MCID: PNC108
MIFTS: 60

Pancreatitis, Hereditary

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

Aliases & Classifications for Pancreatitis, Hereditary

MalaCards integrated aliases for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 53 72 71 13
Hereditary Pancreatitis 72 49 24 36 28 69
Chronic Pancreatitis 71 36 28 51
Hereditary Chronic Pancreatitis 49 24 55
Hp 53 24 71
Autosomal Dominant Hereditary Pancreatitis 24 69
Pancreatitis, Chronic, Susceptibility to 53 28
Pancreatitis, Chronic 53 69
Pctt 53 71
Hpc 53 71
Pancreatitis, Chronic, Protection Against 53
Pancreatitis, Idiopathic 53
Pancreatitis Hereditary 51
Familial Pancreatitis 24
Hps 3
Cp 71

Characteristics:

Orphanet epidemiological data:

55
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:

53
Inheritance:
autosomal dominant


HPO:

31
pancreatitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pancreatitis, Hereditary

NIH Rare Diseases : 49 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 tropical calcific pancreatitis and recurrent acute pancreatitis, and has symptoms including abdominal pain, diabetes mellitus and jaundice. 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 Midazolam and Selenium have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related phenotype is homeostasis/metabolism.

UniProtKB/Swiss-Prot : 71 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.

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.

Genetics Home Reference : 24 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.

Wikipedia : 72 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
Autoimmune 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 164)
# Related Disease Score Top Affiliating Genes
1 tropical calcific pancreatitis 31.6 CTRC PRSS1 PRSS2 REG1A SPINK1
2 recurrent acute pancreatitis 30.0 CFTR CTRC LPL PRSS1 SCT SPINK1
3 pancreatic cancer 29.4 BRCA2 CCK MUC4 PRSS1 SCT SPINK1
4 acute pancreatitis 28.6 APOC2 CCK ELANE LPL PNLIP SCT
5 pancreatitis 27.1 APOC2 CASR CCK CFTR CPA1 CTRC
6 hantavirus pulmonary syndrome 12.0
7 prss1-related hereditary pancreatitis 12.0
8 aceruloplasminemia 11.9
9 cleft palate, isolated 11.8
10 extrinsic allergic alveolitis 11.6
11 hermansky-pudlak syndrome 11.5
12 cerebral palsy 11.5
13 hepatopulmonary syndrome 11.5
14 malaria 11.4
15 hemangiopericytoma, malignant 11.3
16 pulmonary tuberculosis 11.3
17 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.2
18 ceroid lipofuscinosis, neuronal, 3 11.2
19 trypanosomiasis 11.2
20 hermansky-pudlak syndrome 2 11.2
21 central pain syndrome 11.2
22 anhaptoglobinemia 11.1
23 van der woude syndrome 1 11.1
24 cerebral palsy, ataxic, autosomal recessive 11.1
25 wilson disease 11.1
26 liver disease 11.1
27 retinal degeneration 11.1
28 plasmodium falciparum malaria 11.0
29 hemochromatosis, type 1 11.0
30 menkes disease 11.0
31 asthma 11.0
32 deficiency anemia 11.0
33 diabetes mellitus 11.0
34 pneumoconiosis 11.0
35 hemosiderosis 11.0
36 hermansky-pudlak syndrome 1 11.0
37 hermansky-pudlak syndrome 5 11.0
38 crohn's disease 11.0
39 paroxysmal nocturnal hemoglobinuria 11.0
40 hellp syndrome 11.0
41 hemoglobinuria 11.0
42 hypochromic microcytic anemia 10.9
43 mastitis 10.9
44 chronic pyelonephritis 10.9
45 protein-energy malnutrition 10.9
46 nutmeg liver 10.9
47 boutonneuse fever 10.9
48 iron metabolism disease 10.9
49 periapical granuloma 10.9
50 fascioliasis 10.9

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 via clinical synopsis from OMIM:

53
Metabolic:
diabetes mellitus

Vascular:
portal or splenic vein thrombosis

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

GI:
pancreatitis
steatorrhea
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

Human phenotypes related to Pancreatitis, Hereditary:

55 31 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 55 31 hallmark (90%) Very frequent (99-80%) HP:0002027
2 diabetes mellitus 55 31 occasional (7.5%) Occasional (29-5%) HP:0000819
3 jaundice 55 31 occasional (7.5%) Occasional (29-5%) HP:0000952
4 leukocytosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0001974
5 elevated c-reactive protein level 55 31 hallmark (90%) Very frequent (99-80%) HP:0011227
6 pancreatic calcification 55 31 occasional (7.5%) Occasional (29-5%) HP:0005213
7 recurrent pancreatitis 55 31 hallmark (90%) Very frequent (99-80%) HP:0100027
8 abnormal enzyme/coenzyme activity 55 31 frequent (33%) Frequent (79-30%) HP:0012379
9 splanchnic vein thrombosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0030247
10 fever 31 HP:0001945
11 abnormal thrombosis 31 HP:0001977
12 exocrine pancreatic insufficiency 31 HP:0001738
13 pancreatitis 31 HP:0001733
14 pleural effusion 31 HP:0002202
15 steatorrhea 31 HP:0002570
16 pancreatic pseudocyst 31 HP:0005206

MGI Mouse Phenotypes related to Pancreatitis, Hereditary:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ADH1C APOC2 BRCA2 CASR CCK CFTR

Drugs & Therapeutics for Pancreatitis, Hereditary

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 2, Phase 3 59467-70-8 4192
2
Selenium Approved, Investigational, Vet_approved Phase 2, Phase 3 7782-49-2
3
B-Carotene Approved, Nutraceutical Phase 2, Phase 3 7235-40-7 5280489
4 Tocopherol Approved, Investigational, Nutraceutical Phase 2, Phase 3
5
Vitamin C Approved, Nutraceutical Phase 2, Phase 3 50-81-7 54670067 5785
6
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 59-02-9 14985
7 Antioxidants Phase 2, Phase 3
8 Carotenoids Phase 2, Phase 3
9 Micronutrients Phase 2, Phase 3
10 N-Methylaspartate Phase 2, Phase 3
11 Protective Agents Phase 2, Phase 3
12 Tocopherols Phase 2, Phase 3
13 Tocotrienols Phase 2, Phase 3
14 Trace Elements Phase 2, Phase 3
15 Vitamins Phase 2, Phase 3
16 Aspartic Acid Nutraceutical Phase 2, Phase 3
17 methionine Nutraceutical Phase 2, Phase 3
18 Tocotrienol Investigational, Nutraceutical Phase 2, Phase 3 6829-55-6
19
Amlodipine Approved Phase 1, Phase 2 88150-42-9 2162
20 Antihypertensive Agents Phase 1, Phase 2
21 calcium channel blockers Phase 1, Phase 2
22 Calcium, Dietary Phase 1, Phase 2
23 Vasodilator Agents Phase 1, Phase 2
24
Pancrelipase Approved, Investigational 53608-75-6
25
Secretin Approved, Investigational 108153-74-8
26 Gastrointestinal Agents
27 pancreatin
28 Hormone Antagonists
29 Hormones
30 Hormones, Hormone Substitutes, and Hormone Antagonists
31 serine Nutraceutical

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic Pancreatitis Unknown status NCT00142233 Phase 2, Phase 3 Magnesium (15 mmol/d);ANTOX (vers.) 1.2 (300 µg organic selenium, 54000 IU beta carotene, 750 mg vitamin C, 540 IU vitamin E, 2700 mg methionine)
2 A Pilot Study of Use of Calcium Channel Blocker to Decrease Inflammation and Pain in Hereditary Pancreatitis Completed NCT00156403 Phase 1, Phase 2 amlodipine (drug)
3 Genetic Linkage Study for Hereditary Pancreatitis Unknown status NCT00004475
4 Quality Control Study of MR Based Screening of Individual With Increased Risk for Pancreas Cancer. Recruiting NCT02078245
5 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
6 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
7 Pancreas Registry and High Risk Registry Recruiting NCT02775461
8 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632
9 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Enrolling by invitation NCT02703545

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 Pancreatitis, Chronic, Susceptibility to 28
3 Chronic Pancreatitis 28

Anatomical Context for Pancreatitis, Hereditary

MalaCards organs/tissues related to Pancreatitis, Hereditary:

38
Pancreas

Publications for Pancreatitis, Hereditary

Articles related to Pancreatitis, Hereditary:

(show top 50) (show all 200)
# Title Authors Year
1
Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis. ( 27129265 )
2016
2
Therapeutic step-up strategy for management of hereditary pancreatitis in children. ( 25840052 )
2015
3
Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study. ( 26376395 )
2015
4
Incidence of post-ERCP pancreatitis from direct pancreatic juice collection in hereditary pancreatitis and familial pancreatic cancer before and after the introduction of prophylactic pancreatic stents and rectal diclofenac. ( 25438071 )
2015
5
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. ( 24780743 )
2014
6
Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis. ( 25058887 )
2014
7
Endoscopic Therapy for Complete Pancreatic Ductal Obstruction in A Child With Hereditary Pancreatitis. ( 24590217 )
2014
8
Pancreatic cancer risk in hereditary pancreatitis. ( 24600409 )
2014
9
The histopathology of PRSS1 hereditary pancreatitis. ( 24525505 )
2014
10
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene. ( 24134754 )
2013
11
Hereditary pancreatitis for the endoscopist. ( 23503650 )
2013
12
Hereditary pancreatitis: endoscopic and surgical management. ( 23435738 )
2013
13
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. ( 23601753 )
2013
14
Hereditary Pancreatitis: Dilemmas in Differential Diagnosis and Therapeutic Approach. ( 24242859 )
2013
15
An overview of hereditary pancreatitis. ( 21907651 )
2012
16
ATM mutations in patients with hereditary pancreatic cancer. ( 22585167 )
2012
17
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. ( 22572128 )
2012
18
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. ( 22539344 )
2012
19
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. ( 21110969 )
2011
20
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. ( 21499207 )
2011
21
Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis. ( 19765677 )
2010
22
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. ( 20502448 )
2010
23
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations. ( 20452997 )
2010
24
Managing complications of hereditary pancreatitis: all roads lead to ERCP. ( 19834339 )
2010
25
Splenic pseudoaneurysm in a child with hereditary pancreatitis. ( 20386320 )
2010
26
Hereditary pancreatitis. ( 20697897 )
2010
27
Outcomes of interventional ERCP in hereditary pancreatitis. ( 19713862 )
2010
28
[Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain]. ( 19857283 )
2009
29
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. ( 19454815 )
2009
30
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. ( 19191323 )
2009
31
[Hereditary pancreatitis in a child]. ( 19686634 )
2009
32
The natural history of hereditary pancreatitis: a national series. ( 18755888 )
2009
33
Mortality rate and risk factors in patients with hereditary pancreatitis: uni- and multidimensional analyses. ( 19550412 )
2009
34
Hereditary pancreatitis in children: surgical implications with special regard to genetic background. ( 19944211 )
2009
35
Comments on hereditary pancreatitis. ( 19592702 )
2009
36
Hereditary pancreatitis model WBN/Kob rat strain has a unique haplotype in the Pdwk1 region on chromosome 7. ( 19654439 )
2009
37
Chronic hereditary pancreatitis in a girl with a serine protease inhibitor kazal type I (SPINK-1) gene mutation and a coxsackie type B5 infection. ( 19106771 )
2009
38
Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. ( 19690177 )
2009
39
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. ( 18511571 )
2008
40
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. ( 18461367 )
2008
41
Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. ( 18272034 )
2008
42
Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. ( 18184119 )
2008
43
Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany. ( 18702646 )
2008
44
[Three cases of hereditary pancreatitis in two households in the same family associated with R122H mutation in cationic trypsinogen gene]. ( 17641559 )
2007
45
Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis. ( 17613931 )
2007
46
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. ( 17274009 )
2007
47
Hereditary pancreatitis amlodipine trial: a pilot study of a calcium-channel blocker in hereditary pancreatitis. ( 18090235 )
2007
48
[A novel mutation of PRSS1 gene in a Chinese hereditary pancreatitis family]. ( 17855255 )
2007
49
A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen. ( 17087933 )
2006
50
Biochemical models of hereditary pancreatitis. ( 16632094 )
2006

Variations for Pancreatitis, Hereditary

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

71 (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
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 86)
# Gene Variation Type Significance SNP ID Assembly Location
1 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh37 Chromosome 1, 15772212: 15772212
2 CTRC NM_007272.2(CTRC): c.164G> A (p.Trp55Ter) single nucleotide variant Pathogenic,risk factor rs121909294 GRCh37 Chromosome 1, 15767020: 15767020
3 PRSS1 NM_002769.4(PRSS1): c.365G> A (p.Arg122His) single nucleotide variant Pathogenic rs111033565 GRCh37 Chromosome 7, 142459789: 142459789
4 PRSS1 NM_002769.4(PRSS1): c.86A> T (p.Asn29Ile) single nucleotide variant Pathogenic rs111033566 GRCh37 Chromosome 7, 142458451: 142458451
5 PRSS1 NM_002769.4(PRSS1): c.68A> G (p.Lys23Arg) single nucleotide variant Pathogenic rs111033567 GRCh37 Chromosome 7, 142458433: 142458433
6 PRSS1 PRSS1, 3-BP DEL deletion Pathogenic
7 PRSS1 NM_002769.4(PRSS1): c.161A> G (p.Asn54Ser) single nucleotide variant Pathogenic rs144422014 GRCh37 Chromosome 7, 142458526: 142458526
8 PRSS1 NM_002769.4(PRSS1): c.365_366delGCinsAT (p.Arg122His) indel Pathogenic rs267606982 GRCh37 Chromosome 7, 142459789: 142459790
9 PRSS1 NM_002769.4(PRSS1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs111033568 GRCh37 Chromosome 7, 142459788: 142459788
10 PRSS1 PRSS1, TRIPLICATION undetermined variant Pathogenic
11 SPINK1 NM_003122.4(SPINK1): c.101A> G (p.Asn34Ser) single nucleotide variant risk factor rs17107315 GRCh37 Chromosome 5, 147207678: 147207678
12 SPINK1 NM_003122.4(SPINK1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104893938 GRCh37 Chromosome 5, 147211139: 147211139
13 SPINK1 SPINK1, -215G-A, PROMOTER single nucleotide variant Pathogenic
14 SPINK1 NM_003122.4(SPINK1): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs104893939 GRCh37 Chromosome 5, 147211100: 147211100
15 SPINK1 NM_003122.4(SPINK1): c.41T> G (p.Leu14Arg) single nucleotide variant Pathogenic rs104893939 GRCh37 Chromosome 5, 147211100: 147211100
16 SPINK1 SPINK1, 1.3-KB DEL deletion Pathogenic
17 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh37 Chromosome 7, 117246808: 117246808
18 PRSS1 NM_002769.4(PRSS1): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs387906698 GRCh37 Chromosome 7, 142459770: 142459770
19 CFTR NM_000492.3(CFTR): c.1865G> A (p.Gly622Asp) single nucleotide variant Pathogenic rs121908759 GRCh37 Chromosome 7, 117232086: 117232086
20 CFTR NM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs) indel Pathogenic rs121908799 GRCh37 Chromosome 7, 117232272: 117232273
21 CFTR NM_000492.3(CFTR): c.2052dupA (p.Gln685Thrfs) duplication Pathogenic rs121908786 GRCh37 Chromosome 7, 117232273: 117232273
22 CFTR NM_000492.3(CFTR): c.2988G> A (p.Gln996=) single nucleotide variant Pathogenic rs121908797 GRCh37 Chromosome 7, 117246807: 117246807
23 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
24 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic/Likely pathogenic rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
25 PRSS1 NM_002769.4(PRSS1): c.389C> T (p.Thr130Ile) single nucleotide variant Likely pathogenic rs193922655 GRCh37 Chromosome 7, 142459813: 142459813
26 PRSS1 NM_002769.4(PRSS1): c.398C> G (p.Pro133Arg) single nucleotide variant Likely pathogenic rs193922656 GRCh37 Chromosome 7, 142459822: 142459822
27 SPINK1 NM_003122.4(SPINK1): c.27delC (p.Ser10Valfs) deletion Pathogenic rs193922659 GRCh37 Chromosome 5, 147211114: 147211114
28 CFTR NM_000492.3(CFTR): c.3067_3072delATAGTG (p.Ile1023_Val1024del) deletion Pathogenic rs121908767 GRCh37 Chromosome 7, 117250651: 117250656
29 PRSS1 NM_002769.4(PRSS1): c.116T> C (p.Val39Ala) single nucleotide variant Pathogenic rs397507439 GRCh37 Chromosome 7, 142458481: 142458481
30 PRSS1 NM_002769.4(PRSS1): c.415T> A (p.Cys139Ser) single nucleotide variant Pathogenic rs397507440 GRCh37 Chromosome 7, 142459839: 142459839
31 PRSS1 NM_002769.4(PRSS1): c.47C> T (p.Ala16Val) single nucleotide variant Pathogenic rs202003805 GRCh37 Chromosome 7, 142458412: 142458412
32 PRSS1 NM_002769.4(PRSS1): c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle) duplication Pathogenic rs397507441 GRCh37 Chromosome 7, 142458428: 142458436
33 PRSS1 NM_002769.4(PRSS1): c.65A> G (p.Asp22Gly) single nucleotide variant Pathogenic rs397507442 GRCh37 Chromosome 7, 142458430: 142458430
34 PRSS1 NM_002769.4(PRSS1): c.86A> C (p.Asn29Thr) single nucleotide variant Pathogenic rs111033566 GRCh37 Chromosome 7, 142458451: 142458451
35 CFTR NM_000492.3(CFTR): c.489+1G> T single nucleotide variant Pathogenic rs78756941 GRCh37 Chromosome 7, 117171169: 117171169
36 CFTR NM_000492.3(CFTR): c.579+1G> T single nucleotide variant Pathogenic rs77188391 GRCh37 Chromosome 7, 117174420: 117174420
37 CFTR NM_000492.3(CFTR): c.2657+5G> A single nucleotide variant Pathogenic rs80224560 GRCh37 Chromosome 7, 117242922: 117242922
38 CFTR NM_000492.3(CFTR): c.3302T> A (p.Met1101Lys) single nucleotide variant Pathogenic rs36210737 GRCh37 Chromosome 7, 117251797: 117251797
39 CFTR NM_000492.3(CFTR): c.274-1G> A single nucleotide variant Pathogenic rs121908792 GRCh37 Chromosome 7, 117170952: 117170952
40 CFTR NM_000492.3(CFTR): c.803delA (p.Asn268Ilefs) deletion Pathogenic rs121908772 GRCh37 Chromosome 7, 117176661: 117176661
41 CFTR NM_000492.3(CFTR): c.935_937delTCT (p.Phe312del) deletion Pathogenic rs121908768 GRCh37 Chromosome 7, 117180219: 117180221
42 CFTR NM_000492.3(CFTR): c.165-1G> A single nucleotide variant Pathogenic rs397508249 GRCh37 Chromosome 7, 117149087: 117149087
43 CFTR NM_000492.3(CFTR): c.1753G> T (p.Glu585Ter) single nucleotide variant Pathogenic rs397508296 GRCh37 Chromosome 7, 117230480: 117230480
44 CFTR NM_000492.3(CFTR): c.1766+3A> G single nucleotide variant Pathogenic rs397508298 GRCh37 Chromosome 7, 117230496: 117230496
45 CFTR NM_000492.3(CFTR): c.1853T> C (p.Ile618Thr) single nucleotide variant Pathogenic rs139468767 GRCh37 Chromosome 7, 117232074: 117232074
46 CFTR NM_000492.3(CFTR): c.200C> T (p.Pro67Leu) single nucleotide variant Pathogenic rs368505753 GRCh37 Chromosome 7, 117149123: 117149123
47 CFTR NM_000492.3(CFTR): c.2834C> T (p.Ser945Leu) single nucleotide variant Pathogenic rs397508442 GRCh37 Chromosome 7, 117243762: 117243762
48 CFTR NM_000492.3(CFTR): c.3612G> A (p.Trp1204Ter) single nucleotide variant Pathogenic rs121908765 GRCh37 Chromosome 7, 117267719: 117267719
49 CFTR NM_000492.3(CFTR): c.4426C> T (p.Gln1476Ter) single nucleotide variant Pathogenic rs374705585 GRCh37 Chromosome 7, 117307145: 117307145
50 CFTR NM_000492.3(CFTR): c.577G> T (p.Glu193Ter) single nucleotide variant Pathogenic rs397508759 GRCh37 Chromosome 7, 117174417: 117174417

Copy number variations for Pancreatitis, Hereditary from CNVD:

7
# 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

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

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 extracellular region GO:0005576 9.8 APOC2 CCK CPA1 CTRC ELANE LPL
2 extracellular space GO:0005615 9.44 APOC2 CCK CPA1 ELANE LPL MUC4
3 very-low-density lipoprotein particle GO:0034361 9.26 APOC2 LPL
4 chylomicron GO:0042627 9.16 APOC2 LPL

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 9.85 CPA1 CTRC ELANE PRSS1 PRSS2 PRSS3
2 lipid catabolic process GO:0016042 9.65 APOC2 LPL PNLIP
3 extracellular matrix disassembly GO:0022617 9.61 ELANE PRSS1 PRSS2
4 retinoid metabolic process GO:0001523 9.5 APOC2 LPL PNLIP
5 sperm capacitation GO:0048240 9.49 CFTR SPINK1
6 ethanol oxidation GO:0006069 9.46 ADH1B ADH1C
7 chylomicron remodeling GO:0034371 9.4 APOC2 LPL
8 antimicrobial humoral response GO:0019730 9.33 ELANE PRSS2 PRSS3
9 very-low-density lipoprotein particle remodeling GO:0034372 9.26 APOC2 LPL
10 cobalamin metabolic process GO:0009235 9.13 CTRC PRSS1 PRSS3
11 digestion GO:0007586 8.92 PRSS1 PRSS2 PRSS3 SST

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

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.81 CFTR CPA1 CTRC ELANE LPL PNLIP
2 peptidase activity GO:0008233 9.73 CPA1 CTRC ELANE PRSS1 PRSS2 PRSS3
3 hormone activity GO:0005179 9.54 CCK SCT SST
4 triglyceride lipase activity GO:0004806 9.4 LPL PNLIP
5 serine-type endopeptidase activity GO:0004252 9.35 CTRC ELANE PRSS1 PRSS2 PRSS3
6 alcohol dehydrogenase activity, zinc-dependent GO:0004024 9.32 ADH1B ADH1C
7 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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