PCTT
MCID: PNC108
MIFTS: 58

Pancreatitis, Hereditary (PCTT) malady

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

Aliases & Classifications for Pancreatitis, Hereditary

Aliases & Descriptions for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 54 66 13
Hereditary Pancreatitis 50 24 25 29 69
Hereditary Chronic Pancreatitis 50 25 56
Chronic Pancreatitis 24 66 52
Autosomal Dominant Hereditary Pancreatitis 25 69
Pancreatitis, Chronic, Protection Against 54 24
Pancreatitis, Chronic, Susceptibility to 24 29
Pancreatitis, Chronic 54 69
Pctt 24 66
Hp 25 66
Pancreatitis, Idiopathic 54
Pancreatitis Hereditary 52
Pancreatitis, Calcific 69
Calcific Pancreatitis 24
Familial Pancreatitis 25
Hps 3
Hpc 66
Cp 66

Characteristics:

Orphanet epidemiological data:

56
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:

32
pancreatitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 167800
Orphanet 56 ORPHA676
UMLS via Orphanet 70 C0341474
ICD10 via Orphanet 34 K86.1
MeSH 42 D010195

Summaries for Pancreatitis, Hereditary

NIH Rare Diseases : 50 hereditary pancreatitis is a rare genetic condition that causes multiple episodes of pancreatitis. the first episode of pancreatitis usually occurs in late childhood. signs and symptoms may include stomach pain, fever, nausea, or vomiting. episodes often lasts from one to three days, but may be longer. repeat episodes of pancreatitis leads to chronic pancreatitis (a constantly inflamed pancreas), calcium deposits in the pancreas, and over years, pancreas scarring. at this stage signs and symptoms may include fatty stool, weight loss, and protein and vitamin deficiencies. people with hereditary pancreatitis are also at an increased risk for type 1 diabetes and pancreatic cancer, typically in adulthood. in most cases, hereditary pancreatitis is caused by mutations in the prss1 gene and passed through families in an autosomal dominant pattern. while there is not a cure for hereditary pancreatitis, treatments are available (visit the pancreas foundation to learn more about treatment). with treatment people with hereditary pancreatitis tend to have a normal life expectancy.  last updated: 1/20/2016

MalaCards based summary : Pancreatitis, Hereditary, also known as hereditary pancreatitis, is related to gastritis and prss1-related hereditary pancreatitis, and has symptoms including abdominal pain, diabetes mellitus and pancreatic calcification. An important gene associated with Pancreatitis, Hereditary is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways/superpathways are Defensins and Matrix Metalloproteinases. The drugs Pancrelipase and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related phenotype is homeostasis/metabolism.

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

CDC : 3 Infection with hantavirus can progress to Hantavirus Pulmonary Syndrome (HPS), which can be fatal. People become infected through contact with hantavirus-infected rodents or their urine and droppings. The Sin Nombre hantavirus, first recognized in 1993, is one of several New World hantaviruses circulating in the US. Old World hantaviruses, including Seoul virus, are found across the world and can cause Hemorrhagic Fever with Renal Syndrome (HFRS). Rodent control in and around the home remains the primary strategy for preventing hantavirus infection. All cases of Hantavirus infection are reported to the CDC.

UniProtKB/Swiss-Prot : 66 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.

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

Description from OMIM: 167800

Related Diseases for Pancreatitis, Hereditary

Diseases in the Pancreatitis family:

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

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

(show top 50) (show all 96)
id Related Disease Score Top Affiliating Genes
1 gastritis 29.8 PRSS1 PRSS2
2 prss1-related hereditary pancreatitis 11.9
3 hantavirus pulmonary syndrome 11.9
4 cftr-related hereditary pancreatitis 11.8
5 ctrc-related hereditary pancreatitis 11.8
6 spink1-related hereditary pancreatitis 11.8
7 pancreatic cancer 11.7
8 aceruloplasminemia 11.7
9 hermansky-pudlak syndrome 2 11.5
10 cerebral palsy 11.4
11 hermansky-pudlak syndrome 1 11.4
12 hermansky-pudlak syndrome 11.3
13 hermansky-pudlak syndrome 7 11.3
14 hermansky-pudlak syndrome 6 11.3
15 hermansky-pudlak syndrome 5 11.3
16 hermansky-pudlak syndrome 9 11.3
17 hermansky-pudlak syndrome 8 11.3
18 hermansky-pudlak syndrome 4 11.3
19 hermansky-pudlak syndrome 3 11.3
20 carbamoylphosphate synthetase i deficiency 11.1
21 central pain syndrome 11.0
22 liver disease 11.0
23 hemangiopericytoma, malignant 10.9
24 tropical calcific pancreatitis 10.8
25 yorifuji okuno syndrome 10.7
26 ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss 10.7
27 hemophagocytic lymphohistiocytosis 10.7
28 hermansky-pudlak syndrome without pulmonary fibrosis 10.7
29 hermansky-pudlak syndrome with pulmonary fibrosis 10.7
30 extrinsic allergic alveolitis 10.7
31 hemiparkinsonism-hemiatrophy syndrome 10.7
32 cavernous sinus thrombosis 10.3 PRSS1 SPINK1
33 deafness, autosomal dominant 44 10.3 PRSS1 PRSS3
34 lethal hydranencephaly-diaphragmatic hernia syndrome 10.3 ADH1B ADH1C
35 tricuspid valve insufficiency 10.3 CCK PRSS1 SCT
36 gastrointestinal neuroendocrine benign tumor 10.2 CCK SCT
37 autosomal dominant intermediate charcot-marie-tooth 10.2 CFTR PRSS1
38 fibrosis of extraocular muscles, congenital, 3c 10.2 CFTR PNLIP SCT SPINK1
39 intracranial berry aneurysm 10.2 PRSS1 PRSS3
40 hyperkeratosis lenticularis perstans 10.2 BLOC1S3 BLOC1S6
41 primary congenital glaucoma 10.2 CFTR CTRC PRSS1 PRSS2 SPINK1
42 female stress incontinence 10.2 CCK CFTR PNLIP SCT
43 myxofibrosarcoma 10.2 CFTR CTRC PRSS1 SCT SPINK1
44 acute gonococcal cervicitis 10.2 CCK PNLIP PRSS1 SCT
45 short bowel syndrome 10.2 CCK CFTR PNLIP SCT
46 retinitis pigmentosa 29 10.2 ADH1B ADH1C
47 cervical adenomyoma 10.2 ADH1B CCK CFTR PRSS1 SPINK1
48 diastrophic dysplasia 10.1 CTRC PRSS1 PRSS2 REG1A SPINK1
49 leukorrhea 10.1 BLOC1S3 BLOC1S6 DTNBP1
50 chondroma 10.1 CCK PRSS1 REG3A SCT SPINK1

Comorbidity relations with Pancreatitis, Hereditary via Phenotypic Disease Network (PDN): (show all 18)


Active Peptic Ulcer Disease Acute Cystitis
Acute Pancreatitis Alcohol Abuse
Cholangitis Cholestasis
Chronic Kidney Failure Chronic Myocardial Ischemia
Chylomicron Retention Disease Deficiency Anemia
Esophagitis Heart Disease
Hypertension, Essential Intestinal Obstruction
Ischemic Heart Disease 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

Symptoms by clinical synopsis from OMIM:

167800

Clinical features from OMIM:

167800

Human phenotypes related to Pancreatitis, Hereditary:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 56 32 Very frequent (99-80%) HP:0002027
2 diabetes mellitus 56 32 Occasional (29-5%) HP:0000819
3 pancreatic calcification 56 32 Occasional (29-5%) HP:0005213
4 fever 32 HP:0001945
5 abnormal thrombosis 32 HP:0001977
6 jaundice 56 Occasional (29-5%)
7 exocrine pancreatic insufficiency 32 HP:0001738
8 pancreatitis 32 HP:0001733
9 leukocytosis 56 Very frequent (99-80%)
10 elevated c-reactive protein level 56 Very frequent (99-80%)
11 pleural effusion 32 HP:0002202
12 steatorrhea 32 HP:0002570
13 recurrent pancreatitis 56 Very frequent (99-80%)
14 abnormal enzyme/coenzyme activity 56 Frequent (79-30%)
15 splanchnic vein thrombosis 56 Occasional (29-5%)
16 pancreatic pseudocyst 32 HP:0005206

MGI Mouse Phenotypes related to Pancreatitis, Hereditary:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 CFTR DTNBP1 ELANE PNLIP REG1A REG3A

Drugs & Therapeutics for Pancreatitis, Hereditary

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

(show top 50) (show all 190)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Pancrelipase Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 53608-75-6
2
Dexmedetomidine Approved, Vet_approved Phase 4 76631-46-4, 113775-47-6 68602 5311068 56032
3
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
4
Octreotide Approved, Investigational Phase 4 83150-76-9 383414 6400441
5
Somatostatin Approved Phase 4 38916-34-6, 51110-01-1 53481605
6
Etanercept Approved, Investigational Phase 4 185243-69-0
7
Glycerol Approved, Experimental Phase 4 56-81-5 753
8
Indomethacin Approved, Investigational Phase 4 53-86-1 3715
9
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
10
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
11 pancreatin Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
12 Micronutrients Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
13 Trace Elements Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
14 Vitamins Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1
15 Gastrointestinal Agents Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
16 Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
17 Hormones Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
18 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1
19 Hypoglycemic Agents Phase 4,Phase 2
20 insulin Phase 4,Phase 2
21 Insulin, Globin Zinc Phase 4,Phase 2
22 Protective Agents Phase 4,Phase 2,Phase 3
23 Bone Density Conservation Agents Phase 4
24 Ergocalciferols Phase 4
25 vitamin d Phase 4
26 Adrenergic Agents Phase 4
27 Adrenergic Agonists Phase 4
28 Adrenergic alpha-2 Receptor Agonists Phase 4
29 Adrenergic alpha-Agonists Phase 4
30 Analgesics Phase 4,Phase 2,Phase 3
31 Analgesics, Non-Narcotic Phase 4,Phase 2
32 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
33 Hypnotics and Sedatives Phase 4,Phase 2
34 Neurotransmitter Agents Phase 4,Phase 2,Phase 1
35 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
36 Dipeptidyl-Peptidase IV Inhibitors Phase 4
37 HIV Protease Inhibitors Phase 4,Phase 1,Phase 2
38 Incretins Phase 4,Phase 2
39
protease inhibitors Phase 4,Phase 1,Phase 2
40 Sitagliptin Phosphate Phase 4
41 Antineoplastic Agents, Hormonal Phase 4
42 Anti-Inflammatory Agents Phase 4,Phase 3
43 Antirheumatic Agents Phase 4,Phase 1,Phase 2
44 Immunosuppressive Agents Phase 4,Phase 3,Phase 2
45 Alpha 1-Antitrypsin Phase 4,Phase 1,Phase 2
46 Anti-Inflammatory Agents, Non-Steroidal Phase 4
47 Protein C Phase 4,Phase 1,Phase 2
48 Protein C Inhibitor Phase 4,Phase 1,Phase 2
49 Serine Proteinase Inhibitors Phase 4,Phase 1,Phase 2
50 Trypsin Inhibitors Phase 4,Phase 1,Phase 2

Interventional clinical trials:

(show top 50) (show all 171)
id Name Status NCT ID Phase
1 Evaluation of the Digestive and Metabolic Utilisation of Dietary Protein in Patients With Chronic Pancreatitis Completed NCT00957151 Phase 4
2 Prospective Study of Efficacy of Intra-muscular Vitamin D3 in Tropical Calcific Pancreatitis Completed NCT00956839 Phase 4
3 Enzyme Suppletion in Exocrine Pancreatic Dysfunction Completed NCT01430234 Phase 4
4 Prospective Study of Celiac Block Injection: 1 vs. 2 Completed NCT00583479 Phase 4
5 Dexmedetomidine Versus Placebo in Endoscopic Retrograde Cholangiopancreatography (ERCP) Sedation Completed NCT01070680 Phase 4
6 Sitagliptin Therapy to Improve Outcomes After Islet Autotransplant Completed NCT01186562 Phase 4
7 Somatostatin, Octreotide, Pentoxyfilline in the Prevention of Post-ERCP Pancreatitis and Molecular Markers Completed NCT00222092 Phase 4
8 WallFlex Biliary Fully Covered (FC) Chronic Pancreatitis Study Recruiting NCT01543256 Phase 4
9 Anti-inflammatory Therapy to Improve Outcomes After TPIAT Recruiting NCT02713997 Phase 4
10 Early Oral Versus Enteral Nutrition After Pancreatoduodenectomy Recruiting NCT01642875 Phase 4
11 Rectal Indomethacin to Prevent Post ESWL-pancreatitis Recruiting NCT02797067 Phase 4
12 Intraduodenal Aspiration Study to Assess the Bioavailability of Oral Pancrecarb® Compared to Placebo Control Terminated NCT00744250 Phase 4
13 EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic Pancreatitis Unknown status NCT00142233 Phase 2, Phase 3
14 Role of Antioxidants Supplementation in Chronic Pancreatitis Completed NCT00319358 Phase 3
15 Pain and Chronic Pancreatitis - Clinical End Experimental Studies Completed NCT00755573 Phase 2, Phase 3
16 Efficacy of EUS-guided Celiac Plexus Blockade in Chronic Pancreatitis Completed NCT00658736 Phase 3
17 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
18 A 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) Completed NCT00788593 Phase 3
19 A Open-label Study to Assess the Safety of Oral Long-term Use of SA-001 in Pancreatic Exocrine Insufficiency Completed NCT00401076 Phase 3
20 Creon 40,000 for Treatment of PEI (Pancreatic Exocrine Insufficiency) Due to Chronic Pancreatitis Completed NCT00705978 Phase 3
21 A Study of SA-001 to Treat Pancreatic Exocrine Insufficiency Completed NCT00400842 Phase 3
22 Safety and Efficacy Study of Viokase® 16 for the Correction of Steatorrhea Completed NCT00559364 Phase 3
23 Safety and Efficacy of Synthetic Human Secretin-Enhanced MRCP in Subjects With Abnormalities of the Pancreas Completed NCT00660335 Phase 3
24 Nonstented Stump-closed vs Duct-to-Mucosa Pancreaticojejunostomy After Pancreaticoduodenectomy Completed NCT01731821 Phase 3
25 Study 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
26 Prospective Study on Endoscopic Ultrasound (EUS) Celiac Bloc Efficacy in Chronic Pancreatitis Recruiting NCT01318590 Phase 3
27 EUS-guided CGN for Inoperable Cancer Recruiting NCT02356640 Phase 2, Phase 3
28 Efficacy and Safety of Reparixin in Pancreatic Islet Auto-transplantation Active, not recruiting NCT01967888 Phase 2, Phase 3
29 WallFlex Biliary Fully Covered (FC) Benign Stricture Study Active, not recruiting NCT01014390 Phase 3
30 Pentoxifylline Treatment in Acute Pancreatitis (AP) Enrolling by invitation NCT02487225 Phase 3
31 Phase III ALTU-135 CP Safety Trial Terminated NCT00500084 Phase 3
32 The Effect of Pancreatic Polypeptide on Insulin Requirements for Type 1 & Post-pancreatectomy Diabetic Patients Unknown status NCT00791076 Phase 2
33 A Pilot Study of Use of Calcium Channel Blocker to Decrease Inflammation and Pain in Hereditary Pancreatitis Completed NCT00156403 Phase 1, Phase 2
34 Secretin Infusion for Pain Due to Chronic Pancreatitis Completed NCT01265875 Phase 1, Phase 2
35 Chronic Pancreatitis. Effect of Pioglitazone on Endocrine Function, Exocrine Function & Structure, Pain & Life Quality Completed NCT00782795 Phase 2
36 Δ9-THC (Namisol®) in Chronic Pancreatitis Patients Suffering From Persistent Abdominal Pain Completed NCT01551511 Phase 2
37 TMS Treatment for Pain in Chronic Pancreatitis Completed NCT00250484 Phase 2
38 BreathID® Test: A Non-invasive Modality to Detect Pancreatic Exocrine Insufficiency Completed NCT01259544 Phase 2
39 Comparison of Extracorporeal Shock Wave Lithotripsy (ESWL) Alone and ESWL Plus Endoscopy for Painful Chronic Pancreatitis Completed NCT00133835 Phase 1, Phase 2
40 Efficacy Study of Δ9-THC to Treat Chronic Abdominal Pain Completed NCT01318369 Phase 2
41 An Open-Label Study to Evaluate the Intraduodenal Delivery of Enzymes From Administration of VIOKASE16 in Exocrine Pancreatic Insufficiency (EPI) Completed NCT00559052 Phase 2
42 Rituximab in IgG4-related Disease: A Phase 1-2 Trial Completed NCT01584388 Phase 1, Phase 2
43 Liraglutide to Improve corONary Haemodynamics During Exercise streSS Completed NCT02315001 Phase 2
44 Fat Malabsorption in Chronic Pancreatitis Recruiting NCT02849704 Phase 2
45 Alpha-1 Antitrypsin (AAT) Enhances Islet Autograft Survival in Patients With Chronic Pancreatitis Recruiting NCT02947087 Phase 1, Phase 2
46 Pancreatic Perfusion Using Secretin and MRI Recruiting NCT02458118 Phase 1, Phase 2
47 Simvastatin in Reducing Pancreatitis in Patients With Recurrent, Acute or Chronic Pancreatitis Recruiting NCT02743364 Phase 2
48 A Dose Ranging Study Evaluating Efficacy and Safety of NI-03 Recruiting NCT02693093 Phase 1, Phase 2
49 Activity and Risk Profile of Ponatinib in Chronic Phase Patients With Chronic Myeloid Leukemia Resistant to Imatinib Recruiting NCT02398825 Phase 2
50 Safety And Efficacy Of Tanezumab In Patients With Chronic Pancreatitis Terminated NCT01146561 Phase 2

Search NIH Clinical Center for Pancreatitis, Hereditary

Genetic Tests for Pancreatitis, Hereditary

Genetic tests related to Pancreatitis, Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Pancreatitis 29 24 SPINK1
2 Pancreatitis, Chronic, Susceptibility to 29
3 Chronic Pancreatitis 29
4 Pancreatitis, Chronic, Protection Against 24 PRSS2

Anatomical Context for Pancreatitis, Hereditary

MalaCards organs/tissues related to Pancreatitis, Hereditary:

39
Pancreas

Publications for Pancreatitis, Hereditary

Articles related to Pancreatitis, Hereditary:

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

Variations for Pancreatitis, Hereditary

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

66 (show all 25)
id Symbol AA change Variation ID SNP ID
1 CTRC p.Ala73Thr VAR_043520 rs515726209
2 CTRC p.Gly217Arg VAR_043522
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
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

ClinVar genetic disease variations for Pancreatitis, Hereditary:

6 (show top 50) (show all 87)
id Gene Variation Type Significance SNP ID Assembly Location
1 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
2 CFTR NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh37 Chromosome 7, 117199644: 117199646
3 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
4 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
5 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
6 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
7 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh37 Chromosome 7, 117227883: 117227883
8 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh37 Chromosome 7, 117282620: 117282620
9 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh37 Chromosome 7, 117180305: 117180306
10 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs121908744 GRCh37 Chromosome 7, 117180232: 117180232
11 CFTR NM_000492.3: c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
12 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic rs79282516 GRCh37 Chromosome 7, 117199563: 117199563
13 CFTR NM_000492.3(CFTR): c.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh37 Chromosome 7, 117188683: 117188689
14 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
15 CFTR NM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro) single nucleotide variant Pathogenic rs121909036 GRCh37 Chromosome 7, 117251689: 117251689
16 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh37 Chromosome 7, 117250575: 117250575
17 CFTR NM_000492.3(CFTR): c.19G> T (p.Glu7Ter) single nucleotide variant Pathogenic rs121909045 GRCh37 Chromosome 7, 117120167: 117120167
18 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh37 Chromosome 1, 15772212: 15772212
19 CTRC NM_007272.2(CTRC): c.164G> A (p.Trp55Ter) single nucleotide variant Pathogenic,risk factor rs121909294 GRCh37 Chromosome 1, 15767020: 15767020
20 PRSS1 NM_002769.4(PRSS1): c.365G> A (p.Arg122His) single nucleotide variant Pathogenic rs111033565 GRCh37 Chromosome 7, 142459789: 142459789
21 PRSS1 NM_002769.4(PRSS1): c.86A> T (p.Asn29Ile) single nucleotide variant Pathogenic rs111033566 GRCh37 Chromosome 7, 142458451: 142458451
22 PRSS1 NM_002769.4(PRSS1): c.68A> G (p.Lys23Arg) single nucleotide variant Pathogenic rs111033567 GRCh37 Chromosome 7, 142458433: 142458433
23 PRSS1 PRSS1, 3-BP DEL deletion Pathogenic
24 PRSS1 NM_002769.4(PRSS1): c.235G> A (p.Glu79Lys) single nucleotide variant Pathogenic rs111033564 GRCh37 Chromosome 7, 142459659: 142459659
25 PRSS1 NM_002769.4(PRSS1): c.161A> G (p.Asn54Ser) single nucleotide variant Pathogenic rs144422014 GRCh37 Chromosome 7, 142458526: 142458526
26 PRSS1 NM_002769.4(PRSS1): c.365_366delGCinsAT (p.Arg122His) indel Pathogenic rs267606982 GRCh37 Chromosome 7, 142459789: 142459790
27 PRSS1 NM_002769.4(PRSS1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs111033568 GRCh37 Chromosome 7, 142459788: 142459788
28 PRSS1 PRSS1, TRIPLICATION undetermined variant Pathogenic
29 SPINK1 NM_003122.4(SPINK1): c.101A> G (p.Asn34Ser) single nucleotide variant risk factor rs17107315 GRCh37 Chromosome 5, 147207678: 147207678
30 SPINK1 NM_003122.4(SPINK1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104893938 GRCh37 Chromosome 5, 147211139: 147211139
31 SPINK1 SPINK1, -215G-A single nucleotide variant Pathogenic
32 SPINK1 NM_003122.4(SPINK1): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs104893939 GRCh37 Chromosome 5, 147211100: 147211100
33 SPINK1 NM_003122.4(SPINK1): c.41T> G (p.Leu14Arg) single nucleotide variant Pathogenic rs104893939 GRCh37 Chromosome 5, 147211100: 147211100
34 SPINK1 SPINK1, 1.3-KB DEL deletion Pathogenic
35 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh37 Chromosome 7, 117246808: 117246808
36 PRSS1 NM_002769.4(PRSS1): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs387906698 GRCh37 Chromosome 7, 142459770: 142459770
37 CFTR NM_000492.3(CFTR): c.1865G> A (p.Gly622Asp) single nucleotide variant Pathogenic rs121908759 GRCh37 Chromosome 7, 117232086: 117232086
38 CFTR NM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs) indel Pathogenic rs121908799 GRCh37 Chromosome 7, 117232272: 117232273
39 CFTR NM_000492.3(CFTR): c.2052dupA (p.Gln685Thrfs) duplication Pathogenic rs121908786 GRCh37 Chromosome 7, 117232273: 117232273
40 CFTR NM_000492.3(CFTR): c.2988G> A (p.Gln996=) single nucleotide variant Pathogenic rs121908797 GRCh37 Chromosome 7, 117246807: 117246807
41 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
42 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
43 PRSS1 NM_002769.4(PRSS1): c.389C> T (p.Thr130Ile) single nucleotide variant Likely pathogenic rs193922655 GRCh37 Chromosome 7, 142459813: 142459813
44 PRSS1 NM_002769.4(PRSS1): c.398C> G (p.Pro133Arg) single nucleotide variant Likely pathogenic rs193922656 GRCh37 Chromosome 7, 142459822: 142459822
45 SPINK1 NM_003122.4(SPINK1): c.27delC (p.Ser10Valfs) deletion Pathogenic rs193922659 GRCh37 Chromosome 5, 147211114: 147211114
46 CFTR NM_000492.3(CFTR): c.3067_3072delATAGTG (p.Ile1023_Val1024del) deletion Pathogenic rs121908767 GRCh37 Chromosome 7, 117250651: 117250656
47 PRSS1 NM_002769.4(PRSS1): c.116T> C (p.Val39Ala) single nucleotide variant Pathogenic rs397507439 GRCh37 Chromosome 7, 142458481: 142458481
48 PRSS1 NM_002769.4(PRSS1): c.415T> A (p.Cys139Ser) single nucleotide variant Pathogenic rs397507440 GRCh37 Chromosome 7, 142459839: 142459839
49 PRSS1 NM_002769.4(PRSS1): c.47C> T (p.Ala16Val) single nucleotide variant Pathogenic rs202003805 GRCh37 Chromosome 7, 142458412: 142458412
50 PRSS1 NM_002769.4(PRSS1): c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle) duplication Pathogenic rs397507441 GRCh37 Chromosome 7, 142458428: 142458436

Copy number variations for Pancreatitis, Hereditary from CNVD:

7
id CNVD ID Chromosom 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

GO Terms for Pancreatitis, Hereditary

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

id Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.81 CCK CPA1 ELANE PRSS1 PRSS2 PRSS3
2 extracellular region GO:0005576 9.7 CCK CPA1 CTRC ELANE PNLIP PRSS1
3 axon cytoplasm GO:1904115 9.43 BLOC1S3 BLOC1S6 DTNBP1
4 BLOC-1 complex GO:0031083 8.8 BLOC1S3 BLOC1S6 DTNBP1

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

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.88 CPA1 CTRC ELANE PRSS1 PRSS2 PRSS3
2 neuron projection development GO:0031175 9.7 BLOC1S3 BLOC1S6 DTNBP1
3 extracellular matrix disassembly GO:0022617 9.65 ELANE PRSS1 PRSS2
4 digestion GO:0007586 9.61 PRSS1 PRSS2 PRSS3
5 melanosome transport GO:0032402 9.51 BLOC1S3 BLOC1S6
6 anterograde axonal transport GO:0008089 9.5 BLOC1S3 BLOC1S6 DTNBP1
7 ethanol oxidation GO:0006069 9.49 ADH1B ADH1C
8 endosome to melanosome transport GO:0035646 9.46 BLOC1S3 BLOC1S6
9 cobalamin metabolic process GO:0009235 9.43 CTRC PRSS1 PRSS3
10 platelet dense granule organization GO:0060155 9.37 BLOC1S3 DTNBP1
11 melanosome organization GO:0032438 9.33 BLOC1S3 BLOC1S6 DTNBP1
12 anterograde synaptic vesicle transport GO:0048490 9.13 BLOC1S3 BLOC1S6 DTNBP1
13 antimicrobial humoral response GO:0019730 8.92 ELANE PRSS2 PRSS3 REG3A

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.92 CFTR CPA1 CTRC ELANE PNLIP PRSS1
2 peptidase activity GO:0008233 9.63 CPA1 CTRC ELANE PRSS1 PRSS2 PRSS3
3 serine-type endopeptidase activity GO:0004252 9.35 CTRC ELANE PRSS1 PRSS2 PRSS3
4 alcohol dehydrogenase activity, zinc-dependent GO:0004024 9.26 ADH1B ADH1C
5 serine-type peptidase activity GO:0008236 9.02 CTRC ELANE PRSS1 PRSS2 PRSS3

Sources for Pancreatitis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
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48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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