Disease #01457 (myotonia congenita, autosomal dominant (Thomsen disease), OMIM:160800)

Official abbreviation	-
Name	myotonia congenita, autosomal dominant (Thomsen disease)
OMIM ID	160800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	37
Phenotype entries for this disease	35
Associated with 1 gene	CLCN1
Associated tissues	-
Disease features	-
Remarks	-

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
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Monaco
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Mongolia
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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
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Nicaragua
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Niger
(Niger)
Nigeria
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Niue
(Niue)
Norfolk Island
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Northern Ireland
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Northern Mariana Islands
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Norway
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Oman
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Pakistan
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Palau
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Palestine
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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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37 entries on 1 page. Showing entries 1 - 37.

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
00029638	-	-	-	F	no	Belgium	Caucasian	-	0	-	-	BRGDA, myotonia congenita, autosomal dominant (Thomsen disease)	-	CCDC60, CLCN1, SCN4A, SCN5A	CLCN1	1	1	Uschi Peeters
00029639	-	-	-	F	no	Belgium	Caucasian	-	0	-	-	BRGDA, myotonia congenita, autosomal dominant (Thomsen disease)	asymptomatic Brugada syndrome	CLCN1, SCN4A, SCN5A	SCN5A	1	1	Uschi Peeters
00081448	-	-	-	M	no	Spain	-	-	0	yes	-	myotonia congenita, autosomal dominant (Thomsen disease)	Generalized muscle hypertrophy Myotonia with warm-up phenomenon	CLCN1	CLCN1	1	1	Carmen Palma
00081450	-	-	-	F	no	Spain	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Myotonia with warm-up phenomenon Muscle stiffness	CLCN1	CLCN1	1	1	Carmen Palma
00081453	-	-	-	M	no	Spain	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	CLCN1	CLCN1	1	1	Carmen Palma
00111710	-	Colding-Jörgensen 2003	warm up fenomeen	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00111714	-	Colding-Jorgensen 2003;Grunnet 2003	warm up effect, percussie myotonie	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00111715	-	de Diego 1999	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00111718	-	de Diego 1999	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00111737	-	Jou 2004	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen?	CLCN1	CLCN1	1	1	Johan den Dunnen
00111744	-	Kubisch 1998	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00111747	-	Kubisch 1998 ref func:Kubisch 1998	dominant shift of po	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00111760	-	Lehmann-Horn 1995; Meyer-Kleine 1995; Koty 1996 ref func:Pusch 1995b; Saviane 1999; Accardi and Pusch 2000	Dominant shift of po, predominant effect on ps	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00111798	53605.1	Leiden, unpublished	-	F	-	Netherlands	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	5	1	Johan den Dunnen
00111805	57741.1	Leiden, unpublished	-	M	-	Netherlands	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	CLCN1	CLCN1	10	1	Johan den Dunnen
00111808	58721.1	Leiden, unpublished	-	M	-	Netherlands	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	CLCN1	CLCN1	12	1	Johan den Dunnen
00111939	55587.1	Leiden, unpublished	-	M	-	Netherlands	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	CLCN1	CLCN1	1	1	Johan den Dunnen
00112011	-	Sasaki 2001	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00112014	-	Simpson 2004	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00112022	-	Steinmeyer 1994; Meyer-Kleine 1995	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00112034	-	Wu 2002	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen?	CLCN1	CLCN1	1	1	Johan den Dunnen
00112037	-	Wu 2002	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen?	CLCN1	CLCN1	1	1	Johan den Dunnen
00112038	-	Wu 2002	-	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen?	CLCN1	CLCN1	1	1	Johan den Dunnen
00112039	-	Wu 2002 ref func:Aromatoris 2001; Kubisch 1998	Dominant shift of po, predominant effect on ps	-	-	-	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Johan den Dunnen
00112084	-	-	-	M	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112086	-	-	-	F	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112102	-	-	-	F	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112112	-	-	-	M	?	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112118	-	-	-	F	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112137	-	-	-	F	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112142	-	-	-	M	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112143	-	-	-	M	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112158	-	-	-	M	-	Italy	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	Thomsen	CLCN1	CLCN1	1	1	Raffaella Brugnoni
00112843	-	Leiden, unpublished	-	-	-	Netherlands	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	SCN4A	SCN4A	6	1	Vincent Janmaat
00112876	-	Leiden, unpublished	-	-	-	Netherlands	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	SCN4A	SCN4A	5	1	Vincent Janmaat
00112877	-	Leiden, unpublished	-	-	-	Netherlands	-	-	0	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	SCN4A	SCN4A	2	1	Vincent Janmaat
00301607	-	-	2 compound heterozygous affected sisters	F	-	Greece	-	-	-	-	-	myotonia congenita, autosomal dominant (Thomsen disease)	-	CLCN1	CLCN1	2	2	Helen Latsoudis

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