Disease #04216 (GSD (storage disease, glycogen (GSD)))

Official abbreviation GSD
Name storage disease, glycogen (GSD)
OMIM ID -
Inheritance -
Individuals reported having this disease 132
Phenotype entries for this disease 131
Associated with 3 genes GAA, PHKA2, SLC37A4
Associated tissues -
Disease features -
Remarks -


Individuals

132 entries on 2 pages. Showing entries 1 - 100.
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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
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 - 0 3 Pim Pijnappel
00246862 - manuscript submitted, 2019 - - - - - - 0 - - GSD - GAA GAA 1 1 Roberto Araujo
00265782 Fam Echaniz-Laguna WMS2019, absO5 4-generation family, 14 affected F;M - France - - 0 - - GSD adult-onset proximal muscle weakness, normal metabolic response aerobic/anaerobic exercise; muscle biopsy glycogen accumulation PYGM PYGM 1 14 Johan den Dunnen
00305685 Pat1 PubMed: Vanherpe 2020 - F - Belgium - 68y 0 - 2y enzyme replacement therapy GSD 68y-deceased; limb-girdle weakness; 54y-non-invasive ventilation; 68y-invasiveventilation; GAA GAA 2 1 Johan den Dunnen
00305686 Pat2 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 4y enzyme replacement therapy GSD ambulatory; respiratory weakness; 58y-non-invasive ventilation; CT brain normal GAA GAA 2 1 Johan den Dunnen
00305687 Pat3 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 8y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305688 Pat4 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 13y enzyme replacement therapy GSD ambulatory; limb-girdle weakness, fatigue; 39y-non-invasive ventilation; GAA GAA 2 1 Johan den Dunnen
00305689 Pat5 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 2y enzyme replacement therapy GSD ambulatory; limb-girdle weakness, fatigue; 53y-non-invasive ventilation; GAA GAA 2 1 Johan den Dunnen
00305690 Pat6 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 7y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305691 Pat7 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 4y enzyme replacement therapy GSD ambulatory; limb-girdle weakness, fatigue; 32y-non-invasive ventilation; GAA GAA 2 1 Johan den Dunnen
00305692 Pat8 PubMed: Vanherpe 2020 - M - Belgium - ? 0 - 3y enzyme replacement therapy GSD deceased; respiratory weakness; 42y-invasive ventilation; GAA GAA 2 1 Johan den Dunnen
00305693 Pat9 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 13y enzyme replacement therapy GSD wheelchair-bound; limb-girdle weakness; no ventilation; MRI brain atrophy, mild microvascular white matter lesions GAA GAA 2 1 Johan den Dunnen
00305694 Pat10 PubMed: Vanherpe 2020 - M - Belgium - ? 0 - 8y enzyme replacement therapy GSD deceased; respiratory weakness; 75y-non-invasive ventilation; GAA GAA 1 1 Johan den Dunnen
00305695 Pat11 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 13y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; 37y-non-invasive ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305696 Pat12 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 14y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305697 Pat13 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 2y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305698 Pat14 PubMed: Vanherpe 2020 - M - Belgium - 62y 0 - 2y enzyme replacement therapy GSD 62y-deceased; respiratory weakness; 58y-non-invasive ventilation; GAA GAA 1 1 Johan den Dunnen
00305699 Pat15 PubMed: Vanherpe 2020 family, 2 affected, Pat1 M - Belgium - - 0 - 13y enzyme replacement therapy GSD ambulatory; respiratory weakness; 36y-non-invasive ventilation; GAA GAA 2 2 Johan den Dunnen
00305700 Pat16 PubMed: Vanherpe 2020 Pat2 M - Belgium - - 0 - 11y enzyme replacement therapy GSD ambulatory; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305701 Pat17 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 9y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305702 Pat18 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 12y enzyme replacement therapy GSD ambulatory; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305703 Pat19 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 10y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305704 Pat20 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 9y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain moderate ventriculomegaly GAA GAA 2 1 Johan den Dunnen
00305705 Pat21 PubMed: Vanherpe 2020 family, 2 affected, Pat1 M - Belgium - - 0 - 10y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal GAA GAA 2 2 Johan den Dunnen
00305706 Pat22 PubMed: Vanherpe 2020 Pat2 M - Belgium - - 0 - 9y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305707 Pat23 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 7y enzyme replacement therapy GSD ambulatory; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305708 Pat24 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 12y enzyme replacement therapy GSD ambulatory; no ventilation; MRI brain aspecific T2 hyperintensity in right thalamus GAA GAA 2 1 Johan den Dunnen
00305709 Pat25 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 8y enzyme replacement therapy GSD ambulatory; limb-girdle weakness, respiratory weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305710 Pat26 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 6y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305711 Pat27 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 5y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305712 Pat28 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 3y enzyme replacement therapy GSD ambulatory; respiratory weakness, limb-girdle weakness, axial weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305713 Pat29 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 14y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305714 Pat30 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 13y enzyme replacement therapy GSD ambulatory; respiratory weakness; 40y-non-invasive ventilation; MRI brain vertebrobasilar dolichoextasia, hypointensities in basal ganglia (SWI) GAA GAA 2 1 Johan den Dunnen
00305715 Pat31 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 13y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305716 Pat32 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 13y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 3 1 Johan den Dunnen
00305717 Pat33 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 11y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; CT brain normal GAA GAA 2 1 Johan den Dunnen
00305718 Pat34 PubMed: Vanherpe 2020 family, 2 affected, Pat1 M - Belgium - - 0 - 12y enzyme replacement therapy GSD ambulatory; limb-girdle weakness, ptosis left side; 60y-non-invasive ventilation; MRI brain aneurysm right vertebral artery GAA GAA 2 2 Johan den Dunnen
00305719 Pat35 PubMed: Vanherpe 2020 Pat2 F - Belgium - 78y 0 - - GSD 78y-deceased; limb-girdle weakness, axial weakness; 72y-non-invasive ventilation; CT brain vascular leukoencephalopathy GAA GAA 2 1 Johan den Dunnen
00305720 Pat36 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 11y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; MRI brain multiple small aneurysms (right internal carotid artery, left anterior cerebral artery) GAA GAA 2 1 Johan den Dunnen
00305721 Pat37 PubMed: Vanherpe 2020 family, 2 affected, Pat1 M - Belgium - - 0 - 10y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; MRI brain normal GAA GAA 2 2 Johan den Dunnen
00305722 Pat38 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 9y enzyme replacement therapy GSD ambulatory; hyperCKemia, fatigue; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305723 Pat39 PubMed: Vanherpe 2020 Pat2 F - Belgium - - 0 - 7y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305724 Pat40 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 3y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305725 Pat41 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 2y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; 53y-non-invasive ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305726 Pat42 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 5y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305727 Pat43 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 11y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305728 Pat44 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 7y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305729 Pat45 PubMed: Vanherpe 2020 - F - Belgium - 65y 0 - 7y enzyme replacement therapy GSD 65y-deceased; limb-girdle weakness, respiratory weakness; 55y-non-invasive ventilation; CT brain normal GAA GAA 2 1 Johan den Dunnen
00305730 Pat46 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 8y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; 54y-non-invasive ventilation; GAA GAA 2 1 Johan den Dunnen
00305731 Pat47 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 11y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; 41y-non-invasive ventilation; CT brain normal GAA GAA 2 1 Johan den Dunnen
00305732 Pat48 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 14y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; 38y-non-invasive ventilation; MRI brain normal GAA GAA 2 1 Johan den Dunnen
00305733 Pat49 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 2y enzyme replacement therapy GSD ambulatory; respiratory weakness; no ventilation; MRI brain vertebrobasilar dolichoextasia GAA GAA 2 1 Johan den Dunnen
00305734 Pat50 PubMed: Vanherpe 2020 - M - Belgium - - 0 - 3y enzyme replacement therapy GSD ambulatory; limb-girdle weakness; 37y-non-invasive ventilation; GAA GAA 2 1 Johan den Dunnen
00305735 Pat51 PubMed: Vanherpe 2020 - F - Belgium - - 0 - 4m enzyme replacement therapy GSD ambulatory; limb-girdle weakness, fatigue; no ventilation; GAA GAA 2 1 Johan den Dunnen
00305736 Pat52 PubMed: Vanherpe 2020 - F - Belgium - ? 0 - enzyme replacement therapy until death GSD deceased; 49y-non-invasive ventilation; GAA - 0 1 Johan den Dunnen
00329014 Pat1 PubMed: Burwinkel 1998 - M yes Israel Arab, Beduin - 0 - - GSD see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia; PYGL PYGL 1 1 LOVD
00329015 Pat2 PubMed: Burwinkel 1998 - M no Suriname - - 0 - - GSD see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia (8h fasting); glycogen storage in liver PYGL PYGL 3 1 LOVD
00329016 Pat3 PubMed: Burwinkel 1998 - F yes Turkey Hindustani - 0 - - GSD see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver PYGL PYGL 1 1 LOVD
00329017 Pat1 PubMed: Chang 1998 9-generation family, 5 affected (3F, 2M) F;M yes United States Mennonite - 0 - - GSD see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia; glycogen storage in liver PYGL PYGL 1 5 LOVD
00329018 Pat1 PubMed: Tang 2003 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes China - - 0 - - GSD see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactate normal; glycogen storage in liver PYGL PYGL 1 1 LOVD
00329019 Pat1 PubMed: Beauchamp 2007 - F yes United Kingdom (Great Britain) Asia - 0 - - GSD see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia; PYGL PYGL 1 1 LOVD
00329020 Pat2 PubMed: Beauchamp 2007 - F no United Kingdom (Great Britain) - - 0 - - GSD see paper; ..., hepatomegaly; no growth failure, mild hypotonia, deleyed motor development; no hypoglycaemia, lactataemia; PYGL PYGL 2 1 LOVD
00329021 Pat3 PubMed: Beauchamp 2007 2-generation family, 2 affected sibs (2M), unaffected heterozygous carrier parents M no France - - 0 - - GSD see paper; ..., hepatomegaly; growth failure, weakness, cramps, splenomegaly; hypoglycaemia, lactataemia; PYGL PYGL 2 2 LOVD
00329022 Pat4 PubMed: Beauchamp 2007 sib M no France - - 0 - - GSD see paper; ..., hepatomegaly; growth failure, weakness, cramps; hypoglycaemia, lactataemia; PYGL PYGL 2 1 LOVD
00329023 Pat5 PubMed: Beauchamp 2007 - M no Poland - - 0 - - GSD see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver PYGL PYGL 2 1 LOVD
00329024 Pat6 PubMed: Beauchamp 2007 - M no Poland - - 0 - - GSD see paper; ..., hepatomegaly; no growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver PYGL PYGL 2 1 LOVD
00329025 Pat7 PubMed: Beauchamp 2007 - F no Poland - - 0 - - GSD see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, lactataemia; glycogen storage in liver PYGL PYGL 2 1 LOVD
00329026 Pat8 PubMed: Beauchamp 2007 - F no Austria - - 0 - - GSD see paper; ..., hepatomegaly; growth failure, hypotonia, retarded bone age; no hypoglycaemia, no lactataemia; glycogen storage in liver PYGL PYGL 1 1 LOVD
00329034 Pat1 PubMed: Davit-Spraul 2011 - - - France - - 0 - - GSD - PYGL PHKA2, PYGL 3 1 LOVD
00329035 Pat10 PubMed: Davit-Spraul 2011 - - - France - - 0 - - GSD - PYGL PYGL 2 1 LOVD
00329036 Pat11 PubMed: Davit-Spraul 2011 - - - France - - 0 - - GSD - PYGL PYGL 1 1 LOVD
00329037 Pat12 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329038 Pat13 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329039 Pat14 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329040 Pat15 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 2 1 LOVD
00329041 Pat16 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 2 1 LOVD
00329042 Pat17 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 2 1 LOVD
00329043 Pat2 PubMed: Davit-Spraul 2011 - - - France - - 0 - - GSD see paper; ... PYGL PHKA2, PYGL 2 1 LOVD
00329044 Pat20 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329045 Pat21 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329046 Pat22 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329047 Pat23 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329048 Pat24 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329049 Pat25 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG1 profile PHKA2 PHKA2 1 1 LOVD
00329050 Pat26 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 1 1 LOVD
00329051 Pat27 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 1 1 LOVD
00329052 Pat3 PubMed: Davit-Spraul 2011 - - - France - - 0 - - GSD , PYGL PYGL 2 1 LOVD
00329053 Pat30 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 1 1 LOVD
00329054 Pat31 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 1 1 LOVD
00329055 Pat32 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 2 1 LOVD
00329056 Pat33 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 1 1 LOVD
00329057 Pat34 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2, PYGL 3 1 LOVD
00329058 Pat35 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 1 1 LOVD
00329059 Pat36 PubMed: Davit-Spraul 2011 - M - France - - 0 - - GSD see paper; ..., XLG2 profile PHKA2 PHKA2 1 1 LOVD
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