Disease #04216

Official abbreviation GSD
Name storage disease, glycogen (GSD)
OMIM ID -
Individuals reported having this disease 26
Phenotype entries for this disease 26
Associated with 0 genes -
Associated tissues -
Disease features -
Remarks -


Individuals

26 entries on 1 page. Showing entries 1 - 26.
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00000032 - PubMed: Bell 2011 - - - - - - 0 - - GSD cardiomyopathy (HP:0001638); respiratory problems (HP:0002093) ADA, ATP7B, BTD, DPYD, GAA, GLB1, HEXB, PKHD1, PMM2, RAD51C, RPGRIP1L, SERPINA1, SLC26A2, SMPD1 ADA, ATP7B, BTD, CYP3A4, GAA, GLB1, HEXB, PKHD1, PMM2, RAD51C, RPGRIP1L, SERPINA1, SLC26A2, SMPD1, TMPPE 15 1 LOVD-team, but with Curator vacancy
00033808 - - - F no United Kingdom (Great Britain) - - 0 - - GSD - PHKB, PYGM PHKB, PYGM 2 1 Shu Yau
00033817 - - - F - Australia - - 0 - - GSD - PHKB PHKB 1 1 Shu Yau
00183081 PatB Labrijn-Marks et al, submitted - - yes Netherlands - - 0 - - GSD - GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00183082 PatC Labrijn-Marks et al, submitted - - - Netherlands - <00y02m14d 0 - - GSD 10w-died with cardiorespiratory arrest GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00183083 PatD Labrijn-Marks et al, submitted - - - Netherlands - - 0 - - GSD CRIM positive GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00183084 PatE Labrijn-Marks et al, submitted - - - Netherlands - - 0 - - GSD biventricular cardiac hypertrophy GAA GAA 2 1 Marianne Hoogeveen-Westerveld
00207361 - PubMed: Pittis 2008 1 affected M - Italy - - 0 database Erasmus MC - GSD cardiomyopathy (HP:0001638) GAA GAA 2 1 Pim Pijnappel
00207362 - PubMed: Oba-Shinjo 2009 1 affected M - Brazil - - 0 database Erasmus MC - GSD no cardiomyopathy (-HP:0001638); respiratory problems (HP:0002093) GAA GAA 2 1 Pim Pijnappel
00207363 - PubMed: Oba-Shinjo 2009 1 affected M - Brazil - - 0 database Erasmus MC - GSD no cardiomyopathy (-HP:0001638) GAA GAA 2 1 Pim Pijnappel
00207364 - PubMed: Oba-Shinjo 2009 1 affected F - Brazil - - 0 database Erasmus MC - GSD respiratory problems (HP:0002093) GAA GAA 2 1 Pim Pijnappel
00207365 - PubMed: Oba-Shinjo 2009 family, 7 affected (2F, M) F;M - Brazil - - 0 database Erasmus MC - GSD age onset 35y/36y/34y ; no cardiomyopathy (-HP:0001638) (3); respiratory problems (HP:0002093) -/+/- GAA GAA 1 3 Pim Pijnappel
00207366 - PubMed: Grzesiuk 2010 family, 7 affected (F, 2M) F;M - Brazil - - 0 database Erasmus MC - GSD age onset 32y/31y/43y ; ventilation support (HP:0004887) +/-/-; respiratory problems (HP:0002093) (3); able to walk (-HP:0002540) (3); abnormality of movement(HP:0100022) +/+/- GAA GAA 1 3 Pim Pijnappel
00207367 - PubMed: Orlikowski 2011 1 affected F - France - - 0 database Erasmus MC - GSD ventilation support (HP:0004887); respiratory problems (HP:0002093); unable to walk (HP:0002540); abnormality of movement(HP:0100022) GAA GAA 2 1 Pim Pijnappel
00207368 - PubMed: Turaca 2015 1 affected - - Brazil - - 0 database Erasmus MC - GSD - GAA GAA 1 1 Pim Pijnappel
00207369 - PubMed: Nino 2013 family, 7 affected (F, 2M) F;M - Colombia - - 0 database Erasmus MC - GSD age onset 20y/19y/17y ; no cardiomyopathy (-HP:0001638) (3); liver spleen -/-/-; no ventilation support (-HP:0004887) (3); no respiratory problems (-HP:0002093) (3); able to walk (-HP:0002540) (3); abnormality of movement(HP:0100022) (3) GAA GAA 2 3 Pim Pijnappel
00207370 - PubMed: Bali 2012 1 affected - - - - - 0 database Erasmus MC - GSD - GAA GAA 1 1 Pim Pijnappel
00207371 - PubMed: Yang 2011 1 affected - - China - - 0 database Erasmus MC - GSD ventilation support (HP:0004887); respiratory problems (HP:0002093) GAA GAA 2 1 Pim Pijnappel
00207372 - PubMed: Bali 2012 1 affected - - - - - 0 database Erasmus MC - GSD - GAA GAA 2 1 Pim Pijnappel
00207373 - PubMed: Oba-Shinjo 2009 1 affected M - Brazil - - 0 database Erasmus MC - GSD cardiomyopathy (HP:0001638); respiratory problems (HP:0002093) GAA GAA 2 1 Pim Pijnappel
00207374 - PubMed: Nascimbeni 2008 1 affected M - Italy - - 0 database Erasmus MC - GSD no ventilation support (-HP:0004887); respiratory problems (HP:0002093) GAA GAA 2 1 Pim Pijnappel
00207375 - PubMed: Laforet 2000 1 affected F - France - - 0 database Erasmus MC - GSD no cardiomyopathy (-HP:0001638); no ventilation support (-HP:0004887); abnormality of movement(HP:0100022); no ptosis (-HP:0000508) GAA GAA 2 1 Pim Pijnappel
00207376 - PubMed: Kroos 1997 1 affected - - Pakistan - 11m 0 database Erasmus MC - GSD died at 11m; cardiomyopathy (HP:0001638) GAA GAA 1 1 Pim Pijnappel
00207377 - PubMed: McCready 2007 1 affected - - Portugal - - 0 database Erasmus MC - GSD age onset infantile GAA GAA 1 1 Pim Pijnappel
00207378 - PubMed: Sacconi 2010 1 affected F - France - - 0 database Erasmus MC - GSD no cardiomyopathy (-HP:0001638); ventilation support (HP:0004887) at night; able to walk (-HP:0002540); ptosis (HP:0000508); abnormality cerebral blood vessels (HP:0100659) GAA GAA 2 1 Pim Pijnappel
00207379 - PubMed: Sampaolo 2013 family, 7 affected (4F, 3M) F;M - Italy - - 0 database Erasmus MC - GSD respiratory problems (HP:0002093) (6); abnormality of movement(HP:0100022) (7); scapular winging (HP:0003691)(7); abnormality cerebral blood vessels (HP:0100659) (6)/?(1) GAA GAA 2 7 Pim Pijnappel
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