: Barco 2020 No personal or familial history of bleeding or thrombotic events Variant also found on daughter's and son's samples M no Switzerland - - - - - PKKD Proband presenting with prolonged aPTT, aPTT shortening after prolonged pre-incubation, PK:C 5%, and PK:Ag 2% 1 3 Christian Drouet
00412901 patient PubMed: Maak 2009, Journal: Maak 2009 2-generation family, 2 affected brothers, unaffected heterozygous parents M no Switzerland - - - - - PKKD Prolonged aPTT without any history of bleeding symptoms: 96 s (reference range: 24–36 s); the family history negative for bleeding or thrombotic events. Normal prothrombin time and thrombin time. 2 2 Christian Drouet
00412902 - PubMed: Dasanu 2009, Journal: Dasanu 2009 - F - Jamaica - - - - - PKKD Proband presenting with a severe bleeding diathesis, with a low level of plasma prekallikrein activity; severity and recurrence of mucosal bleeding appeared late in life. 1 1 Christian Drouet
00412929 - Journal: Dasgupta 2020 - M - United States - - - - - PKKD Proband presenting with a iatrogenic oropharyngeal angioedema associated with an ACE inhibitor with complete absence of plasma prekallikrein 1 1 Christian Drouet
00412950 patient PubMed: Abraham 2022, Journal: Abraham 2022 - M no India - - - - - PKKD proband presenting with a markedly prolonged aPTT (159 s ; control 27–34 s), with normal prothrombin time, thrombin time, fibrinogen level and platelet count. 1 1 Christian Drouet
00412951 - PubMed: Francois 2009, Journal: Francois 2007 - F no France - - - - - PKKD Proband presenting with a second-trimester pregnancy loss, with a prolonged aPTT. 1 1 Christian Drouet
00435257 patient PubMed: Ryu 2019, Journal: Ryu 2019 - M - Korea - - - - - PKKD Proband presenting with a decreased aPTT and normal activity of coagulation factors 2 1 Christian Drouet
00435258 patient PubMed: Lombardi 2003, Journal: Lombardi 2003 2-generation family, 1 affected, carrier parents slightly low prekallikrein level M no Italy - - - - - PKKD see paper; ... 2 1 Johan den Dunnen
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