Disease #00469 (HPS (Hermansky-Pudlak syndrome))

Official abbreviation	HPS
Name	Hermansky-Pudlak syndrome
OMIM ID	-
Inheritance	-
Individuals reported having this disease	49
Phenotype entries for this disease	49
Associated with 5 genes	HPS1, HPS3, HPS4, HPS5, HPS6
Associated tissues	-
Disease features	-
Remarks	-

Individuals

Legend

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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
>	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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49 entries on 1 page. Showing entries 1 - 49.

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
00019454	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS5	HPS5	1	1	William (Bill) Oetting
00019457	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS5	HPS5	1	1	William (Bill) Oetting
00019458	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS5	HPS5	1	1	William (Bill) Oetting
00019459	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS5	HPS5	1	1	William (Bill) Oetting
00019460	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS5	HPS5	1	1	William (Bill) Oetting
00019461	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS5	HPS5	1	1	William (Bill) Oetting
00019462	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS5	HPS5	1	1	William (Bill) Oetting
00019463	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS4	HPS4	1	1	William (Bill) Oetting
00019464	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS4	HPS4	1	1	William (Bill) Oetting
00019465	family	PubMed: Schreyer-Shafir 2006	5-generation family, 20 affected (14F, 6M), unaffected heterozygous carrier parents/relatives	F;M	-	Israel	Bedioun	-	-	-	-	HPS	see paper; ...	HPS6	HPS6	1	1	William (Bill) Oetting
00019466	patient	PubMed: Zhang 2003	2-generation family, affected sister/brother, unaffected heterozygous carrier parents	F	-	Belgium	-	-	-	-	-	HPS	see paper; ..., oculocutaneous albinism, frequent prolonged nosebleeds, prolonged bleeding after dental extractions and surgery, no pulmonary or gastrointestinal symptoms, platelet count normal	HPS6	HPS6	1	2	William (Bill) Oetting
00019467	HPS51	PubMed: Huizing 2009	-	F	-	Germany;Ireland	-	-	-	-	-	HPS	see paper; ...	HPS6	HPS6	1	1	William (Bill) Oetting
00019468	HPS115	PubMed: Huizing 2009	-	F	-	Germany;Netherlands	-	-	-	-	-	HPS	see paper; ...	HPS6	HPS6	2	1	William (Bill) Oetting
00019469	HPS107	PubMed: Huizing 2009	-	M	-	England;Germany;Scotland	-	-	-	-	-	HPS	see paper; ...	HPS6	HPS6	2	1	William (Bill) Oetting
00019470	HPS178	PubMed: Huizing 2009	affected man and 2 sisters	M	-	Italy	-	-	-	-	-	HPS	see paper; ...	HPS6	HPS6	2	3	William (Bill) Oetting
00019471	-	-	-	-	-	Turkey	-	-	-	-	-	HPS	-	HPS5	HPS5	2	1	William (Bill) Oetting
00019472	-	-	-	-	-	Germany	-	-	-	-	-	HPS	-	HPS4	HPS4	2	1	William (Bill) Oetting
00019473	-	-	-	-	-	Germany	-	-	-	-	-	HPS	-	HPS4	HPS4	2	1	William (Bill) Oetting
00019474	-	-	-	-	-	Germany	-	-	-	-	-	HPS	-	HPS4	HPS4	1	1	William (Bill) Oetting
00019475	-	-	3 unrelated families	-	-	Italy	-	-	-	-	-	HPS	-	HPS4	HPS4	2	3	William (Bill) Oetting
00019476	-	-	-	-	-	Netherlands	-	-	-	-	-	HPS	-	HPS4	HPS4	1	1	William (Bill) Oetting
00019477	-	-	-	-	-	Sri Lanka	-	-	-	-	-	HPS	-	HPS4	HPS4	2	1	William (Bill) Oetting
00019478	-	-	-	-	-	-	-	-	-	-	-	HPS	-	HPS4	HPS4	2	1	William (Bill) Oetting
00019479	-	PubMed: Anikster 2001	2-generation family, 5 affecteds (2F, 3M), unaffected heterozygous carrier parents	F;M	yes	Puerto Rico	-	-	-	-	-	HPS	see paper; ...	HPS3	HPS3	1	5	William (Bill) Oetting
00019480	-	PubMed: Huizing 2001	-	F	no	Italy;Puerto Rico	-	-	-	-	-	HPS	see paper; ...	HPS3	HPS3	1	1	William (Bill) Oetting
00019481	-	PubMed: Huizing 2001	-	F	-	United States	Jewish-Ashkenazi	-	-	-	-	HPS	see paper; ...	HPS3	HPS3	1	1	William (Bill) Oetting
00019482	-	PubMed: Huizing 2001	-	F	-	United States	Jewish-Ashkenazi	-	-	-	-	HPS	see paper; ...	HPS3	HPS3	2	1	William (Bill) Oetting
00019483	-	PubMed: Huizing 2001	-	F	no	Germany;Ireland	Jewish-Ashkenazi	-	-	-	-	HPS, JBS;11q	see paper; ...	HPS3	HPS3	3	1	William (Bill) Oetting
00019484	-	PubMed: Huizing 2001	-	M	-	Germany;Switzerland	-	-	-	-	-	HPS	see paper; ...	HPS3	HPS3	2	1	William (Bill) Oetting
00019485	-	PubMed: Huizing 2001	-	M	-	Ireland	-	-	-	-	-	HPS	see paper; ...	HPS3	HPS3	1	1	William (Bill) Oetting
00019486	-	-	family, 2 affecteds	-	-	Netherlands	white	-	-	-	-	HPS	-	AP3B1	AP3B1	2	2	William (Bill) Oetting
00019487	-	-	-	-	-	-	-	-	-	-	-	HPS	-	AP3B1	AP3B1	2	1	William (Bill) Oetting
00019488	-	-	-	-	-	United States	American, native, Houma Indian	-	-	-	-	HPS	-	AP3B1	AP3B1	2	1	William (Bill) Oetting
00019489	-	PubMed: Kotzot 1994	-	-	-	Turkey	-	-	-	-	-	HPS	-	AP3B1	AP3B1	2	1	William (Bill) Oetting
00019490	-	-	-	-	-	-	-	-	-	-	-	HPS	lethal hemophagocytic lymphohistiocytosis	AP3B1	AP3B1	2	1	William (Bill) Oetting
00019491	-	-	-	-	-	Portugal	-	-	-	-	-	HPS	-	DTNBP1	DTNBP1	2	1	William (Bill) Oetting
00019492	-	-	-	-	-	Pakistan	-	-	-	-	-	HPS	-	BLOC1S3	BLOC1S3	2	1	William (Bill) Oetting
00019493	-	-	-	-	-	India	-	-	-	-	-	HPS	-	BLOC1S6	BLOC1S6	2	1	William (Bill) Oetting
00090119	-	PubMed: Anikster 2001	3-generation family, 5 affecteds (3F, 2M), unaffected heterozygous carrier parents	F;M	-	Puerto Rico	-	-	-	-	-	HPS	see paper; …	HPS3	HPS3	1	5	William (Bill) Oetting
00090120	-	PubMed: Anikster 2001	2-generation family, 2 affected sisters, unaffected heterozygous carrier parents	F	-	Puerto Rico	-	-	-	-	-	HPS	see paper; …	HPS3	HPS3	1	2	William (Bill) Oetting
00090121	-	PubMed: Anikster 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents	M	-	Puerto Rico	-	-	-	-	-	HPS	see paper; …	HPS3	HPS3	1	1	William (Bill) Oetting
00090122	-	PubMed: Anikster 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Puerto Rico	-	-	-	-	-	HPS	see paper; …	HPS3	HPS3	1	1	William (Bill) Oetting
00090123	-	PubMed: Anikster 2001	2-generation family, 1 affected, unaffected heterozygous carrier parents	F	-	Puerto Rico	-	-	-	-	-	HPS	see paper; …	HPS3	HPS3	1	1	William (Bill) Oetting
00090124	-	PubMed: Huizing 2001	-	F	-	United States	Jewish-Ashkenazi	-	-	-	-	HPS	see paper; …	HPS3	HPS3	1	1	William (Bill) Oetting
00090125	-	PubMed: Huizing 2001	-	F	-	United States	Jewish-Ashkenazi	-	-	-	-	HPS	see paper; …	HPS3	HPS3	1	1	William (Bill) Oetting
00218606	patient	Journal: Jelsig 2016	-	-	-	(Denmark)	(European)	-	-	-	-	HPS	HPS	BMPR1A	BMPR1A	1	1	Karl Heinimann
00218607	patient	Journal: Jelsig 2016	-	-	-	(Denmark)	(European)	-	-	-	-	HPS	HPS	BMPR1A	BMPR1A	1	1	Karl Heinimann
00218753	patient	Journal: Jelsig 2016	-	-	-	(Denmark)	(European)	-	-	-	-	HPS	HPS	SMAD4	SMAD4	1	1	Karl Heinimann
00379684	IR_GH_0075	-	-	F	-	Korea, South (Republic)	-	-	-	-	-	HPS	HP:0032122, HP:0000613, HP:0001123, HP:0000639, HP:0000007, HP:0007443, HP:0007750, HP:0000978	-	HPS5	2	1	Jinu Han

Legend

How to query

Global Variome shared LOVD