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PCTT
MCID: PNC108
MIFTS: 70

Pancreatitis, Hereditary (PCTT)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Pancreatitis, Hereditary

About this section

MalaCards integrated aliases for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 56 74 73 13
Hereditary Pancreatitis 74 52 25 36 29 6 71
Chronic Pancreatitis 73 36 29 54 6 17
Pancreatitis, Chronic, Protection Against 56 29 6
Pancreatitis, Chronic, Susceptibility to 56 29 6
Hereditary Chronic Pancreatitis 52 25 58
Hp 56 25 73
Autosomal Dominant Hereditary Pancreatitis 25 71
Pancreatitis, Chronic 56 71
Pctt 56 73
Hpc 56 73
Pancreatitis Hereditary 54
Familial Pancreatitis 25
Cp 73

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
pancreatitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


External Ids:

OMIM 56 167800
MeSH 43 D010195
ICD10 via Orphanet 33 K86.1
UMLS via Orphanet 72 C0238339 C0341474
Orphanet 58 ORPHA676
UMLS 71 C0149521 C0238339 C4080064
Sources

Summaries for Pancreatitis, Hereditary

About this section
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. Signs and symptoms of this condition usually begin in late childhood with an episode of acute pancreatitis. A sudden (acute) attack can cause abdominal pain, fever, nausea, or vomiting. An episode typically lasts from one to three days, although some people may experience severe episodes that last longer. Hereditary pancreatitis progresses to recurrent acute pancreatitis with multiple episodes of acute pancreatitis that recur over a period of at least a year; the number of episodes a person experiences varies. Recurrent acute pancreatitis leads to chronic pancreatitis, which occurs when the pancreas is persistently inflamed. Chronic pancreatitis usually develops by early adulthood in affected individuals. Signs and symptoms of chronic pancreatitis include occasional or frequent abdominal pain of varying severity, flatulence, and bloating. Many individuals with hereditary pancreatitis also develop abnormal calcium deposits in the pancreas (pancreatic calcifications) by early adulthood. Years of inflammation damage the pancreas, causing the formation of scar tissue (fibrosis) in place of functioning pancreatic tissue. Pancreatic fibrosis leads to the loss of pancreatic function in many affected individuals. This loss of function can impair the production of digestive enzymes and disrupt normal digestion, leading to fatty stool (steatorrhea), weight loss, and protein and vitamin deficiencies. Because of a decrease in insulin production due to a loss of pancreatic function, about a quarter of individuals with hereditary pancreatitis will develop type 1 diabetes mellitus by mid-adulthood; the risk of developing diabetes increases with age. Chronic pancreatic inflammation and damage to the pancreas increase the risk of developing pancreatic cancer. The risk is particularly high in people with hereditary pancreatitis who also smoke, use alcohol, have type 1 diabetes mellitus, or have a family history of cancer. In affected individuals who develop pancreatic cancer, it is typically diagnosed in mid-adulthood. Complications from pancreatic cancer and type 1 diabetes mellitus are the most common causes of death in individuals with hereditary pancreatitis, although individuals with this condition are thought to have a normal life expectancy.

MalaCards based summary : Pancreatitis, Hereditary, also known as hereditary pancreatitis, is related to prostate disease and pancreatitis. An important gene associated with Pancreatitis, Hereditary is SPINK1 (Serine Peptidase Inhibitor Kazal Type 1), and among its related pathways/superpathways are Pancreatic secretion and Protein digestion and absorption. The drugs Tocopherol and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include pancreas, testes and pancreatic islet, and related phenotypes are abdominal pain and elevated c-reactive protein level

NIH Rare Diseases : 52 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.

KEGG : 36 Hereditary pancreatitis is a very rare form of chronic relapsing pancreatitis. Its inheritance mode is autosomal dominant with an incomplete penetrance (80%). Patients had recurrent pancreatitis with impairment of endocrine and exocrine pancreatic function, maldigestion, bile duct and duodenal obstruction, and rarely pancreatic cancer. The age of onset is early and differs from the cases of non-hereditary pancreatitis.

UniProtKB/Swiss-Prot : 73 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.

Wikipedia : 74 Hereditary pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was... more...

More information from OMIM: 167800
Sources

Related Diseases for Pancreatitis, Hereditary

About this section

Diseases in the Pancreatitis family:

Pancreatitis, Hereditary Autoimmune Pancreatitis
Acute Pancreatitis Prss1-Related Hereditary Pancreatitis
Autoimmune Pancreatitis Type 2 Autoimmune Pancreatitis Type 1

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

(show top 50) (show all 1063)
# Related Disease Score Top Affiliating Genes
1 prostate disease 31.8 MIR199A1 MIR195 MIR126 MIR125A
2 pancreatitis 31.2 SPINK1 PRSS2 PRSS1 CTRC CFTR
3 biliary dyskinesia 30.8 SPINK1 PRSS1 CFTR
4 pancreas, annular 30.8 SPINK1 PRSS1
5 acute pancreatitis 30.7 SPINK1 PRSS1 CFTR
6 exocrine pancreatic insufficiency 30.5 SPINK1 PRSS1 CFTR
7 pancreatic agenesis 1 30.2 SPINK1 CFTR
8 duodenal obstruction 30.2 SPINK1 PRSS1
9 alcoholic pancreatitis 30.2 SPINK1 PRSS1 CFTR
10 linitis plastica 30.1 PRSS2 PRSS1
11 prss1-related hereditary pancreatitis 30.0 SPINK1 PRSS2 PRSS1 CTRC CFTR
12 bone inflammation disease 30.0 MIR199A1 MIR126 MIR125B1 MIR125A
13 gastrointestinal system disease 30.0 MIR199A1 MIR195 MIR126 MIR125B1 MIR125A MIR10B
14 tropical calcific pancreatitis 30.0 SPINK1 PRSS2 PRSS1 CTRC
15 gallbladder disease 30.0 MIR199A1 MIR126 CFTR
16 breast disease 29.8 MIR199A1 MIR126 MIR125B1 MIR125A MIR10B
17 intestinal disease 29.7 MIR199A1 MIR126 MIR125B1 MIR125A
18 connective tissue disease 29.6 MIR199A1 MIR126 MIR125B1 MIR125A MIR10B
19 leukemia, acute lymphoblastic 29.5 MIR199B MIR199A1 MIR128-2 MIR126 MIR125A
20 leukemia, acute myeloid 29.4 MIR339 MIR199B MIR199A1 MIR195 MIR128-2 MIR126
21 pancreas disease 29.4 MIR199A1 MIR195 MIR126 MIR125B1 MIR125A MIR10B
22 overnutrition 29.3 MIR199A1 MIR126 MIR125A
23 leukemia, chronic lymphocytic 29.3 MIR339 MIR199A1 MIR195 MIR126 MIR125B1 MIR125A
24 pancreatic cancer 29.1 SPINK1 PRSS1 MIR199A2 MIR199A1 MIR195 MIR128-2
25 lung cancer 27.9 MIR409 MIR339 MIR199B MIR199A1 MIR198 MIR197
26 hantavirus pulmonary syndrome 12.4
27 extrinsic allergic alveolitis 12.3
28 aceruloplasminemia 12.1
29 cerebral palsy 12.0
30 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.9
31 cleft palate, isolated 11.8
32 hepatopulmonary syndrome 11.8
33 neurodegeneration with brain iron accumulation 11.7
34 anhaptoglobinemia 11.7
35 leukemia, chronic myeloid 11.6
36 primary hyperoxaluria 11.6
37 hermansky-pudlak syndrome 1 11.6
38 hermansky-pudlak syndrome 5 11.6
39 liver disease 11.6
40 hemangiopericytoma, malignant 11.6
41 wilson disease 11.6
42 hermansky-pudlak syndrome with pulmonary fibrosis 11.5
43 heart disease 11.5
44 neutropenia 11.5
45 hermansky-pudlak syndrome 2 11.5
46 alzheimer disease 11.5
47 hemochromatosis, type 1 11.5
48 deficiency anemia 11.5
49 spastic cerebral palsy 11.5
50 spastic diplegia 11.5

Comorbidity relations with Pancreatitis, Hereditary via Phenotypic Disease Network (PDN): (show all 14)


Active Peptic Ulcer Disease Acute Cystitis
Acute Pancreatitis Cholangitis
Cholestasis Chylomicron Retention Disease
Deficiency Anemia Esophagitis
Heart Disease Hypertension, Essential
Intestinal Obstruction Pancreatic Cancer
Paralytic Ileus Protein-Energy Malnutrition

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



Diseases related to Pancreatitis, Hereditary
Sources

Symptoms & Phenotypes for Pancreatitis, Hereditary

About this section

Human phenotypes related to Pancreatitis, Hereditary:

58 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 31 hallmark (90%) Very frequent (99-80%) HP:0002027
2 elevated c-reactive protein level 58 31 hallmark (90%) Very frequent (99-80%) HP:0011227
3 leukocytosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0001974
4 recurrent pancreatitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100027
5 abnormal enzyme/coenzyme activity 58 31 frequent (33%) Frequent (79-30%) HP:0012379
6 jaundice 58 31 occasional (7.5%) Occasional (29-5%) HP:0000952
7 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
8 pancreatic calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0005213
9 splanchnic vein thrombosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0030247
10 fever 31 HP:0001945
11 exocrine pancreatic insufficiency 31 HP:0001738
12 steatorrhea 31 HP:0002570
13 pleural effusion 31 HP:0002202
14 pancreatitis 31 HP:0001733
15 abnormal thrombosis 31 HP:0001977
16 pancreatic pseudocyst 31 HP:0005206

Symptoms via clinical synopsis from OMIM:

56
Metabolic:
diabetes mellitus

Vascular:
portal or splenic vein thrombosis

Misc:
fever with attacks
emotional upset, alcohol or high fat intake produce attacks

G I:
steatorrhea
pancreatitis
pancreatic calcification
pancreatic insufficiency
severe abdominal pain attacks
more
Pulmonary:
hemorrhagic pleural effusion

Lab:
urinary excretion of lysine and cystine
marked elevation of serum amylase with attacks

Clinical features from OMIM:

167800
Sources

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 202)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tocopherol Approved, Investigational Phase 4 1406-66-2, 54-28-4 14986
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Thrombin Approved, Investigational Phase 4
5
Atropine Approved, Vet_approved Phase 4 51-55-8, 5908-99-6 174174
6
Glycolic acid Approved, Investigational Phase 4 79-14-1 757
7
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
8
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
9
Secretin Approved Phase 4 108153-74-8
10
Protein C Approved Phase 4
11
Etanercept Approved, Investigational Phase 4 185243-69-0
12
Glycerol Approved, Investigational Phase 4 56-81-5 753
13
Vitamin E Approved, Nutraceutical, Vet_approved Phase 4 59-02-9 14985
14
Vitamin D3 Approved, Nutraceutical Phase 4 67-97-0 5280795 6221
15 Tocotrienol Investigational Phase 4 6829-55-6
16 Fibrin Tissue Adhesive Phase 4
17 Antihypertensive Agents Phase 4
18 Vitamins Phase 4
19 Tocopherols Phase 4
20 Tocotrienols Phase 4
21 Insulin, Globin Zinc Phase 4
22 Hypoglycemic Agents Phase 4
23 insulin Phase 4
24 Pharmaceutical Solutions Phase 4
25 Soy Bean Phase 4
26 Hypnotics and Sedatives Phase 4
27 Incretins Phase 4
28 Liver Extracts Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Adrenergic Agonists Phase 4
31 Dipeptidyl-Peptidase IV Inhibitors Phase 4
32 Sitagliptin Phosphate Phase 4
33 Parenteral Nutrition Solutions Phase 4
34 Fat Emulsions, Intravenous Phase 4
35 Soybean oil, phospholipid emulsion Phase 4
36 Lecithin Phase 4
37 Silybin Phase 4
38 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
39 Analgesics, Non-Narcotic Phase 4
40 Cyclooxygenase Inhibitors Phase 4
41 Tocolytic Agents Phase 4
42 Antirheumatic Agents Phase 4
43 Immunosuppressive Agents Phase 4
44 Immunologic Factors Phase 4
45 Protective Agents Phase 4
46 Serine Proteinase Inhibitors Phase 4
47 Alpha 1-Antitrypsin Phase 4
48
protease inhibitors Phase 4
49 HIV Protease Inhibitors Phase 4
50 Trypsin Inhibitors Phase 4

Interventional clinical trials:

(show top 50) (show all 244)
# Name Status NCT ID Phase Drugs
1 The Effect of Application of Fibrinogen/Thrombin-coated Collagen Patch (TachoSil®) in Pancreaticojejunostomy for Prevention of Pancreatic Fistula After Pancreatoduodenectomy Unknown status NCT03269955 Phase 4 Fibrinogen/thrombin-coated collagen patch
2 Evaluation of the Digestive and Metabolic Utilisation of Dietary Protein in Patients With Chronic Pancreatitis Completed NCT00957151 Phase 4 Creon
3 A Prospective Study of Celiac Block Technique: One Injection or Two? Completed NCT00583479 Phase 4
4 Double-blind Randomized Study to Determine the Efficacy of Intramuscular Vitamin D3 Supplementation in Tropical Calcific Pancreatitis Completed NCT00956839 Phase 4 Vitamin D3 (Cholecalciferol)
5 Enzyme Substitution in Exocrine Pancreatic Insufficiency; Self Administration Against a Fixed Dose Regimen Completed NCT01430234 Phase 4 Panzytrat 25.000 FIP-E units of Lipase
6 Dexmedetomidine vs Placebo in ERCP Sedation.A Randomized Pilot Study Completed NCT01070680 Phase 4 Precedex;sodium chlorid 0,9%
7 A Double-Blind, Randomized, Placebo Controlled Intervention Study to Assess the Impact of Sitagliptin 100 mg/Day for 1 Year on Insulin Independence Following Pancreatectomy and Autoislet Transplantation Completed NCT01186562 Phase 4 Sitagliptin;Placebo
8 Use of Polyethylene Glycolic Acid or Tachocomb to Prevent Pancreatic Fistula Following Distal Pancreatectomy: Prospective Multicenter Randomized Study Completed NCT01550406 Phase 4
9 To Study the Effects of Lipid Emulsion on Hemodynamics in Organophosphate Compound Poisoning Completed NCT03564574 Phase 4
10 Metabolic and Vascular Effects of Silybin in Hypertensive Patients With High One-hour Post-load Plasma Glucose: a Single Arm Pilot Study Completed NCT03538327 Phase 4 Silybin
11 Anti-inflammatory Therapy to Improve Outcomes in Patients With Chronic Pancreatitis Undergoing Total Pancreatectomy Islet Autotransplantation Recruiting NCT02713997 Phase 4 etanercept;Alpha 1-Antitrypsin
12 Early Oral Versus Enteral Nutrition After Pancreatoduodenectomy for Periampullary Tumors: a Prospective, Randomized, Controlled Clinical Trial Recruiting NCT01642875 Phase 4
13 Rectally Administered Indomethacin to Prevent Post-ESWL-pancreatitis (RIPEP) Recruiting NCT02797067 Phase 4 indomethacin suppository;Glycerin Suppository
14 Intraductal Secretin Stimulation Test: What Is the Proper Collection Time? Recruiting NCT03263481 Phase 4 Human Secretin for injection 16 mcg
15 A Multi-Center, Prospective, Randomized Study Comparing Removable, Self-Expanding Metal Stents to Plastic Stents for the Treatment of Benign Biliary Strictures Secondary to Chronic Pancreatitis Active, not recruiting NCT01543256 Phase 4
16 A Phase 4 Open-Label Single-Arm Study To Evaluate The Use Of CREON In Subjects With EPI Due To Etiologies Other Than Cystic Fibrosis, Chronic Pancreatitis, Pancreatectomy, Or Pancreatic Cancer Not yet recruiting NCT04315311 Phase 4 CREON
17 Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo Control in Patients With Pancreatic Insufficiency Terminated NCT00744250 Phase 4 Pancrelipase
18 Evaluation of a Modified Procedure of Digestive Tract Reconstruction Following Pancreatoduodenectomy: A Multicenter Randomized Controlled Study Unknown status NCT01931449 Phase 3
19 Effect on Migraine Frequency of Combined Anti-oxidant Therapy: N-acetylcysteine, Vitamin E and Vitamin C (NEC): The MIGRANT Study Unknown status NCT02629536 Phase 3 N-acetyl cysteine 600 mg, VitE 250 IU, VitC 500 mg tablet
20 Double Blind Randomised Controlled Trial to Investigate the Efficacy of ANTOX (Vers) 1.2 and MGCT (Magnesiocard) for the Treatment of Hereditary Pancreatitis and Idiopathic Chronic Pancreatitis Completed NCT00142233 Phase 3 Magnesium
21 A Study to Investigate the Effect of Delayed Release Pancrelipase on Maldigestion in Patients With Exocrine Pancreatic Insufficiency Due to Chronic Pancreatitis and Pancreatectomy Completed NCT00414908 Phase 3 Pancrelipase delayed release capsule;Placebo Comparator
22 A One-year Open-label Study to Assess the Safety of Oral Long-term Use of SA-001 in Patients With Pancreatic Exocrine Insufficiency Caused by Chronic Pancreatitis or by Pancreatectomy Completed NCT00401076 Phase 3 SA-001
23 A Double-blind, Placebo-controlled, Parallel-group, Comparative Study to Confirm the Safety and Efficacy of Oral 1.5 g/Day and 3.0 g/Day of SA-001 in Patients With Pancreatic Exocrine Insufficiency Caused by Chronic Pancreatitis or by Pancreatectomy Completed NCT00400842 Phase 3 SA-001;SA-001;Placebo
24 Effect of Antioxidant Supplementation on Pain, Antioxidant Profile and Oxidative Stress in Patients With Chronic Pancreatitis Completed NCT00319358 Phase 3
25 A One Week Double-Blind, Randomized, Placebo-Controlled, Parallel Group, Multi-Center Study With Creon 40,000 MMS in Subjects With Pancreatic Exocrine Insufficiency Due to Chronic Pancreatitis, Followed by an Open-Label Long-Term Extension Completed NCT00705978 Phase 3 Pancreatin;Placebo
26 A Randomized, Triple-Blinded Study of Endoscopic Ultrasound Guided Celiac Plexus Blockade (EUS-CPB) With Bupivicaine and Triamcinolone vs. Bupivicaine Alone for the Treatment of Pain in Chronic Pancreatitis Completed NCT00658736 Phase 3 Triamcinolone;Bupivicaine alone
27 A Randomized, Double-Blind, Placebo-Controlled, Parallel Group Clinical and Experimental Pilot Study of Pregabalin in Patients With Chronic Pancreatitis Completed NCT00755573 Phase 2, Phase 3 Pregabalin;placebo
28 A Randomized, Double-Blind, Dose Response-Control, Crossover Study to Evaluate the Safety and Efficacy of Two Doses of EUR-1008 in Chronic Pancreatitis (CP) Patients With Exocrine Pancreatic Insufficiency (EPI) Completed NCT00788593 Phase 3 Placebo;EUR-1008 (APT-1008) High Dose;EUR-1008 (APT-1008) Low Dose
29 A Multicenter, Randomized, Double-blind, Parallel, Placebo-controlled, Phase III Study to Assess the Safety and Efficacy of Viokase® 16 for the Correction of Steatorrhea in Patients With Exocrine Pancreatic Insufficiency Completed NCT00559364 Phase 3 Viokase® 16;Placebo;Proton pump inhibitor (PPI);Omeprazole
30 A Phase 2/3, Multicenter, Randomized, Double-blind, Placebo-controlled, Parallel Assignment Study to Assess the Efficacy and Safety of Reparixin in Pancreatic Islet Auto-transplantation Completed NCT01967888 Phase 2, Phase 3 Reparixin;Placebo
31 A Multi-Center, Prospective Study of the WallFlex Biliary RX Fully Covered Stent for the Treatment of Benign Biliary Strictures Completed NCT01014390 Phase 3
32 A 12-Week Open-Label Study With 3 Within-Patient Double-Blind Placebo-Controlled Periods 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 Pain Completed NCT00343733 Phase 3 OraVescent Fentanyl
33 Pentoxifylline Treatment in Acute Pancreatitis: A Double-Blind Placebo - Controlled Randomized Trial Completed NCT02487225 Phase 3 Pentoxifylline;Placebo
34 Nalmefene Efficacy Study II: Randomised, Double-blind, Placebo-controlled, Parallel-group, Efficacy Study of 20 mg Nalmefene, as Needed Use, in Patients With Alcohol Dependence Completed NCT00812461 Phase 3 Placebo;Nalmefene
35 A 52-week, Randomised, Double-blind, Placebo-controlled, Parallel-group, Safety, Tolerability and Efficacy Study of Nalmefene, as Needed Use, in Patients With Alcohol Dependence Completed NCT00811941 Phase 3 Placebo;Nalmefene
36 Nalmefene Efficacy Study I: Randomised, Double-blind, Placebo-controlled, Parallel-group, Efficacy Study of 20 mg Nalmefene, As-needed Use, in Patients With Alcohol Dependence Completed NCT00811720 Phase 3 Placebo;Nalmefene
37 Does Glyceryl Nitrate Prevent Post-Endoscopic Retrograde Cholangiopancreaticography (ERCP) Pancreatitis? Completed NCT00121901 Phase 3 glyceryl nitrate
38 A Prospective Randomized Clinical Trial of Two Surgical Techniques for Pancreaticojejunostomy in Patients Undergoing Pancreaticoduodenectomy: Nonstented Stump-closed vs Duct-to-Mucosa Pancreaticojejunostomy Completed NCT01731821 Phase 3
39 Simvastatin in the Prevention of Recurrent Pancreatitis, a Triple Blind, Randomized Controlled Trial Recruiting NCT04021498 Phase 3 Simvastatin 40mg
40 Use of Hemopatch as a Sealant at the Pancreaticojejunostomy After Pancreatoduodenectomy to Prevent Postoperative Pancreatic Fistula Recruiting NCT03419676 Phase 3
41 Estudio clínico Fase III Para Evaluar la Eficacia terapéutica en Pacientes Mexicanos Con Dislipidemia Mediante el Uso vía Oral de L-Carnitina + Atorvastatina Comparado Con Atorvastatina Active, not recruiting NCT03696940 Phase 3 L-Carnitine 500Mg Oral Tablet + Atorvastatin 10 mg;Atorvastatin 10mg
42 Prospective Study on Endoscopic Ultrasound (EUS) Celiac Bloc Efficacy in Chronic Pancreatitis Terminated NCT01318590 Phase 3 EUS procedure with drug injection
43 An Open-Label Clinical Study Evaluating the Long Term Safety of ALTU-135 in the Treatment of Patients With Exocrine Pancreatic Insufficiency Due to Chronic Pancreatitis or Pancreatectomy Terminated NCT00500084 Phase 3 Liprotamase
44 A Randomized Controlled Trial on Endoscopic Ultrasound-guided Celiac Ganglion Neurolysis Versus Percutaneous Celiac Plexus Neurolysis in Patients With Inoperable Cancer Terminated NCT02356640 Phase 2, Phase 3 Levobupivacaine
45 Study to Assess Pancreatic Blood Flow at Rest and During Stimulation Using Magnetic Resonance Imaging (fMRI) in Patients With Chronic Pancreatitis Unknown status NCT02458118 Phase 1, Phase 2 Secretin
46 The Analgesic Efficacy of Perioperative Δ9-THC (Namisol®) in Patients Undergoing Major Abdominal Surgery: A Randomized, Double Blinded, Placebo-controlled, Parallel Design Unknown status NCT01790555 Phase 2 Namisol;Diazepam/placebo
47 Hereditary Pancreatitis Amlodipine Trial(H-PAT): A Pilot Study Completed NCT00156403 Phase 1, Phase 2 amlodipine (drug)
48 A Novel Approach to Harvest Islets for Autologous Islet Transplantation Completed NCT02567240 Phase 1, Phase 2
49 Phase II Study of Chronic Pancreatitis and the Effect of Pioglitazone on Endocrine Function, Exocrine Function & Structure, Pain & Life Quality Completed NCT00782795 Phase 2 Pioglitazone;Placebo
50 BreathID® Test: A Non-invasive Modality to Detect Pancreatic Exocrine Insufficiency Completed NCT01259544 Phase 2 benzoyl-L-tyrosyl-[1-13C]alanine (Bz-Tyr-Ala);benzoyl-L-tyrosyl-[1-13C]alanine (Bz-Tyr-Ala)

Search NIH Clinical Center for Pancreatitis, Hereditary

Sources

Genetic Tests for Pancreatitis, Hereditary

About this section

Genetic tests related to Pancreatitis, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Pancreatitis 29 CFTR CTRC PRSS1 PRSS2 SPINK1
2 Pancreatitis, Chronic, Susceptibility to 29
3 Chronic Pancreatitis 29
4 Pancreatitis, Chronic, Protection Against 29
Sources

Anatomical Context for Pancreatitis, Hereditary

About this section

MalaCards organs/tissues related to Pancreatitis, Hereditary:

40
Pancreas, Testes, Pancreatic Islet, Liver, Bone, Lymph Node, Brain
Sources

Publications for Pancreatitis, Hereditary

About this section

Articles related to Pancreatitis, Hereditary:

(show top 50) (show all 948)
# Title Authors PMID Year
1
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. 56 6 54 61
17274009 2007
2
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. 54 6 56 61
10204851 1999
3
Determination of the relative contribution of three genes-the cystic fibrosis transmembrane conductance regulator gene, the cationic trypsinogen gene, and the pancreatic secretory trypsin inhibitor gene-to the etiology of idiopathic chronic pancreatitis. 56 54 6
11938439 2002
4
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 54 6 56
10835640 2000
5
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 56 6 61
9322498 1997
6
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 61 6 56
8841182 1996
7
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. 56 6
18172691 2008
8
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. 56 6
18059268 2008
9
Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general? 6 56
6023921 1967
10
A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site. 54 6 61
18511571 2008
11
Hereditary pancreatitis caused by triplication of the trypsinogen locus. 6 61 54
17072318 2006
12
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. 54 6 61
17003641 2006
13
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. 61 54 6
11950817 2002
14
Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma. 61 56
31369399 2019
15
Pancreatitis Overview 61 6
24624459 2014
16
PRSS1-Related Hereditary Pancreatitis 6 61
22379635 2012
17
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations. 61 6
20452997 2010
18
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. 61 6
19191323 2009
19
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis. 54 56
17539902 2007
20
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. 54 56
17489851 2007
21
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. 6 54
16823394 2006
22
Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis. 6 61
16791840 2006
23
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. 54 6
16699518 2006
24
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. 6 54
15776435 2005
25
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). 54 6
14695529 2004
26
The course of genetically determined chronic pancreatitis. 6 54
12853682 2003
27
Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants. 61 6
11866271 2002
28
R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis. 61 6
11842279 2001
29
Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis. 6 54
11355022 2001
30
Molecular basis of hereditary pancreatitis. 6 61
10909845 2000
31
Origin and implication of the hereditary pancreatitis-associated N21I mutation in the cationic trypsinogen gene. 6 61
10982192 2000
32
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. 54 56
9725921 1998
33
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. 54 56
9725922 1998
34
Heterogeneity in hereditary pancreatitis. 56 61
9557894 1998
35
Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. 61 56
9091646 1997
36
Linkage studies in a large kindred with hereditary pancreatitis confirms mapping of the gene to a 16-cM region on 7q. 56 61
8954806 1996
37
A gene for hereditary pancreatitis maps to chromosome 7q35. 56 61
8964426 1996
38
The hereditary pancreatitis gene maps to long arm of chromosome 7. 56 61
8845851 1996
39
Two forms of hereditary chronic pancreatitis. 56 61
8720659 1996
40
Surgical management of hereditary pancreatitis: report of a case and presentation of a new family. 56 61
8022767 1994
41
Pancreatography in a family with hereditary pancreatitis. 56 61
3976423 1985
42
Hereditary pancreatitis in England and Wales. 56 61
671483 1978
43
Hereditary pancreatitis. Nonspecificity of aminoaciduria and diagnosis of occult disease. 56 61
1130928 1975
44
Hereditary pancreatitis. Review and presentation of an additional kindred. 56 61
4808576 1974
45
Hereditary pancreatitis in a Newcastle family. 61 56
4783002 1973
46
Hereditary pancreatitis: three new kindreds and a critical review of the literature. 56 61
4567584 1973
47
Hereditary pancreatitis in a kinship associated with portal vein thrombosis. 61 56
5062005 1972
48
Hereditary pancreatitis. A kindred without gross aminoaciduria. 61 56
5635333 1968
49
URINARY EXCRETION OF AMINO ACIDS IN A KINDRED WITH HEREDITARY PANCREATITIS AND AMINOACIDURIA. 61 56
14184345 1964
50
Hereditary pancreatitis. Description of a fifth kindred and summary of clinical features. 61 56
13902224 1962
Sources

Variations for Pancreatitis, Hereditary

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ClinVar genetic disease variations for Pancreatitis, Hereditary:

6 (show top 50) (show all 334) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRSS2 NM_002770.4(PRSS2):c.571G>A (p.Gly191Arg)SNV protective 8070 rs61734659 7:142481892-142481892 7:142774035-142774035
2 CFTR NM_000492.3(CFTR):c.3718-2477C>TSNV Pathogenic 7166 rs75039782 7:117280015-117280015 7:117639961-117639961
3 CTRC NM_007272.3(CTRC):c.164G>A (p.Trp55Ter)SNV Pathogenic,risk factor 8180 rs121909294 1:15767020-15767020 1:15440524-15440524
4 PRSS1 NM_002769.5(PRSS1):c.365G>A (p.Arg122His)SNV Pathogenic 11876 rs111033565 7:142459789-142459789 7:142751938-142751938
5 PRSS1 PRSS1, 3-BP DELdeletion Pathogenic 11879
6 CFTR NM_000492.3(CFTR):c.1521_1523delCTT (p.Phe508delPhe)deletion Pathogenic 7105 rs113993960 7:117199645-117199647 7:117559591-117559593
7 CFTR NM_000492.4(CFTR):c.350G>A (p.Arg117His)SNV Pathogenic 7109 rs78655421 7:117171029-117171029 7:117530975-117530975
8 CFTR NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)SNV Pathogenic 7111 rs74551128 7:117188849-117188849 7:117548795-117548795
9 CFTR NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)SNV Pathogenic 7115 rs113993959 7:117227832-117227832 7:117587778-117587778
10 CFTR NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)SNV Pathogenic,drug response 40190 rs121909005 7:117227855-117227855 7:117587801-117587801
11 CFTR NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)SNV Pathogenic 7120 rs75527207 7:117227860-117227860 7:117587806-117587806
12 CFTR NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)SNV Pathogenic 7122 rs74597325 7:117227865-117227865 7:117587811-117587811
13 CFTR NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)SNV Pathogenic 7129 rs77010898 7:117282620-117282620 7:117642566-117642566
14 CFTR NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)SNV Pathogenic 7139 rs121909011 7:117180284-117180284 7:117540230-117540230
15 CFTR NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)SNV Pathogenic 7144 rs79850223 7:117267579-117267579 7:117627525-117627525
16 CFTR NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe)SNV Pathogenic 7155 rs121909017 7:117199600-117199600 7:117559546-117559546
17 CTRC NC_000001.10:g.(?_15764902)_(15773084_?)deldeletion Pathogenic 832871 1:15764902-15773084
18 SPINK1 NC_000005.10:g.(?_147824661)_(147831792_?)deldeletion Pathogenic 830855 5:147204224-147211355
19 SPINK1 NM_003122.4(SPINK1):c.2T>C (p.Met1Thr)SNV Pathogenic 13761 rs104893938 5:147211139-147211139 5:147831576-147831576
20 SPINK1 SPINK1, -215G-A, PROMOTERSNV Pathogenic 13762
21 SPINK1 NM_003122.4(SPINK1):c.41T>C (p.Leu14Pro)SNV Pathogenic 13764 rs104893939 5:147211100-147211100 5:147831537-147831537
22 SPINK1 NM_003122.4(SPINK1):c.41T>G (p.Leu14Arg)SNV Pathogenic 13765 rs104893939 5:147211100-147211100 5:147831537-147831537
23 CFTR NM_000492.3(CFTR):c.2988+1G>ASNV Pathogenic 7224 rs75096551 7:117246808-117246808 7:117606754-117606754
24 PRSS1 NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His)indel Pathogenic 11882 rs267606982 7:142459789-142459790 7:142751938-142751939
25 PRSS1 NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys)SNV Pathogenic 11883 rs111033568 7:142459788-142459788 7:142751937-142751937
26 PRSS1 PRSS1, TRIPLICATIONundetermined variant Pathogenic 11884
27 SPINK1 SPINK1, 1.3-KB DELdeletion Pathogenic 13766
28 SPINK1 NM_003122.4(SPINK1):c.27del (p.Ser10fs)deletion Pathogenic 36780 rs193922659 5:147211114-147211114 5:147831551-147831551
29 PRSS1 NM_002769.5(PRSS1):c.116T>C (p.Val39Ala)SNV Pathogenic 38361 rs397507439 7:142458481-142458481 7:142750630-142750630
30 PRSS1 NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)SNV Pathogenic 38362 rs397507440 7:142459839-142459839 7:142751988-142751988
31 CFTR NM_000492.4(CFTR):c.489+1G>TSNV Pathogenic 38799 rs78756941 7:117171169-117171169 7:117531115-117531115
32 CFTR NM_000492.4(CFTR):c.2657+5G>ASNV Pathogenic 38497 rs80224560 7:117242922-117242922 7:117602868-117602868
33 CFTR NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)SNV Pathogenic 38728 rs121908761 7:117251771-117251771 7:117611717-117611717
34 CFTR NM_000492.3(CFTR):c.178G>T (p.Glu60Ter)SNV Pathogenic 38730 rs77284892 7:117149101-117149101 7:117509047-117509047
35 CFTR NM_000492.3(CFTR):c.274-1G>ASNV Pathogenic 48680 rs121908792 7:117170952-117170952 7:117530898-117530898
36 CFTR NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)SNV Pathogenic 48688 rs77834169 7:117171028-117171028 7:117530974-117530974
37 CFTR NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)SNV Pathogenic,drug response 48692 rs80282562 7:117174372-117174372 7:117534318-117534318
38 CFTR NM_000492.3(CFTR):c.595C>T (p.His199Tyr)SNV Pathogenic 54018 rs121908802 7:117175317-117175317 7:117535263-117535263
39 CFTR NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)SNV Pathogenic 54036 rs397508778 7:117175380-117175380 7:117535326-117535326
40 CFTR NM_000492.3(CFTR):c.54-5940_273+10250deldeletion Pathogenic 66105 7:117138367-117159446 7:117498313-117519392
41 SPINK1 NM_003122.4(SPINK1):c.150T>G (p.Asp50Glu)SNV Pathogenic 132143 rs515726206 5:147207629-147207629 5:147828066-147828066
42 SPINK1 NM_003122.4(SPINK1):c.160T>C (p.Tyr54His)SNV Pathogenic 132144 rs515726207 5:147207619-147207619 5:147828056-147828056
43 PRSS1 NM_002769.5(PRSS1):c.63_71dup (p.Asp22_Ile24dup)duplication Pathogenic 38364 rs397507441 7:142458427-142458428 7:142750576-142750577
44 PRSS1 NM_002769.5(PRSS1):c.65A>G (p.Asp22Gly)SNV Pathogenic 38365 rs397507442 7:142458430-142458430 7:142750579-142750579
45 CFTR NM_000492.3(CFTR):c.3963-78_4242+577deldeletion Pathogenic 132148
46 CTRC NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del)deletion Pathogenic 132150 rs515726210 1:15772183-15772206 1:15445688-15445711
47 PRSS1 NP_002760.1(PRSS1):p.Cys139Serprotein only Pathogenic 132152
48 CFTR NM_000492.3(CFTR):c.577G>T (p.Glu193Ter)SNV Pathogenic 54007 rs397508759 7:117174417-117174417 7:117534363-117534363
49 CFTR NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)SNV Pathogenic,drug response 53797 rs267606723 7:117282505-117282505 7:117642451-117642451
50 CFTR NM_000492.3(CFTR):c.293A>G (p.Gln98Arg)SNV Pathogenic 53606 rs397508464 7:117170972-117170972 7:117530918-117530918

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

73 (show all 25)
# Symbol AA change Variation ID SNP ID
1 CTRC p.Ala73Thr VAR_043520 rs515726209
2 CTRC p.Gly217Arg VAR_043522 rs202058123
3 CTRC p.Gly217Ser VAR_043523 rs202058123
4 CTRC p.Val235Ile VAR_043527 rs140993290
5 CTRC p.Pro249Leu VAR_043528 rs142560329
6 CTRC p.Arg254Trp VAR_043529 rs121909293
7 CTRC p.Gly32Val VAR_070522
8 CTRC p.Cys155Tyr VAR_070526
9 CTRC p.Gln178Arg VAR_070528 rs200678111
10 CTRC p.Val250Glu VAR_070538
11 PRSS1 p.Asn29Ile VAR_006720 rs111033566
12 PRSS1 p.Arg122His VAR_006721 rs267606982
13 PRSS1 p.Asp22Gly VAR_011652 rs397507442
14 PRSS1 p.Lys23Arg VAR_011653 rs111033567
15 PRSS1 p.Leu104Pro VAR_011654 rs155449909
16 PRSS1 p.Arg116Cys VAR_011655 rs387906698
17 PRSS1 p.Cys139Phe VAR_011656
18 PRSS1 p.Ala16Val VAR_011693 rs202003805
19 PRSS1 p.Asn29Thr VAR_012712 rs111033566
20 PRSS1 p.Arg122Cys VAR_012713 rs111033568
21 PRSS1 p.Asn54Ser VAR_037908 rs144422014
22 PRSS1 p.Glu79Lys VAR_037909 rs111033564
23 SPINK1 p.Leu14Pro VAR_011688 rs104893939
24 SPINK1 p.Asn34Ser VAR_011689 rs17107315
25 SPINK1 p.Leu12Phe VAR_032011 rs35877720

Copy number variations for Pancreatitis, Hereditary from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 220875 7 141580825 141583339 Copy number Chronic pancreatitis
Sources

Expression for Pancreatitis, Hereditary

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

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Pathways related to Pancreatitis, Hereditary according to KEGG:

36
# Name Kegg Source Accession
1 Pancreatic secretion hsa04972
2 Protein digestion and absorption hsa04974
3 Gastric acid secretion hsa04971
4 Bile secretion hsa04976

Pathways related to Pancreatitis, Hereditary according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
MicroRNAs in cancer 36
11.81 MIR199B MIR199A2 MIR199A1 MIR195 MIR128-2 MIR126
2
Pancreatic secretion 36
11.51 PRSS2 PRSS1 CFTR
3
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 11.46 MIR199A2 MIR199A1 MIR125B2 MIR125B1
4
Parkinsons Disease Pathway 1
11.26 MIR409 MIR195 MIR128-2
5
Cobalamin (Cbl, vitamin B12) transport and metabolism 65
10.69 PRSS1 CTRC
Sources

GO Terms for Pancreatitis, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.5 SPINK1 PRSS2 PRSS1 MIR409 MIR339 MIR199B
2 extracellular vesicle GO:1903561 9.35 MIR198 MIR126 MIR125B2 MIR125B1 MIR125A

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

(show all 41)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.91 MIR126 MIR199A1 MIR199A2 MIR199B
2 positive regulation of angiogenesis GO:0045766 9.89 MIR126 MIR199A1 MIR199A2 MIR199B
3 negative regulation of angiogenesis GO:0016525 9.85 MIR125A MIR125B1 MIR125B2
4 positive regulation of endothelial cell migration GO:0010595 9.79 MIR199A1 MIR199A2 MIR199B
5 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.77 MIR199A1 MIR199A2 MIR199B
6 positive regulation of cardiac muscle cell proliferation GO:0060045 9.76 MIR199A1 MIR199A2 MIR199B
7 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.75 MIR199A1 MIR199A2 MIR199B
8 regulation of angiogenesis GO:0045765 9.74 MIR199A1 MIR199A2 MIR199B
9 negative regulation of cardiac muscle cell proliferation GO:0060044 9.72 MIR199A1 MIR199A2 MIR199B
10 negative regulation of vascular endothelial growth factor signaling pathway GO:1900747 9.71 MIR199A1 MIR199A2 MIR199B
11 cell growth involved in cardiac muscle cell development GO:0061049 9.7 MIR195 MIR199A1 MIR199A2
12 positive regulation of connective tissue replacement GO:1905205 9.69 MIR195 MIR199A1 MIR199A2
13 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.68 MIR10B MIR126
14 sperm capacitation GO:0048240 9.68 CFTR SPINK1
15 cobalamin metabolic process GO:0009235 9.68 CTRC PRSS1
16 negative regulation of nitric oxide biosynthetic process GO:0045019 9.67 MIR199A1 MIR199A2
17 cellular response to interleukin-6 GO:0071354 9.67 MIR125B1 MIR125B2
18 positive regulation of glial cell proliferation GO:0060252 9.67 MIR125B1 MIR125B2
19 negative regulation of cell growth involved in cardiac muscle cell development GO:0061052 9.67 MIR199A1 MIR199A2 MIR199B
20 negative regulation of keratinocyte proliferation GO:0010839 9.66 MIR125B1 MIR125B2
21 negative regulation of interleukin-6 biosynthetic process GO:0045409 9.66 MIR125A MIR195
22 positive regulation of keratinocyte differentiation GO:0045618 9.65 MIR125B1 MIR125B2
23 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.65 MIR199A1 MIR199A2
24 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.65 MIR199A1 MIR199A2
25 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 9.65 MIR125A MIR125B1 MIR125B2
26 cellular response to vitamin D GO:0071305 9.64 MIR125B1 MIR125B2
27 negative regulation of receptor internalization GO:0002091 9.64 MIR199A1 MIR199A2
28 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.63 MIR199A1 MIR199A2
29 negative regulation of monocyte differentiation GO:0045656 9.63 MIR125B1 MIR125B2
30 negative regulation of matrix metallopeptidase secretion GO:1904465 9.63 MIR199B MIR199A2 MIR199A1
31 positive regulation of vascular smooth muscle cell differentiation GO:1905065 9.62 MIR125B1 MIR125B2
32 regulation of cardiac muscle cell proliferation GO:0060043 9.62 MIR199A1 MIR199A2
33 negative regulation of metallopeptidase activity GO:1905049 9.61 MIR199B MIR199A2 MIR199A1
34 negative regulation of STAT cascade GO:1904893 9.58 MIR125B2 MIR125B1 MIR125A
35 positive regulation of lung blood pressure GO:0061766 9.56 MIR199A1 MIR199A2
36 re-entry into mitotic cell cycle GO:0000320 9.54 MIR199B MIR199A2 MIR199A1
37 positive regulation of cardiac muscle tissue regeneration GO:1905180 9.5 MIR199B MIR199A2 MIR199A1
38 gene silencing by miRNA GO:0035195 9.5 MIR409 MIR383 MIR339 MIR199B MIR199A2 MIR199A1
39 regulation of connective tissue replacement GO:1905203 9.43 MIR199B MIR199A2 MIR199A1
40 negative regulation of vascular endothelial growth factor production GO:1904046 9.35 MIR199B MIR199A2 MIR199A1 MIR195 MIR125A
41 negative regulation of hepatocyte growth factor production GO:0032686 9.33 MIR199B MIR199A2 MIR199A1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.44 MIR409 MIR383 MIR199B MIR199A2 MIR199A1 MIR198
Sources

Sources for Pancreatitis, Hereditary

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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