Disease #03389 (HYPOPROTHROMBINEMIA (deficiency, prothrombin (hypoprothrombinemia, dysprothrombinaemia)), OMIM:613679)

Official abbreviation HYPOPROTHROMBINEMIA
Name deficiency, prothrombin (hypoprothrombinemia, dysprothrombinaemia)
OMIM ID 613679
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 51
Phenotype entries for this disease 51
Associated with 1 gene F2
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

51 entries on 1 page. Showing entries 1 - 51.
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00104585 22392504-Pat PubMed: Kulkarni 2012, Journal: Kulkarni 2012 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Nepal - - - - - HYPOPROTHROMBINEMIA see paper; ..., since birth episodes of bleeding ranging from hematemesis, umbilical stump bleed, right-sided subdural hematoma; coagulation tests showed consistently deranged prothrombin time (PT), activated partial thromboplastin time (APTT) F2 F2 1 1 Johan den Dunnen
00165481 10354128-Pat? PubMed: Akhavan 1999 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165482 10627484-Pat? PubMed: Sun 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165483 10651742-Pat? PubMed: Lefkowitz 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165484 10651742-Pat? PubMed: Lefkowitz 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165485 10706027-Pat? PubMed: Strijks 1999 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165486 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165487 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165488 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165489 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165490 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165491 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165492 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165493 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165494 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165495 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165496 11154146-Pat? PubMed: Akhavan 2000 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165497 11341500-Pat? PubMed: Sun 2001 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165500 11858488-Pat? PubMed: Sekine 2002 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165502 12492590-Pat? PubMed: Akhavan 2003 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165503 12492590-Pat? PubMed: Akhavan 2003 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165504 1334372-Pat? PubMed: Iwahana 1992 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165505 1421398-Pat? PubMed: Morishita 1992 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165506 1421398-Pat? PubMed: Morishita 1992 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165507 14575584-Pat? PubMed: Wang 2003 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165508 14629473-Pat? PubMed: Lefkowitz 2003 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165509 14629473-Pat? PubMed: Lefkowitz 2003 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165510 14629473-Pat? PubMed: Lefkowitz 2003 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165511 14629473-Pat? PubMed: Lefkowitz 2003 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165513 15892853-Pat? PubMed: Jayandharan 2005 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165514 16487178-Pat? PubMed: Rouy 2006 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165515 16503555-Pat? PubMed: Francois 2006 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165516 16543981-Pat? PubMed: Stanchev 2006 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165517 16543981-Pat? PubMed: Stanchev 2006 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165518 17002658-Pat? PubMed: Wong 2006 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165520 18852482-Pat? PubMed: Girolami 2008 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165521 21692854-Pat? PubMed: Pasmant 2011 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165522 3771562-Pat? PubMed: Rabiet 1986 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165523 6405779-Pat? PubMed: Board 1983 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165524 7740448-Pat? PubMed: Poort 1994 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165525 7792730-Pat? PubMed: Degen 1995 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165526 7865694-Pat? PubMed: James 1994 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165527 8839854-Pat? PubMed: O'Marcaigh 1996 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165528 8839854-Pat? PubMed: O'Marcaigh 1996 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165530 9134629-Pat? PubMed: Poort 1997 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165531 9134629-Pat? PubMed: Poort 1997 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165532 9351523-Pat? PubMed: Tamary 1997 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165533 9351523-Pat? PubMed: Tamary 1997 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165534 9490687-Pat? PubMed: Henriksen 1998 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165535 9890721-Pat? PubMed: Poort 1998 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
00165536 9890721-Pat? PubMed: Poort 1998 - - - - - - - - - HYPOPROTHROMBINEMIA - F2 F2 1 1 Johan den Dunnen
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