Disease #01497 (BCPM;HHD (pemphigus, chronic, benign (BCPM, Hailey-Hailey disease (HHD))), OMIM:169600)

Official abbreviation	BCPM;HHD
Name	pemphigus, chronic, benign (BCPM, Hailey-Hailey disease (HHD))
OMIM ID	169600
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	245
Phenotype entries for this disease	226
Associated with 1 gene	ATP2C1
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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Operator	Column type	Example	Matches
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\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
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^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
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=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
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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
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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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245 entries on 3 pages. Showing entries 1 - 100.

	Legend	How to query	« First	‹ Prev		1	2	3		Next ›	Last »

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
00055076	-	-	Family HHD-Cl	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055077	-	-	Family HHD-Sa	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055078	-	-	Family HHD-Ko	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055079	-	-	Family HHD-Co	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055080	-	-	Family HHD-Mk	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055081	-	-	Family HHD-Wo	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055082	-	-	Family HHD-Bl	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055083	-	-	Family HHD-Go	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055084	-	-	Family HHD-Sk	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055085	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055086	-	-	Family JHHD-Ka/ JHHD-4	-	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055087	-	-	Family HHD-We	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055088	-	-	Family HHD-Du	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055089	-	-	Family HHD-Bu	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055090	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055091	-	-	Family HHD-Br	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055092	-	-	Family HHD-Pa	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055093	-	-	-	F	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055094	-	-	Family HHD-Pk	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055095	-	-	Family FR2	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055096	-	-	Family NC2	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055097	-	-	Family FR3	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055098	-	-	Family NC1	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055099	-	-	Family OX5	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055100	-	-	Family SL1	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055101	-	-	Family OX1	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055102	-	-	Family FR1	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055103	-	-	Family OX4	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055104	-	-	Family SL2	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055105	-	-	Family OX3	-	-	-	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055106	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055107	-	-	Family OX8, 9 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055108	-	-	Family OX21	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055109	-	-	Family OX22, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055110	-	-	Family NC8, 2 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055111	-	-	Family OX11, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055112	-	-	Family NC9	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055113	-	-	Family OX12, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055114	-	-	Family OX18, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055115	-	-	-	-	-	India	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055116	-	-	Family NC5, 2 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055117	-	-	Family OX10, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055118	-	-	Family NC3, 2 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055119	-	-	Family OX19, 1 affected	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055120	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055121	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055122	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055123	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055124	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055125	-	-	-	F	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055126	-	-	-	F	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055127	-	-	Family JHHD-10	-	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055128	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055129	-	-	Family 2, 5 affected	-	-	Taiwan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055130	-	-	-	-	-	Taiwan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055131	-	-	Family 5, 2 affected	-	-	Taiwan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055132	-	-	Family 6, 11 affected	-	-	Taiwan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055133	-	-	Family 7, 3 affected	-	-	Taiwan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055134	-	-	-	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055135	-	-	-	F	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055136	-	-	-	F	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055137	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055138	-	-	-	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055139	-	-	Family OX27	-	-	United Kingdom (Great Britain)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055140	-	-	-	F	-	Germany	-	-	-	-	-	BCPM;HHD	Type 2 segmental Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055141	-	-	-	F	-	Hungary	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055142	-	-	Family FHHD-2	M	-	Italy	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055143	-	-	-	F	-	Italy	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055144	-	-	-	M	-	Italy	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055145	-	-	-	F	-	Italy	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055146	-	-	-	-	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055147	-	-	Family A	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055148	-	-	Family B	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055149	-	-	-	M	-	(Japan)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055150	-	-	-	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055151	-	-	-	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055152	-	-	Family HHD-6	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055153	-	-	Family HHD-9	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055154	-	-	Family HHD-16	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055155	-	-	Family HHD-11	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055156	-	-	Family HHD-17	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055157	-	-	Family HHD-14	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055158	-	-	Family HHD-13	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055159	-	-	-	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055160	-	-	Family FHHD-2	-	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055161	-	-	Family FHHD-1	F	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055162	-	-	-	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055163	-	-	-	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055164	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055165	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055166	-	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055167	-	-	-	-	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055168	-	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055169	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055170	-	-	-	M	-	Japan	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055171	-	-	-	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055172	-	-	Family 1	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055173	-	-	Family 2	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055174	-	-	-	M	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel
00055175	-	-	-	F	-	China	-	-	-	-	-	BCPM;HHD	Hailey-Hailey disease	ATP2C1	ATP2C1	1	1	Michel van Geel

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Global Variome shared LOVD

HLA-DQB1 (major histocompatibility complex, class I...)