MCID: PNC108
MIFTS: 53

Pancreatitis, Hereditary malady

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

Aliases & Classifications for Pancreatitis, Hereditary

About this section
Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 67UniProtKB/Swiss-Prot, 24GTR, 2CDC, 65UMLS, 28ICD10 via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 49 11 67
Hereditary Pancreatitis 45 22 23 65
Hereditary Chronic Pancreatitis 45 23 51
Chronic Pancreatitis 22 47 67
Pancreatitis, Chronic, Protection Against 49 22
Pancreatitis, Chronic, Susceptibility to 22 24
Pancreatitis Hereditary 47 24
Pancreatitis, Chronic 49 65
Pctt 22 67
Hp 23 67
 
Autosomal Dominant Hereditary Pancreatitis 23
Pancreatitis, Idiopathic 49
Pancreatitis, Calcific 65
Hantavirus Infections 65
Calcific Pancreatitis 22
Familial Pancreatitis 23
Hps 2
Hpc 67
Cp 67

Characteristics:

Orphanet epidemiological data:

51
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:

61
pancreatitis, hereditary:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 167800
Orphanet51 676
ICD10 via Orphanet28 K86.1
UMLS via Orphanet66 C0341474
MeSH36 D010195
UMLS65 C0238339, C1868653, C0149521 C0242994, more

Summaries for Pancreatitis, Hereditary

About this section
NIH Rare Diseases:45 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 pancreatitis and tropical calcific pancreatitis, and has symptoms including pancreatic calcification, pancreatic pseudocyst and steatorrhea. An important gene associated with Pancreatitis, Hereditary is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways are Cobalamin (Cbl, vitamin B12) transport and metabolism and Abacavir Pathway, Pharmacokinetics/Pharmacodynamics. Affiliated tissues include pancreas, bone and testes, and related mouse phenotype homeostasis/metabolism.

Genetics Home Reference:23 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, found in Asia, 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:67 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.

Wikipedia:68 Hereditary pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was... more...

Description from OMIM:49 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 152)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis29.9ADH1B, CCK, CFTR, LPL, PRSS1, SPINK1
2tropical calcific pancreatitis27.1ABCC10, ADH1B, ADH1C, APOC2, BRCA2, CCK
3prss1-related hereditary pancreatitis12.3
4cftr-related hereditary pancreatitis12.3
5ctrc-related hereditary pancreatitis12.3
6spink1-related hereditary pancreatitis12.3
7aceruloplasminemia11.9
8hantavirus pulmonary syndrome11.9
9myocardial infarction11.7
10tropical pancreatitis11.6
11carbamoylphosphate synthetase i deficiency11.6
12wilson disease11.5
13hemochromatosis11.5
14yorifuji okuno syndrome11.2
15pseudomyxoma peritonei10.5PRSS1, SPINK1
16hyperlysinemia10.5ABCC10, CFTR
17bronchiectasis with or without elevated sweat chloride 310.5ABCC10, CFTR
18intraorbital meningioma10.5CCK, SCT
19congenital enterocyte heparan sulfate deficiency10.5CFTR, CTRC, SPINK1
20familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement10.5ADH1B, ADH1C
21duodenal disease10.4CCK, SCT
22recurrent acute pancreatitis10.4
23glucose-6-phosphate translocase deficiency10.4SCT, SST
24malignant spiradenoma10.4CCK, SCT
25hemangiopericytoma10.4
26biliary tract disease10.4CCK, SST
27cholesterol ester storage disease10.4SCT, SST
28pandas10.4
29senile angioma10.4SCT, SST
30inhibited male orgasm10.4SCT, SST
31ampulla of vater neoplasm10.3SCT, SST
32venous hemangioma10.3ELANE, MUC4
33osmotic diarrhea10.3CFTR, SST
34retinal degeneration, late-onset, autosomal dominant10.3APOC2, LPL
35dentin sensitivity10.3CCK, SCT, SST
36pancreatic cancer10.3
37mody, type iv10.3CFTR, PNLIP, SCT, SPINK1
38rectum signet ring adenocarcinoma10.3CCK, SCT, SST
39secondary progressive multiple sclerosis10.3SCT, SST
40polyglucosan body disease, adult form10.3CCK, SCT
41pten hamartoma tumor syndrome10.3CFTR, CTRC, PRSS1, PRSS2, SPINK1
42protein-losing enteropathy10.3CCK, PNLIP, PRSS1, SCT
43familial nephrotic syndrome10.2CCK, CFTR, PNLIP, SCT
44pheochromocytoma10.2
45hepatocellular carcinoma10.2
46pancreatic cystadenocarcinoma10.2CCK, PRSS1, SCT, SST
47peritoneum cancer10.2CCK, CFTR, SCT, SST
48thymus adenocarcinoma10.2BRCA2, MUC4
49netherton syndrome10.2CTRC, PRSS1, PRSS2, REG1A, SPINK1
50melanoma10.1

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



Diseases related to pancreatitis, hereditary

Symptoms for Pancreatitis, Hereditary

About this section

Symptoms by clinical synopsis from OMIM:

167800

Clinical features from OMIM:

167800

HPO human phenotypes related to Pancreatitis, Hereditary:

(show all 10)
id Description Frequency HPO Source Accession
1 pancreatic calcification HP:0005213
2 pancreatic pseudocyst HP:0005206
3 steatorrhea HP:0002570
4 pleural effusion HP:0002202
5 abdominal pain HP:0002027
6 abnormal thrombosis HP:0001977
7 fever HP:0001945
8 exocrine pancreatic insufficiency HP:0001738
9 pancreatitis HP:0001733
10 diabetes mellitus HP:0000819

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 176)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Octreotideapproved, investigationalPhase 419883150-76-9383414, 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
Ocphyl
Octreotida
Octreotida [Spanish]
Octreotide
Octreotide (USAN/INN)
Octreotide Acetate
Octreotide Acetate Salt
Octreotide [USAN:INN:BAN]
Octreotide acetate
Octreotide-LAR
Octreotidum
Octreotidum [Latin]
Octrotide
SAN 201-995
SM 201-995
SMS 201-995
SMS-201-995
Sandostatin
Sandostatine
Sandoz 201-995
UNII-RWM8CCW8GP
nchembio.184-comp3
zacycloicosane-4-carboxamide acetate
2
Propofolapproved, investigationalPhase 49312078-54-84943
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
3
PancrelipaseapprovedPhase 4, Phase 3, Phase 2, Phase 1, Phase 088053608-75-6
Synonyms:
1,4-alpha-D- glucan glucanohydrolase
Creon
PA
Pancreatic alpha-amylase precursor
Pancreaze
 
Pancrelipase
Pertzye
Polocaine-mpf
Ultresa
Viokace
Zenpep
4
DexmedetomidineapprovedPhase 4470113775-47-668602, 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)
Dexmedetomidine Hydrochloride
Dexmedetomidinum
Dexmédétomidine
MPV 1440
MPV-1440
Medetomidina [Spanish]
Medetomidine
Medetomidinum [Latin]
NCGC00025347-01
PRECEDEX
Precedex
Precedex (TN)
Tocris-2023
ZINC04632106
5
Etanerceptapproved, investigationalPhase 4383185243-69-0
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
6
Cholecalciferolapproved, nutraceuticalPhase 479967-97-06221, 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,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
(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
(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 D3
Vitamin D3 emulsifiable
Vitinc Dan-Dee-3
ZINC04474460
ZINC04492874
ZINC04492875
ZINC04492876
ZINC04492878
bmse000507
calciol
cholecalciferol
delta-D
vitamin d-3
7
Ergocalciferolapproved, nutraceuticalPhase 492350-14-65280793
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 D
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
8Antirheumatic AgentsPhase 4, Phase 1, Phase 28496
9Hormone AntagonistsPhase 4, Phase 3, Phase 2, Phase 1, Phase 010002
10Peripheral Nervous System AgentsPhase 4, Phase 2, Phase 318510
11Hypnotics and SedativesPhase 4, Phase 22032
12Neurotransmitter AgentsPhase 4, Phase 2, Phase 114795
13HormonesPhase 4, Phase 3, Phase 2, Phase 1, Phase 011748
14Insulin, Globin ZincPhase 4, Phase 24278
15IncretinsPhase 4, Phase 21326
16insulinPhase 4, Phase 24278
17Hypoglycemic AgentsPhase 4, Phase 24503
18Immunologic FactorsPhase 4, Phase 3, Phase 1, Phase 218483
19
SomatostatinPhase 415351110-01-153481605
Synonyms:
growth hormone-inhibiting hormone (GHIH)
 
somatotropin release-inhibiting factor (SRIF)
somatotropin release-inhibiting hormone
20Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 4, Phase 3, Phase 2, Phase 1, Phase 09988
21Analgesics, Non-NarcoticPhase 4, Phase 25184
22Trace ElementsPhase 4, Phase 2, Phase 3, Phase 03900
23vitamin dPhase 41524
24Immunosuppressive AgentsPhase 4, Phase 3, Phase 210422
25MicronutrientsPhase 4, Phase 2, Phase 3, Phase 03901
26ErgocalciferolsPhase 4923
27Bone Density Conservation AgentsPhase 42600
28pancreatinPhase 4, Phase 3, Phase 2, Phase 1, Phase 0880
29VitaminsPhase 4, Phase 3, Phase 2, Phase 03857
30Gastrointestinal AgentsPhase 4, Phase 3, Phase 2, Phase 1, Phase 06401
31AnalgesicsPhase 4, Phase 2, Phase 39358
32Anti-Inflammatory AgentsPhase 4, Phase 3, Phase 28478
33Adrenergic alpha-AgonistsPhase 41300
34Adrenergic alpha-2 Receptor AgonistsPhase 4790
35Adrenergic AgentsPhase 44204
36Adrenergic AgonistsPhase 42331
37Central Nervous System DepressantsPhase 4, Phase 2, Phase 310016
38Sitagliptin PhosphatePhase 4399
39Dipeptidyl-Peptidase IV InhibitorsPhase 4779
40HIV Protease InhibitorsPhase 44558
41Protease InhibitorsPhase 44558
42Protein C InhibitorPhase 485
43Trypsin InhibitorsPhase 4101
44Serine Proteinase InhibitorsPhase 4705
45Alpha 1-AntitrypsinPhase 487
46Protein CPhase 486
47Anti-Inflammatory Agents, Non-SteroidalPhase 43549
48CalciferolNutraceuticalPhase 41074
49Vitamin D2NutraceuticalPhase 4923
50serineNutraceuticalPhase 4770

Interventional clinical trials:

(show top 50)    (show all 159)
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
6Somatostatin, Octreotide, Pentoxyfilline in the Prevention of Post-ERCP Pancreatitis and Molecular MarkersCompletedNCT00222092Phase 4
7WallFlex Biliary Fully Covered (FC) Chronic Pancreatitis StudyRecruitingNCT01543256Phase 4
8Lipidomics, Proteomics, Micro RNAs and Volatile Organic CompoundsRecruitingNCT02531607Phase 4
9Early Oral Versus Enteral Nutrition After PancreatoduodenectomyActive, not recruitingNCT01642875Phase 4
10Sitagliptin Therapy to Improve Outcomes After Islet AutotransplantActive, not recruitingNCT01186562Phase 4
11Anti-inflammatory Therapy to Improve Outcomes After TPIATNot yet recruitingNCT02713997Phase 4
12Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo ControlTerminatedNCT00744250Phase 4
13Study to Evalutate Long-term Immunity of Hantavax in High Risk Population of HFRSCompletedNCT02360514Phase 3
14Role of Antioxidants Supplementation in Chronic PancreatitisCompletedNCT00319358Phase 3
15A Study to Investigate the Effect of Delayed Release Pancrelipase on Maldigestion in Patients With Exocrine Pancreatic Insufficiency Due to Chronic Pancreatitis and PancreatectomyCompletedNCT00414908Phase 3
16A 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
17Pain and Chronic Pancreatitis - Clinical End Experimental StudiesCompletedNCT00755573Phase 2, Phase 3
18Efficacy of EUS-guided Celiac Plexus Blockade in Chronic PancreatitisCompletedNCT00658736Phase 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
23Nonstented Stump-closed vs Duct-to-Mucosa Pancreaticojejunostomy After PancreaticoduodenectomyCompletedNCT01731821Phase 3
24Safety and Efficacy of Synthetic Human Secretin-Enhanced MRCP in Subjects With Abnormalities of the PancreasCompletedNCT00660335Phase 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
26EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic PancreatitisRecruitingNCT00142233Phase 2, Phase 3
27Prospective Study on Endoscopic Ultrasound (EUS) Celiac Bloc Efficacy in Chronic PancreatitisRecruitingNCT01318590Phase 3
28Efficacy and Safety of Reparixin in Pancreatic Islet Auto-transplantationRecruitingNCT01967888Phase 2, Phase 3
29EUS-guided CGN for Inoperable CancerRecruitingNCT02356640Phase 2, Phase 3
30WallFlex Biliary Fully Covered (FC) Benign Stricture StudyActive, not recruitingNCT01014390Phase 3
31Pentoxifylline Treatment in Acute Pancreatitis (AP)Enrolling by invitationNCT02487225Phase 3
32Phase III ALTU-135 CP Safety TrialTerminatedNCT00500084Phase 3
33Efficacy of Methylprednisolone for Hantavirus Cardiopulmonary SyndromeCompletedNCT00128180Phase 2
34A Pilot Study of Use of Calcium Channel Blocker to Decrease Inflammation and Pain in Hereditary PancreatitisCompletedNCT00156403Phase 1, Phase 2
35Δ9-THC (Namisol®) in Chronic Pancreatitis Patients Suffering From Persistent Abdominal PainCompletedNCT01551511Phase 2
36Chronic Pancreatitis. Effect of Pioglitazone on Endocrine Function, Exocrine Function & Structure, Pain & Life QualityCompletedNCT00782795Phase 2
37BreathID® Test: A Non-invasive Modality to Detect Pancreatic Exocrine InsufficiencyCompletedNCT01259544Phase 2
38Secretin Infusion for Pain Due to Chronic PancreatitisCompletedNCT01265875Phase 1, Phase 2
39TMS Treatment for Pain in Chronic PancreatitisCompletedNCT00250484Phase 2
40Efficacy Study of Δ9-THC to Treat Chronic Abdominal PainCompletedNCT01318369Phase 2
41Comparison of Extracorporeal Shock Wave Lithotripsy (ESWL) Alone and ESWL Plus Endoscopy for Painful Chronic PancreatitisCompletedNCT00133835Phase 1, Phase 2
42An Open-Label Study to Evaluate the Intraduodenal Delivery of Enzymes From Administration of VIOKASE16 in Exocrine Pancreatic Insufficiency (EPI)CompletedNCT00559052Phase 2
43Rituximab in IgG4-related Disease: A Phase 1-2 TrialCompletedNCT01584388Phase 1, Phase 2
44Liraglutide to Improve corONary Haemodynamics During Exercise streSSCompletedNCT02315001Phase 2
45Phase 2a Immunogenicity Study of Hantaan/Puumala Virus DNA Vaccine for Prevention of Hemorrhagic FeverRecruitingNCT02116205Phase 2
46Pancreatic Perfusion Using Secretin and MRIRecruitingNCT02458118Phase 1, Phase 2
47A Dose Ranging Study Evaluating Efficacy and Safety of NI-03RecruitingNCT02693093Phase 1, Phase 2
48Neurophysiological Effects on tPCS and tDCS on Healthy Subjects and on Patients With Chronic Visceral PainRecruitingNCT02497196Phase 1, Phase 2
49The Effect of Pancreatic Polypeptide on Insulin Requirements for Type 1 & Post-pancreatectomy Diabetic PatientsActive, not recruitingNCT00791076Phase 2
50TMS for the Treatment of Pancreatic Cancer PainActive, not recruitingNCT00324428Phase 2

Search NIH Clinical Center for Pancreatitis, Hereditary

Genetic Tests for Pancreatitis, Hereditary

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Genetic tests related to Pancreatitis, Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Pancreatitis22 SPINK1
2 Pancreatitis, Chronic, Protection Against22 PRSS2

Anatomical Context for Pancreatitis, Hereditary

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MalaCards organs/tissues related to Pancreatitis, Hereditary:

33
Pancreas, Bone, Testes, Myeloid, Pancreatic islet, Brain, Colon

Animal Models for Pancreatitis, Hereditary or affiliated genes

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MGI Mouse Phenotypes related to Pancreatitis, Hereditary:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053767.3ABCC10, ADH1C, APOC2, BRCA2, CCK, CFTR

Publications for Pancreatitis, Hereditary

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Articles related to Pancreatitis, Hereditary:

idTitleAuthorsYear
1
Oxidovanadium(IV) complexes with chrysin and silibinin: anticancer activity and mechanisms of action in a human colon adenocarcinoma model. (26404080)
2015
2
Blood sample processing effect on eosinophil cationic protein concentration. (9109707)
1997

Variations for Pancreatitis, Hereditary

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

67 (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_006720
12PRSS1p.Arg122HisVAR_006721
13PRSS1p.Asp22GlyVAR_011652
14PRSS1p.Lys23ArgVAR_011653
15PRSS1p.Leu104ProVAR_011654
16PRSS1p.Arg116CysVAR_011655
17PRSS1p.Cys139PheVAR_011656
18PRSS1p.Ala16ValVAR_011693
19PRSS1p.Asn29ThrVAR_012712
20PRSS1p.Arg122CysVAR_012713
21PRSS1p.Asn54SerVAR_037908
22PRSS1p.Glu79LysVAR_037909rs111033564
23SPINK1p.Leu14ProVAR_011688
24SPINK1p.Asn34SerVAR_011689rs17107315
25SPINK1p.Leu12PheVAR_032011rs35877720

Clinvar genetic disease variations for Pancreatitis, Hereditary:

5 (show all 44)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_002769.4(PRSS1): c.365G> A (p.Arg122His)single nucleotide variantPathogenicrs111033565GRCh37Chr 7, 142459789: 142459789
2NM_002769.4(PRSS1): c.86A> T (p.Asn29Ile)single nucleotide variantPathogenicrs111033566GRCh37Chr 7, 142458451: 142458451
3NM_002769.4(PRSS1): c.68A> G (p.Lys23Arg)single nucleotide variantPathogenicrs111033567GRCh37Chr 7, 142458433: 142458433
4PRSS1PRSS1, 3-BP DELdeletionPathogenic
5NM_002769.4(PRSS1): c.235G> A (p.Glu79Lys)single nucleotide variantPathogenicrs111033564GRCh37Chr 7, 142459659: 142459659
6NM_002769.4(PRSS1): c.161A> G (p.Asn54Ser)single nucleotide variantPathogenicrs144422014GRCh37Chr 7, 142458526: 142458526
7NM_002769.4(PRSS1): c.365_366delGCinsAT (p.Arg122His)indelPathogenicrs267606982GRCh37Chr 7, 142459789: 142459790
8NM_002769.4(PRSS1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs111033568GRCh37Chr 7, 142459788: 142459788
9PRSS1PRSS1, TRIPLICATIONundetermined variantPathogenic
10SPINK1NM_003122.4(SPINK1): c.194+2T> Csingle nucleotide variantPathogenicrs148954387GRCh38Chr 5, 147828020: 147828020
11SPINK1NM_003122.4(SPINK1): c.150T> G (p.Asp50Glu)single nucleotide variantPathogenicrs515726206GRCh38Chr 5, 147828066: 147828066
12SPINK1NM_003122.4(SPINK1): c.160T> C (p.Tyr54His)single nucleotide variantPathogenicrs515726207GRCh38Chr 5, 147828056: 147828056
13SPINK1NM_003122.4(SPINK1): c.199C> T (p.Arg67Cys)single nucleotide variantPathogenicrs515726208GRCh38Chr 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)single nucleotide variantPathogenicrs515726209GRCh37Chr 1, 15767073: 15767073
17CTRCNM_007272.2(CTRC): c.738_761del24 (p.Lys247_Arg254del)deletionPathogenicrs515726210GRCh37Chr 1, 15772190: 15772213
18PRSS1NP_002760.1: p.Cys139Serprotein onlyPathogenic
19SPINK1NM_003122.4(SPINK1): c.101A> G (p.Asn34Ser)single nucleotide variantPathogenic, risk factorrs17107315GRCh37Chr 5, 147207678: 147207678
20SPINK1NM_003122.4(SPINK1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs104893938GRCh37Chr 5, 147211139: 147211139
21SPINK1SPINK1, -215G-Asingle nucleotide variantPathogenic
22SPINK1NM_003122.4(SPINK1): c.41T> C (p.Leu14Pro)single nucleotide variantPathogenicrs104893939GRCh37Chr 5, 147211100: 147211100
23SPINK1NM_003122.4(SPINK1): c.41T> G (p.Leu14Arg)single nucleotide variantPathogenicrs104893939GRCh37Chr 5, 147211100: 147211100
24SPINK1SPINK1, 1.3-KB DELdeletionPathogenic
25NM_002769.4(PRSS1): c.347G> C (p.Arg116Pro)single nucleotide variantLikely pathogenicrs199769221GRCh38Chr 7, 142751920: 142751920
26CFTRNM_000492.3(CFTR): c.220C> T (p.Arg74Trp)single nucleotide variantLikely pathogenicrs115545701GRCh37Chr 7, 117149143: 117149143
27NM_002769.4(PRSS1): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs387906698GRCh37Chr 7, 142459770: 142459770
28NM_002769.4(PRSS1): c.389C> T (p.Thr130Ile)single nucleotide variantLikely pathogenicrs193922655GRCh37Chr 7, 142459813: 142459813
29NM_002769.4(PRSS1): c.398C> G (p.Pro133Arg)single nucleotide variantLikely pathogenicrs193922656GRCh37Chr 7, 142459822: 142459822
30SPINK1NM_003122.4(SPINK1): c.163C> T (p.Pro55Ser)single nucleotide variantPathogenicrs111966833GRCh37Chr 5, 147207616: 147207616
31SPINK1NM_003122.4(SPINK1): c.27delC (p.Ser10Valfs)deletionPathogenicrs193922659GRCh37Chr 5, 147211114: 147211114
32NM_002769.4(PRSS1): c.116T> C (p.Val39Ala)single nucleotide variantPathogenicrs397507439GRCh37Chr 7, 142458481: 142458481
33NM_002769.4(PRSS1): c.415T> A (p.Cys139Ser)single nucleotide variantPathogenicrs397507440GRCh37Chr 7, 142459839: 142459839
34NM_002769.4(PRSS1): c.47C> T (p.Ala16Val)single nucleotide variantPathogenicrs202003805GRCh37Chr 7, 142458412: 142458412
35NM_002769.4(PRSS1): c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle)duplicationPathogenicrs397507441GRCh37Chr 7, 142458428: 142458436
36NM_002769.4(PRSS1): c.65A> G (p.Asp22Gly)single nucleotide variantPathogenicrs397507442GRCh37Chr 7, 142458430: 142458430
37NM_002769.4(PRSS1): c.86A> C (p.Asn29Thr)single nucleotide variantPathogenicrs111033566GRCh37Chr 7, 142458451: 142458451
38CFTRNM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)deletionPathogenicrs113993960GRCh37Chr 7, 117199646: 117199648
39CFTRNM_000492.3(CFTR): c.1624G> T (p.Gly542Ter)single nucleotide variantPathogenicrs113993959GRCh37Chr 7, 117227832: 117227832
40CFTRNM_000492.3(CFTR): c.1652G> A (p.Gly551Asp)single nucleotide variantPathogenicrs75527207GRCh37Chr 7, 117227860: 117227860
41CFTRNM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn)single nucleotide variantPathogenicrs11971167GRCh37Chr 7, 117282582: 117282582
42CFTRNM_000492.3(CFTR): c.2991G> C (p.Leu997Phe)single nucleotide variantPathogenic, risk factorrs1800111GRCh37Chr 7, 117250575: 117250575
43CTRCNM_007272.2(CTRC): c.760C> T (p.Arg254Trp)single nucleotide variantPathogenic, risk factorrs121909293GRCh37Chr 1, 15772212: 15772212
44CTRCNM_007272.2(CTRC): c.164G> A (p.Trp55Ter)single nucleotide variantPathogenic, risk factorrs121909294GRCh37Chr 1, 15767020: 15767020

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
1early endosomeGO:000576910.0APOC2, CFTR, HSPD1
2extracellular regionGO:00055769.6CCK, PRSS2, SCT, SST

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

idNameGO IDScoreTop Affiliating Genes
1digestionGO:000758610.0PRSS2, SST
2lipid catabolic processGO:00160429.7APOC2, LPL, PNLIP
3retinoid metabolic processGO:00015239.2APOC2, LPL, PNLIP

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

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:000425210.0ELANE, PRSS1

Sources for Pancreatitis, Hereditary

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet