Disease #01575 (HHT (telangiectasia hemorrhagic, hereditary (HHT)))

Official abbreviation	HHT
Name	telangiectasia hemorrhagic, hereditary (HHT)
OMIM ID	-
Inheritance	-
Individuals reported having this disease	72
Phenotype entries for this disease	71
Associated with 3 genes	ACVRL1, ENG, GDF2
Associated tissues	-
Disease features	-
Remarks	-
Date created	2014-09-25 23:29:40 +02:00 (CEST)
Date last edited	2021-01-11 15:46:12 +01:00 (CET)

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:

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
	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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72 entries on 1 page. Showing entries 1 - 72.

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
00035680	-	-	-	-	-	Germany	-	-	-	-	-	HHT	suspected Morbus Osler	ENG	ENG	1	1	Andreas Laner
00035681	-	-	-	-	-	Germany	-	-	-	-	-	HHT	suspected Morbus Osler with epistaxis (also familiar), intracranial haemorrhage with 4 arteriovenous malformations	ENG	ENG	1	1	Andreas Laner
00035682	-	-	-	-	-	Germany	-	-	-	-	-	HHT	-	ENG	ENG	1	1	Andreas Laner
00035683	-	-	-	-	-	Germany	-	-	-	-	-	HHT	suspected Morbus Osler	ENG	ENG	1	1	Andreas Laner
00035684	-	-	-	-	-	Germany	-	-	-	-	-	HHT	suspected Morbus Osler with epistaxis (also familiar), intracranial haemorrhage with 4 arteriovenous malformations	ENG	ENG	1	1	Andreas Laner
00035685	-	-	-	-	-	Germany	-	-	-	-	-	HHT	suspected Morbus Osler	ENG	ENG	1	1	Andreas Laner
00035687	-	-	-	-	-	Germany	-	-	-	-	-	HHT	clinical Morbus Osler	ENG	ENG	3	1	Andreas Laner
00035689	-	-	-	-	-	Germany	-	-	-	-	-	HHT	suspected Morbus Osler	ENG	ENG	1	1	Andreas Laner
00038516	-	ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016	-	F	no	France	white	-	-	-	-	?, EIEE, HHT, NPS	bilateral bowed radial diaphyses with absent radial cupules, bilateral coxa valga, fingernail dysplasia, thoraco-lumbar scoliosis with double convexity, leg asymmetry, right foot valgus,instability of the patella, normal renal function, facial dysmorphism including a round face, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, telecanthus, strabismus, dysplastic and low-set ears, bulbous nose, small mouth, thin upper lip, prominent cheeks, and a square chin Growth delay (at age 2 years: weight 3rd centile, length -4 SD and OFC -0.5 SD), hereditary hemorrhagic telangiectasia with recurrent but sporadic epistaxis, tonic-clonic seizures, anterior slow spikes and waves on the EEG, vermis atrophia, central myelination delay, severe psychomotor delay and intellectual disability, cerebellar syndrome, behavioral troubles	ENG, LMX1B, LRSAM1, STXBP1	-	1	1	Sophie Nambot
00038520	-	ASHG2014-307, PubMed: Nambot 2016, Journal: Nambot 2016	-	F	no	France	white	-	-	-	-	?, EIEE, HHT, NPS	facial dysmorphism included brachycephaly, round face, prominent metopic ridge, large and high forehead, highly arched eyebrows, horizontal palpebral fissures, enophtalmia, bulbous nose, small mouth, thin lips, prominent cheeks and square chin Growth delay (at 9.5 years: weight 25th centile, length -2.5 SD, OFC -4 SD), hereditary hemorrhagic telangiectasia with frequent epistaxis at 12y, scoliosis, equinovarus feet, hypoplastic patella, limited elbow extension, hypoplastic nails predominantly affecting the thumbs, no renal disorder, West syndrome with infantile spams and hypsarrhythmia, poly spikes and disorganized pattern on the EEG, cortico-cortical atrophy on the MRI	DNM1, ENG, LMX1B, LRSAM1, SPTAN1, STXBP1	-	1	1	Sophie Nambot
00100507	-	-	-	-	-	Germany	-	-	-	-	-	HHT	-	ENG	ENG	1	1	Gemeinschaftspraxis für Humangenetik Dresden
00207450	30244195-Fam1PatIII2	PubMed: Wooderchak-Donahue 2018	4-generation family, 11 affected (8F, 3M)	F;M	no	United States	-	-	-	-	-	HHT	epistaxis, pulmonary arteriovenous malformation, hepatic arteriovenous malformation	ACVRL1	ACVRL1	1	11	Johan den Dunnen
00207502	30244195-Fam2PatIII1	PubMed: Wooderchak-Donahue 2018	3-generation family, 3 affected (2F, M)	F	-	United States	-	-	-	-	-	HHT	epistaxis, telangiectasia, pulmonary arteriovenous malformation	ACVRL1	ACVRL1	2	3	Johan den Dunnen
00207503	30244195-Pat3	PubMed: Wooderchak-Donahue 2018	-	M	-	United States	-	-	-	-	-	HHT	epistaxis, telangiectasia, pulmonary arteriovenous malformation	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00207504	30244195-Pat4	PubMed: Wooderchak-Donahue 2018	family history	M	-	United States	-	-	-	-	-	HHT	epistaxis, telangiectasia, colon arteriovenous malformation	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00207505	30244195-Pat5	PubMed: Wooderchak-Donahue 2018	family history	F	-	United States	-	-	-	-	-	HHT	epistaxis, telangiectasia, pulmonary arteriovenous malformation, hepatic arteriovenous malformation	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00207506	30244195-Pat6	PubMed: Wooderchak-Donahue 2018	family history	F	-	United States	-	-	-	-	-	HHT	telangiectasia, pulmonary arteriovenous malformation, hepatic arteriovenous malformation	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00207507	30244195-Pat7	PubMed: Wooderchak-Donahue 2018	family history	M	-	United States	-	-	-	-	-	HHT	epistaxis, diffuse arteriovenous malformation	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00207508	30244195-Pat8	PubMed: Wooderchak-Donahue 2018	family history	F	-	United States	-	-	-	-	-	HHT	epistaxis, telangiectasia, pulmonary arteriovenous malformation	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00218666	G1	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218667	G2	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218670	6	Journal: Jelsig 2015	-	M	-	Denmark	(European)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218671	7	Journal: Jelsig 2015	-	M	-	Denmark	(European)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218672	8	Journal: Jelsig 2015	-	M	-	Denmark	(European)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218682	E1	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218683	E2	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218702	2	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218703	14	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218704	brother	Journal: Schwenter 2011	-	M	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218705	father	Journal: Schwenter 2011	-	M	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218706	patient	Journal: Schwenter 2011	-	F	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218722	patient	PubMed: Menko 2014	-	M	-	(Netherlands)	(European)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218730	5	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218731	patient	Journal: Korezenik 2005	-	M	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218734	patient	Journal: Balci 2013	-	F	-	(Turkey)	-	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218775	7	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218776	13	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218778	11	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218782	113-1	Journal: Torring 2013	-	M	-	Denmark	(European)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218810	4	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218811	9	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218813	3	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218814	12	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218821	1	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218822	58-1	Journal: Torring 2013	-	F	-	Denmark	(European)	-	-	-	-	HHT	HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218823	58-2	Journal: Torring 2013	-	M	-	Denmark	(European)	-	-	-	-	HHT	HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218824	58-3	Journal: Torring 2013	-	M	-	Denmark	(European)	-	-	-	-	HHT	HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218843	H1	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218844	H2	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218845	H3	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218846	H4	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218847	H5	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218849	H7	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218850	8	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218851	10	Journal: Schwenter 2012	-	-	-	(Canada)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218904	B1	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218905	B2	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218906	B3	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218907	C1	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218908	D1	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218909	D2	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218910	D3	Journal: O'Malley 2011	-	-	-	(United States)	(American)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00218911	patient	Journal: Sumitomo 2013	-	M	-	(Japan)	(Asian)	-	-	-	-	HHT	JP-HHT	SMAD4	SMAD4	1	1	Karl Heinimann
00269823	Pat6001-1	PubMed: Snellings 2019	-	M	-	Canada	-	57y	-	-	-	HHT	57y-deceased; recurrent epistaxis, telangiectasia; family history	ENG	ENG	1	1	Johan den Dunnen
00269824	Pat6002-1	PubMed: Snellings 2019	-	F	-	Canada	-	-	-	-	-	HHT	recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00269825	Pat6003-1	PubMed: Snellings 2019	-	M	-	Canada	-	-	-	-	-	HHT	recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00269826	Pat6004-1	PubMed: Snellings 2019	-	M	-	Canada	-	-	-	-	-	HHT	recurrent epistaxis, telangiectasia; family history	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00269827	Pat6005-1	PubMed: Snellings 2019	-	M	-	Canada	-	-	-	-	-	HHT	recurrent epistaxis, telangiectasia, visceral arteriovenous malformation, liver arteriovenous malformation, chronic HHT-related GI bleeding; family history	ACVRL1	ACVRL1	1	1	Johan den Dunnen
00320000	-	-	-	-	yes	-	-	-	-	-	-	HHT	-	GDF2	GDF2	1	1	David Moore
00440592	Pat1	PubMed: Xiao 2023	-	-	-	-	-	-	-	-	-	HHT	see paper; ..., classical hereditary hemorrhagic telangiectasia, severe nosebleeds needing blood transfusion and intravenous iron	SMAD4	SMAD4	1	1	Johan den Dunnen
00440593	FamPat2/3	PubMed: Xiao 2023	family, 2 affected relatives	-	-	-	-	-	-	-	-	HHT	see paper; ..., classical hereditary hemorrhagic telangiectasia, daily nosebleeds; one had pulmonary arteriovenous malformations requiring treatment, hemihypertrophy (left-right axis defect)	SMAD4	SMAD4	1	2	Johan den Dunnen
00440594	Pat3	PubMed: Xiao 2023	-	-	-	-	-	-	-	-	-	HHT	see paper; ..., colonic and gastric polyposis, nosebleeds, mucocutaneous telangiectasia, pulmonary AVMs treated by embolization; JPHT family history	SMAD4	SMAD4	1	1	Johan den Dunnen

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Global Variome shared LOVD

SGCA (sarcoglycan, alpha (50kDa dystrophin-associa...))