Disease #00130 (PCTT (pancreatitis), OMIM:167800)

Official abbreviation	PCTT
Name	pancreatitis
OMIM ID	167800
Human Phenotype Ontology Project (HPO)	HPO
Inheritance	Autosomal dominant
Individuals reported having this disease	68
Phenotype entries for this disease	59
Associated with 5 genes	CFTR, CTRC, PRSS1, PRSS2, SPINK1
Associated tissues	-
Disease features	-
Remarks	-
Date created	2013-05-14 09:29:20 +02:00 (CEST)
Date last edited	2025-09-05 16:49:18 +02:00 (CEST)

Individuals

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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

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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68 entries on 1 page. Showing entries 1 - 68.

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
00092238	-	PubMed: Tarailo-Graovac 2016, Journal: Tarailo-Graovac 2016	2-generation family, affectedmother and son	F;M	-	United States	-	-	-	-	-	COXPD11, PCTT	pancreatitis, hereditary, severe IDD, congenital lactic acidosis, severe myopathy, hearing loss, renal failure, dysautonomia	PRSS1, RMND1	PRSS1	1	1	Johan den Dunnen
00205023	-	-	-	-	?	-	-	-	-	-	-	PCTT	-	CASR	CASR	1	1	LOVD
00264097	-	-	-	F	?	China	China	30y-40y	-	-	-	PCTT	-	LPL	LPL	1	1	XiaoLei Shi
00387314	-	-	-	F	-	Turkey	Turkey	-	-	yes	-	PCTT	acute pancreatitis (HP:0001735), no steatorrhea (-HP:0002570), no exocrine pancreatic insufficiency (-HP:0001738), no pancreatic calcification (-HP:0005213), no pancreatic pseudocyst (-HP:0005206)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00387690	-	-	-	F	-	Turkey	Turkish	-	-	-	-	PCTT	Abdominal pain (HP:0002027), No Pancreatic calcification (-HP:0005213), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Pancreatic pseudocyst (-HP:0005206), No Steatorrhea (-HP:0002570)	CFTR, CTRC, PRSS1, SPINK1	CFTR, PRSS1	2	1	Hasan Bas
00387691	-	-	-	F	-	Turkey	Turkish	-	-	-	-	PCTT	No Steatorrhea (-HP:0002570), No Pancreatic pseudocyst (-HP:0005206), No Exocrine pancreatic insufficiency (-HP:0001738), No Diabetes mellitus (-HP:0000819), No Abdominal pain (-HP:0002027),	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00387693	-	-	-	M	-	Turkey	Turkish	>41y	-	-	-	PCTT	Steatorrhea (HP:0002570), Exocrine pancreatic insufficiency (HP:0001738), Diabetes mellitus (HP:0000819), Abdominal pain (HP:0002027),	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00387694	-	-	-	M	-	Turkey	Turkish	-	-	-	-	PCTT	No Abdominal pain (-HP:0002027), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00387930	-	-	-	M	-	Turkey	Turkish	-	-	-	-	PCTT	No Abdominal pain (-HP:0002027), Diabetes mellitus (HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00387931	-	-	-	M	-	Turkey	Turkish	-	-	-	-	PCTT	No Abdominal pain (-HP:0002027), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00387932	-	-	-	M	-	Turkey	Turkish	>35y	-	-	-	PCTT	No Abdominal pain (-HP:0002027), No Diabetes mellitus (-HP:0000819), No Exocrine pancreatic insufficiency (-HP:0001738), No Steatorrhea (-HP:0002570)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	2	1	Hasan Bas
00387934	patient	PubMed: Németh 2017 Journal: Németh 2017	-	F	-	Hungary	-	>30y	-	-	-	PCTT	-	CPA1, CTRC, PRSS1, SPINK1	PRSS1, SPINK1	2	1	Hasan Bas
00387949	case	PubMed: Jancsó 2019, Journal: Jancsó 2019	-	F	-	Poland	Poland	-	-	-	-	PCTT	Abnormal thrombosis (HP:0001977), Pancreatitis (HP:0001733),	CFTR, CPA1, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00387981	family	PubMed: Truninger 2001, {DOI:Truninger 2001:11138965:10.1097/00006676-200101000-00003}	5-generation family, 7 affected (5F, 2M)	F;M	-	Germany	-	-	-	-	-	PCTT	pancreatitis (HP:00017339)	PRSS1	PRSS1	1	1	Hasan Bas
00388004	case	PubMed: Chen 2001, Journal: Chen 2001	analysis 221 idiopathic chronic pancreatitis individuals	?	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388007	case	PubMed: Chen 2001 Journal: Chen 2001	analysis 221 idiopathic chronic pancreatitis individuals	-	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388008	case	PubMed: Chen 2001, Journal: Chen 2001	analysis 221 idiopathic chronic pancreatitis individuals	-	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388011	case	PubMed: Chen 2001, Journal: Chen 2001	analysis 221 idiopathic chronic pancreatitis individuals	?	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388012	case	PubMed: Chen 2001, Journal: Chen 2001	analysis 221 idiopathic chronic pancreatitis individuals	?	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388013	case	PubMed: Chen 2001, Journal: Chen 2001	analysis 221 idiopathic chronic pancreatitis individuals	?	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388014	case	analysis 221 idiopathic chronic pancreatitis individuals	-	-	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388015	case	PubMed: Chen 2001, Journal: Chen 2001	analysis 221 idiopathic chronic pancreatitis individuals	?	-	France	-	-	-	-	-	PCTT	-	PRSS1	PRSS1	1	1	Hasan Bas
00388707	-	PubMed: Marfil-Garza 2021, Journal: Marfil-Garza 2021	-	F	-	-	-	-	-	-	-	PCTT	pancreatitis (HP:0001733), ascites (HP:0001541), abdominal distention (HP:0003270), generalized edema (HP:0007430), abdominal pain (HP:0002027), peritonitis (HP:0002586), exocrine pancreatic insufficiency (HP:0001738), pancreatic pseudocyst (HP:0005206),	PRSS1	PRSS1	1	1	Hasan Bas
00388708	case	PubMed: Murali 2021, Journal: Murali 2021	analysis 189 pancreatic ductal adenocarcinoma kindreds	M	-	Australia	-	-	-	-	-	cancer, pancreatic, PCTT	Pancreatic adenocarcinoma (HP:0006725), chronic pancreatitis (HP:0006280)	-	PRSS1	1	2	Hasan Bas
00388709	case	PubMed: Murali 2021, Journal: Murali 2021	analysis 189 pancreatic ductal adenocarcinoma kindreds	F	-	Australia	-	-	-	-	-	cancer, pancreatic, PCTT	Pancreatic adenocarcinoma (HP:0006725), chronic pancreatitis (HP:0006280)	-	PRSS1	1	4	Hasan Bas
00388710	case	PubMed: Ellison 2020, Journal: Ellison 2020	analysis 100 pancreatitis patients	-	-	United States	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CEL, CFTR, CPA1, CTRC, GGT1, PRSS1, SPINK1, UBR1	PRSS1	1	1	Hasan Bas
00388715	case	PubMed: Ellison 2020, Journal: Ellison 2020	analysis 100 pancreatitis patients	-	-	United States	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CEL, CFTR, CPA1, CTRC, GGT1, PRSS1, SPINK1, UBR1	PRSS1	1	1	Hasan Bas
00388716	case	PubMed: Ellison 2020, Journal: Ellison 2020	analysis 100 pancreatitis patients	-	-	United States	-	-	-	-	-	PCTT	-	CEL, CFTR, CPA1, CTRC, GGT1, PRSS1, SPINK1, UBR1	PRSS1	1	1	Hasan Bas
00392813	-	PubMed: Arduino 2005, Journal: Arduino 2005	-	M	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280), pancreatic adenocarcinoma (HP:0006725)	CFTR, PRSS1, SPINK1	PRSS1	1	7	Hasan Bas
00393144	Case #35	PubMed: Hamoir 2013, Journal: Hamoir 2013	-	M	-	Belgium	-	-	-	-	-	PCTT	Pancreatitis (HP:0001733)	CFTR, PRSS1, SPINK1	PRSS1, SPINK1	2	1	Hasan Bas
00393145	Case 1	PubMed: Enea 2019, Journal: Enea 2019	-	F	-	Italy	-	-	-	-	-	PCTT	Pancreatitis (HP:0001733),	PRSS1	PRSS1	1	2	Hasan Bas
00393146	Case 2	PubMed: Enea 2019, Journal: Enea 2019	-	M	-	Italy	-	-	-	-	-	PCTT	abdominal pain (HP:0002027), chronic pancreatitis (HP:0006280), pancreatitis (HP:0001733)	PRSS1	PRSS1	1	2	Hasan Bas
00393199	Case	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	F	-	Austria	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	1	Hasan Bas
00393200	Case	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	F	-	Austria	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	1	Hasan Bas
00393201	Case	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	M	-	Austria	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	1	Hasan Bas
00393202	Case	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	M	-	Austria	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	1	Hasan Bas
00393203	Case	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	M	-	Austria	Italian	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	1	Hasan Bas
00393204	Case	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	F	-	Austria	Turkish	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	1	Hasan Bas
00393209	-	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	-	-	Austria	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	44	Hasan Bas
00393210	-	PubMed: Tautermann 2001, Journal: Tautermann 2001	-	-	-	Austria	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	44	Hasan Bas
00393212	FamPatRD	PubMed: Tautermann 2001, Journal: Tautermann 2001	2-generation family, father	M	-	Austria	Turkish	-	-	-	-	PCTT	abdominal pain (HP:0002027), weight loss (HP:0001824), pancreatic calcification (HP:0005213), abnormal pancreatic duct morphology (HP:0030992)	PRSS1	PRSS1	1	2	Hasan Bas
00393217	case	PubMed: Rosendahl 2013, Journal: Rosendahl 2013	-	?	?	Germany	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00393218	-	PubMed: Rosendahl 2013, Journal: Rosendahl 2013	-	-	-	Germany	-	-	-	-	-	PCTT	Pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	14	Hasan Bas
00393219	-	PubMed: Rosendahl 2013, Journal: Rosendahl 2013	-	-	-	Germany	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	8	Hasan Bas
00393220	-	PubMed: Rosendahl 2013, Journal: Rosendahl 2013	-	-	-	Germany	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00393221	-	PubMed: Rosendahl 2013, Journal: Rosendahl 2013	-	-	-	Germany	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	2	Hasan Bas
00393222	-	PubMed: Rosendahl 2013, Journal: Rosendahl 2013	-	-	-	Germany	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	5	Hasan Bas
00393223	-	PubMed: Rosendahl 2013, Journal: Rosendahl 2013	-	-	-	Germany	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	25	Hasan Bas
00393224	Pat35	PubMed: Sofia 2016, Journal: Sofia 2016	-	?	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	-	CFTR, PRSS1	3	1	Hasan Bas
00393225	Pat29	PubMed: Sofia 2016, Journal: Sofia 2016	-	-	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	-	PRSS1	1	1	Hasan Bas
00393305	Pat4	PubMed: Sofia 2016, Journal: Sofia 2016	-	-	-	Italy	-	-	-	-	-	PCTT	Chronic pancreatitis (HP:0006280)	-	PRSS1	1	1	Hasan Bas
00393306	Pat72	PubMed: Sofia 2016, Journal: Sofia 2016	-	-	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	-	PRSS1	1	1	Hasan Bas
00393307	pat69	PubMed: Sofia 2016, Journal: Sofia 2016	-	-	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	-	CTRC, PRSS1	2	1	Hasan Bas
00393432	Part51	PubMed: Sofia 2016, Journal: Sofia 2016	-	-	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	-	PRSS1	1	1	Hasan Bas
00393433	-	PubMed: Sofia 2016, Journal: Sofia 2016	-	-	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	-	PRSS1	1	2	Hasan Bas
00393434	-	PubMed: Sofia 2016, Journal: Sofia 2016	-	-	-	Italy	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	-	PRSS1	1	2	Hasan Bas
00393435	-	PubMed: Saito 2016, Journal: Saito 2016	-	-	-	Japan	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CPA1, CTRC, PRSS1, SPINK1	PRSS1	1	3	Hasan Bas
00393436	case	PubMed: Saito 2016, Journal: Saito 2016	-	-	-	Japan	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CPA1, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00393437	case	PubMed: Saito 2016, Journal: Saito 2016	-	-	-	Japan	-	-	-	-	-	PCTT	pancreatitis (HP:0001733), abnormal pancreatic duct morphology (HP:0030992)	CPA1, CTRC, PRSS1, SPINK1	PRSS1, SPINK1	2	1	Hasan Bas
00393438	case	PubMed: Saito 2016, Journal: Saito 2016	-	-	-	Japan	-	-	-	-	-	PCTT	pancreatitis (HP:0001733), abnormal pancreatic duct morphology (HP:0030992)	CPA1, CTRC, PRSS1, SPINK1	PRSS1, SPINK1	2	1	Hasan Bas
00393439	case	PubMed: Saito 2016, Journal: Saito 2016	-	-	-	Japan	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CPA1, CTRC, PRSS1, SPINK1	CPA1, PRSS1, SPINK1	3	1	Hasan Bas
00394304	-	PubMed: Saito 2016, Journal: Saito 2016	-	-	-	Japan	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CPA1, CTRC, PRSS1, SPINK1	PRSS1	1	10	Hasan Bas
00394305	-	PubMed: Saito 2016, Journal: Saito 2016	-	-	-	Turkey	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CPA1, CTRC, PRSS1, SPINK1	PRSS1	1	9	Hasan Bas
00394306	case	PubMed: Corleto 2010, Journal: Corleto 2010	-	M	-	Italy	-	-	-	-	-	PCTT	abdominal pain (HP:0002027), nausea (HP:0002018), fever (HP:0001945), leukocytosis (HP:0001974), no pancreatic pseudocyst (-HP:0005206), pancreatitis (HP:0001733), no pancreatic calcification (-HP:0005213), no abnormal pancreatic duct morphology (HP:0030992)	CFTR, CTRC, PRSS1, SPINK1	CFTR, PRSS1	2	1	Hasan Bas
00394468	case	PubMed: Chen 2003, Journal: Chen 2003	-	-	-	France	-	-	-	-	-	PCTT	chronic pancreatitis (HP:0006280)	PRSS1	PRSS1	1	1	Hasan Bas
00394966	case	PubMed: Jalaly 2017, Journal: Jalaly 2017	-	?	-	United States	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00394967	case	PubMed: Jalaly 2017, Journal: Jalaly 2017	-	?	?	United States	-	-	-	-	-	PCTT	pancreatitis (HP:0001733)	CFTR, CTRC, PRSS1, SPINK1	PRSS1	1	1	Hasan Bas
00403822	-	PubMed: Tautermann 2001, Journal: Tautermann 2001	daughter	-	-	Austria	Turkish	-	-	-	-	PCTT	abdominal pain (HP:0002027), no pancreatic calcification (-HP:0005213), no abnormal pancreatic duct morphology (-HP:0030992), no pancreatic pseudocyst (-HP:0005206)	PRSS1	PRSS1	1	1	Hasan Bas

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Global Variome shared LOVD

IRF4 (interferon regulatory factor 4)