Disease #01812 (HYDM1 (mole, hydatidiform, recurrent, type 1 (HYDM-1)), OMIM:231090)

Official abbreviation	HYDM1
Name	mole, hydatidiform, recurrent, type 1 (HYDM-1)
OMIM ID	231090
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal recessive
Individuals reported having this disease	21
Phenotype entries for this disease	21
Associated with 1 gene	NLRP7
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.

How to query this table

All list views have search fields which can be used to search data. You can search for a complete word or you can search for a part of a search term. If you enclose two or more words in double quotes, LOVD will search for the combination of those words only exactly in the order you specify. Note that search terms are case-insensitive and that wildcards such as * are treated as normal text! For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.

Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
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
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

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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21 entries on 1 page. Showing entries 1 - 21.

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
00054739	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	-	Egypt	-	-	-	-	-	HYDM1	reproductive outcome 3 partial hydatidiform moles, several failed assisted reproductive technologies	NLRP7	NLRP7	1	1	Rima Slim
00054740	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	-	France	white	-	-	-	-	HYDM1	reproductive outcome spontaneous abortion, 2 hydatidiform moles, complete hydatidiform mole developing into gestational trophoblastic neoplasia	NLRP7	NLRP7	2	1	Rima Slim
00054741	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	-	France	white	-	-	-	-	HYDM1	reproductive outcome blighted ovum, followed by 3 complete hydatidiform moles	NLRP7	NLRP7	2	1	Rima Slim
00054760	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	?	Iran	Persian	-	-	-	-	HYDM1	reproductive outcome 2 hydatidiform moles, 3 failed assisted reproductive technology attempts, spontaneous abortion	NLRP7	NLRP7	1	1	Rima Slim
00054761	-	PubMed: Reddy 2016, Journal: Reddy 2016	2-generation family, affected female with affected sister, unaffected heterozygous carrier parents	F	?	Egypt	Egyptian	-	-	-	-	HYDM1	reproductive outcome spontaneous abortion, blighted ovum, 4 complete hydatidiform moles	NLRP7	NLRP7	1	2	Rima Slim
00054762	-	PubMed: Reddy 2016, Journal: Reddy 2016	sister	F	?	Egypt	Egyptian	-	-	-	-	HYDM1	reproductive outcome spontaneous abortion, 4 complete hydatidiform moles	NLRP7	NLRP7	1	1	Rima Slim
00054763	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	?	United States	white	-	-	-	-	HYDM1	reproductive outcomes spontaneous abortion (69,XXX), spontaneous abortion (trisomy 9), spontaneous abortion (45,X), spontaneous abortion (69,XXY, digynic)	NLRP7	NLRP7	1	1	Rima Slim
00054764	-	PubMed: Reddy 2016, Journal: Reddy 2016	2-generation family, affected female with affected sister, unaffected heterozygous carrier parents	F	?	Syria	-	-	-	-	-	HYDM1	reproductive outcome 4 hydatidiform moles, intra-cytoplasmic sperm injection-hydatidiform mole, intra-cytoplasmic sperm injection-hydatidiform mole	NLRP7	NLRP7	1	2	Rima Slim
00054765	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	?	Turkey	-	-	-	-	-	HYDM1	reproductive outcomes hydatidiform mole, spontaneous abortion, hydatidiform mole, partial hydatidiform mole, spontaneous abortion, hydatidiform mole, partial hydatidiform mole	NLRP7	NLRP7	1	1	Rima Slim
00054766	-	PubMed: Reddy 2016, Journal: Reddy 2016	2-generation family, affected female with 2 affected sisters, unaffected heterozygous carrier parents	F	?	Turkey	-	-	-	-	-	HYDM1	reproductive outcome hydatidiform mole, live birth, hydatidiform mole, live birth	NLRP7	NLRP7	2	3	Rima Slim
00054767	-	PubMed: Reddy 2016, Journal: Reddy 2016	2-generation family, affected female with affected sister, unaffected heterozygous carrier parents	F	?	Iran	-	-	-	-	-	HYDM1	reproductive outcome 3 hydatidiform moles, hydatidiform mole developing into gestational trophoblastic neoplasia, hydatidiform mole	NLRP7	NLRP7	1	2	Rima Slim
00054768	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	?	Mexico	-	-	-	-	-	HYDM1	reproductive outcomes 3 hydatidiform moles, hydatidiform mole (twins by ultrasound)	NLRP7	NLRP7	2	1	Rima Slim
00054769	-	PubMed: Akoury 2015, Journal: Akoury 2015	2-generation family, unaffected heterozygous carrier parents	F	no	India	-	>27y	-	-	assisted reproductive technology	HYDM1	one hydatidiform mole gave gestational trophoblastic neoplasia; assisted reproductive technology, received donated ovum unrelated woman, normal singleton pregnancy, normal live birth (boy) delivered by Caesarean section; boy now 5y3min good health	NLRP7	NLRP7	2	1	Johan den Dunnen
00054770	-	PubMed: Akoury 2015, Journal: Akoury 2015	2-generation family, unaffected heterozygous carrier parents	F	-	India	-	>27y	-	-	assisted reproductive technology	HYDM1	assisted reproductive technology, received donated ova for in-vitro fertilization, three embryos transferred, triplet pregnancy, one spontaneously lost, normal live birth twin delivered by Caesarean section; twins now 4y good health	NLRP7	NLRP7	1	1	Johan den Dunnen
00054771	-	PubMed: Brown 2013, PubMed: Akoury 2015, Journal: Akoury 2015	-	F	-	-	Europe;Afro-Caribbean	>24y	-	-	-	HYDM1	one complete mole (gestational trophoblastic neoplasia), one partial mole with embryo and fetal crown rump length compatible with gestational age 7w, molar pregnancy non-viable embryo; spontaneous natural conception; delivery 39.5w gestation, healthy boy (APGAR score 9/9) birth weight 3487g, now 1y good health; histopathological evaluation placenta no abnormalities	NLRP7	NLRP7	1	1	Johan den Dunnen
00054772	-	PubMed: Slim 2009, PubMed: Akoury 2015, Journal: Akoury 2015	2-generation family, unaffected heterozygous carrier parents	F	no	India	-	>30y	-	-	-	HYDM1	blighted ovum followed by two hydatidiform moles developing gestational trophoblastic neoplasia; spontaneous conception; anti-epileptic medication during uncomplicated pregnancy, live birth 37.5w gestation (pre-labour rupture membranes, fetus in transverse position) emergency C-section (boy, currently healthy, attends nursery school, normal growth and development; placenta no histopathological abnormalities	NLRP7	NLRP7	7	1	Johan den Dunnen
00054773	-	PubMed: Reddy 2016, Journal: Reddy 2016	sister 1	F	?	Turkey	-	-	-	-	-	HYDM1	reproductive outcomes 2 spontaneous abortions, hydatidiform mole, hydatidiform mole (Dip Bip), spontaneous abortions, hydatidiform mole	NLRP7	NLRP7	2	1	Rima Slim
00054774	-	PubMed: Reddy 2016, Journal: Reddy 2016	sister 2	F	?	Turkey	Turkish	-	-	-	-	HYDM1	reproductive outcomes hydatidiform mole, hydatidiform mole (Dip Bip), hydatidiform mole (Dip Bip XY*)	NLRP7	NLRP7	2	1	Rima Slim
00054775	-	PubMed: Reddy 2016, Journal: Reddy 2016	sister	F	-	Iran	-	-	-	-	-	HYDM1	reproductive outcome 3 hydatidiform moles	NLRP7	NLRP7	1	1	Rima Slim
00054776	-	PubMed: Reddy 2016, Journal: Reddy 2016	-	F	?	Mexico	-	-	-	-	-	HYDM1	reproductive outcomes hydatidiform mole developing into gestational trophoblastic neoplasia, 2 spontaneous abortions, spontaneous abortion (46,XX), 6 spontaneous abortions, partial hydatidiform mole	NLRP7	NLRP7	2	1	Rima Slim
00054779	-	PubMed: Reddy 2016, Journal: Reddy 2016	sister	F	?	Syria	-	-	-	-	-	HYDM1	reproductive outcome 2 hydatidiform moles	NLRP7	NLRP7	1	1	Rima Slim

Legend

How to query

Global Variome shared LOVD

C11orf40 (chromosome 11 open reading frame 40)