Disease #07213 (FMAIT (fetomaternal alloimmune thrombocytopenia))

Official abbreviation	FMAIT
Name	fetomaternal alloimmune thrombocytopenia
OMIM ID	-
Inheritance	-
Individuals reported having this disease	19
Phenotype entries for this disease	11
Associated with 2 genes	ITGA2B, ITGB3
Associated tissues	-
Disease features	-
Remarks	-
Date created	2025-12-10 15:54:10 +01:00 (CET)
Date last edited	2025-12-13 18:58:46 +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
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Antigua and Barbuda
(Antigua and Barbuda)
Argentina
(Argentina)
Armenia
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Aruba
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Australia
(Australia)
Austria
(Austria)
Azerbaijan
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Bahamas
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Bahrain
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Bangladesh
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Barbados
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Belarus
(Belarus)
Belgium
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Belize
(Belize)
Benin
(Benin)
Bermuda
(Bermuda)
Bhutan
(Bhutan)
Bolivia
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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
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Moldova
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Monaco
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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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=""	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'
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\|	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.
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"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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19 entries on 1 page. Showing entries 1 - 19.

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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
00470763	FamPatIII2	PubMed: McFarland 1993, PubMed: Wang 1993	3-generation family, 1 affected, unaffectedheterozygous carrier father	M	-	Canada	Fillipines	-	-	-	-	FMAIT	see paper; ..., neonatal alloimmune thrombocytopenia	ITGB3	ITGB3	1	1	Johan den Dunnen
00470910	PatIII1	PubMed: Sachs 2012	3-generation family, 1 affected, unaffected heterozygous carrier father	M	-	Germany	-	-	-	-	-	FMAIT	see paper; ..., birth-39w, facial petechiae, cephalic haematoma, no intracranial bleeding; pregnancy dalteparin treatment (previous miscarriages 10w, 21w)	ITGB3	ITGB3	1	1	Johan den Dunnen
00470911	Pat1(Sta)	PubMed: Peterson 2010	2-generation family, 1 affected, unaffected heterozygous carrier father	-	-	United States	-	-	-	-	-	FMAIT	see paper; ..., birth-36w ceasarean section (fetal distress during labor), scattered petechial hemorrhages	ITGB3	ITGB3	1	1	Johan den Dunnen
00470912	Pat3(Nos)	PubMed: Peterson 2010	2-generation family, 1 affected, unaffected heterozygous carrier father	-	-	United States	-	-	-	-	-	FMAIT	see paper; ..., birth scattered petechial hemorrhages, PLT count 14×10+9/L	ITGB3	ITGB3	1	1	Johan den Dunnen
00470913	Pat2(Kno)	PubMed: Peterson 2010	2-generation family, 1 affected, unaffected heterozygous carrier father	-	-	United States	-	-	-	-	-	FMAIT	see paper; ..., birth-33w vacuum (premature labor), blood PLT count of 61×10+9/L, petechial hemorrhages	ITGA2B	ITGA2B	1	1	Johan den Dunnen
00470914	patient	PubMed: Sullivan 2017	-	-	-	United States	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470915	patient	PubMed: Holzwarth 2020	-	F	-	Germany	-	-	-	-	-	FMAIT	see paper; ...	ITGB3	ITGB3	1	1	Johan den Dunnen
00470916	patient	PubMed: Simsek 1994	3-generation family, 1 affected, unaffected heterozygous carrier father	M	-	Netherlands	-	-	-	-	-	FMAIT	see paper; ...	ITGB3	ITGB3	3	1	Johan den Dunnen
00470917	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470918	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470919	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470920	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470921	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470922	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470923	patient	-	-	-	-	-	-	-	-	-	-	FMAIT	-	ITGB3	ITGB3	1	1	Johan den Dunnen
00470929	patient	PubMed: Bizarro 1988, PubMed: Kuijpers 1992	2-generation family, 1 affected, unaffected heterozygous carrier father	M	-	Italy	-	-	-	-	-	FMAIT	see paper; ..., thrombocytopenia, amegakaryocytosis; birth-petechiae, no bacteriological signs of sepsis, small hemorrhagic blister on palate, platelet count 6x10+9/L	GP1BA	GP1BA	1	1	Johan den Dunnen
00470930	patient	PubMed: Santoso 1993	-	-	-	Germany	-	-	-	-	-	FMAIT	-	ITGA2	ITGA2	1	1	Johan den Dunnen
00470931	patient	PubMed: Santoso 1999	2-generation family, 1 affected, unaffected heterozygous carrier father	M	-	Germany	-	-	-	-	-	FMAIT	see paper; ..., birth severe thrombocytopenia, platelet count decreased continually below measurable value; 4d-petechiae	ITGA2	ITGA2	1	1	Johan den Dunnen
00470939	control	PubMed: Schuh 2002	-	-	-	Canada	-	-	-	-	-	FMAIT	see paper; ..., refractoriness to platelet transfusion, neonatal alloimmune thrombocytopenia, posttransfusion purpura	CD109	CD109	1	3	Johan den Dunnen

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Global Variome shared LOVD

ATP2B1 (ATPase, Ca++ transporting, plasma membrane 1)