Disease #05701 (HPP (hypophosphatasia (HPP)))

Official abbreviation HPP
Name hypophosphatasia (HPP)
OMIM ID -
Inheritance Autosomal dominant, Autosomal recessive
Individuals reported having this disease 617
Phenotype entries for this disease 617
Associated with 1 gene ALPL
Associated tissues -
Disease features -
Remarks -


Individuals

617 entries on 7 pages. Showing entries 1 - 100.
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00324546 Pat7 PubMed: Spentchian 2006 - - - Portugal - - 0 - - HPP perinatal; asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom ALPL ALPL 1 1 Johan den Dunnen
00324547 patient PubMed: Hacihamdioglu 2018 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Turkey - - 0 - - HPP see paper; ..., perinatal ALPL ALPL 1 1 Johan den Dunnen
00324549 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, H Mateus, Alexion Pharmaceuticals (USA) - - - United States - - 0 - - HPP infantile ALPL ALPL 2 1 Johan den Dunnen
00324550 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2013 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324551 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab - - - France - - 0 - - HPP infantile ALPL ALPL 2 1 Johan den Dunnen
00324552 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab July 2012 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324553 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec. 2015 - - - France - - 0 - - HPP prenatal, asymptomatic, repeatedly low serum alkaline phosphatase, no hypophosphatasia clinical symptom ALPL ALPL 2 1 Johan den Dunnen
00324554 Pat8 PubMed: Spentchian 2006 - - - Germany - - 0 - - HPP infantile ALPL ALPL 2 1 Johan den Dunnen
00324555 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov. 2018 - - - France - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324556 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, I Rau, Hamburg, Germany - - - Germany - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324557 patient copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab April 2018 - - - France - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324558 - PubMed: Whyte 2015 - - - United States - - 0 - - HPP odonto ALPL ALPL 1 2 Johan den Dunnen
00324559 - PubMed: Whyte 2015 - - - United States - - 0 - - HPP odonto ALPL ALPL 1 1 Johan den Dunnen
00324647 Pat1 PubMed: Spentchian 2006 - - - Czech Republic - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324648 Pat2 PubMed: Spentchian 2006 - - - England - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324649 Pat3 PubMed: Spentchian 2006 - - - Netherlands - - 0 - - HPP adult ALPL ALPL 2 1 Johan den Dunnen
00324650 Pat4 PubMed: Spentchian 2006 - - - Turkey - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324651 Pat5 PubMed: Spentchian 2006 - - - Germany - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324652 Pat6 PubMed: Spentchian 2006 - - - England - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324665 PatA PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Turkey - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324666 PatB PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - United States - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324667 PatC PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Turkey - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324668 PatD PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Sweden - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324669 PatE PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Pakistan - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324670 PatF PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Croatia (Hrvatska) - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324671 PatG PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Lebanon - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324672 PatH PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - England - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324673 PatJ PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Serbia - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324674 PatK PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Germany - - 0 - - HPP perinatal ALPL ALPL 2 1 Johan den Dunnen
00324675 PatL PubMed: Spentchian 2003, Journal: Spentchian 2003 - - - Romania - - 0 - - HPP infantile ALPL ALPL 2 1 Johan den Dunnen
00324687 patient PubMed: Mentrup 2016 2-generation family, 1 affected unaffected heterozygous carrier parents M yes Germany Turkey - 0 - - HPP see paper; ..., infantile ALPL ALPL 6 1 Johan den Dunnen
00324688 twins PubMed: Martins 2013 3-generation family, affected twin brothers, unaffected heterozygous carrier parents M - Brazil - - 0 - - HPP see paper; ..., odonto ALPL ALPL 2 2 Johan den Dunnen
00324691 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab June 2017 - - - France - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324692 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab March 2013 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324693 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Nov 2008 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324694 - PubMed: del Angel 2020 - - - - - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324695 - PubMed: Saglam 2017 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324696 - PubMed: del Angel 2020 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324697 - PubMed: Saglam 2017 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324698 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Brugger and T. Brown (Alexion) - - - - - - 0 - - HPP mild form, low AP and unspecific symptoms ALPL ALPL 1 1 Johan den Dunnen
00324699 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab dec. 2014 - - - France - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324700 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2009 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324701 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - - France - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324702 - PubMed: Zhang 2012 - - - - - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324703 - PubMed: del Angel 2020 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324704 - PubMed: Balasubramaniam 2010 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324705 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Bone Metabolism Unit, IRCCS, Milano - - - Italy - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324706 HPP35 PubMed: Riancho-Zarrabeitia 2016 - - - Spain - - 0 - - HPP asymtomatic or very mild symptoms ALPL ALPL 1 1 Johan den Dunnen
00324707 - PubMed: Mao 2019 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324708 - PubMed: Taillandier 2000 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324709 - PubMed: del Angel 2020 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324710 Na1 PubMed: Mornet 1998 - - - Turkey - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324711 - PubMed: Weiss 1988 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324712 - PubMed: del Angel 2020 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324713 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2004 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324714 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab april 2009 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324715 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec 2011 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324716 - PubMed: Saraff 2016 - - - - - - 0 - - HPP asymptomatic ALPL ALPL 1 1 Johan den Dunnen
00324717 - PubMed: Brun-Heath 2005 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324718 - PubMed: Taillandier 1999 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324719 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jun 2010 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324720 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2003 - - - France - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324721 - PubMed: Taillandier 1999 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324722 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jul 2008 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324723 - PubMed: Brun-Heath 2005 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324724 Ly1 PubMed: Mornet 1998 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324725 - PubMed: Greenberg 1993 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324726 - PubMed: Mornet 2001 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324727 - PubMed: del Angel 2020 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324728 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2020 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324729 - PubMed: del Angel 2020 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324730 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Glaser - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324731 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab jan. 2007 - - - France - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324732 - PubMed: Zhang 2012 - - - - - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324733 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Apr 2011 - - - France - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324734 - PubMed: Taillandier 1999 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324735 - PubMed: del Angel 2020 - - - - - - 0 - - HPP perinatal survival ALPL ALPL 1 1 Johan den Dunnen
00324736 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Jan 2013 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324737 - PubMed: del Angel 2020 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324738 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab jan. 2007 - - - France - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324739 - PubMed: Mornet 2001 - - - - - - 0 - - HPP perinatal ALPL ALPL 1 1 Johan den Dunnen
00324740 - PubMed: Michigami 2020 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324741 - PubMed: Michigami 2020 - - - - - - 0 - - HPP perinatal severe ALPL ALPL 1 1 Johan den Dunnen
00324743 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Feb. 2019 - - - France - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324744 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Dec. 2017 - - - France - - 0 - - HPP - ALPL ALPL 1 1 Johan den Dunnen
00324745 - PubMed: McKiernan 2017 - - - - - - 0 - - HPP asymptomatic ALPL ALPL 1 1 Johan den Dunnen
00324746 - PubMed: Whyte 2015 - - - - - - 0 - - HPP childhood ALPL ALPL 1 1 Johan den Dunnen
00324747 - PubMed: Whyte 2015 - - - - - - 0 - - HPP childhood ALPL ALPL 1 1 Johan den Dunnen
00324748 - PubMed: Taillandier 2017 - - - - - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324749 - PubMed: Lia-Baldini 2001 - - - - - - 0 - - HPP infantile ALPL ALPL 1 1 Johan den Dunnen
00324750 - PubMed: del Angel 2020 - - - - - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324751 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, S. Lazarus, Royal Brisbane Women's Hospital, Herston, Australia - - - Australia - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324752 - PubMed: del Angel 2020 - - - - - - 0 - - HPP odonto ALPL ALPL 1 1 Johan den Dunnen
00324753 - PubMed: Tenorio 2017 - - - - - - 0 - - HPP childhood ALPL ALPL 1 1 Johan den Dunnen
00324754 - PubMed: Reibel 2009 - - - - - - 0 - - HPP odonto ALPL ALPL 1 1 Johan den Dunnen
00324755 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Oct. 2004 - - - France - - 0 - - HPP odonto ALPL ALPL 1 1 Johan den Dunnen
00324756 - PubMed: Tenorio 2017 - - - - - - 0 - - HPP childhood ALPL ALPL 1 1 Johan den Dunnen
00324757 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database - - - - - - 0 - - HPP - ALPL ALPL 1 1 Johan den Dunnen
00324758 - copied from Tissue Nonspecific Alkaline Phosphatase Gene Mutations Database, Versailles lab Sept 2019 - - - France - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
00324759 - PubMed: Seefried 2017 - - - - - - 0 - - HPP adult ALPL ALPL 1 1 Johan den Dunnen
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