Disease #02145 (Danon;GSD2B (Danon disease (glycogen storage disease, type IIb (GSD-2B))), OMIM:300257)

Official abbreviation	Danon;GSD2B
Name	Danon disease (glycogen storage disease, type IIb (GSD-2B))
OMIM ID	300257
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	X-linked dominant
Individuals reported having this disease	88
Phenotype entries for this disease	88
Associated with 1 gene	LAMP2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-12-10 21:51:32 +01:00 (CET)

Individuals

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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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88 entries on 1 page. Showing entries 1 - 88.

Legend

How to query

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
00056438	-	-	-	M	?	Spain	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Irene Vieitez
00088085	-	PubMed: Alroy 2010, Journal: Alroy 2010	2-generation family, 5 affecteds, (3F, 2M)	F;M	-	United States	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	5	Johan den Dunnen
00088086	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088087	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088088	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088089	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088090	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088091	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088092	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088093	-	PubMed: Cheng 2012, Journal: Cheng 2012	-	M	no	China	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088094	-	PubMed: Cheng 2012, Journal: Cheng 2012	-	M	-	China	-	-	-	-	-	Danon;GSD2B	see paper;...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088095	-	PubMed: Cheng 2012, Journal: Cheng 2012	-	M	no	China	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088096	-	PubMed: Fidzianska 2013, Journal: Fidzianska 2013	isolated case and unaffected non-carrier sister	M	no	Poland	-	-	-	-	-	Danon;GSD2B	see paper; progressive exertional dyspnea, fatigue, abdominal discomfort, motor/mental development normal, general health good, physical function allowed sports involvement, throbbing precordium, systolic murmur left hemithorax, hepatomegaly, ...; mother died at 46y (dilated cardiomyopathy)	LAMP2	LAMP2	1	1	Johan den Dunnen
00088097	-	PubMed: He 2014, Journal: He 2014	2-generation family, 1 affected, unaffected heterozygous carrier mother/sister	M	no	China	China	-	-	-	-	Danon;GSD2B	see paper; 14y- admitted to hospital for recurrent episodes of presyncope and severe chest pain on exertion, ...	LAMP2	LAMP2	1	3	Johan den Dunnen
00088098	-	PubMed: Kim 2010, Journal: Kim 2010	2-generation family, 1 affected, unaffected non-carrier parents/sibs	F	no	Korea, South (Republic)	-	-	-	-	-	Danon;GSD2B	see paper; 13y-unexplained elevation of serum creatinine kinase, proximal weakness, Gower sign, no exertional dyspnea, no cardiac murmur, no hepatomegaly, no muscle atrophy, no hypotonia, normal muscle tone, ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088099	-	PubMed: Regelsberger 2009, Journal: Regelsberger 2009	2-generation family, 1 affected, unaffected non-carrier parents/sib	M	no	Austria	-	-	-	-	-	Danon;GSD2B	see paper; skeletal myopathy, mental retardation, ophthalmic manifestations, massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation, ...	LAMP2	LAMP2	2	1	Johan den Dunnen
00088100	-	PubMed: Tada 2010, Journal: Tada 2010	isolated case	M	no	Japan	-	-	-	-	-	Danon;GSD2B	see paper; 21y-admitted to hospital with exertional dyspnea, ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088101	-	PubMed: Tolb 2010, Journal: Tolb 2010	4-generation family, 4 affecteds (2F, 2M)	F;M	no	United States	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	4	Johan den Dunnen
00088102	-	PubMed: Yang 2010, Journal: Yang 2010	-	M	-	United States	white	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088103	-	PubMed: Yang 2010, Journal: Yang 2010	2-generation family, 1 affected, unaffected non-carrier parents	M	-	United States	white	-	-	-	-	Danon;GSD2B	see paper;, ..., skeletal muscle weakness, high creatine kinase level, ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088104	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088105	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088106	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088107	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088108	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088109	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088110	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088111	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088112	-	PubMed: Boucek 2011, Journal: Boucek 2011	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088113	-	PubMed: Taylor 2007, Journal: Taylor 2007	5-generation family, >13 affecteds	F;M	no	United States	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	13	Johan den Dunnen
00088151	-	PubMed: Yang 2010, Journal: Yang 2010	-	M	-	United States	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088152	-	PubMed: Fanin 2006, Journal: Fanin 2006	2-generation family, 3 affecteds (2F, M)	M	no	Italy	-	-	-	-	-	Danon;GSD2B	see paper; ..., easy fatigability, anorexia, abdominal pain, progressive diffuse muscle hypotrophy , Wolff-Parkinson-White (WPW) syndrome, heart failure, several syncopal episodes, elevated creatine kinase	LAMP2	LAMP2	1	3	Johan den Dunnen
00088153	-	PubMed: Fanin 2006, Journal: Fanin 2006	3-generation family, 4 affecteds (3F, M)	M	no	Italy	-	-	-	-	-	Danon;GSD2B	see paper; ..., 9y-scleral jaundice, abnormal hepatic laboratory tests, liver biopsy chronic hepatitis with normal serology, 18y-electrocardiography revealed WPW syndrome; 22y-exertion dyspnea, difficulty climbing stairs, several syncopal episodes; ...	LAMP2	LAMP2	1	4	Johan den Dunnen
00088154	-	PubMed: Fanin 2006, Journal: Fanin 2006, PubMed: Miani 2012, Journal: Miani 2012	4-generation family, 8 affecteds (6F, 2M), 4 women died suddenly	M	no	Italy	-	-	-	-	-	Danon;GSD2B	see paper; ..., 12y-subclinical jaundice, viral hepatitis excluded (serology; 18y-easy fatigability after mild effort; 19y-ECG revealed bradycardia, WPW syndrome; 22y-very low aerobic resistance (tread-mill test); 27y-chest X-ray mild cardiomegaly; women have no raised CK	LAMP2	LAMP2	1	8	Johan den Dunnen
00088155	-	PubMed: Majer 2014, Journal: Majer 2014	3-generation family, 2 affected brothers	M	no	Czech Republic	-	-	-	-	-	Danon;GSD2B	see paper; ..., infancy mild hypotonia, global developmental delay, elevated serum CK levels, ...	LAMP2	LAMP2	1	2	Johan den Dunnen
00088156	-	PubMed: Yang 2005, Journal: Yang 2005	4-generation family, 6 affecteds *3F, 3M)	F;M	no	United States	-	-	-	-	-	Danon;GSD2B	see paper; ..., presented with HCM as teenager, progressed to dilated cardiomyopathy/heart failure, skeletal myopathy, Wolff-Parkinson-White syndrome; teenage carrier sister has HCM, no skeletal myopathy/WPW, ...	LAMP2	LAMP2	1	6	Johan den Dunnen
00088157	-	PubMed: Yang 2005, Journal: Yang 2005	2-generation family, affected mother/son	F;M	no	United States	-	-	-	-	-	Danon;GSD2B	see paper; ..., presented with HCM, Wolff-Parkinson-White syndrome, skeletal myopathy as teenager; carrier mother developed DCM during 40s, ...	LAMP2	LAMP2	1	2	Johan den Dunnen
00088158	-	PubMed: Schorderet 2007, Journal: Schorderet 2007	3-generation family, 7 affecteds (3F, 4M)	F;M	no	Switzerland	-	-	-	-	-	Danon;GSD2B	see paper; ...,	LAMP2	LAMP2	1	7	Johan den Dunnen
00088159	-	PubMed: Sabourdy 2009, Journal: Sabourdy 2009	3-generation family, 3 affecteds (F, 2M) mother and 2 sons	F;M	-	Greece	-	-	-	-	-	Danon;GSD2B	see paper; ...	GLA, LAMP2	GLA, LAMP2	2	3	Johan den Dunnen
00088160	-	PubMed: Sabourdy 2009, Journal: Sabourdy 2009	-	M	no	Greece	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088161	-	PubMed: Cottinet 2011, Journal: Cottinet 2011	2-generation family, affected mother and 3 sons	F;M	-	France	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	4	Johan den Dunnen
00088162	-	PubMed: Bui 2008, Journal: Bui 2008	-	M	no	United States	Mexican	-	-	-	-	Danon;GSD2B	see paper; ..., severe skeletal muscular weakness, respiratory failure, history of two OHTs (1st severe HCM, 2nd allograft rejection, myopathy, ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088163	-	PubMed: Nadeau 2008, Journal: Nadeau 2008	4-generation family, affected grandmother, father and daughter	F;M	no	Canada	-	-	-	-	-	Danon;GSD2B	see paper; ...,	LAMP2	LAMP2	1	3	Johan den Dunnen
00088164	-	PubMed: Iascone 2008	-	M	no	Italy	-	-	-	-	-	Danon;GSD2B	12y-HCM; 14y-acute episode heart failure, ECG concentric hypertrophy dilated left ventricle with moderate systolic dysfunction, neurological/EMG normal, increased levels serum creatine kinase (638 U/l); 15y orthotopic heart transplantation	LAMP2	LAMP2	1	1	Johan den Dunnen
00088165	-	PubMed: Takahashi 2002, Journal: Takahashi 2002	2-generation family, affected brother/daughter	F;M	no	Japan	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	2	Johan den Dunnen
00088166	-	PubMed: Hong 2012, Journal: Hong 2012	-	M	no	China	-	-	-	-	-	Danon;GSD2B	severe hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, proximal muscle weakness, chronic painless diarrhea, muscle biopsy autophagic vacuolar myopathy, IHC LAMP2 absence	LAMP2	LAMP2	1	1	Johan den Dunnen
00088167	-	PubMed: Hong 2012, Journal: Hong 2012	-	M	no	China	-	-	-	-	-	Danon;GSD2B	limb-girdle muscle weakness, mild left ventricular diastolic dysfunction, sub-clinical neuropathy, muscle biopsy autophagic vacuolar myopathy, IHC LAMP2 smear	LAMP2	LAMP2	1	1	Johan den Dunnen
00088956	-	PubMed: Viéitez 2008	-	-	-	Spain	-	-	-	-	-	Danon;GSD2B	glycogen storage disease, type IIb	LAMP2	LAMP2	1	1	Johan den Dunnen
00088957	-	PubMed: Tunon 2008	2-generation family, 4 affecteds (2F, 2M)	F;M	-	Spain	-	-	-	-	-	Danon;GSD2B	variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, hepatopathy, abnormal mitochondria/LAMP2 immunohistochemistry	LAMP2	LAMP2	1	4	Johan den Dunnen
00088958	-	PubMed: Thiadens 2012, PubMed: van der Kooi 2008	4-generation family, 5 affecteds (F, 4M)	F;M	-	Netherlands	-	-	-	-	-	Danon;GSD2B	Danon disease, cone-rod dystrophy (CRD), visual acuity deteriorated progressively, color vision severely disturbed; ERG reduced photopic/scotopic responses, ...	LAMP2	LAMP2	1	5	Johan den Dunnen
00088959	-	PubMed: D’Souza 2014	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088960	-	PubMed: D’Souza 2014	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088961	-	PubMed: D’Souza 2014	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088962	-	PubMed: D’Souza 2014	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088963	-	PubMed: D’Souza 2014	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088964	-	PubMed: D’Souza 2014	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088965	-	PubMed: Lacoste-Collin 2002	-	M	-	France	white	-	-	-	-	Danon;GSD2B	see paper; cardiomyopathy, mental retardation, myopathy, vacuolar myopathy without acid a-glucosidase deficiency, diffuse chorio-capillary ocular atrophy, successful heart transplantation, ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088966	-	PubMed: Burusnukul 2008	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	-	LAMP2	LAMP2	1	1	Johan den Dunnen
00088969	-	PubMed: Bertini 2005	2-generation family, unaffected non-carrier mother	M	-	Italy	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088970	-	PubMed: Bertini 2005	2-generation family, heterozygous carrier mother	M	-	Italy	-	-	-	-	-	Danon;GSD2B	see paper; ...	LAMP2	LAMP2	1	1	Johan den Dunnen
00088982	-	PubMed: Nishino 2000	-	M	-	Japan	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	-	1	1	Peikuan Cong
00088983	-	PubMed: Echaniz-Laguna 2006	-	-	-	Italy	Sardinia	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00088984	-	PubMed: Di Blasi 2008	3-generation family, 1 affected, 2 uncles mother’s side died suddenly (35y/40y, one pes cavus)	M	no	Italy	-	-	-	-	-	Danon;GSD2B	Danon disease, hyperCKemia, hypertrophic cardiomyopathy, no muscle weakness, slight mental impairment; muscle biopsy autophagic vacuoles with sarcolemmal features and glycogen storage	LAMP2	LAMP2	1	1	Peikuan Cong
00088985	-	PubMed: Nishino 2000	-	M	-	Japan	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00088986	-	PubMed: Balmer 2005	2-generation family, affected boy and mother	M	no	Switzerland	-	16y	-	-	-	Danon;GSD2B	Danon disease, see paper; progressive hypertrophic cardiomyopathy, death at 16y (before planned heart transplantation); mother developed severe dilated cardiomyopathy, 46y died of complications	LAMP2	LAMP2	1	2	Peikuan Cong
00088987	-	PubMed: Nishino 2000	-	M	-	Greece	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00088988	-	PubMed: Lacoste-Collin 2002	-	M	-	France	white, French	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00088989	-	PubMed: Di Blasi 2008	-	-	-	Italy	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00088992	-	PubMed: Nishino 2000	-	M	-	Japan	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00088993	-	PubMed: Lobrinus 2005	-	-	-	Switzerland	-	-	-	-	-	Danon;GSD2B	Danon disease; cardiomyopathy, hypertrophic (HCM)	LAMP2	LAMP2	1	1	Peikuan Cong
00088998	-	PubMed: Sabroudy 2009	-	-	-	Greece	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00088999	-	PubMed: Nishino 2000	-	M	-	Japan	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089000	-	PubMed: Nishino 2000	-	M	-	Japan	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089002	-	PubMed: Nishino 2000	-	M	-	Japan	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089005	-	PubMed: Di Blasi 2008	-	-	-	Italy	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089007	-	PubMed: Bertini 2005	-	-	-	United States	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089008	-	PubMed: Sabroudy 2009	-	-	-	Greece	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089009	-	PubMed: Horvath 2003	-	-	-	Germany	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089010	-	PubMed: Musumeci 2005	-	M	-	Italy	Italian	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089011	-	PubMed: Nishino 2000	-	M	-	Italy	-	-	-	-	-	Danon;GSD2B	Danon disease	LAMP2	LAMP2	1	1	Peikuan Cong
00089021	-	PubMed: Arad 2005	affected mother/son	F;M	-	-	-	-	-	-	-	Danon;GSD2B	see paper; hypertrophic cardiomyopathy, ...	LAMP2	LAMP2	1	2	Johan den Dunnen
00211195	-	-	-	M	no	Italy	-	>43y	-	-	heart transplant	Danon;GSD2B	-	-	LAMP2	1	1	Maria Iascone
00445381	FamPat2	PubMed: Shalata 2023	2-generation family, affected father/daughter (3 first trimester miscarriages)	F	-	Israel	-	-	-	-	-	Danon;GSD2B	see paper; ..., visual impairment secondary to retinitis pigmentosa; uneventful spontaneous pregnancy/delivery; <14m-normal development; 18m-heart murmur, ECG asymptomatic WPW	-	ATP1B4, CPSF1, LAMP2, TSC1	3	2	Johan den Dunnen
00445382	FamPat1	PubMed: Shalata 2023	father	M	-	Israel	-	-	-	-	-	Danon;GSD2B	see paper; ..., full-time job as storekeeper; 13y-heart palpitations, ECG Wolf–Parkinson–White pattern; 18y-increased echogenicity, borderline increase antero-septal wall thickness; 25y-progressive visual impairment with increased severity dark hours, ERG revealed rods/cones dystrophy; no psychiatric/gastrointestinal/pulmonary complaints; 27y-pacemaker; 42y-atrial fibrillation	LAMP2	LAMP2	1	1	Johan den Dunnen
00454846	-	-	-	F	no	China	Asian	>14y	-	-	metoprolol	Danon;GSD2B	The ECG revealed premature atrial beats, premature ventricular beats, and ST-T changes. Echocardiography showed marked thickening of the septum and posterior wall of the left ventricle,reduced wall motion and diastolic dysfunction.	LAMP2	LAMP2	1	1	Chunli Wang
00454847	-	-	-	F	no	China	Asian	>07y	-	-	metoprolol	Danon;GSD2B	Cardiac enzymes were abnormal, ECG showed incomplete right bundle branch block, high voltage in the left ventricle, ST-T changes in extensive leads, and cardiac ultrasound showed a slight thickening of the left ventricle and septum, and uncoordinated ventricular wall motion.	LAMP2	LAMP2	1	1	Chunli Wang
00454848	-	-	-	M	no	(China)	Asian	02y03m	-	-	-	Danon;GSD2B	shortness of breath	LAMP2	LAMP2	1	1	Chunli Wang
00454849	-	-	-	M	no	China	Asian	>10y	-	-	metoprolol	Danon;GSD2B	heart murmur	LAMP2	LAMP2	1	1	Chunli Wang

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Global Variome shared LOVD

MPDZ (multiple PDZ domain protein)