PCTT
MCID: PNC108
MIFTS: 58

Pancreatitis, Hereditary (PCTT) malady

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Bone diseases, Immune diseases

Aliases & Classifications for Pancreatitis, Hereditary

About this section
Sources:
2CDC, 12diseasecard, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 52 70 12
Hereditary Pancreatitis 48 24 25 27 68
Hereditary Chronic Pancreatitis 48 25 54
Chronic Pancreatitis 24 70 50
Autosomal Dominant Hereditary Pancreatitis 25 68
Pancreatitis, Chronic, Protection Against 52 24
Pancreatitis, Chronic, Susceptibility to 24 27
Pancreatitis, Chronic 52 68
Pctt 24 70
 
Hp 25 70
Pancreatitis, Idiopathic 52
Pancreatitis Hereditary 50
Pancreatitis, Calcific 68
Familial Pancreatitis 25
Calcific Pancreatitis 24
Hps 2
Hpc 70
Cp 70

Characteristics:

Orphanet epidemiological data:

54
hereditary chronic pancreatitis:
Inheritance: Autosomal dominant; Prevalence: 1-9/1000000 (France),1-9/1000000 (Denmark),1-9/1000000 (Europe); Age of onset: Adolescent,Childhood; Age of death: elderly

HPO:

64
pancreatitis, hereditary:
Inheritance: autosomal dominant inheritance

Classifications:



External Ids:

OMIM52 167800
Orphanet54 ORPHA676
UMLS via Orphanet69 C0341474
ICD10 via Orphanet31 K86.1
MeSH39 D010195

Summaries for Pancreatitis, Hereditary

About this section
NIH Rare Diseases:48 Hereditary pancreatitis is a rare genetic condition that causes multiple episodes of pancreatitis. the first episode of pancreatitis usually occurs in late childhood. signs and symptoms may include stomach pain, fever, nausea, or vomiting. episodes often lasts from one to three days, but may be longer. repeat episodes of pancreatitis leads to chronic pancreatitis (a constantly inflamed pancreas), calcium deposits in the pancreas, and over years, pancreas scarring. at this stage signs and symptoms may include fatty stool, weight loss, and protein and vitamin deficiencies. people with hereditary pancreatitis are also at an increased risk for type 1 diabetes and pancreatic cancer, typically in adulthood. in most cases, hereditary pancreatitis is caused by mutations in the prss1 gene and passed through families in an autosomal dominant pattern. while there is not a cure for hereditary pancreatitis, treatments are available (visit the pancreas foundation to learn more about treatment). with treatment people with hereditary pancreatitis tend to have a normal life expectancy.  last updated: 1/20/2016

MalaCards based summary: Pancreatitis, Hereditary, also known as hereditary pancreatitis, is related to gastritis and prss1-related hereditary pancreatitis, and has symptoms including Array, Array and Array. An important gene associated with Pancreatitis, Hereditary is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways are Gastric acid production and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include pancreas, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:25 Hereditary pancreatitis is a genetic condition characterized by recurrent episodes of inflammation of the pancreas (pancreatitis). The pancreas produces enzymes that help digest food, and it also produces insulin, a hormone that controls blood sugar levels in the body. Episodes of pancreatitis can lead to permanent tissue damage and loss of pancreatic function.

CDC:2 Infection with hantavirus can progress to Hantavirus Pulmonary Syndrome (HPS), which can be fatal. People become infected through contact with hantavirus-infected rodents or their urine and droppings. The Sin Nombre hantavirus, first recognized in 1993, is one of several New World hantaviruses circulating in the US. Old World hantaviruses, including Seoul virus, are found across the world and can cause Hemorrhagic Fever with Renal Syndrome (HFRS). Rodent control in and around the home remains the primary strategy for preventing hantavirus infection. All cases of Hantavirus infection are reported to the CDC.

UniProtKB/Swiss-Prot:70 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.

Wikipedia:71 Hereditary pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was... more...

Description from OMIM:52 167800

Related Diseases for Pancreatitis, Hereditary

About this section

Diseases in the Pancreatitis family:

pancreatitis, hereditary Acute Pancreatitis
Prss1-Related Hereditary Pancreatitis Autoimmune Pancreatitis
Cftr-Related Hereditary Pancreatitis Ctrc-Related Hereditary Pancreatitis
Spink1-Related Hereditary Pancreatitis Autoimmune Pancreatitis Type 2
Autoimmune Pancreatitis Type 1 Recurrent Acute Pancreatitis

Diseases related to Pancreatitis, Hereditary via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 96)
idRelated DiseaseScoreTop Affiliating Genes
1gastritis29.8PRSS1, PRSS2
2prss1-related hereditary pancreatitis11.9
3hantavirus pulmonary syndrome11.9
4cftr-related hereditary pancreatitis11.8
5ctrc-related hereditary pancreatitis11.8
6spink1-related hereditary pancreatitis11.8
7pancreatic cancer11.7
8aceruloplasminemia11.7
9hermansky-pudlak syndrome 211.5
10cerebral palsy11.4
11hermansky-pudlak syndrome 111.4
12hermansky-pudlak syndrome11.3
13hermansky-pudlak syndrome 311.3
14hermansky-pudlak syndrome 711.3
15hermansky-pudlak syndrome 611.3
16hermansky-pudlak syndrome 511.3
17hermansky-pudlak syndrome 911.3
18hermansky-pudlak syndrome 811.3
19hermansky-pudlak syndrome 411.3
20carbamoylphosphate synthetase i deficiency11.1
21central pain syndrome11.0
22liver disease11.0
23hemangiopericytoma, malignant10.9
24tropical calcific pancreatitis10.8
25yorifuji okuno syndrome10.7
26ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss10.7
27hemophagocytic lymphohistiocytosis10.7
28extrinsic allergic alveolitis10.7
29hermansky-pudlak syndrome without pulmonary fibrosis10.7
30hermansky-pudlak syndrome with pulmonary fibrosis10.7
31hemiparkinsonism-hemiatrophy syndrome10.7
32cavernous sinus thrombosis10.3PRSS1, SPINK1
33deafness, autosomal dominant 4410.3PRSS1, PRSS3
34lethal hydranencephaly-diaphragmatic hernia syndrome10.3ADH1B, ADH1C
35tricuspid valve insufficiency10.3CCK, PRSS1, SCT
36gastrointestinal neuroendocrine benign tumor10.2CCK, SCT
37autosomal dominant intermediate charcot-marie-tooth10.2CFTR, PRSS1
38fibrosis of extraocular muscles, congenital, 3c10.2CFTR, PNLIP, SCT, SPINK1
39intracranial berry aneurysm10.2PRSS1, PRSS3
40hyperkeratosis lenticularis perstans10.2BLOC1S3, BLOC1S6
41primary congenital glaucoma10.2CFTR, CTRC, PRSS1, PRSS2, SPINK1
42female stress incontinence10.2CCK, CFTR, PNLIP, SCT
43myxofibrosarcoma10.2CFTR, CTRC, PRSS1, SCT, SPINK1
44acute gonococcal cervicitis10.2CCK, PNLIP, PRSS1, SCT
45short bowel syndrome10.2CCK, CFTR, PNLIP, SCT
46retinitis pigmentosa 2910.2ADH1B, ADH1C
47cervical adenomyoma10.2ADH1B, CCK, CFTR, PRSS1, SPINK1
48diastrophic dysplasia10.1CTRC, PRSS1, PRSS2, REG1A, SPINK1
49leukorrhea10.1BLOC1S3, BLOC1S6, DTNBP1
50chondroma10.1CCK, PRSS1, REG3A, SCT, SPINK1

Comorbidity relations with Pancreatitis, Hereditary via Phenotypic Disease Network (PDN):


Hypertension, EssentialChylomicron Retention Disease
Pancreatic CancerDeficiency Anemia
Alcohol AbuseChronic Kidney Failure
Chronic Myocardial IschemiaIschemic Heart Disease
Heart DiseaseProtein-Energy Malnutrition
EsophagitisAcute Cystitis
CholestasisAcute Pancreatitis
Active Peptic Ulcer DiseaseIntestinal Obstruction
Paralytic IleusCholangitis

Graphical network of the top 20 diseases related to Pancreatitis, Hereditary:



Diseases related to pancreatitis, hereditary

Symptoms & Phenotypes for Pancreatitis, Hereditary

About this section

Symptoms by clinical synopsis from OMIM:

167800

Clinical features from OMIM:

167800

Human phenotypes related to Pancreatitis, Hereditary:

 54 64 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 leukocytosis54 Very frequent (99-80%)
2 abdominal pain64 54 Very frequent (99-80%) HP:0002027
3 elevated c-reactive protein level54 Very frequent (99-80%)
4 recurrent pancreatitis54 Very frequent (99-80%)
5 abnormal enzyme/coenzyme activity54 Frequent (79-30%)
6 diabetes mellitus64 54 Occasional (29-5%) HP:0000819
7 jaundice54 Occasional (29-5%)
8 pancreatic calcification64 54 Occasional (29-5%) HP:0005213
9 splanchnic vein thrombosis54 Occasional (29-5%)
10 pancreatitis64 HP:0001733
11 exocrine pancreatic insufficiency64 HP:0001738
12 fever64 HP:0001945
13 abnormal thrombosis64 HP:0001977
14 pleural effusion64 HP:0002202
15 steatorrhea64 HP:0002570
16 pancreatic pseudocyst64 HP:0005206

MGI Mouse Phenotypes related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.5ADH1C, BLOC1S6, BRCA2, CCK, CFTR, DTNBP1

Drugs & Therapeutics for Pancreatitis, Hereditary

About this section

Drugs for Pancreatitis, Hereditary (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50)    (show all 190)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
PancrelipaseapprovedPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 197053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
PA
 
Pancreatic alpha-amylase precursor
Pancrelipase (amylase
lipase
protease)
2
Octreotideapproved, investigationalPhase 422383150-76-9383414, 6400441
Synonyms:
(4R,7S,10S,13R,16S,19R)-10-(4-aminobutyl)-19-[[(2R)-2-amino-3-phenylpropanoyl]amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-[(1R)-1-hydroxyethyl]-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-Aminobutyl)-19-((2-amino-3-phenylpropanoyl)amino)-16-benzyl-7-(1-hydroxyethyl)-N-(2-hydroxy-1-(hydroxymethyl)propyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentaa
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-(1,3-dihydroxybutan-2-yl)-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
10-(4-aminobutyl)-19-[(2-amino-3-phenylpropanoyl)amino]-16-benzyl-N-[(2R,3R)-1,3-dihydroxybutan-2-yl]-7-(1-hydroxyethyl)-13-(1H-indol-3-ylmethyl)-6,9,12,15,18-pentaoxo-1,2-dithia-5,8,11,14,17-pentazacycloicosane-4-carboxamide
79517-01-4 (acetate salt)
83150-76-9
AC1L1GVU
AC1L8LCD
AC1L9M4X
C07306
C5H12O2.C4H10
CHEBI:427278
CHEBI:611465
CHEMBL1680
CID383414
CID448601
CID54374
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-L-cysteinyl-L-threoninol cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2-7)-disulfide
D-Phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L-threonyl-N-((1R,2R)-2-hydroxy-1-(hydroxymethyl)propyl)-L-cysteinamide cyclic (2->7)-disulfide
D00442
DRG-0115
HMS2090C09
HS-2020
 
L-Cysteinamide, D-phenylalanyl-L-cysteinyl-L-phenylalanyl-D-tryptophyl-L-lysyl-L- threonyl-N-(2-hydroxy-1-(hydroxymethyl)propyl)-, cyclic (2->7)-disulfide, (R-(R*
L000453
LS-177735
LS-187135
Longastatin
NCGC00181796-01
NCI60_025753
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate
3
SomatostatinapprovedPhase 423738916-34-6, 51110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
4
Dexmedetomidineapproved, vet_approvedPhase 459276631-46-4, 113775-47-668602, 5311068, 56032
Synonyms:
(+)-4-((S)-alpha,2,3-Trimethylbenzyl)imidazole
(+)-4-((S)-alpha,2,3-trimethylbenzyl)imidazole
(+)-medetomidine
(S)-medetomidine
113775-47-6
4-[(1S)-1-(2,3-Dimethylphenyl)ethyl]-1H-imidazole
4-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
5-[(1S)-1-(2,3-dimethylphenyl)ethyl]-1H-imidazole
AC1NSJXT
C07450
CHEBI:4466
CHEMBL778
CID5311068
D00514
DEXMEDETOMIDINE
 
Dexdor (T)
Dexmedetomidin
Dexmedetomidina
Dexmedetomidine
Dexmedetomidine (USAN/INN)
Dexmedetomidinum
Dexmédétomidine
MPV 1440
MPV-1440
Medetomidina [Spanish]
Medetomidine
Medetomidinum [Latin]
NCGC00025347-01
PRECEDEX
Precedex (TN)
Tocris-2023
ZINC04632106
5
Propofolapproved, investigational, vet_approvedPhase 410822078-54-84943
Synonyms:
2, 6-Diisopropylphenol
2,6 Diisopropylphenol
2,6-Bis(1-methylethyl)phenol
2,6-Bis(Isopropyl)-phenol
2,6-DIISOPROPYLPHENOL
2,6-Diisopropyl phenol
2,6-Diisopropylphenol
2,6-bis(1-methylethyl)-phenol
2,6-di(propan-2-yl)phenol
2078-54-8
28449-97-0
4-06-00-03435 (Beilstein Handbook Reference)
50356-15-5
AB00513968
AC-2038
AC1L1J9Y
AC1Q1OUI
AI3-26295
AM-149
Abbott Brand of Propofol
Alpha Brand of Propofol
Ampofol
Aquafol
Astra Brand of Propofol
AstraZeneca Brand of Propofol
BIDD:GT0436
BPBio1_000950
BPBio1_000969
BRD-K82255054-001-03-5
BRN 1866484
BSPBio_000862
Biomol-NT_000248
Braun Brand of Propofol
C07523
C12H18O
CAS-2078-54-8
CCRIS 9000
CHEBI:44915
CHEMBL526
CID4943
CPD-11437
CPD000059151
Curamed Brand of Propofol
D00549
D015742
D0617
D126608
D126608_ALDRICH
DB00818
DDS-04F
Diisopropylphenol
Dipravan
Diprivan
Diprivan (TN)
Diprivan Injectable emulsion
Disoprivan
Disoprofol
EINECS 218-206-6
EU-0100437
Fresenius Brand of Propofol
Fresenius Kabi Brand of Propofol
Fresofol
HMS1570L04
HMS2089O21
HMS2094E17
 
HSDB 7123
ICI 35,868
ICI 35868
ICI-35,868
ICI-35868
ICI35,868
ICI35868
InChI=1/C12H18O/c1-8(2)10-6-5-7-11(9(3)4)12(10)13/h5-9,13H,1-4H
Ivofol
Jsp004266
Juste Brand of Propofol
LS-996
Lopac-D126608
Lopac0_000437
MLS001066348
MLS001335999
MLS002454360
MolPort-001-794-517
NCGC00015389-01
NCGC00015389-02
NCGC00015389-04
NCGC00015389-09
NCGC00091538-01
NCGC00091538-02
NCGC00091538-03
NCGC00091538-04
NCGC00091538-05
NCGC00091538-06
NSC 5105
NSC5105
PFL
Parnell Brand of Propofol
Pisa Brand of Propofol
Prestwick0_000931
Prestwick1_000931
Prestwick2_000931
Prestwick3_000931
Propofol
Propofol (JAN/USAN/INN)
Propofol Abbott
Propofol Fresenius
Propofol IDD-D
Propofol MCT
Propofol Rovi
Propofol [USAN:INN:BAN]
Propofol(2,6-Diisopropylphenol)
Propofol-Lipuro
Propofolum
Propofolum [Latin]
Rapinovet
Recofol
Rovi Brand of Propofol
S01-0189
SAM002264610
SMR000059151
SPBio_003031
SPECTRUM1505022
ST50405911
Schering Brand of Propofol
UNII-YI7VU623SF
W505102_ALDRICH
ZD-0859
ZINC00968303
Zeneca Brand of Propofol
ghl.PD_Mitscher_leg0.558
nchembio.552-comp7
propofol
6
Indomethacinapproved, investigationalPhase 411653-86-13715
Synonyms:
1-(p-chlorobenzoyl)-5-methoxy-2-methylindole-3-acetic acid
1z9h
37242-43-6
503560-73-4
53-86-1
74252-25-8 (hydrochloride salt, tri-hydrate)
7681-54-1 (hydrochloride salt)
91853-74-6
AB00052022
AC-532
AC1L1GJQ
AKOS000592893
Aconip
Aconip (TN)
Amuno
Apo-Indomethacin
Arthrexin
Artracin
Artrinovo
Artrivia
BIDD:GT0132
BIM-0050670.0001
BPBio1_000160
BRD-K57222227-001-06-1
BRN 0497341
BSPBio_000144
BSPBio_001149
BSPBio_002176
Bio-0704
Bio2_000405
Bio2_000885
Bonidin
Bonidon
Bonidon Gel
C01926
CAS-53-86-1
CCRIS 3502
CHEBI:49662
CHEMBL6
CID3715
CPD-10545
Catlep
Chibro-amuno
Chrono-indicid
Chrono-indocid
Confortid
D00141
DB00328
DESMETHYL INDOMETHACIN
DivK1c_000271
Dolcidium
Dolcidium PL
Dolovin
Durametacin
EINECS 200-186-5
EU-0100692
Elmetacin
Flexin continus
HMS1362I11
HMS1568H06
HMS1792I11
HMS1920F21
HMS1990I11
HMS2089N19
HMS2091N09
HMS500N13
HSDB 3101
Hicin
I 7378
I0655
I7378_SIGMA
I8280_SIGMA
IDI1_000271
IDI1_002160
IMN
IN1454
Idomethine
Imbrilon
Inacid
Indacin
Indameth
Indmethacine
Indo-Lemmon
Indo-Spray
Indo-phlogont
Indo-rectolmin
Indo-tablinen
Indocid
Indocid (pharmaceutical)
Indocid Pda
Indocid Sr
Indocin
Indocin (TN)
Indocin I.V
Indocin I.V.
Indocin Sr
Indolar SR
Indomecol
Indomed
Indomee
Indomet 140
Indometacin
Indometacin (JP15/INN)
Indometacina
Indometacina [INN-Spanish]
Indometacine
Indometacine [INN-French]
Indometacinum
 
Indometacinum [INN-Latin]
Indometacyna
Indometacyna [Polish]
Indomethacin
Indomethacin & MAP-30
Indomethacin (USP)
Indomethacin [USAN:BAN]
Indomethacin, Indochron E-R, Indocin-SR, Indocid, Indocin, Indomethacin
Indomethacine
Indomethacinum
Indomethancin
Indomethazine
Indomethegan
Indomethine
Indometicina
Indometicina [Spanish]
Indomo
Indomod
Indoptic
Indoptol
Indorektal
Indoxen
Inflazon
Infrocin
Inteban sp
KBio1_000271
KBio2_000489
KBio2_001399
KBio2_003057
KBio2_003967
KBio2_005625
KBio2_006535
KBio3_000897
KBio3_000898
KBio3_001396
KBioGR_000395
KBioGR_000489
KBioSS_000489
KBioSS_001399
L000959
LS-187
LS-82147
Lausit
Liometacen
Lopac-I-7378
Lopac0_000692
MLS000069402
MLS000758212
MLS001074194
Metacen
Metartril
Methazine
Metindol
Mezolin
Miametan
Mikametan
Mobilan
MolMap_000032
MolPort-000-917-894
NCGC00015562-01
NCGC00015562-02
NCGC00015562-03
NCGC00015562-08
NCGC00015562-19
NCGC00024135-02
NCGC00024135-04
NCGC00024135-05
NCGC00024135-06
NCGC00024135-07
NCGC00024135-08
NCGC00024135-09
NCGC00024135-11
NCI-C56144
NCI60_041708
NINDS_000271
Novo-Methacin
Novomethacin
Oprea1_686105
Prestwick0_000272
Prestwick1_000272
Prestwick2_000272
Prestwick3_000272
Prestwick_597
Reumacide
Rhemacin LA
Rheumacin LA
S00108
S1723_Selleck
SMR000058195
SMR000449290
SPBio_000979
SPBio_002363
SPECTRUM1500350
Sadoreum
Spectrum2_000970
Spectrum3_000468
Spectrum4_000018
Spectrum5_000868
Spectrum_000919
Tannex
Tocris-1708
UNII-XXE1CET956
UPCMLD-DP023
UPCMLD-DP023:001
USAN
Vonum
indometacin
indomethacin
nchembio.147-comp11
{1-[(4-chlorophenyl)carbonyl]-5-methoxy-2-methyl-1H-indol-3-yl}acetic acid
7
Glycerolexperimental, approvedPhase 423856-81-5753
Synonyms:
1,2,3-Trihydroxypropane
1,2,3-propanetriol
1,2,3-trihydroxypropane
Bulbold
Cristal
E 422
Emery 916
Glyceol Opthalgan
Glycerin
Glycerin, anhydrous
Glycerin,anhydrous
Glycerine
Glycerinum
 
Glyceritol
Glycerol
Glycyl alcohol
Glyrol
Glysanin
IFP
Incorporation factor
Mackstat H 66
Monoctanoin component D
Osmoglyn
Pricerine 9091
Propanetriol
RG-S
Trihydroxypropane
Tryhydroxypropane
8
Etanerceptapproved, investigationalPhase 4403185243-69-0
Synonyms:
185243-69-0
CD120b
D00742
Enbrel
Enbrel (TN)
Enbrel Sureclick
Etanercept
Etanercept (USAN/INN)
 
Etanercept (genetical recombination)
Etanercept (genetical recombination) (JAN)
TNF-R2
Tumor necrosis factor receptor 2
Tumor necrosis factor receptor superfamily member 1B precursor
Tumor necrosis factor receptor type II
etanercept
p75
p80 TNF-alpha receptor
9
Cholecalciferolapproved, nutraceuticalPhase 487567-97-06221, 10883523, 5280795
Synonyms:
()-Vitamin D3
(+)-Vitamin D3
(+)-vitamin D3
(1S,3Z)-3-[(2e)-2-[(1R,3AR,7as)-7a-methyl-1-[(2R)-6-methylheptan-2-yl]-2,3,3a,5,6,7-hexahydro-1H-inden-4-ylidene]ethylidene]-4-methylidene-cyclohexan-1-ol
(3S,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(3beta,Z,7E)-9,10-Secocholesta-5,7,10(19)-trien-3-ol
(3β,5Z,7E)-9,10-secocholesta-5,7,10(19)-trien-3-ol
(5E,7E)-9,10-Secocholesta-5,7,10-trien-3-ol
(5Z,7E)-(3S)-9,10-seco-5,7,10(19)-cholestatrien-3-ol
(5Z,7E)-(3S)-9,10-secocholesta-5,7,10(19)-trien-3-ol
1406-16-2
25(OH)D
3-beta,Z,7E-9,10-Secocholestr-5,7,10(19)-trien-3-ol
47763_SUPELCO
57651-82-8
67-97-0
7-Dehydrocholesterol activated
7-Dehydrocholesterol, Activated
7-Dehydrocholesterol, irradiated
7-Dehydrocholestrol, activated
8024-19-9
8050-67-7
89193_FLUKA
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3-ol
9,10-Seco(5Z,7E)-5,7,10(19)-cholestatrien-3beta-ol
9,10-Secocholesta-5(Z),7(E),10(19)-trien-3(.beta.)-ol
9,10-Secocholesta-5,7,10(19)-trien-3-beta-ol
9,10-Secocholesta-5,7,10(19)-trien-3-ol
9,10-Secocholesta-5,7,10-trien-3-ol
AB1002422
AC-11697
AC1L1ECK
AC1L1M23
AC1LU7IZ
AC1NQXLN
AC1NR2UO
AC1NR2UR
AC1NR2UU
AC1NS4AJ
AC1NSHJX
AC1O5EOF
AC1O7GAV
AC1O7GQ3
AC1O8FEU
AC1O8PWJ
AC1OF2GI
AC1OF2GL
AC1OIEW5
AC1OIEWB
ACon1_001997
Activated 7-dehydrocholesterol
Arachitol
BPBio1_000460
BSPBio_000418
BSPBio_002408
Bio-0845
C05443
C1357_SIAL
C27H44O
C9756_SIGMA
C9774_SIAL
CAS-67-97-0
CC
CCRIS 5813
CCRIS 6286
CHEBI:283119
CHEBI:28940
CHEMBL1042
CHEMBL432780
CID10000117
CID10045875
CID10340013
CID10883523
CID10894379
CID11014566
CID11025493
CID11058152
CID11463269
CID1548921
CID2735
CID5280795
CID5283710
CID5283711
CID5283712
CID5353527
CID5363362
CID6221
CID6432644
CID6604201
CID6604662
CID6708595
CID6713938
CID6992015
CID6992016
CID7067439
CID7067440
CID7251172
CID7251174
CID9821465
Calciol
Cholecalciferol
Cholecalciferol (D3)
Cholecalciferol (JP15/USP)
Cholecalciferol D3
Cholecalciferol [USAN:BAN:JAN]
Cholecalciferol, D3
Cholecalciferolum
Colecalciferol
 
Colecalciferol (INN)
Colecalciferolo
Colecalciferolo [DCIT]
Colecalciferolum
Colecalciferolum [INN-Latin]
Colecalcipherol
D00188
D3-Vicotrat
D3-Vigantol
DB00169
Delsterol
Delta-D
Delta-D (TN)
Deparal
Devaron
DivK1c_006276
Duphafral D3 1000
EINECS 200-673-2
EINECS 215-797-2
EPA Pesticide Chemical Code 202901
Ebivit
FeraCol
Granuvit D3
HMS1569E20
HMS2092M12
HSDB 820
I05-0041
Irradiated 7-dehydrocholesterol
KBio1_001220
KBio2_001643
KBio2_004211
KBio2_006779
KBio3_001628
KBioGR_001602
KBioSS_001643
LMST03020001
LMST03020219
LMST03020220
LMST03020221
LS-1570
LS-825
LT00244775
MEGxm0_000458
Micro-dee
MolPort-001-740-051
MolPort-001-785-972
MolPort-003-666-021
MolPort-004-946-964
NCGC00016301-01
NCGC00017328-01
NCGC00091072-01
NCGC00142511-01
NCGC00159331-02
NCGC00159331-04
NCGC00178668-01
NCGC00179565-01
NCGC00179565-02
NEO Dohyfral D3
NSC 375571
NSC-375571
NSC375571
Oleovitamin D3
Prestwick0_000429
Prestwick1_000429
Prestwick2_000429
Prestwick3_000429
Prestwick_63
Provitamine
Provitina
Quintox
Rampage
Ricketon
SMP1_000068
SPBio_001298
SPBio_002357
SR-05000001559
SR-05000001559-3
ST057172
SpecPlus_000180
Spectrum2_001369
Spectrum3_000764
Spectrum4_001201
Spectrum_001163
TNP00266
Trivitan
UNII-1C6V77QF41
UPCMLD-DP152
UPCMLD-DP152:001
VITAMIN D
VITAMIN D3 POWDER
VITAMIN_D3
Vi-De3
Vi-de-3-hydrosol
VidDe-3-hydrosol
Videkhol
Vigantol
Vigorsan
Vitamin D-3
Vitamin D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
cholecalciferol
colecalciferolum
vitamin d-3
10
Ergocalciferolapproved, nutraceuticalPhase 4128150-14-65280793
Synonyms:
'Ergosterol irradiated'
(+)-Vitamin D2
(3-beta,5Z,7E,22E)-9,10-Secoergosta-5,7,10,(19),22-tetraen-3-ol
(3S,5Z,7E,14xi,17alpha,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3S,5Z,7E,22E)-9,10-secoergosta-5,7,10,22-tetraen-3-ol
(3beta,5Z,7E,22E)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(3beta,5Z,7e,22e)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
(5E,7E,22E)-9,10-Secoergosta-5,7,10,22-tetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7E,22E)-(3S)-9,10-secoergosta-5,7,10(19),22-tetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Seco-5,7,10(19),22-ergostatetraen-3-ol
(5Z,7e,22e)-(3S)-9,10-Secoergosta-5,7,10(19),22-tetraen-3-ol
22-Tetraen 3beta 9,10,Secoergosta-5,7,10(19)-ol
31316-19-5
4-Methylene-3-[2-[tetrahydro-7a-methyl-1-(1,4,5-trimethyl-2-hexenyl)-4(3aH)-indanylidene]ethylidene]-Cyclohexanol
47768_SUPELCO
50-14-6
7489-18-1
7E677DC1-E1C4-4FC5-8F4A-BCE1857F7E87
8017-28-5
9,10,Secoergosta-5,7,10(19),22-tetraen 3.beta.-ol
9,10-Seco(5Z,7E,22E)-5,7,10(19),22-ergostatetraen-3-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3-beta-ol
9,10-Secoergosta-5,7,10(19),22-tetraen-3b-ol
95220_FLUKA
95220_SIGMA
AC-1355
AC1L1FIE
AC1NQXLH
AC1NS4DE
AC1NS9GI
AC1NSSVD
AC1NWAM3
AC1O5EDK
AC1O6WAM
ACon1_002187
Activated ergosterol
BPBio1_000418
BSPBio_000380
BSPBio_001974
Buco-D
C05441
C28H44O
CALCIFEROL IN A GELATIN MATRIX
CALCIFEROL, U.S.P.
CHEBI:28934
CHEMBL1536
CID11003810
CID3249
CID5280793
CID5315257
CID5353610
CID5356615
CID5702050
CID6432478
CID6536972
Calciferol
Calciferol (TN)
Calciferol (vitamin D2)
Calciferolum
Calciferon 2
Condacaps
Condocaps
Condol
Crtron
Crystallina
D-Arthin
D-Tracetten
D00187
DB00153
Daral
Davitamon D
Davitin
De-rat concentrate
Decaps
Dee-Osterol
Dee-Ron
Dee-Ronal
Dee-Roual
Deltalin
Deratol
Detalup
Diactol
Divit urto
Doral
Drisdol
Drisdol (TN)
E5750_SIGMA
EINECS 200-014-9
Ercalciol
Ergocalciferol
Ergocalciferol (D2)
Ergocalciferol (JP15/USP)
Ergocalciferol [INN:BAN:JAN]
Ergocalciferol oil
Ergocalciferol: Vitamin D
 
Ergocalciferolo
Ergocalciferolo [DCIT]
Ergocalciferols
Ergocalciferolum
Ergocalciferolum [INN-Latin]
Ergorone
Ergosterol activated
Ergosterol irradiated
Ergosterol, irradiated
Ertron
Fortodyl
Geltabs
Geltabs Vitamin D
HMS1920K20
HMS2091B19
HMS502I07
HSDB 819
Haliver
Hi-Deratol
Hyperkil
I05-0022
IDI1_000805
Infron
Irradiated ergosta-5,7,22-trien-3-beta-ol
Irradiated ergosta-5,7,22-trien-3.beta.-ol
Irradiated ergosta-5,7,22-trien-3beta-ol
Irradiated ergosterol
LMST03010001
LMST03010014
LS-3228
MEGxm0_000466
MLS001332467
MLS001332468
Metadee
Mina D2
MolPort-001-740-057
MolPort-001-793-930
MolPort-002-526-645
MolPort-003-666-178
MolPort-006-822-629
Mulsiferol
Mykostin
NCGC00142497-01
NCGC00179579-01
NCGC00179579-02
NSC 62792
NSC62792
Novovitamin-D
Oleovitamin D
Oleovitamin D, Synthetic
Oleovitamin D2
Osteil
Ostelin
Prestwick3_000420
Prestwick_554
Radiostol
Radstein
Radsterin
Rodine C
Rodinec
SMR000857106
SPECTRUM1500276
ST057150
STOCK1N-53397
Shock-ferol
Shock-ferol sterogyl
Sorex C.R
Sorex C.R.
Spectrum5_000666
Sterogyl
Synthetic Vitamin D
UNII-VS041H42XC
Uvesterol D
Uvesterol-D
VITAMIN D2
VITAMIN D2 WATER DISPERSABLE U.S.P.
VITAMIN_D2
Vigantol
Vio D
Vio-D
Viostdrol
Viosterol
Viosterol in Oil
Vitamin D2
Vitamin- D2
Vitamin-?D2
Vitamina D2
Vitavel-D
WLN: L56 FYTJ A1 BY1&1U1Y1&Y1&1 FU2U- BL6YYTJ AU1 DQ
ZINC04474571
ZINC04629876
beta-Ol
bmse000510
component of Geltabs Vitamin D
delta-Arthin
delta-Tracetten
ergocalciferol
vitamin d-2
11Protective AgentsPhase 4, Phase 2, Phase 37443
12Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 113168
13Insulin, Globin ZincPhase 4, Phase 24645
14Hypoglycemic AgentsPhase 4, Phase 25896
15VitaminsPhase 4, Phase 2, Phase 3, Phase 1, Early Phase 15282
16HormonesPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 114415
17pancreatinPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 1970
18MicronutrientsPhase 4, Phase 2, Phase 3, Phase 1, Early Phase 16001
19Trace ElementsPhase 4, Phase 2, Phase 3, Phase 1, Early Phase 16001
20insulinPhase 4, Phase 24646
21Hormone AntagonistsPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 113180
22Gastrointestinal AgentsPhase 4, Phase 3, Phase 2, Phase 1, Early Phase 18402
23IncretinsPhase 4, Phase 21579
24Anti-Inflammatory AgentsPhase 4, Phase 310729
25Immunosuppressive AgentsPhase 4, Phase 3, Phase 213086
26Antirheumatic AgentsPhase 4, Phase 1, Phase 210956
27Antineoplastic Agents, HormonalPhase 45592
28Sitagliptin PhosphatePhase 4423
29
protease inhibitorsPhase 4, Phase 1, Phase 25471
Synonyms:
 
protease inhibitors
30Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 323689
31Adrenergic AgonistsPhase 43027
32Adrenergic alpha-2 Receptor AgonistsPhase 4980
33Adrenergic AgentsPhase 45352
34vitamin dPhase 41724
35Bone Density Conservation AgentsPhase 43376
36ErgocalciferolsPhase 41281
37HIV Protease InhibitorsPhase 4, Phase 1, Phase 25470
38Adrenergic alpha-AgonistsPhase 41734
39Neurotransmitter AgentsPhase 4, Phase 2, Phase 118340
40Dipeptidyl-Peptidase IV InhibitorsPhase 4862
41AnalgesicsPhase 4, Phase 2, Phase 311733
42Hypnotics and SedativesPhase 4, Phase 22616
43Analgesics, Non-NarcoticPhase 4, Phase 26501
44Central Nervous System DepressantsPhase 4, Phase 2, Phase 313403
45Cyclooxygenase InhibitorsPhase 42870
46Trypsin InhibitorsPhase 4, Phase 1, Phase 2125
47Tocolytic AgentsPhase 4739
48Serine Proteinase InhibitorsPhase 4, Phase 1, Phase 2878
49Anti-Inflammatory Agents, Non-SteroidalPhase 44443
50Alpha 1-AntitrypsinPhase 4, Phase 1, Phase 2100

Interventional clinical trials:

(show top 50)    (show all 171)
idNameStatusNCT IDPhase
1Evaluation of the Digestive and Metabolic Utilisation of Dietary Protein in Patients With Chronic PancreatitisCompletedNCT00957151Phase 4
2Prospective Study of Efficacy of Intra-muscular Vitamin D3 in Tropical Calcific PancreatitisCompletedNCT00956839Phase 4
3Enzyme Suppletion in Exocrine Pancreatic DysfunctionCompletedNCT01430234Phase 4
4Prospective Study of Celiac Block Injection: 1 vs. 2CompletedNCT00583479Phase 4
5Dexmedetomidine Versus Placebo in Endoscopic Retrograde Cholangiopancreatography (ERCP) SedationCompletedNCT01070680Phase 4
6Sitagliptin Therapy to Improve Outcomes After Islet AutotransplantCompletedNCT01186562Phase 4
7Somatostatin, Octreotide, Pentoxyfilline in the Prevention of Post-ERCP Pancreatitis and Molecular MarkersCompletedNCT00222092Phase 4
8WallFlex Biliary Fully Covered (FC) Chronic Pancreatitis StudyRecruitingNCT01543256Phase 4
9Anti-inflammatory Therapy to Improve Outcomes After TPIATRecruitingNCT02713997Phase 4
10Early Oral Versus Enteral Nutrition After PancreatoduodenectomyRecruitingNCT01642875Phase 4
11Rectal Indomethacin to Prevent Post ESWL-pancreatitisRecruitingNCT02797067Phase 4
12Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo ControlTerminatedNCT00744250Phase 4
13EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic PancreatitisUnknown statusNCT00142233Phase 2, Phase 3
14Role of Antioxidants Supplementation in Chronic PancreatitisCompletedNCT00319358Phase 3
15Pain and Chronic Pancreatitis - Clinical End Experimental StudiesCompletedNCT00755573Phase 2, Phase 3
16Efficacy of EUS-guided Celiac Plexus Blockade in Chronic PancreatitisCompletedNCT00658736Phase 3
17A Study to Investigate the Effect of Delayed Release Pancrelipase on Maldigestion in Patients With Exocrine Pancreatic Insufficiency Due to Chronic Pancreatitis and PancreatectomyCompletedNCT00414908Phase 3
18A Randomized, Double-Blind, Dose Response-Control, Crossover Study to Evaluate the Safety and Efficacy of Two Doses of EUR-1008 (APT-1008) in Chronic Pancreatitis (CP) Participants With Exocrine Pancreatic Insufficiency (EPI)CompletedNCT00788593Phase 3
19A Open-label Study to Assess the Safety of Oral Long-term Use of SA-001 in Pancreatic Exocrine InsufficiencyCompletedNCT00401076Phase 3
20Creon 40,000 for Treatment of PEI (Pancreatic Exocrine Insufficiency) Due to Chronic PancreatitisCompletedNCT00705978Phase 3
21A Study of SA-001 to Treat Pancreatic Exocrine InsufficiencyCompletedNCT00400842Phase 3
22Safety and Efficacy Study of Viokase® 16 for the Correction of SteatorrheaCompletedNCT00559364Phase 3
23Safety and Efficacy of Synthetic Human Secretin-Enhanced MRCP in Subjects With Abnormalities of the PancreasCompletedNCT00660335Phase 3
24Nonstented Stump-closed vs Duct-to-Mucosa Pancreaticojejunostomy After PancreaticoduodenectomyCompletedNCT01731821Phase 3
25Study to Evaluate the Efficacy and Safety of OraVescent Fentanyl Citrate Treatment for the Management of Breakthrough Pain in Opioid-Tolerant Patients With Noncancer-Related Chronic PainCompletedNCT00343733Phase 3
26Prospective Study on Endoscopic Ultrasound (EUS) Celiac Bloc Efficacy in Chronic PancreatitisRecruitingNCT01318590Phase 3
27EUS-guided CGN for Inoperable CancerRecruitingNCT02356640Phase 2, Phase 3
28Efficacy and Safety of Reparixin in Pancreatic Islet Auto-transplantationActive, not recruitingNCT01967888Phase 2, Phase 3
29WallFlex Biliary Fully Covered (FC) Benign Stricture StudyActive, not recruitingNCT01014390Phase 3
30Pentoxifylline Treatment in Acute Pancreatitis (AP)Enrolling by invitationNCT02487225Phase 3
31Phase III ALTU-135 CP Safety TrialTerminatedNCT00500084Phase 3
32The Effect of Pancreatic Polypeptide on Insulin Requirements for Type 1 & Post-pancreatectomy Diabetic PatientsUnknown statusNCT00791076Phase 2
33A Pilot Study of Use of Calcium Channel Blocker to Decrease Inflammation and Pain in Hereditary PancreatitisCompletedNCT00156403Phase 1, Phase 2
34Secretin Infusion for Pain Due to Chronic PancreatitisCompletedNCT01265875Phase 1, Phase 2
35Chronic Pancreatitis. Effect of Pioglitazone on Endocrine Function, Exocrine Function & Structure, Pain & Life QualityCompletedNCT00782795Phase 2
36Δ9-THC (Namisol®) in Chronic Pancreatitis Patients Suffering From Persistent Abdominal PainCompletedNCT01551511Phase 2
37TMS Treatment for Pain in Chronic PancreatitisCompletedNCT00250484Phase 2
38BreathID® Test: A Non-invasive Modality to Detect Pancreatic Exocrine InsufficiencyCompletedNCT01259544Phase 2
39Comparison of Extracorporeal Shock Wave Lithotripsy (ESWL) Alone and ESWL Plus Endoscopy for Painful Chronic PancreatitisCompletedNCT00133835Phase 1, Phase 2
40Efficacy Study of Δ9-THC to Treat Chronic Abdominal PainCompletedNCT01318369Phase 2
41An Open-Label Study to Evaluate the Intraduodenal Delivery of Enzymes From Administration of VIOKASE16 in Exocrine Pancreatic Insufficiency (EPI)CompletedNCT00559052Phase 2
42Rituximab in IgG4-related Disease: A Phase 1-2 TrialCompletedNCT01584388Phase 1, Phase 2
43Liraglutide to Improve corONary Haemodynamics During Exercise streSSCompletedNCT02315001Phase 2
44Fat Malabsorption in Chronic PancreatitisRecruitingNCT02849704Phase 2
45Alpha-1 Antitrypsin (AAT) Enhances Islet Autograft Survival in Patients With Chronic PancreatitisRecruitingNCT02947087Phase 1, Phase 2
46Pancreatic Perfusion Using Secretin and MRIRecruitingNCT02458118Phase 1, Phase 2
47Simvastatin in Reducing Pancreatitis in Patients With Recurrent, Acute or Chronic PancreatitisRecruitingNCT02743364Phase 2
48A Dose Ranging Study Evaluating Efficacy and Safety of NI-03RecruitingNCT02693093Phase 1, Phase 2
49Activity and Risk Profile of Ponatinib in Chronic Phase Patients With Chronic Myeloid Leukemia Resistant to ImatinibRecruitingNCT02398825Phase 2
50Safety And Efficacy Of Tanezumab In Patients With Chronic PancreatitisTerminatedNCT01146561Phase 2

Search NIH Clinical Center for Pancreatitis, Hereditary

Genetic Tests for Pancreatitis, Hereditary

About this section

Genetic tests related to Pancreatitis, Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Pancreatitis27 24 SPINK1
2 Pancreatitis, Chronic, Susceptibility to27
3 Chronic Pancreatitis27
4 Pancreatitis, Chronic, Protection Against24 PRSS2

Anatomical Context for Pancreatitis, Hereditary

About this section

MalaCards organs/tissues related to Pancreatitis, Hereditary:

36
Pancreas

Publications for Pancreatitis, Hereditary

About this section

Articles related to Pancreatitis, Hereditary:

idTitleAuthorsYear
1
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. (21110969)
2011
2
Gene symbol: PRSS1. Disease: Pancreatitis, hereditary. Accession #Hm0542. (17297697)
2006

Variations for Pancreatitis, Hereditary

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UniProtKB/Swiss-Prot genetic disease variations for Pancreatitis, Hereditary:

70 (show all 25)
id Symbol AA change Variation ID SNP ID
1CTRCp.Ala73ThrVAR_043520rs515726209
2CTRCp.Gly217ArgVAR_043522
3CTRCp.Gly217SerVAR_043523rs202058123
4CTRCp.Val235IleVAR_043527rs140993290
5CTRCp.Pro249LeuVAR_043528rs142560329
6CTRCp.Arg254TrpVAR_043529rs121909293
7CTRCp.Gly32ValVAR_070522
8CTRCp.Cys155TyrVAR_070526
9CTRCp.Gln178ArgVAR_070528rs200678111
10CTRCp.Val250GluVAR_070538
11PRSS1p.Asn29IleVAR_006720rs111033566
12PRSS1p.Arg122HisVAR_006721rs267606982
13PRSS1p.Asp22GlyVAR_011652rs397507442
14PRSS1p.Lys23ArgVAR_011653rs111033567
15PRSS1p.Leu104ProVAR_011654
16PRSS1p.Arg116CysVAR_011655rs387906698
17PRSS1p.Cys139PheVAR_011656
18PRSS1p.Ala16ValVAR_011693rs202003805
19PRSS1p.Asn29ThrVAR_012712rs111033566
20PRSS1p.Arg122CysVAR_012713rs111033568
21PRSS1p.Asn54SerVAR_037908rs144422014
22PRSS1p.Glu79LysVAR_037909rs111033564
23SPINK1p.Leu14ProVAR_011688rs104893939
24SPINK1p.Asn34SerVAR_011689rs17107315
25SPINK1p.Leu12PheVAR_032011rs35877720

Clinvar genetic disease variations for Pancreatitis, Hereditary:

5 (show all 87)
id Gene Variation Type Significance SNP ID Assembly Location
1PRSS1NM_ 002769.4(PRSS1): c.365G> A (p.Arg122His)SNVPathogenicrs111033565GRCh37Chr 7, 142459789: 142459789
2PRSS1NM_ 002769.4(PRSS1): c.86A> T (p.Asn29Ile)SNVPathogenicrs111033566GRCh37Chr 7, 142458451: 142458451
3PRSS1NM_ 002769.4(PRSS1): c.68A> G (p.Lys23Arg)SNVPathogenicrs111033567GRCh37Chr 7, 142458433: 142458433
4PRSS1PRSS1, 3-BP DELdeletionPathogenic
5PRSS1NM_ 002769.4(PRSS1): c.235G> A (p.Glu79Lys)SNVPathogenicrs111033564GRCh37Chr 7, 142459659: 142459659
6PRSS1NM_ 002769.4(PRSS1): c.161A> G (p.Asn54Ser)SNVPathogenicrs144422014GRCh37Chr 7, 142458526: 142458526
7PRSS1NM_ 002769.4(PRSS1): c.365_ 366delGCinsAT (p.Arg122His)indelPathogenicrs267606982GRCh37Chr 7, 142459789: 142459790
8PRSS1NM_ 002769.4(PRSS1): c.364C> T (p.Arg122Cys)SNVPathogenicrs111033568GRCh37Chr 7, 142459788: 142459788
9PRSS1PRSS1, TRIPLICATIONundetermined variantPathogenic
10SPINK1NM_ 003122.4(SPINK1): c.194+2T> CSNVPathogenicrs148954387GRCh38Chr 5, 147828020: 147828020
11SPINK1NM_ 003122.4(SPINK1): c.150T> G (p.Asp50Glu)SNVPathogenicrs515726206GRCh38Chr 5, 147828066: 147828066
12SPINK1NM_ 003122.4(SPINK1): c.160T> C (p.Tyr54His)SNVPathogenicrs515726207GRCh38Chr 5, 147828056: 147828056
13SPINK1NM_ 003122.4(SPINK1): c.199C> T (p.Arg67Cys)SNVPathogenicrs515726208GRCh38Chr 5, 147824702: 147824702
14CFTRNM_ 000492.3(CFTR): c.54-5940_ 273+10250deldeletionPathogenicGRCh38Chr 7, 117498313: 117519392
15CFTRNM_ 000492.3(CFTR): c.3963-78_ 4242+577deldeletionPathogenic
16CTRCNM_ 007272.2(CTRC): c.217G> A (p.Ala73Thr)SNVPathogenicrs515726209GRCh37Chr 1, 15767073: 15767073
17CTRCNM_ 007272.2(CTRC): c.738_ 761del24 (p.Lys247_ Arg254del)deletionPathogenicrs515726210GRCh37Chr 1, 15772190: 15772213
18PRSS1NP_ 002760.1(PRSS1): p.Cys139Serprotein onlyPathogenic
19SPINK1NM_ 003122.4(SPINK1): c.101A> G (p.Asn34Ser)SNVrisk factorrs17107315GRCh37Chr 5, 147207678: 147207678
20SPINK1NM_ 003122.4(SPINK1): c.2T> C (p.Met1Thr)SNVPathogenicrs104893938GRCh37Chr 5, 147211139: 147211139
21SPINK1SPINK1, -215G-ASNVPathogenic
22SPINK1NM_ 003122.4(SPINK1): c.41T> C (p.Leu14Pro)SNVPathogenicrs104893939GRCh37Chr 5, 147211100: 147211100
23SPINK1NM_ 003122.4(SPINK1): c.41T> G (p.Leu14Arg)SNVPathogenicrs104893939GRCh37Chr 5, 147211100: 147211100
24SPINK1SPINK1, 1.3-KB DELdeletionPathogenic
25PRSS1NM_ 002769.4(PRSS1): c.347G> C (p.Arg116Pro)SNVLikely pathogenicrs199769221GRCh38Chr 7, 142751920: 142751920
26CFTRNM_ 000492.3(CFTR): c.850dupA (p.Met284Asnfs)duplicationPathogenic/ Likely pathogenicrs786204693GRCh37Chr 7, 117176708: 117176708
27CFTRNM_ 000492.3(CFTR): c.848_ 860delAAATGATTGAAAAinsTG (p.Lys283Metfs)indelPathogenicrs796065332GRCh37Chr 7, 117176706: 117176718
28CFTRNM_ 000492.3(CFTR): c.350G> A (p.Arg117His)SNV, HaplotypePathogenicrs78655421GRCh37Chr 7, 117171029: 117171029
29SPINK1NM_ 003122.4(SPINK1): c.56-37T> CSNVrisk factorrs17107318GRCh37Chr 5, 147209230: 147209230
30PRSS1NC_ 000007.14: g.(?_ 142749479)_ (142752573_ ?)dupduplicationPathogenicGRCh38Chr 7, 142749479: 142752573
31CFTRNM_ 000492.3(CFTR): c.1234_ 1238delGCAAA (p.Ala412Thrfs)deletionPathogenicrs3034796GRCh37Chr 7, 117188719: 117188723
32CFTRNM_ 000492.3(CFTR): c.3999delG (p.Lys1334Serfs)deletionPathogenicrs886042527GRCh37Chr 7, 117304777: 117304777
33CFTRNM_ 000492.3(CFTR): c.1679+1G> ASNVPathogenicrs397508263GRCh37Chr 7, 117227888: 117227888
34PRSS1NM_ 002769.4(PRSS1): c.346C> T (p.Arg116Cys)SNVPathogenicrs387906698GRCh37Chr 7, 142459770: 142459770
35CFTRNM_ 000492.3(CFTR): c.1865G> A (p.Gly622Asp)SNVPathogenicrs121908759GRCh37Chr 7, 117232086: 117232086
36CFTRNM_ 000492.3(CFTR): c.2051_ 2052delAAinsG (p.Lys684Serfs)indelPathogenicrs121908799GRCh37Chr 7, 117232272: 117232273
37CFTRNM_ 000492.3(CFTR): c.2052dupA (p.Gln685Thrfs)duplicationPathogenicrs121908786GRCh37Chr 7, 117232273: 117232273
38CFTRNM_ 000492.3(CFTR): c.2988G> A (p.Gln996=)SNVPathogenicrs121908797GRCh37Chr 7, 117246807: 117246807
39CFTRNM_ 000492.3(CFTR): c.3209G> A (p.Arg1070Gln)SNVPathogenic/ Likely pathogenicrs78769542GRCh37Chr 7, 117251704: 117251704
40CFTRNM_ 000492.3(CFTR): c.3454G> C (p.Asp1152His)SNVPathogenicrs75541969GRCh37Chr 7, 117254753: 117254753
41PRSS1NM_ 002769.4(PRSS1): c.389C> T (p.Thr130Ile)SNVLikely pathogenicrs193922655GRCh37Chr 7, 142459813: 142459813
42PRSS1NM_ 002769.4(PRSS1): c.398C> G (p.Pro133Arg)SNVLikely pathogenicrs193922656GRCh37Chr 7, 142459822: 142459822
43SPINK1NM_ 003122.4(SPINK1): c.27delC (p.Ser10Valfs)deletionPathogenicrs193922659GRCh37Chr 5, 147211114: 147211114
44PRSS1NM_ 002769.4(PRSS1): c.116T> C (p.Val39Ala)SNVPathogenicrs397507439GRCh37Chr 7, 142458481: 142458481
45PRSS1NM_ 002769.4(PRSS1): c.415T> A (p.Cys139Ser)SNVPathogenicrs397507440GRCh37Chr 7, 142459839: 142459839
46PRSS1NM_ 002769.4(PRSS1): c.47C> T (p.Ala16Val)SNVPathogenicrs202003805GRCh37Chr 7, 142458412: 142458412
47PRSS1NM_ 002769.4(PRSS1): c.63_ 71dupTGACAAGAT (p.Ile24_ Val25insAspLysIle)duplicationPathogenicrs397507441GRCh37Chr 7, 142458428: 142458436
48PRSS1NM_ 002769.4(PRSS1): c.65A> G (p.Asp22Gly)SNVPathogenicrs397507442GRCh37Chr 7, 142458430: 142458430
49PRSS1NM_ 002769.4(PRSS1): c.86A> C (p.Asn29Thr)SNVPathogenicrs111033566GRCh37Chr 7, 142458451: 142458451
50CFTRNM_ 000492.3(CFTR): c.3067_ 3072delATAGTG (p.Ile1023_ Val1024del)deletionPathogenicrs121908767GRCh37Chr 7, 117250651: 117250656
51CFTRNM_ 000492.3(CFTR): c.579+1G> TSNVPathogenicrs77188391GRCh37Chr 7, 117174420: 117174420
52CFTRNM_ 000492.3(CFTR): c.2657+5G> ASNVPathogenicrs80224560GRCh37Chr 7, 117242922: 117242922
53CFTRNM_ 000492.3(CFTR): c.489+1G> TSNVPathogenicrs78756941GRCh37Chr 7, 117171169: 117171169
54CFTRNM_ 000492.3(CFTR): c.3302T> A (p.Met1101Lys)SNVPathogenicrs36210737GRCh37Chr 7, 117251797: 117251797
55PRSS1NC_ 000007.14: g.(?_ 142749468)_ (142753076_ ?)dupduplicationLikely pathogenicGRCh38Chr 7, 142749468: 142753076
56CFTRNM_ 000492.3(CFTR): c.274-1G> ASNVPathogenicrs121908792GRCh37Chr 7, 117170952: 117170952
57CFTRNM_ 000492.3(CFTR): c.803delA (p.Asn268Ilefs)deletionPathogenicrs121908772GRCh37Chr 7, 117176661: 117176661
58CFTRNM_ 000492.3(CFTR): c.935_ 937delTCT (p.Phe312del)deletionPathogenicrs121908768GRCh37Chr 7, 117180219: 117180221
59CFTRNM_ 000492.3(CFTR): c.165-1G> ASNVPathogenicrs397508249GRCh37Chr 7, 117149087: 117149087
60CFTRNM_ 000492.3(CFTR): c.1753G> T (p.Glu585Ter)SNVPathogenicrs397508296GRCh37Chr 7, 117230480: 117230480
61CFTRNM_ 000492.3(CFTR): c.1766+3A> GSNVPathogenicrs397508298GRCh37Chr 7, 117230496: 117230496
62CFTRNM_ 000492.3(CFTR): c.1853T> C (p.Ile618Thr)SNVPathogenicrs139468767GRCh37Chr 7, 117232074: 117232074
63CFTRNM_ 000492.3(CFTR): c.200C> T (p.Pro67Leu)SNVPathogenicrs368505753GRCh37Chr 7, 117149123: 117149123
64CFTRNM_ 000492.3(CFTR): c.2834C> T (p.Ser945Leu)SNVPathogenicrs397508442GRCh37Chr 7, 117243762: 117243762
65CFTRNM_ 000492.3(CFTR): c.3612G> A (p.Trp1204Ter)SNVPathogenicrs121908765GRCh37Chr 7, 117267719: 117267719
66CFTRNM_ 000492.3(CFTR): c.4426C> T (p.Gln1476Ter)SNVPathogenicrs374705585GRCh37Chr 7, 117307145: 117307145
67CFTRNM_ 000492.3(CFTR): c.577G> T (p.Glu193Ter)SNVPathogenicrs397508759GRCh37Chr 7, 117174417: 117174417
68CFTRNM_ 000492.3(CFTR): c.743+1G> ASNVPathogenicrs397508791GRCh37Chr 7, 117175466: 117175466
69CFTRNM_ 000492.3(CFTR): c.1521_ 1523delCTT (p.Phe508delPhe)deletionPathogenicrs113993960GRCh37Chr 7, 117199646: 117199648
70CFTRNM_ 000492.3(CFTR): c.1519_ 1521delATC (p.Ile507del)deletionPathogenicrs121908745GRCh37Chr 7, 117199644: 117199646
71CFTRNM_ 000492.3(CFTR): c.1624G> T (p.Gly542Ter)SNVPathogenicrs113993959GRCh37Chr 7, 117227832: 117227832
72CFTRNM_ 000492.3(CFTR): c.1652G> A (p.Gly551Asp)SNVPathogenicrs75527207GRCh37Chr 7, 117227860: 117227860
73CFTRNM_ 000492.3(CFTR): c.1657C> T (p.Arg553Ter)SNVPathogenicrs74597325GRCh37Chr 7, 117227865: 117227865
74CFTRNM_ 000492.3(CFTR): c.1675G> A (p.Ala559Thr)SNVPathogenicrs75549581GRCh37Chr 7, 117227883: 117227883
75CFTRNM_ 000492.3(CFTR): c.3846G> A (p.Trp1282Ter)SNVPathogenicrs77010898GRCh37Chr 7, 117282620: 117282620
76CFTRNM_ 000492.3(CFTR): c.1021_ 1022dupTC (p.Phe342Hisfs)duplicationPathogenicrs387906360GRCh37Chr 7, 117180305: 117180306
77CFTRNM_ 000492.3(CFTR): c.948delT (p.Phe316Leufs)deletionPathogenicrs121908744GRCh37Chr 7, 117180232: 117180232
78CFTRNM_ 000492.3: c.3718-2477C> TSNVPathogenicrs75039782GRCh37Chr 7, 117280015: 117280015
79CFTRNM_ 000492.3(CFTR): c.1438G> T (p.Gly480Cys)SNVPathogenicrs79282516GRCh37Chr 7, 117199563: 117199563
80CFTRNM_ 000492.3(CFTR): c.1210-12_ 1210-6T[5]short repeatrisk factorrs727504486GRCh37Chr 7, 117188683: 117188689
81CFTRNM_ 000492.3(CFTR): c.617T> G (p.Leu206Trp)SNVPathogenicrs121908752GRCh37Chr 7, 117175339: 117175339
82CFTRNM_ 000492.3(CFTR): c.3194T> C (p.Leu1065Pro)SNVPathogenicrs121909036GRCh37Chr 7, 117251689: 117251689
83CFTRNM_ 000492.3(CFTR): c.2988+1G> ASNVPathogenicrs75096551GRCh37Chr 7, 117246808: 117246808
84CFTRNM_ 000492.3(CFTR): c.2991G> C (p.Leu997Phe)SNVrisk factorrs1800111GRCh37Chr 7, 117250575: 117250575
85CFTRNM_ 000492.3(CFTR): c.19G> T (p.Glu7Ter)SNVPathogenicrs121909045GRCh37Chr 7, 117120167: 117120167
86CTRCNM_ 007272.2(CTRC): c.760C> T (p.Arg254Trp)SNVrisk factorrs121909293GRCh37Chr 1, 15772212: 15772212
87CTRCNM_ 007272.2(CTRC): c.164G> A (p.Trp55Ter)SNVPathogenic, risk factorrs121909294GRCh37Chr 1, 15767020: 15767020

Copy number variations for Pancreatitis, Hereditary from CNVD:

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12208757141580825141583339Copy numberChronic pancreatitis

Expression for genes affiliated with Pancreatitis, Hereditary

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Search GEO for disease gene expression data for Pancreatitis, Hereditary.

Pathways for genes affiliated with Pancreatitis, Hereditary

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GO Terms for genes affiliated with Pancreatitis, Hereditary

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Cellular components related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axon cytoplasmGO:190411510.3BLOC1S3, BLOC1S6, DTNBP1
2BLOC-1 complexGO:003108310.3BLOC1S3, BLOC1S6, DTNBP1
3extracellular regionGO:00055768.9CCK, CPA1, CTRC, ELANE, PNLIP, PRSS1
4extracellular spaceGO:00056158.6CCK, CPA1, ELANE, PRSS1, PRSS2, PRSS3

Biological processes related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1ethanol oxidationGO:000606910.8ADH1B, ADH1C
2extracellular matrix disassemblyGO:002261710.6ELANE, PRSS1, PRSS2
3cobalamin metabolic processGO:000923510.6CTRC, PRSS1, PRSS3
4digestionGO:000758610.6PRSS1, PRSS2, PRSS3
5platelet dense granule organizationGO:006015510.5BLOC1S3, DTNBP1
6endosome to melanosome transportGO:003564610.5BLOC1S3, BLOC1S6
7melanosome transportGO:003240210.5BLOC1S3, BLOC1S6
8anterograde axonal transportGO:000808910.2BLOC1S3, BLOC1S6, DTNBP1
9anterograde synaptic vesicle transportGO:004849010.2BLOC1S3, BLOC1S6, DTNBP1
10melanosome organizationGO:003243810.2BLOC1S3, BLOC1S6, DTNBP1
11neuron projection developmentGO:003117510.2BLOC1S3, BLOC1S6, DTNBP1
12antimicrobial humoral responseGO:001973010.1ELANE, PRSS2, PRSS3, REG3A
13proteolysisGO:00065089.3CPA1, CTRC, ELANE, PRSS1, PRSS2, PRSS3

Molecular functions related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1alcohol dehydrogenase activity, zinc-dependentGO:000402410.8ADH1B, ADH1C
2serine-type endopeptidase activityGO:000425210.1CTRC, ELANE, PRSS1, PRSS2, PRSS3
3peptidase activityGO:00082339.9CPA1, CTRC, ELANE, PRSS1, PRSS2, PRSS3
4hydrolase activityGO:00167879.6CFTR, CPA1, CTRC, ELANE, PNLIP, PRSS1
5serine-type peptidase activityGO:00082369.5CTRC, ELANE, PRSS1, PRSS2, PRSS3

Sources for Pancreatitis, Hereditary

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet