PCTT
MCID: PNC108
MIFTS: 61

Pancreatitis, Hereditary (PCTT)

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

Aliases & Classifications for Pancreatitis, Hereditary

MalaCards integrated aliases for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 58 77 76 13
Hereditary Pancreatitis 77 54 26 38 30 6 74
Chronic Pancreatitis 76 38 30 56 6 17
Pancreatitis, Chronic, Protection Against 58 30 6
Pancreatitis, Chronic, Susceptibility to 58 30 6
Hereditary Chronic Pancreatitis 54 26 60
Hp 58 26 76
Autosomal Dominant Hereditary Pancreatitis 26 74
Pancreatitis, Chronic 58 74
Pctt 58 76
Hpc 58 76
Pancreatitis Hereditary 56
Familial Pancreatitis 26
Hps 3
Cp 76

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal dominant


HPO:

33
pancreatitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pancreatitis, Hereditary

NIH Rare Diseases : 54 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. 

MalaCards based summary : Pancreatitis, Hereditary, also known as hereditary pancreatitis, is related to pancreatitis and pancreatic agenesis 1. 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 Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include pancreas and testes, and related phenotypes are abdominal pain and leukocytosis

Genetics Home Reference : 26 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 Hantaviruses are a family of viruses spread mainly by rodents and can cause varied disease syndromes in people worldwide.  Infection with any hantavirus can produce hantavirus disease in people. Hantaviruses in the Americas are known as “New World” hantaviruses and may cause hantavirus pulmonary syndrome (HPS). Other hantaviruses, known as “Old World” hantaviruses, are found mostly in Europe and Asia and may cause hemorrhagic fever with renal syndrome (HFRS).

UniProtKB/Swiss-Prot : 76 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.

Wikipedia : 77 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 Autoimmune Pancreatitis
Acute Pancreatitis Prss1-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 501)
# Related Disease Score Top Affiliating Genes
1 pancreatitis 31.0 CFTR CTRC PRSS1 PRSS2 SPINK1
2 pancreatic agenesis 1 30.9 CFTR SPINK1
3 exocrine pancreatic insufficiency 30.7 CFTR SPINK1
4 alcoholic pancreatitis 30.1 CFTR PRSS1 SPINK1
5 tropical calcific pancreatitis 30.0 CTRC PRSS1 PRSS2 SPINK1
6 autoimmune pancreatitis 30.0 CFTR PRSS1
7 recurrent acute pancreatitis 29.9 CFTR CTRC PRSS1 SPINK1
8 pancreatic cancer 29.8 MIR10B MIR128-2 MIR199A1 MIR199A2 MIR96 MIR99A
9 prostate cancer 28.9 MIR10B MIR126 MIR195 MIR198 MIR199A1 MIR199B
10 lung cancer 28.5 MIR126 MIR128-2 MIR195 MIR197 MIR198 MIR199A1
11 hantavirus pulmonary syndrome 12.2
12 prss1-related hereditary pancreatitis 12.2
13 aceruloplasminemia 12.1
14 hermansky-pudlak syndrome 12.0
15 cleft palate, isolated 12.0
16 cerebral palsy 11.8
17 extrinsic allergic alveolitis 11.8
18 hepatopulmonary syndrome 11.6
19 malaria 11.6
20 diabetes mellitus 11.5
21 liver disease 11.5
22 hemangiopericytoma, malignant 11.5
23 heart disease 11.4
24 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.4
25 trypanosomiasis 11.4
26 hermansky-pudlak syndrome 2 11.4
27 leukemia, chronic myeloid 11.4
28 cleft lip 11.3
29 central pain syndrome 11.3
30 endometritis 11.3
31 hermansky-pudlak syndrome 7 11.3
32 anhaptoglobinemia 11.3
33 hemosiderosis 11.3
34 cerebral palsy, ataxic, autosomal recessive 11.3
35 wilson disease 11.2
36 deficiency anemia 11.2
37 retinal degeneration 11.2
38 hemochromatosis, type 1 11.2
39 menkes disease 11.2
40 pneumoconiosis 11.2
41 plasmodium falciparum malaria 11.2
42 hermansky-pudlak syndrome 1 11.1
43 hermansky-pudlak syndrome 5 11.1
44 hypochromic microcytic anemia 11.1
45 mastitis 11.1
46 chronic pyelonephritis 11.1
47 protein-energy malnutrition 11.1
48 nutmeg liver 11.1
49 boutonneuse fever 11.1
50 iron metabolism disease 11.1

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

Human phenotypes related to Pancreatitis, Hereditary:

60 33 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abdominal pain 60 33 hallmark (90%) Very frequent (99-80%) HP:0002027
2 leukocytosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0001974
3 elevated c-reactive protein level 60 33 hallmark (90%) Very frequent (99-80%) HP:0011227
4 recurrent pancreatitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100027
5 abnormal enzyme/coenzyme activity 60 33 frequent (33%) Frequent (79-30%) HP:0012379
6 diabetes mellitus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000819
7 jaundice 60 33 occasional (7.5%) Occasional (29-5%) HP:0000952
8 pancreatic calcification 60 33 occasional (7.5%) Occasional (29-5%) HP:0005213
9 splanchnic vein thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0030247
10 fever 33 HP:0001945
11 abnormal thrombosis 33 HP:0001977
12 exocrine pancreatic insufficiency 33 HP:0001738
13 pancreatitis 33 HP:0001733
14 pleural effusion 33 HP:0002202
15 steatorrhea 33 HP:0002570
16 pancreatic pseudocyst 33 HP:0005206

Symptoms via clinical synopsis from OMIM:

58
Metabolic:
diabetes mellitus

Vascular:
portal or splenic vein thrombosis

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

G I:
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

Drugs & Therapeutics for Pancreatitis, Hereditary

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

(show all 34)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
2
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
3
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
4
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
7 Tocotrienol Investigational Phase 3 6829-55-6
8 Vitamins Phase 3
9 Nutrients Phase 3
10 Protective Agents Phase 3
11 Tocotrienols Phase 3
12 Excitatory Amino Acid Agonists Phase 3
13 Excitatory Amino Acids Phase 3
14 N-Methylaspartate Phase 3
15 Aspartic Acid Phase 3
16 Tocopherols Phase 3
17 Trace Elements Phase 3
18 Micronutrients Phase 3
19 Antioxidants Phase 3
20 Neurotransmitter Agents Phase 3
21
Amlodipine Approved Phase 1, Phase 2 88150-42-9 2162
22
Calcium Approved, Nutraceutical Phase 1, Phase 2 7440-70-2 271
23 Antihypertensive Agents Phase 1, Phase 2
24 calcium channel blockers Phase 1, Phase 2
25 Calcium, Dietary Phase 1, Phase 2
26 Vasodilator Agents Phase 1, Phase 2
27 Hormones Phase 1, Phase 2
28
Pancrelipase Approved, Investigational 53608-75-6
29
Secretin Approved 108153-74-8
30
Serine Approved, Nutraceutical 56-45-1 5951
31 pancreatin
32 Gastrointestinal Agents
33 Hormones, Hormone Substitutes, and Hormone Antagonists
34 Hormone Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic Pancreatitis Active, not recruiting NCT00142233 Phase 3 Magnesium
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 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Completed NCT02703545
4 Genetic Linkage Study for Hereditary Pancreatitis Recruiting NCT00004475
5 Quality Control Study of MR Based Screening of Individual With Increased Risk for Pancreas Cancer. Recruiting NCT02078245
6 The Cancer of the Pancreas Screening-5 CAPS5)Study Recruiting NCT02000089 Human synthetic secretin
7 Pancreatic Cancer Early Detection Program Recruiting NCT02206360
8 Pancreas Registry and High Risk Registry Recruiting NCT02775461
9 Pancreatic Cancer Screening of High-Risk Individuals in Arkansas Active, not recruiting NCT02309632 Not Applicable

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 30 CFTR CTRC PRSS1 PRSS2 SPINK1
2 Pancreatitis, Chronic, Susceptibility to 30
3 Chronic Pancreatitis 30
4 Pancreatitis, Chronic, Protection Against 30

Anatomical Context for Pancreatitis, Hereditary

MalaCards organs/tissues related to Pancreatitis, Hereditary:

42
Pancreas, Testes

Publications for Pancreatitis, Hereditary

Articles related to Pancreatitis, Hereditary:

(show top 50) (show all 218)
# Title Authors Year
1
Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects. ( 29666173 )
2019
2
Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer. ( 30018304 )
2018
3
Hereditary Pancreatitis Showing Numerous Cysts with Pancreatic Cancer. ( 29984748 )
2018
4
Completion Pancreaticoduodenectomy for Hereditary Pancreatitis After Prior Puestow Procedure: A Case Report. ( 30631860 )
2018
5
EUS-guided pancreaticogastrostomy and transgastric per-oral pancreatoscopy with electrohydraulic lithotripsy in a patient with chronic hereditary pancreatitis and several intraductal stones. ( 30128402 )
2018
6
Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis. ( 29517634 )
2018
7
Nationwide survey of hereditary pancreatitis in Japan. ( 28861620 )
2018
8
Clinical aspects of pancreatogenic diabetes secondary to hereditary pancreatitis. ( 28101143 )
2017
9
A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis. ( 28258133 )
2017
10
Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis. ( 28011893 )
2017
11
Specific Radiological Imaging Findings in Patients With Hereditary Pancreatitis During a Long Follow-up of Disease. ( 28129231 )
2017
12
Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis. ( 27129265 )
2016
13
Hereditary pancreatitis: current perspectives. ( 27555793 )
2016
14
Hereditary pancreatitis of 3 Chinese children: Case report and literature review. ( 27603351 )
2016
15
Hereditary Pancreatitis. ( 26878183 )
2016
16
The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases. ( 27179762 )
2016
17
Therapeutic step-up strategy for management of hereditary pancreatitis in children. ( 25840052 )
2015
18
Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study. ( 26376395 )
2015
19
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
20
The histopathology of PRSS1 hereditary pancreatitis. ( 24525505 )
2014
21
Pancreatic cancer risk in hereditary pancreatitis. ( 24600409 )
2014
22
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. ( 24780743 )
2014
23
Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis. ( 25058887 )
2014
24
Endoscopic Therapy for Complete Pancreatic Ductal Obstruction in A Child With Hereditary Pancreatitis. ( 24590217 )
2014
25
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. ( 23601753 )
2013
26
Hereditary pancreatitis for the endoscopist. ( 23503650 )
2013
27
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene. ( 24134754 )
2013
28
Hereditary pancreatitis: endoscopic and surgical management. ( 23435738 )
2013
29
Hereditary Pancreatitis: Dilemmas in Differential Diagnosis and Therapeutic Approach. ( 24242859 )
2013
30
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. ( 22539344 )
2012
31
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. ( 22572128 )
2012
32
An overview of hereditary pancreatitis. ( 21907651 )
2012
33
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. ( 21110969 )
2011
34
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. ( 21499207 )
2011
35
Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis. ( 19765677 )
2010
36
Outcomes of interventional ERCP in hereditary pancreatitis. ( 19713862 )
2010
37
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. ( 20502448 )
2010
38
Managing complications of hereditary pancreatitis: all roads lead to ERCP. ( 19834339 )
2010
39
Hereditary pancreatitis. ( 20697897 )
2010
40
Splenic pseudoaneurysm in a child with hereditary pancreatitis. ( 20386320 )
2010
41
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations. ( 20452997 )
2010
42
The natural history of hereditary pancreatitis: a national series. ( 18755888 )
2009
43
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. ( 19454815 )
2009
44
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. ( 19191323 )
2009
45
[Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain]. ( 19857283 )
2009
46
Hereditary pancreatitis model WBN/Kob rat strain has a unique haplotype in the Pdwk1 region on chromosome 7. ( 19654439 )
2009
47
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
48
Comments on hereditary pancreatitis. ( 19592702 )
2009
49
Mortality rate and risk factors in patients with hereditary pancreatitis: uni- and multidimensional analyses. ( 19550412 )
2009
50
Hereditary pancreatitis in children: surgical implications with special regard to genetic background. ( 19944211 )
2009

Variations for Pancreatitis, Hereditary

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

76 (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 455)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRSS1 NM_002769.4(PRSS1): c.354A> C (p.Val118=) single nucleotide variant Uncertain significance rs606231347 GRCh37 Chromosome 7, 142459778: 142459778
2 PRSS1 NM_002769.4(PRSS1): c.343T> A (p.Ser115Thr) single nucleotide variant Likely benign rs606231344 GRCh38 Chromosome 7, 142751916: 142751916
3 PRSS1 NM_002769.4(PRSS1): c.343T> A (p.Ser115Thr) single nucleotide variant Likely benign rs606231344 GRCh37 Chromosome 7, 142459767: 142459767
4 PRSS1 NM_002769.4(PRSS1): c.347G> C (p.Arg116Pro) single nucleotide variant Likely pathogenic rs199769221 GRCh38 Chromosome 7, 142751920: 142751920
5 PRSS1 NM_002769.4(PRSS1): c.347G> C (p.Arg116Pro) single nucleotide variant Likely pathogenic rs199769221 GRCh37 Chromosome 7, 142459771: 142459771
6 PRSS1 NM_002769.4(PRSS1): c.351A> C (p.Ala117=) single nucleotide variant Uncertain significance rs606231346 GRCh38 Chromosome 7, 142751924: 142751924
7 PRSS1 NM_002769.4(PRSS1): c.351A> C (p.Ala117=) single nucleotide variant Uncertain significance rs606231346 GRCh37 Chromosome 7, 142459775: 142459775
8 PRSS1 NM_002769.4(PRSS1): c.354A> C (p.Val118=) single nucleotide variant Uncertain significance rs606231347 GRCh38 Chromosome 7, 142751927: 142751927
9 PRSS1 NM_002769.4(PRSS1): c.360C> T (p.Asn120=) single nucleotide variant Likely benign rs606231348 GRCh38 Chromosome 7, 142751933: 142751933
10 PRSS1 NM_002769.4(PRSS1): c.360C> T (p.Asn120=) single nucleotide variant Likely benign rs606231348 GRCh37 Chromosome 7, 142459784: 142459784
11 PRSS1 NM_002769.4(PRSS1): c.390C> T (p.Thr130=) single nucleotide variant Conflicting interpretations of pathogenicity rs561097415 GRCh38 Chromosome 7, 142751963: 142751963
12 PRSS1 NM_002769.4(PRSS1): c.390C> T (p.Thr130=) single nucleotide variant Conflicting interpretations of pathogenicity rs561097415 GRCh37 Chromosome 7, 142459814: 142459814
13 CFTR NM_000492.3(CFTR): c.850dupA (p.Met284Asnfs) duplication Pathogenic/Likely pathogenic rs786204693 GRCh37 Chromosome 7, 117176708: 117176708
14 CFTR NM_000492.3(CFTR): c.850dupA (p.Met284Asnfs) duplication Pathogenic/Likely pathogenic rs786204693 GRCh38 Chromosome 7, 117536654: 117536654
15 CFTR NM_000492.3(CFTR): c.220C> T (p.Arg74Trp) single nucleotide variant drug response rs115545701 GRCh37 Chromosome 7, 117149143: 117149143
16 CFTR NM_000492.3(CFTR): c.220C> T (p.Arg74Trp) single nucleotide variant drug response rs115545701 GRCh38 Chromosome 7, 117509089: 117509089
17 CFTR NM_000492.3(CFTR): c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs) indel Pathogenic rs796065332 GRCh37 Chromosome 7, 117176706: 117176718
18 CFTR NM_000492.3(CFTR): c.848_860delAAATGATTGAAAAinsTG (p.Lys283Metfs) indel Pathogenic rs796065332 GRCh38 Chromosome 7, 117536652: 117536664
19 CFTR NM_000492.3(CFTR): c.2900T> C (p.Leu967Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1800110 GRCh37 Chromosome 7, 117243828: 117243828
20 CFTR NM_000492.3(CFTR): c.2900T> C (p.Leu967Ser) single nucleotide variant Conflicting interpretations of pathogenicity rs1800110 GRCh38 Chromosome 7, 117603774: 117603774
21 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh37 Chromosome 7, 117199646: 117199648
22 CFTR NM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh38 Chromosome 7, 117559592: 117559594
23 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
24 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
25 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
26 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh38 Chromosome 7, 117587778: 117587778
27 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
28 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh38 Chromosome 7, 117587806: 117587806
29 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
30 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh38 Chromosome 7, 117587811: 117587811
31 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh37 Chromosome 7, 117180305: 117180306
32 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh38 Chromosome 7, 117540251: 117540252
33 CFTR NM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys) single nucleotide variant Pathogenic rs80034486 GRCh37 Chromosome 7, 117292931: 117292931
34 CFTR NM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys) single nucleotide variant Pathogenic rs80034486 GRCh38 Chromosome 7, 117652877: 117652877
35 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs75528968 GRCh37 Chromosome 7, 117180232: 117180232
36 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs75528968 GRCh38 Chromosome 7, 117540178: 117540178
37 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh37 Chromosome 7, 117282582: 117282582
38 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh38 Chromosome 7, 117642528: 117642528
39 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh37 Chromosome 7, 117230454: 117230454
40 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh38 Chromosome 7, 117590400: 117590400
41 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
42 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh38 Chromosome 7, 117639961: 117639961
43 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh37 Chromosome 7, 117199563: 117199563
44 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh38 Chromosome 7, 117559509: 117559509
45 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
46 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh38 Chromosome 7, 117535285: 117535285
47 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh37 Chromosome 7, 117250575: 117250575
48 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh38 Chromosome 7, 117610521: 117610521
49 CFTR NM_000492.3(CFTR): c.4056G> C (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh37 Chromosome 7, 117304834: 117304834
50 CFTR NM_000492.3(CFTR): c.4056G> C (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh38 Chromosome 7, 117664780: 117664780

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:

38
# Name Kegg Source Accession
1 Pancreatic secretion hsa04972
2 Protein digestion and absorption hsa04974
3 Gastric acid secretion hsa04971
4 Bile secretion hsa04976

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

# Super pathways Score Top Affiliating Genes
1 11.84 MIR10B MIR126 MIR128-2 MIR195 MIR199A1 MIR199A2
2 11.32 CFTR PRSS1 PRSS2
3 11.06 MIR128-2 MIR195 MIR497
4 10.9 MIR199A1 MIR199A2
5 10.58 CTRC PRSS1

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 space GO:0005615 9.73 MIR10B MIR126 MIR128-2 MIR197 MIR199A1 MIR199A2
2 micro-ribonucleoprotein complex GO:0035068 9.47 MIR10B MIR126 MIR128-2 MIR195 MIR197 MIR198

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

(show all 26)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.83 MIR126 MIR199A1 MIR199A2 MIR199B
2 positive regulation of cardiac muscle cell proliferation GO:0060045 9.69 MIR199A1 MIR199A2 MIR199B
3 regulation of angiogenesis GO:0045765 9.67 MIR199A1 MIR199A2 MIR199B
4 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.65 MIR199A1 MIR199A2 MIR199B
5 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.63 MIR10B MIR126
6 digestion GO:0007586 9.62 PRSS1 PRSS2
7 positive regulation of TOR signaling GO:0032008 9.62 MIR199A1 MIR199A2
8 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.61 MIR483 MIR497
9 sperm capacitation GO:0048240 9.61 CFTR SPINK1
10 negative regulation of cardiac muscle cell proliferation GO:0060044 9.61 MIR199A1 MIR199A2 MIR199B
11 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.6 MIR10B MIR126
12 cobalamin metabolic process GO:0009235 9.59 CTRC PRSS1
13 negative regulation of nitric oxide biosynthetic process GO:0045019 9.58 MIR199A1 MIR199A2
14 negative regulation of low-density lipoprotein particle clearance GO:0010989 9.58 MIR199A1 MIR199A2
15 cell growth involved in cardiac muscle cell development GO:0061049 9.58 MIR195 MIR199A1 MIR199A2
16 positive regulation of cell growth involved in cardiac muscle cell development GO:0061051 9.57 MIR199A1 MIR199A2
17 positive regulation of cardiac muscle hypertrophy in response to stress GO:1903244 9.56 MIR199A1 MIR199A2
18 negative regulation of receptor internalization GO:0002091 9.55 MIR199A1 MIR199A2
19 regulation of cardiac muscle cell proliferation GO:0060043 9.54 MIR199A1 MIR199A2
20 positive regulation of connective tissue replacement GO:1905205 9.54 MIR195 MIR199A1 MIR199A2
21 negative regulation of cell growth involved in cardiac muscle cell development GO:0061052 9.5 MIR199A1 MIR199A2 MIR199B
22 gene silencing by miRNA GO:0035195 9.5 MIR10B MIR126 MIR128-2 MIR195 MIR197 MIR198
23 positive regulation of lung blood pressure GO:0061766 9.46 MIR199A1 MIR199A2
24 re-entry into mitotic cell cycle GO:0000320 9.43 MIR199A1 MIR199A2 MIR199B
25 positive regulation of cardiac muscle tissue regeneration GO:1905180 9.33 MIR199A1 MIR199A2 MIR199B
26 regulation of connective tissue replacement GO:1905203 9.13 MIR199A1 MIR199A2 MIR199B

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

# Name GO ID Score Top Affiliating Genes
1 mRNA binding involved in posttranscriptional gene silencing GO:1903231 9.32 MIR10B MIR126 MIR128-2 MIR199A1 MIR199A2 MIR199B
2 serine-type peptidase activity GO:0008236 9.13 CTRC PRSS1 PRSS2

Sources for Pancreatitis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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