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

Official abbreviation	GSD
Name	storage disease, glycogen (GSD)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	133
Phenotype entries for this disease	132
Associated with 3 genes	GAA, PHKA2, SLC37A4
Associated tissues	-
Disease features	-
Remarks	-
Date created	2015-03-05 15:32:25 +01:00 (CET)
Date last edited	N/A

Individuals

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID_report: ID of the individual that can be publically shared, e.g. as listed in a publication

Reference: reference to publication describing the individual/family, possibly giving more phenotypic details than listed in this database entry, incl. link to PubMed or other source, e.g. "den Dunnen ASHG2003 P2346"

Remarks: remarks about the individual

Gender: gender individual
All options:

? = unknown
- = not applicable
F = female
M = male
rF = raised as female
rM = raised as male

Consanguinity: indicates whether the parents are related (consanguineous), not related (non-consanguineous) or whether consanguinity is not known (unknown)
All options:

no = non-consanguineous parents
yes = consanguineous parents
likely = consanguinity likely
? = unknown
- = not applicable

Country: where (country) does the individual live/recently came from. Give additional details (population, specific sub-group) and when parents come from different countries in "Population". Belgium = individual lives in/recently came from Belgium, (France) = reported by laboratory in France, individual's country of origin not sure
All options:

? (unknown)
- (not applicable)
Afghanistan
(Afghanistan)
Albania
(Albania)
Algeria
(Algeria)
American Samoa
(American Samoa)
Andorra
(Andorra)
Angola
(Angola)
Anguilla
(Anguilla)
Antarctica
(Antarctica)
Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
(Armenia)
Aruba
(Aruba)
Australia
(Australia)
Austria
(Austria)
Azerbaijan
(Azerbaijan)
Bahamas
(Bahamas)
Bahrain
(Bahrain)
Bangladesh
(Bangladesh)
Barbados
(Barbados)
Belarus
(Belarus)
Belgium
(Belgium)
Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
(Bolivia)
Bosnia and Herzegovina
(Bosnia and Herzegovina)
Botswana
(Botswana)
Bouvet Island
(Bouvet Island)
Brazil
(Brazil)
British Indian Ocean Territory
(British Indian Ocean Territory)
Brunei Darussalam
(Brunei Darussalam)
Bulgaria
(Bulgaria)
Burkina Faso
(Burkina Faso)
Burundi
(Burundi)
Cambodia
(Cambodia)
Cameroon
(Cameroon)
Canada
(Canada)
Cape Verde
(Cape Verde)
Cayman Islands
(Cayman Islands)
Central African Republic
(Central African Republic)
Central Europe
Chad
(Chad)
Chile
(Chile)
China
(China)
Christmas Island
(Christmas Island)
Cocos (Keeling Islands)
(Cocos (Keeling Islands))
Colombia
(Colombia)
Comoros
(Comoros)
Congo
(Congo)
Cook Islands
(Cook Islands)
Costa Rica
(Costa Rica)
Cote D'Ivoire (Ivory Coast)
(Cote D'Ivoire (Ivory Coast))
Croatia (Hrvatska)
(Croatia (Hrvatska))
Cuba
(Cuba)
Cyprus
(Cyprus)
Czech Republic
(Czech Republic)
Denmark
(Denmark)
Djibouti
(Djibouti)
Dominica
(Dominica)
Dominican Republic
(Dominican Republic)
East Timor
(East Timor)
Ecuador
(Ecuador)
Egypt
(Egypt)
El Salvador
(El Salvador)
England
(England)
Equatorial Guinea
(Equatorial Guinea)
Eritrea
(Eritrea)
Estonia
(Estonia)
Ethiopia
(Ethiopia)
Falkland Islands (Malvinas)
(Falkland Islands (Malvinas))
Faroe Islands
(Faroe Islands)
Fiji
(Fiji)
Finland
(Finland)
France
(France)
Gabon
(Gabon)
Gambia
(Gambia)
Georgia
(Georgia)
Germany
(Germany)
Ghana
(Ghana)
Gibraltar
(Gibraltar)
Greece
(Greece)
Greenland
(Greenland)
Grenada
(Grenada)
Guadeloupe
(Guadeloupe)
Guam
(Guam)
Guatemala
(Guatemala)
Guiana, French
(Guiana, French)
Guinea
(Guinea)
Guinea-Bissau
(Guinea-Bissau)
Guyana
(Guyana)
Haiti
(Haiti)
Heard and McDonald Islands
(Heard and McDonald Islands)
Honduras
(Honduras)
Hong Kong
(Hong Kong)
Hungary
(Hungary)
Iceland
(Iceland)
India
(India)
Indonesia
(Indonesia)
Iran
(Iran)
Iraq
(Iraq)
Ireland
(Ireland)
Israel
(Israel)
Italy
(Italy)
Jamaica
(Jamaica)
Japan
(Japan)
Jordan
(Jordan)
Kazakhstan
(Kazakhstan)
Kenya
(Kenya)
Kiribati
(Kiribati)
Korea
(Korea)
Korea, North (People's Republic)
(Korea, North (People's Republic))
Korea, South (Republic)
(Korea, South (Republic))
Kosovo
(Kosovo)
Kuwait
(Kuwait)
Kyrgyzstan (Kyrgyz Republic)
(Kyrgyzstan (Kyrgyz Republic))
Laos
(Laos)
Latvia
(Latvia)
Lebanon
(Lebanon)
Lesotho
(Lesotho)
Liberia
(Liberia)
Libya
(Libya)
Liechtenstein
(Liechtenstein)
Lithuania
(Lithuania)
Luxembourg
(Luxembourg)
Macau
(Macau)
Macedonia
(Macedonia)
Madagascar
(Madagascar)
Malawi
(Malawi)
Malaysia
(Malaysia)
Maldives
(Maldives)
Mali
(Mali)
Mallorca
(Mallorca)
Malta
(Malta)
Marshall Islands
(Marshall Islands)
Martinique
(Martinique)
Mauritania
(Mauritania)
Mauritius
(Mauritius)
Mayotte
(Mayotte)
Mexico
(Mexico)
Micronesia
(Micronesia)
Moldova
(Moldova)
Monaco
(Monaco)
Mongolia
(Mongolia)
Montserrat
(Montserrat)
Morocco
(Morocco)
Mozambique
(Mozambique)
Myanmar
(Myanmar)
Namibia
(Namibia)
Nauru
(Nauru)
Nepal
(Nepal)
Netherlands
(Netherlands)
Netherlands Antilles
(Netherlands Antilles)
Neutral Zone (Saudia Arabia/Iraq)
(Neutral Zone (Saudia Arabia/Iraq))
New Caledonia
(New Caledonia)
New Zealand
(New Zealand)
Nicaragua
(Nicaragua)
Niger
(Niger)
Nigeria
(Nigeria)
Niue
(Niue)
Norfolk Island
(Norfolk Island)
Northern Ireland
(Northern Ireland)
Northern Mariana Islands
(Northern Mariana Islands)
Norway
(Norway)
Oman
(Oman)
Pakistan
(Pakistan)
Palau
(Palau)
Palestine
(Palestine)
Panama
(Panama)
Papua New Guinea
(Papua New Guinea)
Paraguay
(Paraguay)
Peru
(Peru)
Philippines
(Philippines)
Pitcairn
(Pitcairn)
Poland
(Poland)
Polynesia, French
(Polynesia, French)
Portugal
(Portugal)
Puerto Rico
(Puerto Rico)
Qatar
(Qatar)
Reunion
(Reunion)
Romania
(Romania)
Russia
(Russia)
Russian Federation
(Russian Federation)
Rwanda
(Rwanda)
S. Georgia and S. Sandwich Isls.
(S. Georgia and S. Sandwich Isls.)
Saint Kitts and Nevis
(Saint Kitts and Nevis)
Saint Lucia
(Saint Lucia)
Saint Vincent and The Grenadines
(Saint Vincent and The Grenadines)
Samoa
(Samoa)
San Marino
(San Marino)
Sao Tome and Principe
(Sao Tome and Principe)
Saudi Arabia
(Saudi Arabia)
Scotland
(Scotland)
Senegal
(Senegal)
Serbia
(Serbia)
Seychelles
(Seychelles)
Sierra Leone
(Sierra Leone)
Singapore
(Singapore)
Slovakia (Slovak Republic)
(Slovakia (Slovak Republic))
Slovenia
(Slovenia)
Solomon Islands
(Solomon Islands)
Somalia
(Somalia)
South Africa
(South Africa)
Southern Territories, French
(Southern Territories, French)
Soviet Union (former)
(Soviet Union (former))
Spain
(Spain)
Sri Lanka
(Sri Lanka)
St. Helena, Ascension and Tristan da
Cunha
(St. Helena, Ascension and Tristan da
Cunha)
St. Pierre and Miquelon
(St. Pierre and Miquelon)
Sudan
(Sudan)
Sudan, South
(Sudan, South)
Suriname
(Suriname)
Svalbard and Jan Mayen Islands
(Svalbard and Jan Mayen Islands)
Swaziland
(Swaziland)
Sweden
(Sweden)
Switzerland
(Switzerland)
Syria
(Syria)
Taiwan
(Taiwan)
Tajikistan
(Tajikistan)
Tanzania
(Tanzania)
Thailand
(Thailand)
Togo
(Togo)
Tokelau
(Tokelau)
Tonga
(Tonga)
Trinidad and Tobago
(Trinidad and Tobago)
Tunisia
(Tunisia)
Turkey
(Turkey)
Turkmenistan
(Turkmenistan)
Turks and Caicos Islands
(Turks and Caicos Islands)
Tuvalu
(Tuvalu)
Uganda
(Uganda)
Ukraine
(Ukraine)
United Arab Emirates
(United Arab Emirates)
United Kingdom (Great Britain)
(United Kingdom (Great Britain))
United States
(United States)
Uruguay
(Uruguay)
US Minor Outlying Islands
(US Minor Outlying Islands)
Uzbekistan
(Uzbekistan)
Vanuatu
(Vanuatu)
Vatican City State (Holy See)
(Vatican City State (Holy See))
Venezuela
(Venezuela)
Viet Nam
(Viet Nam)
Virgin Islands (British)
(Virgin Islands (British))
Virgin Islands (US)
(Virgin Islands (US))
Wales
(Wales)
Wallis and Futuna Islands
(Wallis and Futuna Islands)
Western Sahara
(Western Sahara)
Yemen
(Yemen)
Yugoslavia
(Yugoslavia)
Zaire
(Zaire)
Zambia
(Zambia)
Zimbabwe
(Zimbabwe)

Population: population the individual (or ancestors) belongs to; e.g. white, gypsy, Jewish-Ashkenazi, Africa-N, Sardinia, etc.

Age at death: age at which the individual deceased (when applicable):

35y = 35 years
>43y = still alive at 43y
04y08m = 4 years and 8 months
00y00m01d12h = 1 day and 12 hours
18y? = around 18 years
30y-40y = between 30 and 40 years
>54y = older than 54
? = unknown

VIP: individual/phenotype VIP-status was requested for matchmaking - need collaboration(s) to crack the case - please contact the submitter/curator. NOTE: to get VIP status ask the curator.

Data_av: are additional data available upon request: e.g. pedigree (yes/no/?)

Treatment: treatment of patient

Variants in genes: The individual has variants for this gene.

Panel size: Number of individuals this entry represents; e.g. 1 for an individual, 5 for a family with 5 affected members.

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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133 entries on 2 pages. Showing entries 1 - 100.

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Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age at death	VIP	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00033808	-	-	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	GSD	-	PHKB, PYGM	PHKB, PYGM	2	1	Shu Yau
00033817	-	-	-	F	-	Australia	-	-	-	-	-	GSD	-	PHKB	PHKB	1	1	Shu Yau
00183081	PatB	Labrijn-Marks et al, submitted	-	-	yes	Netherlands	-	-	-	-	-	GSD	-	GAA	GAA	2	1	Marianne Hoogeveen-Westerveld
00183082	PatC	Labrijn-Marks et al, submitted	-	-	-	Netherlands	-	<00y02m14d	-	-	-	GSD	10w-died with cardiorespiratory arrest	GAA	GAA	2	1	Marianne Hoogeveen-Westerveld
00183083	PatD	Labrijn-Marks et al, submitted	-	-	-	Netherlands	-	-	-	-	-	GSD	CRIM positive	GAA	GAA	2	1	Marianne Hoogeveen-Westerveld
00183084	PatE	Labrijn-Marks et al, submitted	-	-	-	Netherlands	-	-	-	-	-	GSD	biventricular cardiac hypertrophy	GAA	GAA	2	1	Marianne Hoogeveen-Westerveld
00207366	-	PubMed: Grzesiuk 2010	family, 7 affected (F, 2M)	F;M	-	Brazil	-	-	-	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	-	-	3	Pim Pijnappel
00246862	-	manuscript submitted, 2019	-	-	-	-	-	-	-	-	-	GSD	-	GAA	GAA	1	1	Roberto Araujo
00265782	Fam	Echaniz-Laguna WMS2019, absO5	4-generation family, 14 affected	F;M	-	France	-	-	-	-	-	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	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	?	-	-	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	-	-	-	-	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	-	?	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	?	-	-	enzyme replacement therapy until death	GSD	deceased; 49y-non-invasive ventilation;	GAA	-	-	1	Johan den Dunnen
00329014	Pat1	PubMed: Burwinkel 1998	-	M	yes	Israel	Arab, Beduin	-	-	-	-	GSD	see paper; ..., hepatomegaly; growth failure; no hypoglycaemia, no lactataemia;	PYGL	PYGL	1	1	LOVD
00329015	Pat2	PubMed: Burwinkel 1998	-	M	no	Suriname	-	-	-	-	-	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	-	-	-	-	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	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	GSD	see paper; ..., hepatomegaly; growth failure; hypoglycaemia, lactataemia;	PYGL	PYGL	1	1	LOVD
00329020	Pat2	PubMed: Beauchamp 2007	-	F	no	United Kingdom (Great Britain)	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	GSD	see paper; ..., hepatomegaly; growth failure, weakness, cramps; hypoglycaemia, lactataemia;	PYGL	PYGL	2	1	LOVD
00329023	Pat5	PubMed: Beauchamp 2007	-	M	no	Poland	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	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	-	-	-	-	-	GSD	-	PYGL	PHKA2, PYGL	3	1	LOVD
00329035	Pat10	PubMed: Davit-Spraul 2011	-	-	-	France	-	-	-	-	-	GSD	-	PYGL	PYGL	2	1	LOVD
00329036	Pat11	PubMed: Davit-Spraul 2011	-	-	-	France	-	-	-	-	-	GSD	-	PYGL	PYGL	1	1	LOVD
00329037	Pat12	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329038	Pat13	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329039	Pat14	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329040	Pat15	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	2	1	LOVD
00329041	Pat16	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	2	1	LOVD
00329042	Pat17	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	2	1	LOVD
00329043	Pat2	PubMed: Davit-Spraul 2011	-	-	-	France	-	-	-	-	-	GSD	see paper; ...	PYGL	PHKA2, PYGL	2	1	LOVD
00329044	Pat20	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329045	Pat21	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329046	Pat22	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329047	Pat23	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329048	Pat24	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329049	Pat25	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG1 profile	PHKA2	PHKA2	1	1	LOVD
00329050	Pat26	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	1	1	LOVD
00329051	Pat27	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	1	1	LOVD
00329052	Pat3	PubMed: Davit-Spraul 2011	-	-	-	France	-	-	-	-	-	GSD	,	PYGL	PYGL	2	1	LOVD
00329053	Pat30	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	1	1	LOVD
00329054	Pat31	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	1	1	LOVD
00329055	Pat32	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	2	1	LOVD
00329056	Pat33	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	1	1	LOVD
00329057	Pat34	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2, PYGL	3	1	LOVD
00329058	Pat35	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	1	1	LOVD
00329059	Pat36	PubMed: Davit-Spraul 2011	-	M	-	France	-	-	-	-	-	GSD	see paper; ..., XLG2 profile	PHKA2	PHKA2	1	1	LOVD

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Global Variome shared LOVD