Disease #03138 (PKKD (prekallikrein (Fletcher factor) deficiency), OMIM:612423)

Official abbreviation PKKD
Name prekallikrein (Fletcher factor) deficiency
OMIM ID 612423
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 18
Phenotype entries for this disease 17
Associated with 1 gene KLKB1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2023-06-26 16:36:45 +02:00 (CEST)


Individuals

18 entries on 1 page. Showing entries 1 - 18.
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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) KLKB1 KLKB1 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 KLKB1 KLKB1 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 KLKB1 KLKB1 1 2 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 KLKB1 KLKB1 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 KLKB1 KLKB1 1 1 Christian Drouet
00412592 - PubMed: Barco 2020, Journal: Barco 2020 - M - Somalia - - - - - PKKD - KLKB1 KLKB1 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 KLKB1 KLKB1 1 1 Christian Drouet
00412594 - Journal: Shahverdi 2017 - F no Iran - - - - - PKKD Combined PK deficiency and Bernard Soulier, proband presenting with recurrent epistaxis KLKB1 KLKB1 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 KLKB1 KLKB1 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 KLKB1 KLKB1 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% KLKB1 KLKB1 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. KLKB1 KLKB1 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. KLKB1 KLKB1 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 KLKB1 KLKB1 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. KLKB1 KLKB1 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. KLKB1 KLKB1 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 KLKB1 KLKB1 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; ... KLKB1 KLKB1 2 1 Johan den Dunnen
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