Disease #05657 (MRKHS (Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS)), OMIM:277000)

Official abbreviation	MRKHS
Name	Mayer-Rokitansky-Kuster-Hauser syndrome (MRKHS)
OMIM ID	277000
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	-
Individuals reported having this disease	29
Phenotype entries for this disease	29
Associated with 0 genes	-
Associated tissues	-
Disease features	-
Remarks	-
Date created	2019-09-30 13:16:32 +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.

How to query this table

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Operator	Column type	Example	Matches
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space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
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
<=	Numeric	<=23	all entries lower than, or equal to, 23
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Some more advanced examples:

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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29 entries on 1 page. Showing entries 1 - 29.

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
00326943	MRK51	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326944	MRK49	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326945	MRK442	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326946	MRK467	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326947	MRK664	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., idiopathic scoliosis	BMP4	BMP4	1	1	Johan den Dunnen
00326948	MRK166	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	BMP4	BMP4	1	1	Johan den Dunnen
00326949	MRK444	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	BMP7	BMP7	1	1	Johan den Dunnen
00326950	MRK342	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	BMP7	BMP7	1	1	Johan den Dunnen
00326951	MRK639	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., vertebral malformation	TBX6	TBX6	1	1	Johan den Dunnen
00326952	MRK106	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., idiopathic scoliosis	HOXA10	HOXA10	1	1	Johan den Dunnen
00326953	MRK271	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	EMX2	EMX2	1	1	Johan den Dunnen
00326954	MRK57	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	WNT9B	WNT9B	1	1	Johan den Dunnen
00326955	MRK236	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326956	MRK283	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326957	MRK330	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326958	SEA13832	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	-	Europe	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326959	BH9080	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	-	Europe	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326960	SEA13831	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	-	Europe	-	-	-	-	MRKHS	see paper; ...	PAX8	PAX8	1	1	Johan den Dunnen
00326962	SEA13834	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	-	Europe	-	-	-	-	MRKHS	see paper; ...	BMP4	BMP4	1	1	Johan den Dunnen
00326963	Mul23_WES	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	-	Asia	-	-	-	-	MRKHS	see paper; ..., unilateral renal agenesis	TBX6	-	1	1	Johan den Dunnen
00326968	MRK431	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., vertebral malformation	TBX6	-	1	1	Johan den Dunnen
00326969	MRK317	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., vertebral malformation	TBX6	-	1	1	Johan den Dunnen
00326970	MRK750	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., idiopathic scoliosis	TBX6	-	1	1	Johan den Dunnen
00326971	MRK283	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., vertebral malformation	TBX6	-	1	1	Johan den Dunnen
00326972	MRK37	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ...	HNF1B, LHX1	RAB3GAP2	2	1	Johan den Dunnen
00326973	MRK301	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	China	Han	-	-	-	-	MRKHS	see paper; ..., idiopathic scoliosis	HNF1B, LHX1	HTT, USH2A	2	1	Johan den Dunnen
00326974	BH9105	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	Germany	-	-	-	-	-	MRKHS	see paper; ...	TBX6	-	1	1	Johan den Dunnen
00326975	BH9106	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	Germany	-	-	-	-	-	MRKHS	see paper; ..., hip dysplasia	TBX6	-	1	1	Johan den Dunnen
00326976	BH9133	PubMed: Chen 2021, Journal: Chen 2021	-	F	-	Germany	-	-	-	-	-	MRKHS	see paper; ...	TBX6	-	1	1	Johan den Dunnen

Legend

How to query

Global Variome shared LOVD