Disease #03021 (LGMDR12;LGMD2L (dystrophy, muscular, limb-girdle, autosomal recessive, type 12 (LGMD2L)), OMIM:611307)

Official abbreviation	LGMDR12;LGMD2L
Name	dystrophy, muscular, limb-girdle, autosomal recessive, type 12 (LGMD2L)
OMIM ID	611307
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	40
Phenotype entries for this disease	38
Associated with 1 gene	ANO5
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2024-01-12 20:55:34 +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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40 entries on 1 page. Showing entries 1 - 40.

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
00078733	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	F	yes	Canada	French Canadian	>68y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles no weakness, no distal weakness ; raised CPK (HP:0003236) 1649; >68y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078734	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	>67y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4.5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1032; >67y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078735	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	>65y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 4, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 1156; >65y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078736	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	>47y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles mild atrophy, no distal weakness ; raised CPK (HP:0003236) 6000; >47y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078737	-	PubMed: Jarry 2007	family 5 affected siblings, parents first-degree cousins	M	yes	Canada	French Canadian	-	-	-	-	LGMDR12;LGMD2L	deceased	ANO5	ANO5	2	1	Johan den Dunnen
00078738	-	PubMed: Bolduc 2010	family affected brother and sister	M	-	Canada	French Canadian	>43y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4, quadriceps atrophy, quadriceps MRC 5, calf muscles atrophy, distal weakness calf muscles 4/5; raised CPK (HP:0003236) 8081; >43y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078739	-	PubMed: Bolduc 2010	family affected brother and sister	F	-	Canada	French Canadian	>61y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 4.5, no quadriceps atrophy, quadriceps MRC 5, calf muscles hypertrophy, no distal weakness ; raised CPK (HP:0003236) 4061; >61y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078740	-	PubMed: Bolduc 2010	-	F	-	Canada	French Canadian	>64y	-	-	-	LGMDR12;LGMD2L	iliopsoas MRC 3.5, quadriceps atrophy, quadriceps MRC 4.5, calf muscles hypertrophy, distal weakness tibialis ant. 4/5; raised CPK (HP:0003236) 1339; >64y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078792	-	-	-	-	-	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078793	-	-	-	-	-	United States	white	-	-	-	-	LGMDR12;LGMD2L	dystrophic muscle biopsy	ANO5	ANO5	2	1	Tom Winder
00078794	-	-	-	-	-	Canada	French Canadian	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078795	-	-	-	-	-	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078797	-	-	-	F	?	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078798	-	-	-	M	-	United States	Hispanic	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078799	-	-	-	M	-	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078800	-	-	-	M	-	United States	white	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078812	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	heart failure father, ambulatory with support; raised CPK (HP:0003236) 784; >69y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078813	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 4387; >51y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078816	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	dyslipidemia, CAD, ambulatory with support; raised CPK (HP:0003236) 1319; >64y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078824	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	dyslipidemia, ECG left anterior fascicular block, ambulatory with support; raised CPK (HP:0003236) 2615; >56y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078825	-	PubMed: Wahbi 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 4400; >59y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078827	-	PubMed: Wahbi 2012	-	F	-	France	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 1058; >45y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078828	-	PubMed: Wahbi 2012	-	F	-	France	-	-	-	-	-	LGMDR12;LGMD2L	ambulatory with support; raised CPK (HP:0003236) 936; >46y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078831	-	PubMed: Sarkozy 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 2500-4500; >52y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078832	-	PubMed: Sarkozy 2012	-	F	-	France	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 686; >42y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078833	-	PubMed: Sarkozy 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	hypertrophic calves; raised CPK (HP:0003236) 784-987; >69y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078834	-	PubMed: Sarkozy 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 1717-3000; >55y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078835	-	PubMed: Sarkozy 2012	-	M	-	France	-	-	-	-	-	LGMDR12;LGMD2L	muscle pain, axial weakness; raised CPK (HP:0003236) 1200-2200; >64y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078837	-	PubMed: Sarkozy 2012	-	M	-	Germany	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 300-2000; >58y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078838	-	PubMed: Sarkozy 2012	-	M	-	Germany	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 1700-2900; >29y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078840	-	PubMed: Sarkozy 2012	2-generation family, 1 affected	M	-	Germany	-	-	-	-	-	LGMDR12;LGMD2L	raised CPK (HP:0003236) 4200-22000; >32y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078843	-	PubMed: Sarkozy 2012	-	M	-	United Kingdom (Great Britain)	-	-	-	-	-	LGMDR12;LGMD2L	knee hyperextension, calf pseudohypertrophy; raised CPK (HP:0003236) 2122; >63y walking (-HP:0006957)	ANO5	ANO5	2	1	Johan den Dunnen
00078870	-	-	-	M	-	Canada	-	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00078872	-	-	-	M	-	United States	-	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Tom Winder
00301514	-	-	-	M	-	Greece	-	16y	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	2	1	Helen Latsoudis
00361913	Pat1	PubMed: Saat 2021	-	F	yes	Turkey	-	-	-	-	-	LGMDR12;LGMD2L	Muscle weakness (HP:0001324)	-	ANO5	1	1	Ibrahim Sahin
00398963	Pat2	PubMed: Segui 2020	no family history	F	?	Spain	-	-	-	-	-	LGMDR12;LGMD2L	see paper; ..., limb-girdle weakness; no distal weakness; raised CK (2300 U/L); no exercise-induced myalgia; no rhabdomyolysis; muscle biopsy no necrosis, no regeneration, no nuclei internalization, no endomysial inflammation, no partial invasion muscle cells, no ragged-red fibers (prominent), lipid accumulation; MRI muscle thigh muscle edema, thigh muscles fatty replacement, edema of lower leg muscles, no fatty replacement of lower leg muscles	ANO5	ANO5	2	1	Lidia Gonzalez-Quereda
00402410	P49/Myo116	PubMed: Cerino 2022	-	M	no	Chile	hispanic	-	-	-	-	LGMDR12;LGMD2L	LGMD, myalgia	-	ANO5	2	1	JA Bevilacqua
00412986	-	-	-	-	-	-	-	-	-	-	-	LGMDR12;LGMD2L	-	ANO5	ANO5	1	1	Gisela Gaina
00466360	-	Pending	-	F	-	France	-	-	-	-	-	LGMDR12;LGMD2L	Highly elevated creatine kinase Abdominal pain	-	ANO5	2	1	Camille Verebi

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Global Variome shared LOVD

GRAMD1A (GRAM domain containing 1A)