PCTT
MCID: PNC108
MIFTS: 70

Pancreatitis, Hereditary (PCTT)

Categories: Bone diseases, Cancer diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Infectious diseases, Rare diseases
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Aliases & Classifications for Pancreatitis, Hereditary

MalaCards integrated aliases for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 57 75 73 12
Hereditary Pancreatitis 19 42 75 28 5 71
Chronic Pancreatitis 73 28 53 5 16 33
Hereditary Chronic Pancreatitis 19 42 58 33
Pancreatitis, Chronic, Susceptibility to 57 28 5
Hp 57 42 73
Autosomal Dominant Hereditary Pancreatitis 42 71
Pancreatitis, Chronic, Protection Against 57 5
Pancreatitis, Chronic 57 71
Pctt 57 73
Hpc 57 73
Pancreatitis Hereditary 53
Familial Pancreatitis 42
Cp 73

Characteristics:


Inheritance:

Pancreatitis, Hereditary: Autosomal dominant 57
Hereditary Chronic Pancreatitis: Autosomal dominant 58

Prevelance:

Hereditary Chronic Pancreatitis: 1-9/1000000 (France, Denmark, Europe) 58

Age Of Onset:

Hereditary Chronic Pancreatitis: Adolescent,Childhood 58

Classifications:

Orphanet: 58  
Rare gastroenterological diseases
Rare endocrine diseases


External Ids:

OMIM® 57 167800
MeSH 43 D010195
ICD10 via Orphanet 32 K86.1
UMLS via Orphanet 72 C0238339 C0341474
Orphanet 58 ORPHA676
UMLS 71 C0149521 C0238339 C4080064

Summaries for Pancreatitis, Hereditary

MedlinePlus Genetics: 42 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 tropical calcific pancreatitis and prss1-related hereditary pancreatitis. An important gene associated with Pancreatitis, Hereditary is PRSS1 (Serine Protease 1), and among its related pathways/superpathways are MicroRNAs in cardiomyocyte hypertrophy and miRNAs involvement in the immune response in sepsis. The drugs Etanercept and Protein C have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone marrow and pancreatic islet, and related phenotypes are abdominal pain and leukocytosis

GARD: 19 Hereditary pancreatitis causes multiple episodes of inflammation of the pancreas (pancreatitis), an important digestive organ. Symptoms usually begin in childhood and may last a few days or longer. Signs and symptoms may include stomach pain, nausea, or vomiting. People with Hereditary pancreatitis develop chronic pancreatitis, a constantly inflamed pancreas. This leads to symptoms which may include fatty stools, weight loss, and poor absorption of nutrients from food. Adults with Hereditary pancreatitis are at an increased risk for type 1 diabetes and pancreatic cancer. In most cases, Hereditary pancreatitis is due to a PRSS1 gene that is not working correctly and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, a clinical history and exam, and the results of genetic testing.

Orphanet: 58 A rare gastroenterologic disease characterized by recurrent acute pancreatitis and/or chronic pancreatitis in at least 2 first-degree relatives, or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. This rare inherited form of pancreatitis leads to irreversible damage to both exocrine and endocrine components of the pancreas.

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

Wikipedia: 75 Hereditary pancreatitis (HP) is an inflammation of the pancreas due to genetic causes. It was first... more...

More information from OMIM: 167800

Related Diseases for Pancreatitis, Hereditary

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 721)
# Related Disease Score Top Affiliating Genes
1 tropical calcific pancreatitis 33.1 SPINK1 PRSS1 CTRC
2 prss1-related hereditary pancreatitis 31.7 TRB SPINK1 PRSS2 PRSS1 LOC113664106 LOC113633877
3 bile duct cysts 30.9 SPINK1 PRSS1 CTRC
4 biliary dyskinesia 30.9 SPINK1 PRSS1 CFTR
5 pancreas, annular 30.9 SPINK1 PRSS1 CTRC
6 duodenal atresia 30.9 CFTR-AS1 CFTR
7 gastrointestinal system disease 30.8 MIR195 MIR126 MIR125B1 MIR125A MIR10B
8 duodenal obstruction 30.6 SPINK1 PRSS1
9 exocrine pancreatic insufficiency 30.6 SPINK1 PRSS1 CFTR
10 pancreas disease 30.5 SPINK1 MIR195 MIR126 MIR125B1 MIR125A MIR10B
11 vas deferens, congenital bilateral aplasia of 30.5 SPINK1 LOC111674472 CFTR
12 alcoholic pancreatitis 30.5 SPINK1 PRSS1 CTRC CFTR
13 gallbladder disease 30.5 MIR125B1 MIR125A CFTR
14 autoimmune pancreatitis 30.4 SPINK1 PRSS1 CFTR
15 cystic fibrosis 30.3 SPINK1 PRSS1 LOC113664106 LOC113633877 LOC111674477 LOC111674475
16 malignant astrocytoma 30.2 MIR126 MIR125B1 MIR125A MIR10B
17 linitis plastica 30.2 PRSS2 PRSS1
18 acute pancreatitis 30.1 SPINK1 PRSS1 CTRC CFTR
19 pancreatic cancer 30.1 SPINK1 PRSS1 MIR128-2 MIR126 MIR125B1 MIR125A
20 stomach disease 30.1 MIR195 MIR126 MIR125B1 MIR125A MIR10B
21 pancreatitis 30.0 SPINK1 PRSS2 PRSS1 CTRC CPA1 CFTR
22 disease of mental health 29.9 MIR195 MIR126 MIR125B1 MIR125A
23 arteries, anomalies of 29.9 MIR195 MIR126 MIR125B1 MIR125A
24 inherited metabolic disorder 29.9 MIR195 MIR126 MIR125B1 MIR125A
25 head and neck cancer 29.8 MIR195 MIR126 MIR125A MIR10B
26 bone cancer 29.8 MIR195 MIR126 MIR125B1 MIR125A MIR10B
27 endocrine gland cancer 29.8 MIR195 MIR126 MIR125B1 MIR125A MIR10B
28 intestinal disease 29.8 MIR195 MIR126 MIR125B1 MIR125A MIR10B
29 cardiovascular system disease 29.6 MIR195 MIR126 MIR125B1 MIR125A
30 solitary fibrous tumor/hemangiopericytoma 11.0
31 hypobetalipoproteinemia, familial, 2 11.0
32 nutritional deficiency disease 10.7
33 portal hypertension 10.7
34 liver cirrhosis 10.6
35 chronic pain 10.6
36 paine syndrome 10.6
37 varicose veins 10.5
38 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.5
39 cholangitis, primary sclerosing 10.5
40 sclerosing cholangitis 10.5
41 sjogren syndrome 10.5
42 gastroparesis 10.5
43 type 1 diabetes mellitus 10.4
44 trypsinogen deficiency 10.4 TRB PRSS1
45 diarrhea 10.4
46 alcoholic liver cirrhosis 10.4
47 type 2 diabetes mellitus 10.4
48 duodenal ulcer 10.4
49 peptic ulcer disease 10.4
50 porokeratosis 2, palmar, plantar, and disseminated type 10.4

Comorbidity relations with Pancreatitis, Hereditary via Phenotypic Disease Network (PDN): (show all 16)


Active Peptic Ulcer Disease Acute Cystitis
Acute Pancreatitis Alcohol Use Disorder
Cholangitis Cholestasis
Chronic Kidney Disease 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

Symptoms & Phenotypes for Pancreatitis, Hereditary

Human phenotypes related to Pancreatitis, Hereditary:

58 30 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0002027
2 leukocytosis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001974
3 recurrent pancreatitis 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0100027
4 elevated circulating c-reactive protein concentration 30 Hallmark (90%) HP:0011227
5 abnormal enzyme/coenzyme activity 58 30 Frequent (33%) Frequent (79-30%)
HP:0012379
6 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
7 jaundice 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000952
8 pancreatic calcification 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0005213
9 splanchnic vein thrombosis 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0030247
10 fever 30 HP:0001945
11 exocrine pancreatic insufficiency 30 HP:0001738
12 steatorrhea 30 HP:0002570
13 pleural effusion 30 HP:0002202
14 elevated c-reactive protein level 58 Very frequent (99-80%)
15 pancreatitis 30 HP:0001733
16 abnormal thrombosis 30 HP:0001977
17 pancreatic pseudocyst 30 HP:0005206

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
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 (Updated 08-Dec-2022)

Drugs & Therapeutics for Pancreatitis, Hereditary

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

(show top 50) (show all 158)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etanercept Approved, Investigational Phase 4 185243-69-0
2
Protein C Approved Phase 4
3
Cholecalciferol Approved, Nutraceutical, Vet_approved Phase 4 67-97-0, 1406-16-2 5280795 10883523
4
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
5 Hormones Phase 4
6 Calcium, Dietary Phase 4
7 Vitamins Phase 4
8 Trace Elements Phase 4
9 Micronutrients Phase 4
10 Calciferol Phase 4
11
Vitamin D2 Phase 4 3249
12 Ergocalciferols Phase 4
13 Alpha 1-Antitrypsin Phase 4
14 HIV Protease Inhibitors Phase 4
15 Trypsin Inhibitors Phase 4
16 Serine Proteinase Inhibitors Phase 4
17 Protein C Inhibitor Phase 4
18
protease inhibitors Phase 4
19
Calcium Nutraceutical Phase 4 7440-70-2 271
20
Serine Investigational, Nutraceutical Phase 4 56-45-1 5951
21
Simvastatin Approved Phase 3 79902-63-9 54454
22
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
23
Selenium Approved, Investigational, Vet_approved Phase 3 7783-07-5, 7782-49-2 533
24
Tocopherol Approved, Investigational Phase 3 1406-66-2
25
Pregabalin Approved, Investigational Phase 2, Phase 3 148553-50-8 5486971
26
Esomeprazole Approved, Investigational, Vet_approved Phase 3 73590-58-6, 119141-88-7 9568614 4594
27
Adenosine Approved, Investigational Phase 3 58-61-7 60961
28
Pentoxifylline Approved, Investigational Phase 3 6493-05-6 4740
29
Bupivacaine Approved, Investigational Phase 3 2180-92-9, 38396-39-3 2474
30
Triamcinolone Approved, Vet_approved Phase 3 124-94-7 31307
31
Cefazolin Approved Phase 3 25953-19-9 33255
32
DL-alpha-Tocopherol Approved, Experimental, Investigational, Nutraceutical, Vet_approved Phase 3 59-02-9, 10191-41-0 2116 14985
33
Ascorbic acid Approved, Nutraceutical Phase 3 50-81-7 54676860 54670067 5785
34
Aspartic acid Approved, Nutraceutical Phase 3 56-84-8 5960
35
Racemethionine Approved, Experimental, Investigational, Nutraceutical Phase 3 59-51-8, 63-68-3, 348-67-4 6137
36
Beta carotene Approved, Nutraceutical Phase 3 6811-73-0, 7235-40-7 10256668 5280489
37
Tocotrienol Investigational Phase 3 6829-55-6 9929901
38 Antimetabolites Phase 3
39 Hypolipidemic Agents Phase 3
40 Anticholesteremic Agents Phase 3
41 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 3
42 Lipid Regulating Agents Phase 3
43 Vasodilator Agents Phase 3
44 calcium channel blockers Phase 2, Phase 3
45 Neurotransmitter Agents Phase 3
46 N-Methylaspartate Phase 3
47 Antioxidants Phase 3
48 Tocotrienols Phase 3
49 Tocopherols Phase 3
50 Anti-Anxiety Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 190)
# Name Status NCT ID Phase Drugs
1 Early Oral Versus Enteral Nutrition After Pancreatoduodenectomy for Periampullary Tumors: a Prospective, Randomized, Controlled Clinical Trial Unknown status NCT01642875 Phase 4
2 Evaluation of the Digestive and Metabolic Utilisation of Dietary Protein in Patients With Chronic Pancreatitis Completed NCT00957151 Phase 4 Creon
3 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 Completed NCT01543256 Phase 4
4 A Prospective Study of Celiac Block Technique: One Injection or Two? Completed NCT00583479 Phase 4
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 Double-blind Randomized Study to Determine the Efficacy of Intramuscular Vitamin D3 Supplementation in Tropical Calcific Pancreatitis Completed NCT00956839 Phase 4 Vitamin D3 (Cholecalciferol)
7 A Phase 4 Study to Assess Symptoms of Exocrine Pancreatic Insufficiency in Subjects With Cystic Fibrosis or Chronic Pancreatitis Treated With Creon® (Pancrelipase) With an Alternate Source of Active Pharmaceutical Ingredient Recruiting NCT05069597 Phase 4 CREON
8 Anti-inflammatory Therapy to Improve Outcomes in Patients With Chronic Pancreatitis Undergoing Total Pancreatectomy Islet Autotransplantation Active, not recruiting NCT02713997 Phase 4 etanercept;Alpha 1-Antitrypsin
9 Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo Control in Patients With Pancreatic Insufficiency Terminated NCT00744250 Phase 4 Pancrelipase
10 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 Withdrawn NCT04315311 Phase 4 CREON
11 Simvastatin in the Prevention of Recurrent Pancreatitis, a Triple Blind, Randomized Controlled Trial Unknown status NCT04021498 Phase 3 Simvastatin 40mg
12 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
13 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;Placebo
14 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
15 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
16 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
17 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
18 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
19 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
20 Effect of Antioxidant Supplementation on Pain, Antioxidant Profile and Oxidative Stress in Patients With Chronic Pancreatitis Completed NCT00319358 Phase 3
21 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
22 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
23 Pentoxifylline Treatment in Acute Pancreatitis: A Double-Blind Placebo - Controlled Randomized Trial Completed NCT02487225 Phase 3 Pentoxifylline;Placebo
24 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
25 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
26 Prospective Study on Endoscopic Ultrasound (EUS) Celiac Bloc Efficacy in Chronic Pancreatitis Terminated NCT01318590 Phase 3 EUS procedure with drug injection
27 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
28 Hereditary Pancreatitis Amlodipine Trial(H-PAT): A Pilot Study Completed NCT00156403 Phase 1, Phase 2 amlodipine (drug)
29 An Open-Label Cross-over Study to Evaluate the Intraduodenal Delivery of Lipase, Protease and Amylase From Administration of VIOKASE16 in Chronic Pancreatitis Subjects With Exocrine Pancreatic Insufficiency (EPI). Completed NCT00559052 Phase 2 VIOKASE 16
30 A Phase 1, Single Dose PK and Safety Study With NI-03 Followed by a Phase 2, Randomized, Double-Blind, Parallel-Group Dose-Ranging Study to Evaluate the Safety and Efficacy of NI-03 When Compared to Placebo in Subjects With Chronic Pancreatitis Completed NCT02693093 Phase 1, Phase 2 NI-03;Placebo
31 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
32 Comparison of ESWL Alone and ESWL Combined With Endoscopic Drainage of the Main Pancreatic Duct for Painful Chronic Pancreatitis Completed NCT00133835 Phase 1, Phase 2
33 Secretin Infusion for Pain Due to Chronic Pancreatitis Completed NCT01265875 Phase 1, Phase 2 Human Secretin
34 The Safety, Tolerability, and Analgesic Efficacy of Δ9-THC (Namisol®) in Chronic Pancreatitis Patients Suffering From Persistent Abdominal Pain Completed NCT01318369 Phase 2 Namisol;Diazepam
35 Δ9-THC (Namisol®) in Chronic Pancreatitis Patients Suffering From Persistent Abdominal Pain: a Randomized, Double-blinded, Placebo-controlled, Parallel Design Completed NCT01551511 Phase 2 Tetrahydrocannabinol;Placebo
36 A Multicentre Open-label Phase IIa Study With Escalating Dose of MS1819- SD, to Investigate the Efficacy and Safety of a Yarrowia Lipolytica Lipase Preparation for the Compensation of Exocrine Pancreatic Insufficiency Caused by Chronic Pancreatitis and/or Distal Pancreatectomy Completed NCT03481803 Phase 2 MS1819-SD
37 Diagnosing Pancreatic-Based Malabsorption in Patients With Chronic Pancreatitis Completed NCT02849704 Phase 2 Creon36™
38 Hydroxychloroquine and Metabolic Outcomes in Patients Undergoing Total Pancreatectomy and Autologous Islet Transplantation: A Clinical, Molecular, and Genomic Study Completed NCT03283566 Phase 2 Hydroxychloroquine;Placebo
39 A Novel Approach to Harvest Islets for Autologous Islet Transplantation Completed NCT02567240 Phase 1, Phase 2
40 BreathID® Test: A Non-invasive Modality to Detect Pancreatic Exocrine Insufficiency Completed NCT01259544 Phase 2 benzoyl-L-tyrosyl-[1-13C]alanine (Bz-Tyr-Ala)
41 A Phase 1/2 Trial to Test the Safety of a CCK Receptor Antagonist, Proglumide, in Management of Chronic Pancreatitis Symptoms and Pain for 12 to 24 Months Recruiting NCT05551858 Phase 1, Phase 2 Proglumide;Placebo
42 Phase 1/2 Trial of Indomethacin in Chronic Pancreatitis (The PAIR Trial) Recruiting NCT04207060 Phase 2 Indomethacin;Placebos
43 Alpha-1 Antitrypsin (AAT) Enhances Islet Autograft Survival Active, not recruiting NCT02947087 Phase 1, Phase 2 Prolastin-C;Placebo
44 Total Pancreatectomy With Islet Cell Autotransplantation in Patients With Benign Pancreatic Neoplasms: A Pilot Study Not yet recruiting NCT05453851 Phase 1, Phase 2
45 A Phase II, Open-Label, Single Center Pilot Study to Determine the Safety and Efficacy of THALOMID (Thalidomide) in Patients With Chronic Pancreatitis. Terminated NCT00469703 Phase 2 Thalidomide
46 A Multi-center, Single-blind, Parallel-design, Randomized, Placebo-controlled, Dose-ranging Study to Evaluate Oral Recombinant Microbial Lipase Efficacy in Patients With Pancreatic Exocrine Insufficiency Due to Chronic Pancreatitis Terminated NCT00630279 Phase 2 Placebo;Recombinant Microbial Lipase SLV339
47 Randomized, Double-blind, Placebo-controlled Study of the Effect of a Single Injection of SAR164877 (REGN475) on Reduction of Pain From Chronic Pancreatitis Terminated NCT01001923 Phase 2 REGN475/SAR164877;Placebo (for REGN475/SAR164877)
48 A PHASE 2, RANDOMIZED, DOUBLE-BLIND, PLACEBO-CONTROLLED, MULTICENTER STUDY OF THE ANALGESIC EFFICACY AND SAFETY OF TANEZUMAB IN PATIENTS WITH CHRONIC PANCREATITIS Terminated NCT01146561 Phase 2
49 A Single-Center Prospective Randomized Placebo Controlled Trial of Pancreatic Enzyme Supplements (Pancrelipase) for Treating Pain in Patients With Chronic Pancreatitis Withdrawn NCT02706236 Phase 2 Pancrelipase;placebo
50 A Phase I Study Evaluating Safety and Tolerability of Autologous Bone Marrow-derived Mesenchymal Stromal Cells in Chronic Pancreatitis Patients Who Undergo Total Pancreatectomy and Islet Autotransplantation. Completed NCT02384018 Phase 1

Search NIH Clinical Center for Pancreatitis, Hereditary

Genetic Tests for Pancreatitis, Hereditary

Genetic tests related to Pancreatitis, Hereditary:

# Genetic test Affiliating Genes
1 Hereditary Pancreatitis 28 CFTR CTRC PRSS1 PRSS2 SPINK1
2 Chronic Pancreatitis 28
3 Pancreatitis, Chronic, Susceptibility to 28

Anatomical Context for Pancreatitis, Hereditary

Organs/tissues related to Pancreatitis, Hereditary:

MalaCards : Pancreas, Bone Marrow, Pancreatic Islet, Liver, Spinal Cord, Bone, Spleen
ODiseA: Respiratory System-Lung, Respiratory System

Publications for Pancreatitis, Hereditary

Articles related to Pancreatitis, Hereditary:

(show top 50) (show all 16230)
# Title Authors PMID Year
1
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. 53 62 57 5
17274009 2007
2
Contribution of the CFTR gene, the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cationic trypsinogen gene (PRSS1) to the etiology of recurrent pancreatitis. 53 62 57 5
17489851 2007
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. 53 62 57 5
11938439 2002
4
Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis. 53 62 57 5
10835640 2000
5
Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis. 53 62 57 5
10204851 1999
6
Association of rare chymotrypsinogen C (CTRC) gene variations in patients with idiopathic chronic pancreatitis. 62 57 5
18172691 2008
7
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis. 62 57 5
18059268 2008
8
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. 62 57 5
10691414 2000
9
Heterogeneity in hereditary pancreatitis. 62 57 5
9557894 1998
10
Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis. 62 57 5
9322498 1997
11
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene. 62 57 5
8841182 1996
12
Hereditary chronic relapsing pancreatitis. A clue to pancreatitis in general? 57 5
6023921 1967
13
Association and differential role of PRSS1 and SPINK1 mutation in early-onset and late-onset idiopathic chronic pancreatitis in Chinese subjects. 53 62 5
19433603 2009
14
Minigene analysis of intronic variants in common SPINK1 haplotypes associated with chronic pancreatitis. 53 62 5
18978175 2009
15
The natural history of hereditary pancreatitis: a national series. 53 62 5
18755888 2009
16
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. 53 62 5
18511571 2008
17
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. 53 62 5
18461367 2008
18
Pathways to injury in chronic pancreatitis: decoding the role of the high-risk SPINK1 N34S haplotype using meta-analysis. 53 62 5
18414673 2008
19
Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. 53 62 5
18272034 2008
20
Missense mutations in pancreatic secretory trypsin inhibitor (SPINK1) cause intracellular retention and degradation. 53 62 5
17525091 2007
21
Co-inheritance of a novel deletion of the entire SPINK1 gene with a CFTR missense mutation (L997F) in a family with chronic pancreatitis. 53 62 5
17681820 2007
22
Spectrum of mutations and variants/haplotypes of CFTR and genotype-phenotype correlation in idiopathic chronic pancreatitis and controls in Chinese by complete analysis. 53 62 57
17539902 2007
23
Hereditary chronic pancreatitis. 53 62 5
17204147 2007
24
Hereditary pancreatitis caused by triplication of the trypsinogen locus. 53 62 5
17072318 2006
25
Detection of a large genomic deletion in the pancreatic secretory trypsin inhibitor (SPINK1) gene. 53 62 5
16823394 2006
26
Identification of CFTR, PRSS1, and SPINK1 mutations in 381 patients with pancreatitis. 53 62 5
17003641 2006
27
Analysis of CFTR, SPINK1, PRSS1 and AAT mutations in children with acute or chronic pancreatitis. 53 62 5
16954950 2006
28
Biochemical models of hereditary pancreatitis. 53 62 5
16632094 2006
29
A degradation-sensitive anionic trypsinogen (PRSS2) variant protects against chronic pancreatitis. 53 62 5
16699518 2006
30
Mutation analysis of SPINK1 and CFTR gene in Korean patients with alcoholic chronic pancreatitis. 53 62 5
16187186 2005
31
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl. 53 62 5
15776435 2005
32
A Thai family with hereditary pancreatitis and increased cancer risk due to a mutation in PRSS1 gene. 53 62 5
15786540 2005
33
Mutations in the serine protease inhibitor Kazal Type 1 (SPINK1) gene in Japanese patients with pancreatitis. 53 62 5
15980664 2005
34
Genetic evidence for CFTR dysfunction in Japanese: background for chronic pancreatitis. 53 62 5
15121783 2004
35
Two novel severe mutations in the pancreatic secretory trypsin inhibitor gene (SPINK1) cause familial and/or hereditary pancreatitis. 53 62 5
14722925 2004
36
Interaction between trypsinogen isoforms in genetically determined pancreatitis: mutation E79K in cationic trypsin (PRSS1) causes increased transactivation of anionic trypsinogen (PRSS2). 53 62 5
14695529 2004
37
The course of genetically determined chronic pancreatitis. 53 62 5
12853682 2003
38
Hereditary pancreatitis. 53 62 5
12508340 2003
39
Mutational analysis of the pancreatic secretory trypsin inhibitor gene in familial and juvenile pancreatitis in Japan. 53 62 5
12743777 2003
40
Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis. 53 62 5
11950817 2002
41
Molecular pathology and evolutionary and physiological implications of pancreatitis-associated cationic trypsinogen mutations. 53 62 5
11702203 2001
42
Mutational screening of the cationic trypsinogen gene in a large cohort of subjects with idiopathic chronic pancreatitis. 53 62 5
11260229 2001
43
Analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene mutations in Japanese patients with chronic pancreatitis. 53 62 5
11355022 2001
44
SPINK1/PSTI polymorphisms act as disease modifiers in familial and idiopathic chronic pancreatitis. 53 62 5
10982753 2000
45
Mutations of the cystic fibrosis gene in patients with chronic pancreatitis. 53 62 57
9725921 1998
46
Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. 53 62 57
9725922 1998
47
Genetic Risk Factors in Early-Onset Nonalcoholic Chronic Pancreatitis: An Update. 62 5
34065437 2021
48
Mutation That Promotes Activation of Trypsinogen Increases Severity of Secretagogue-Induced Pancreatitis in Mice. 62 5
31751559 2020
49
Transgenic Expression of PRSS1R122H Sensitizes Mice to Pancreatitis. 62 5
31419436 2020
50
Meta-analysis of the impact of the SPINK1 c.194 + 2T > C variant in chronic pancreatitis. 62 5
31401021 2020

Variations for Pancreatitis, Hereditary

ClinVar genetic disease variations for Pancreatitis, Hereditary:

5 (show top 50) (show all 1695)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRB, PRSS2 NM_002770.4(PRSS2):c.571G>A (p.Gly191Arg) SNV Protective
8070 rs61734659 GRCh37: 7:142481892-142481892
GRCh38: 7:142774035-142774035
2 SPINK1 NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) SNV Conflicting Interpretations Of Pathogenicity; Association; Risk Factor
Uncertain Significance
13760 rs17107315 GRCh37: 5:147207678-147207678
GRCh38: 5:147828115-147828115
3 CTRC NM_007272.3(CTRC):c.760C>T (p.Arg254Trp) SNV Conflicting Interpretations Of Pathogenicity; Association
Risk Factor
8178 rs121909293 GRCh37: 1:15772212-15772212
GRCh38: 1:15445717-15445717
4 SPINK1 NM_001379610.1(SPINK1):c.56-37T>C SNV Benign; Risk Factor
239507 rs17107318 GRCh37: 5:147209230-147209230
GRCh38: 5:147829667-147829667
5 CTRC NM_007272.3(CTRC):c.738_761del (p.Lys247_Arg254del) DEL Pathogenic
Risk Factor
132150 rs515726210 GRCh37: 1:15772183-15772206
GRCh38: 1:15445688-15445711
6 CTRC NM_007272.3(CTRC):c.164G>A (p.Trp55Ter) SNV Pathogenic
Risk Factor
8180 rs121909294 GRCh37: 1:15767020-15767020
GRCh38: 1:15440524-15440524
7 SPINK1 NM_003122.5(SPINK1):c.-191-24G>A SNV Pathogenic
13762 rs191068215 GRCh37: 5:147211355-147211355
GRCh38: 5:147831792-147831792
8 SPINK1 NM_001379610.1(SPINK1):c.27del (p.Ser10fs) DEL Pathogenic
36780 rs193922659 GRCh37: 5:147211114-147211114
GRCh38: 5:147831551-147831551
9 CFTR, CFTR-AS1 NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) DEL Pathogenic
Pathogenic
7105 rs113993960 GRCh37: 7:117199645-117199647
GRCh38: 7:117559591-117559593
10 TRB, PRSS1 NM_002769.5(PRSS1):c.364C>T (p.Arg122Cys) SNV Pathogenic
11883 rs111033568 GRCh37: 7:142459788-142459788
GRCh38: 7:142751937-142751937
11 TRB, PRSS1 NM_002769.5(PRSS1):c.365_366delinsAT (p.Arg122His) INDEL Pathogenic
11882 rs267606982 GRCh37: 7:142459789-142459790
GRCh38: 7:142751938-142751939
12 TRB, PRSS1 NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) SNV Pathogenic
Pathogenic
11877 rs111033566 GRCh37: 7:142458451-142458451
GRCh38: 7:142750600-142750600
13 TRB, PRSS1 NM_002769.5(PRSS1):c.365G>A (p.Arg122His) SNV Pathogenic
11876 rs111033565 GRCh37: 7:142459789-142459789
GRCh38: 7:142751938-142751938
14 CFTR, LOC111674475 NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg) SNV Pathogenic
38733 rs121908757 GRCh37: 7:117227853-117227853
GRCh38: 7:117587799-117587799
15 CFTR NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter) SNV Pathogenic
53550 rs121909034 GRCh37: 7:117243663-117243663
GRCh38: 7:117603609-117603609
16 TRB and overlap with 1 gene(s) NC_000007.13:g.(?_142457132)_(142460438_?)dup DUP Pathogenic
1458636 GRCh37: 7:142457132-142460438
GRCh38:
17 TRB, PRSS1 NM_002769.5(PRSS1):c.116T>C (p.Val39Ala) SNV Pathogenic
1454580 rs397507439 GRCh37: 7:142458481-142458481
GRCh38: 7:142750630-142750630
18 CFTR NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp) SNV Pathogenic
35881 rs193922525 GRCh37: 7:117304824-117304824
GRCh38: 7:117664770-117664770
19 SPINK1 NM_001379610.1(SPINK1):c.2T>C (p.Met1Thr) SNV Pathogenic
13761 rs104893938 GRCh37: 5:147211139-147211139
GRCh38: 5:147831576-147831576
20 SPINK1 NM_001379610.1(SPINK1):c.41T>C (p.Leu14Pro) SNV Pathogenic
13764 rs104893939 GRCh37: 5:147211100-147211100
GRCh38: 5:147831537-147831537
21 SPINK1 NM_001379610.1(SPINK1):c.41T>G (p.Leu14Arg) SNV Pathogenic
13765 rs104893939 GRCh37: 5:147211100-147211100
GRCh38: 5:147831537-147831537
22 SPINK1 SPINK1, 1.3-KB DEL DEL Pathogenic
13766 GRCh37:
GRCh38:
23 CFTR and overlap with 2 gene(s) NM_000492.3(CFTR):c.3963-78_4242+577del DEL Pathogenic
132148 GRCh37:
GRCh38: 7:117652853-117666141
24 PRSS1 NP_002760.1(PRSS1):p.Cys139Ser PROTEIN Pathogenic
132152 GRCh37:
GRCh38:
25 TRB, PRSS1 NC_000007.13:g.(?_142457330)_(142460424_?)dup DUP Pathogenic
267330 GRCh37: 7:142457330-142460424
GRCh38: 7:142749479-142752573
26 SPINK1 NM_001379610.1(SPINK1):c.87+1G>A SNV Pathogenic
547787 rs1554089895 GRCh37: 5:147209161-147209161
GRCh38: 5:147829598-147829598
27 SPINK1 NC_000005.10:g.(?_147824641)_(147831792_?)del DEL Pathogenic
583901 GRCh37: 5:147204204-147211355
GRCh38: 5:147824641-147831792
28 overlap with 10 genes NC_000001.10:g.(?_15764961)_(16063358_?)del DEL Pathogenic
584380 GRCh37: 1:15764961-16063358
GRCh38:
29 CTRC NM_007272.3(CTRC):c.490_491del (p.Trp164fs) DEL Pathogenic
1377904 GRCh37: 1:15770047-15770048
GRCh38: 1:15443552-15443553
30 SPINK1 NC_000005.10:g.(?_147824661)_(147831792_?)del DEL Pathogenic
830855 GRCh37: 5:147204224-147211355
GRCh38:
31 CTRC NC_000001.10:g.(?_15764902)_(15773084_?)del DEL Pathogenic
832871 GRCh37: 1:15764902-15773084
GRCh38:
32 overlap with 13 genes NC_000007.13:g.141443350_142460881dup DUP Pathogenic
973567 GRCh37: 7:141443350-142460881
GRCh38:
33 SPINK1 NC_000005.10:g.(?_147824655)_(147831583_?)del DEL Pathogenic
528778 GRCh37: 5:147204218-147211146
GRCh38: 5:147824655-147831583
34 CTRC NC_000001.10:g.(?_15764955)_(15773090_?)del DEL Pathogenic
528777 GRCh37: 1:15764955-15773090
GRCh38:
35 PRSS1 PRSS1, TRIPLICATION VAR Pathogenic
11884 GRCh37:
GRCh38:
36 CFTR NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser) SNV Pathogenic
53589 rs397508453 GRCh37: 7:117243836-117243836
GRCh38: 7:117603782-117603782
37 CFTR, LOC111674475 NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg) SNV Pathogenic
487375 rs121909005 GRCh37: 7:117227855-117227855
GRCh38: 7:117587801-117587801
38 CFTR NM_000492.4(CFTR):c.532G>C (p.Gly178Arg) SNV Pathogenic
1685614 GRCh37: 7:117174372-117174372
GRCh38: 7:117534318-117534318
39 CFTR, CFTR-AS1 NM_000492.4(CFTR):c.1227_1228del (p.Phe409fs) DEL Pathogenic
1685616 GRCh37: 7:117188712-117188713
GRCh38: 7:117548658-117548659
40 CFTR, CFTR-AS1 NM_000492.4(CFTR):c.1343_1350del (p.Ile448fs) DEL Pathogenic
1685617 GRCh37: 7:117188824-117188831
GRCh38: 7:117548770-117548777
41 CFTR, CFTR-AS1 NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs) DEL Pathogenic
1685618 rs1562898489 GRCh37: 7:117199671-117199672
GRCh38: 7:117559617-117559618
42 CFTR NM_000492.4(CFTR):c.1682C>T (p.Ala561Val) SNV Pathogenic
1685619 GRCh37: 7:117230409-117230409
GRCh38: 7:117590355-117590355
43 CFTR NM_000492.4(CFTR):c.2278dup (p.Thr760fs) DUP Pathogenic
1685620 GRCh37: 7:117232498-117232499
GRCh38: 7:117592444-117592445
44 CFTR NM_000492.4(CFTR):c.2988+2T>G SNV Pathogenic
1685621 GRCh37: 7:117246809-117246809
GRCh38: 7:117606755-117606755
45 CFTR, LOC111674472 NM_000492.4(CFTR):c.3301del (p.Gln1100_Met1101insTer) DEL Pathogenic
1685622 GRCh37: 7:117251794-117251794
GRCh38: 7:117611740-117611740
46 CFTR NM_000492.4(CFTR):c.3639dup (p.Asp1214fs) DUP Pathogenic
1685623 GRCh37: 7:117267743-117267744
GRCh38: 7:117627689-117627690
47 CFTR, CFTR-AS1 NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs) DEL Pathogenic
281173 rs3034796 GRCh37: 7:117188716-117188720
GRCh38: 7:117548662-117548666
48 TRB and overlap with 1 gene(s) NC_000007.13:g.(?_142457132)_(142457395_?)dup DUP Pathogenic
583681 GRCh37: 7:142457132-142457395
GRCh38: 7:142749281-142749544
49 SPINK1 NM_001379610.1(SPINK1):c.194+2T>C SNV Pathogenic
Pathogenic
Conflicting Interpretations Of Pathogenicity
132142 rs148954387 GRCh37: 5:147207583-147207583
GRCh38: 5:147828020-147828020
50 CFTR NM_000492.4(CFTR):c.349C>T (p.Arg117Cys) SNV Pathogenic
48688 rs77834169 GRCh37: 7:117171028-117171028
GRCh38: 7:117530974-117530974

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

73 (show all 24)
# 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 rs1554499091
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

Copy number variations for Pancreatitis, Hereditary from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 220875 7 141580825 141583339 Copy number Chronic pancreatitis

Expression for Pancreatitis, Hereditary

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

Pathways for Pancreatitis, Hereditary

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.3 MIR195 MIR125B2 MIR125B1
2 10.59 MIR126 MIR125B2 MIR125B1

GO Terms for Pancreatitis, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 RISC complex GO:0016442 9.47 MIR195 MIR128-2 MIR126 MIR125B2 MIR125B1 MIR125A

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

# Name GO ID Score Top Affiliating Genes
1 miRNA-mediated gene silencing GO:0035195 10 MIR195 MIR126 MIR125B2 MIR125B1 MIR125A MIR10B
2 miRNA-mediated gene silencing by inhibition of translation GO:0035278 9.33 MIR126 MIR125B1 MIR10B
3 negative regulation of vascular endothelial growth factor production GO:1904046 9.32 MIR195 MIR125A
4 negative regulation of receptor signaling pathway via STAT GO:1904893 8.96 MIR125B1 MIR125A
5 negative regulation of interleukin-6-mediated signaling pathway GO:0070104 8.62 MIR125B1 MIR125A

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

# Name GO ID Score Top Affiliating Genes
1 mRNA 3'-UTR binding GO:0003730 9.35 MIR195 MIR126 MIR125B1 MIR125A MIR10B
2 mRNA base-pairing translational repressor activity GO:1903231 9.02 MIR195 MIR126 MIR125B1 MIR125A MIR10B

Sources for Pancreatitis, Hereditary

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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