Disease #01822

Official abbreviation GSD-2
Name storage disease, glycogen, type II (GSD-2, Pompe disease)
OMIM ID 232300
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 906
Phenotype entries for this disease 845
Associated with 1 gene GAA
Associated tissues -
Disease features -
Remarks -


Individuals

906 entries on 10 pages. Showing entries 1 - 100.
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00100967 ? PubMed: Kostera-Pruszczyk 2006 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00100978 ? PubMed: Hoefsloot 1990 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00100995 ? PubMed: Zhong 1991 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - GSD-2 severe GAA GAA 2 1 Arnold Reuser
00100996 ? PubMed: Hermans 1991, OMIM:var0003 2-generation family, 2 affecteds, unaffected heterozygous carrier parents - yes India - - 0 - - GSD-2 severe GAA GAA 1 2 Arnold Reuser
00101000 ? PubMed: Tsujino 2000 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101001 ? PubMed: Shieh 1994 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101002 ? PubMed: Hermans 1993 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101003 ? PubMed: Hermans 1993 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101004 ? PubMed: Adams 1997 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101005 ? PubMed: Shieh 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101006 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101007 ? PubMed: Hermans 1993 2-generation family, 1 affected, unaffected heterozygous carrier parents - - - - - 0 - - GSD-2 severe GAA GAA 2 1 Arnold Reuser
00101008 09521422-PatC PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe GAA GAA 5 1 Arnold Reuser
00101012 ? PubMed: Castro-Gago 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101013 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101014 ? PubMed: Hermans 1993 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101015 ? PubMed: Becker 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101020 ? PubMed: Hermans 1994 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101021 ? PubMed: Kroos 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101022 ? PubMed: Hirschhorn 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101023 ? PubMed: Boerkoel 1995 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101024 ? PubMed: Huie 1994b - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101025 ? PubMed: Kroos 1995 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101026 ? PubMed: Stroppiano 2001 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101027 ? PubMed: Huie 1994b - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101028 ? PubMed: Huie 1994c - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101029 ? PubMed: Huie 1994 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Arnold Reuser
00101030 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Arnold Reuser
00101031 ? PubMed: Hermans 1994 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Arnold Reuser
00101032 ? PubMed: Huie 1994c - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101033 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101038 ? PubMed: Dagnino 2000 - - - Italy Sicilian - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101041 ? PubMed: Van der Kraan 1994 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101044 ? PubMed: Hirschhorn 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101047 ? PubMed: Raben 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101049 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101052 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101054 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101055 09521422-PatB PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe GAA GAA 2 1 Arnold Reuser
00101057 ? PubMed: Lin 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101058 ? PubMed: Reuser 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101059 09521422-PatA PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe GAA GAA 2 1 Arnold Reuser
00101060 09521422-PatD PubMed: Reuser 1995, PubMed: Hermans 1998 - - - Turkey - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101061 ? PubMed: Raben 1995 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101063 ? PubMed: Ko 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101064 ? PubMed: Shieh 1996 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101065 ? PubMed: Tsujino 2000 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101066 ? PubMed: Tsunoda 1996 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101067 ? PubMed: Nicolino 1997 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101068 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101069 ? PubMed: Kroos 1997 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101070 ? PubMed: Vorgerd 1998 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101071 ? PubMed: Adams 1997 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101072 ? PubMed: Hermans 1997 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101073 ? PubMed: Vorgerd 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101074 ? PubMed: Beesley 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101075 ? PubMed: Vorgerd 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101076 ? PubMed: Kroos 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101077 ? PubMed: Beesley 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101078 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101079 ? PubMed: Kroos 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101080 ? PubMed: Vorgerd 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101081 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101082 ? PubMed: Ko 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101083 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101084 ? PubMed: Tsujino 2000 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Arnold Reuser
00101085 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Arnold Reuser
00101086 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Arnold Reuser
00101087 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Miguel Angel Alcántara-Ortigoza
00101089 ? PubMed: Beesley 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101090 ? PubMed: Beesley 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101091 ? PubMed: Huie 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101092 ? PubMed: Beesley 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101093 ? PubMed: Becker 1998 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101094 ? PubMed: Huie 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101095 ? PubMed: Castro-Gago 1999 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101096 ? PubMed: Talsma 2002 - - - - - - 0 - - GSD-2 mild GAA GAA 1 1 Arnold Reuser
00101097 ? PubMed: Raben 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101098 ? PubMed: Raben 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101099 ? PubMed: Raben 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101100 ? PubMed: Ko 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101101 ? PubMed: Ko 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101102 ? PubMed: Ko 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101103 ? PubMed: Huie 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101104 ? PubMed: Ko 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101105 ? PubMed: Ko 1999 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101106 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe? GAA GAA 1 1 Arnold Reuser
00101107 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 intermediate GAA GAA 1 1 Arnold Reuser
00101108 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 intermediate? GAA GAA 1 1 Arnold Reuser
00101109 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101110 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe? GAA GAA 1 1 Arnold Reuser
00101111 ? PubMed: Tsujino 2000 - - - - - - 0 - - GSD-2 severe? GAA GAA 1 1 Arnold Reuser
00101112 ? PubMed: Pipo 2003 - - - - - - 0 - - GSD-2 severe? GAA GAA 1 1 Arnold Reuser
00101113 ? PubMed: Laforet 2000 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101114 ? 2001 ASHG - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101115 ? PubMed: Stroppiano 2001 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101116 ? 2001 ASHG - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101117 ? 2001 ASHG - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101118 ? PubMed: Fernandez-Hojas 2002 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
00101119 ? PubMed: Fernandez-Hojas 2002 - - - - - - 0 - - GSD-2 severe GAA GAA 1 1 Arnold Reuser
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