Disease #05056

Official abbreviation	BMKS
Name	Burn-McKeown syndrome (BMKS)
OMIM ID	608572
Human Phenotype Ontology Project (HPO)	HPO
Individuals reported having this disease	14
Phenotype entries for this disease	14
Associated with 1 gene	TXNL4A
Associated tissues	-
Disease features	-
Remarks	-

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:

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

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))
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. African, white, gypsy, jew (Ashkenazi), Sardinian, etc.

Age/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.

14 entries on 1 page. Showing entries 1 - 14.

Legend

Individual ID	ID_report	Reference	Remarks	Gender	Consanguinity	Country	Population	Age/Death	Data_av	Treatment	Disease	Phenotype details	Genes screened	Variants in genes	Variants	Panel size	Owner
00103805	-	Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia	-	F	no	-	-	-	-	-	BMKS	-	TXNL4A	TXNL4A	2	4	Jacqueline Goos
00103808	-	Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia	-	M	no	-	-	-	-	-	BMKS	-	TXNL4A	TXNL4A	1	1	Jacqueline Goos
00103810	-	Goos Identification of causative variants in TXNL4A in Burn-McKeown Syndrome and isolated choanal atresia	-	M	yes	-	-	-	-	-	BMKS	-	TXNL4A	TXNL4A	1	1	Jacqueline Goos
00103846	25434003-FamBMKS001	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	Germany	-	-	-	-	BMKS	see paper; …	TXNL4A	TXNL4A	2	2	Johan den Dunnen
00103847	25434003-FamBMKS002	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	Switzerland	-	-	-	-	BMKS	see paper; …, initial clinical diagnosis of Treacher Collins syndrome	TXNL4A	TXNL4A	2	1	Johan den Dunnen
00103848	25434003-FamBMKS003	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	-	-	-	Turkey	-	-	-	-	BMKS	see paper; …	TXNL4A	-	0	1	Johan den Dunnen
00103849	25434003-FamBMKS004	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Viet Nam	-	-	-	-	BMKS	see paper; …	TXNL4A	ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, PARD6G-AS1, PQLC1, RBFA, RBFADN, TXNL4A	2	1	Johan den Dunnen
00103850	25434003-FamBMKS005	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	Pakistan	-	-	-	-	BMKS	see paper; …	TXNL4A	TXNL4A	2	1	Johan den Dunnen
00103851	25434003-FamBMKS006	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	no	Netherlands	-	-	-	-	BMKS	see paper; …	TXNL4A	TXNL4A	2	1	Johan den Dunnen
00103852	25434003-FamBMKS007	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 2 affected brothers, unaffected heterozygous carrier parents	M	no	United Kingdom (Great Britain)	-	-	-	-	BMKS	see paper; …	TXNL4A	ADNP2, ATP9B, CTDP1, HSBP1L1, KCNG2, NFATC1, PARD6G, PARD6G-AS1, PQLC1, RBFA, RBFADN, TXNL4A	2	2	Johan den Dunnen
00103853	25434003-FamBMKS008	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	multi-generation family, >5 affected, unaffected heterozygous carrier parents/relatives	M	-	-	Alaska	-	-	-	BMKS	see paper; …	TXNL4A	TXNL4A	2	5	Johan den Dunnen
00103854	25434003-FamBMKS009	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	yes	United Kingdom (Great Britain)	-	-	-	-	BMKS	see paper; …	TXNL4A	TXNL4A	2	1	Johan den Dunnen
00103855	25434003-FamBMKS010	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	no	France	-	-	-	-	BMKS	see paper; …	TXNL4A	TXNL4A	2	1	Johan den Dunnen
00103856	25434003-FamBMKS011	PubMed: Wieczorek 2014, Journal: Wieczorek 2014	-	-	-	Brazil	-	-	-	-	BMKS	see paper; …	TXNL4A	-	0	1	Johan den Dunnen

Legend