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PCTT
MCID: PNC108
MIFTS: 62

Pancreatitis, Hereditary (PCTT)

Categories: Bone diseases, Endocrine diseases, Gastrointestinal diseases, Genetic diseases, Immune diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Pancreatitis, Hereditary

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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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Gastrointestinal diseases Endocrine diseases Bone diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare gastroenterological diseases
Rare endocrine diseases


Sources

Summaries for Pancreatitis, Hereditary

About this section
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 pancreatic agenesis 1 and pancreatitis. An important gene associated with Pancreatitis, Hereditary is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways/superpathways are Pancreatic secretion and Protein digestion and absorption. The drugs Midazolam and Tocopherol have been mentioned in the context of this disorder. Affiliated tissues include pancreas, prostate and brain, 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
Sources

Related Diseases for Pancreatitis, Hereditary

About this section

Diseases in the Pancreatitis family:

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

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

(show top 50) (show all 526)
# Related Disease Score Top Affiliating Genes
1 pancreatic agenesis 1 31.0 CFTR SPINK1
2 pancreatitis 30.9 CFTR CTRC PRSS1 PRSS2 SPINK1
3 pancreas disease 30.8 CFTR PRSS1 SPINK1
4 exocrine pancreatic insufficiency 30.7 CFTR SPINK1
5 alcoholic pancreatitis 30.3 CFTR PRSS1 SPINK1
6 tropical calcific pancreatitis 30.1 CTRC PRSS1 PRSS2 SPINK1
7 recurrent acute pancreatitis 29.9 CFTR CTRC PRSS1 SPINK1
8 autoimmune pancreatitis 29.9 CFTR PRSS1
9 pancreatic cancer 29.9 MIR10B MIR128-2 MIR199A1 MIR199A2 MIR96 MIR99A
10 prostate cancer 28.9 MIR10B MIR126 MIR195 MIR198 MIR199A1 MIR199B
11 lung cancer 28.5 MIR126 MIR128-2 MIR195 MIR197 MIR198 MIR199A1
12 hantavirus pulmonary syndrome 12.2
13 aceruloplasminemia 12.1
14 prss1-related hereditary pancreatitis 12.1
15 hermansky-pudlak syndrome 12.1
16 cleft palate, isolated 12.0
17 extrinsic allergic alveolitis 11.8
18 cerebral palsy 11.8
19 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.7
20 hepatopulmonary syndrome 11.6
21 anhaptoglobinemia 11.6
22 malaria 11.6
23 diabetes mellitus 11.5
24 liver disease 11.5
25 hermansky-pudlak syndrome 1 11.5
26 heart disease 11.5
27 trypanosomiasis 11.4
28 hermansky-pudlak syndrome 2 11.4
29 leukemia, chronic myeloid 11.4
30 yorifuji okuno syndrome 11.4
31 cleft lip 11.4
32 central pain syndrome 11.3
33 endometritis 11.3
34 hermansky-pudlak syndrome 4 11.3
35 hermansky-pudlak syndrome 7 11.3
36 hemosiderosis 11.3
37 cerebral palsy, ataxic, autosomal recessive 11.3
38 wilson disease 11.3
39 deficiency anemia 11.3
40 retinal degeneration 11.3
41 hemochromatosis, type 1 11.2
42 menkes disease 11.2
43 pneumoconiosis 11.2
44 plasmodium falciparum malaria 11.2
45 hermansky-pudlak syndrome 5 11.2
46 hypochromic microcytic anemia 11.1
47 mastitis 11.1
48 chronic pyelonephritis 11.1
49 protein-energy malnutrition 11.1
50 nutmeg liver 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
Sources

Symptoms & Phenotypes for Pancreatitis, Hereditary

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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
Sources

Drugs & Therapeutics for Pancreatitis, Hereditary

About this section

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 E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
5
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
6
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 54670067 5785
7 Tocotrienol Investigational Phase 3 6829-55-6
8 Protective Agents Phase 3
9 Tocopherols Phase 3
10 Nutrients Phase 3
11 Vitamins Phase 3
12 Neurotransmitter Agents Phase 3
13 Tocotrienols Phase 3
14 Excitatory Amino Acid Agonists Phase 3
15 Excitatory Amino Acids Phase 3
16 Trace Elements Phase 3
17 Micronutrients Phase 3
18 Antioxidants Phase 3
19 N-Methylaspartate Phase 3
20 Aspartic Acid 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 Calcium, Dietary Phase 1, Phase 2
24 Hormones Phase 1, Phase 2
25 Vasodilator Agents Phase 1, Phase 2
26 calcium channel blockers Phase 1, Phase 2
27 Antihypertensive Agents 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 Gastrointestinal Agents
32 pancreatin
33 Hormone Antagonists
34 Hormones, Hormone Substitutes, and 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

Sources

Genetic Tests for Pancreatitis, Hereditary

About this section

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
Sources

Anatomical Context for Pancreatitis, Hereditary

About this section

MalaCards organs/tissues related to Pancreatitis, Hereditary:

42
Pancreas, Prostate, Brain, Bone, Myeloid, Thyroid, Testes
Sources

Publications for Pancreatitis, Hereditary

About this section

Articles related to Pancreatitis, Hereditary:

(show top 50) (show all 238)
# Title Authors Year
1
Novel p.K374E variant of CPA1 causes misfolding-induced hereditary pancreatitis with autosomal dominant inheritance. ( 31005883 )
2019
2
Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects. ( 29666173 )
2019
3
Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer. ( 30018304 )
2018
4
Hereditary Pancreatitis Showing Numerous Cysts with Pancreatic Cancer. ( 29984748 )
2018
5
Completion Pancreaticoduodenectomy for Hereditary Pancreatitis After Prior Puestow Procedure: A Case Report. ( 30631860 )
2018
6
Nationwide survey of hereditary pancreatitis in Japan. ( 28861620 )
2018
7
Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis. ( 29517634 )
2018
8
EUS-guided pancreaticogastrostomy and transgastric per-oral pancreatoscopy with electrohydraulic lithotripsy in a patient with chronic hereditary pancreatitis and several intraductal stones. ( 30128402 )
2018
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
Clinical aspects of pancreatogenic diabetes secondary to hereditary pancreatitis. ( 28101143 )
2017
12
Specific Radiological Imaging Findings in Patients With Hereditary Pancreatitis During a Long Follow-up of Disease. ( 28129231 )
2017
13
Hereditary pancreatitis: current perspectives. ( 27555793 )
2016
14
The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases. ( 27179762 )
2016
15
Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis. ( 27129265 )
2016
16
Hereditary Pancreatitis. ( 26878183 )
2016
17
Endoscopic Therapy for Complete Pancreatic Ductal Obstruction in a Child With Hereditary Pancreatitis. ( 24590217 )
2016
18
Hereditary pancreatitis of 3 Chinese children: Case report and literature review. ( 27603351 )
2016
19
Analysis of protein-coding genetic variation in 60,706 humans. ( 27535533 )
2016
20
Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study. ( 26376395 )
2015
21
Therapeutic step-up strategy for management of hereditary pancreatitis in children. ( 25840052 )
2015
22
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
23
Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis. ( 25058887 )
2015
24
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. ( 24780743 )
2015
25
Pancreatic cancer risk in hereditary pancreatitis. ( 24600409 )
2014
26
The histopathology of PRSS1 hereditary pancreatitis. ( 24525505 )
2014
27
Hereditary pancreatitis: dilemmas in differential diagnosis and therapeutic approach. ( 24242859 )
2014
28
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene. ( 24134754 )
2013
29
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. ( 23601753 )
2013
30
Hereditary pancreatitis for the endoscopist. ( 23503650 )
2013
31
Hereditary pancreatitis: endoscopic and surgical management. ( 23435738 )
2013
32
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. ( 22572128 )
2012
33
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. ( 22539344 )
2012
34
An overview of hereditary pancreatitis. ( 21907651 )
2012
35
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. ( 21110969 )
2011
36
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. ( 21499207 )
2011
37
Hereditary pancreatitis. ( 20697897 )
2010
38
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. ( 20502448 )
2010
39
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations. ( 20452997 )
2010
40
Splenic pseudoaneurysm in a child with hereditary pancreatitis. ( 20386320 )
2010
41
Managing complications of hereditary pancreatitis: all roads lead to ERCP. ( 19834339 )
2010
42
Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis. ( 19765677 )
2010
43
Outcomes of interventional ERCP in hereditary pancreatitis. ( 19713862 )
2010
44
Hereditary pancreatitis in children: surgical implications with special regard to genetic background. ( 19944211 )
2009
45
Hereditary pancreatitis model WBN/Kob rat strain has a unique haplotype in the Pdwk1 region on chromosome 7. ( 19654439 )
2009
46
Comments on hereditary pancreatitis. ( 19592702 )
2009
47
Mortality rate and risk factors in patients with hereditary pancreatitis: uni- and multidimensional analyses. ( 19550412 )
2009
48
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. ( 19454815 )
2009
49
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. ( 19191323 )
2009
50
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
Sources

Variations for Pancreatitis, Hereditary

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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 511)
# 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.1521_1523delCTT (p.Phe508delPhe) deletion Pathogenic rs113993960 GRCh38 Chromosome 7, 117559592: 117559594
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.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
5 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh37 Chromosome 7, 117188849: 117188849
6 CFTR NM_000492.3(CFTR): c.1364C> A (p.Ala455Glu) single nucleotide variant Pathogenic rs74551128 GRCh38 Chromosome 7, 117548795: 117548795
7 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
8 CFTR NM_000492.3(CFTR): c.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh38 Chromosome 7, 117587778: 117587778
9 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh37 Chromosome 7, 117227855: 117227855
10 CFTR NM_000492.3(CFTR): c.1647T> G (p.Ser549Arg) single nucleotide variant Pathogenic,drug response rs121909005 GRCh38 Chromosome 7, 117587801: 117587801
11 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
12 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh38 Chromosome 7, 117587806: 117587806
13 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
14 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh38 Chromosome 7, 117587811: 117587811
15 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh37 Chromosome 7, 117282620: 117282620
16 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh38 Chromosome 7, 117642566: 117642566
17 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh37 Chromosome 7, 117180305: 117180306
18 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh38 Chromosome 7, 117540251: 117540252
19 CFTR NM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys) single nucleotide variant Pathogenic rs80034486 GRCh37 Chromosome 7, 117292931: 117292931
20 CFTR NM_000492.3(CFTR): c.3909C> G (p.Asn1303Lys) single nucleotide variant Pathogenic rs80034486 GRCh38 Chromosome 7, 117652877: 117652877
21 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh37 Chromosome 7, 117180284: 117180284
22 CFTR NM_000492.3(CFTR): c.1000C> T (p.Arg334Trp) single nucleotide variant Pathogenic rs121909011 GRCh38 Chromosome 7, 117540230: 117540230
23 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh37 Chromosome 7, 117267579: 117267579
24 CFTR NM_000492.3(CFTR): c.3472C> T (p.Arg1158Ter) single nucleotide variant Pathogenic rs79850223 GRCh38 Chromosome 7, 117627525: 117627525
25 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh37 Chromosome 7, 117199600: 117199600
26 CFTR NM_000492.3(CFTR): c.1475C> T (p.Ser492Phe) single nucleotide variant Pathogenic rs121909017 GRCh38 Chromosome 7, 117559546: 117559546
27 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs75528968 GRCh37 Chromosome 7, 117180232: 117180232
28 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs75528968 GRCh38 Chromosome 7, 117540178: 117540178
29 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh37 Chromosome 7, 117282582: 117282582
30 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh38 Chromosome 7, 117642528: 117642528
31 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh37 Chromosome 7, 117230454: 117230454
32 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh38 Chromosome 7, 117590400: 117590400
33 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
34 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh38 Chromosome 7, 117639961: 117639961
35 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh37 Chromosome 7, 117199563: 117199563
36 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh38 Chromosome 7, 117559509: 117559509
37 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
38 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh38 Chromosome 7, 117535285: 117535285
39 CFTR NM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter) single nucleotide variant Pathogenic rs78802634 GRCh37 Chromosome 7, 117251761: 117251761
40 CFTR NM_000492.3(CFTR): c.3266G> A (p.Trp1089Ter) single nucleotide variant Pathogenic rs78802634 GRCh38 Chromosome 7, 117611707: 117611707
41 CFTR NM_000492.3(CFTR): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic,drug response rs121908753 GRCh37 Chromosome 7, 117180339: 117180339
42 CFTR NM_000492.3(CFTR): c.1055G> A (p.Arg352Gln) single nucleotide variant Pathogenic,drug response rs121908753 GRCh38 Chromosome 7, 117540285: 117540285
43 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh37 Chromosome 7, 117250575: 117250575
44 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh38 Chromosome 7, 117610521: 117610521
45 CFTR NM_000492.3(CFTR): c.4056G> C (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh37 Chromosome 7, 117304834: 117304834
46 CFTR NM_000492.3(CFTR): c.4056G> C (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh38 Chromosome 7, 117664780: 117664780
47 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh37 Chromosome 7, 142481892: 142481892
48 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh38 Chromosome 7, 142774035: 142774035
49 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh37 Chromosome 7, 977079: 977079
50 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh37 Chromosome 1, 15772212: 15772212

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
Sources

Expression for Pancreatitis, Hereditary

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

Pathways for Pancreatitis, Hereditary

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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
MicroRNAs in cancer 38
11.84 MIR10B MIR126 MIR128-2 MIR195 MIR199A1 MIR199A2
2
Pancreatic secretion 38
11.32 CFTR PRSS1 PRSS2
3
Parkinsons Disease Pathway 1
11.06 MIR128-2 MIR195 MIR497
4
Cell Differentiation - Index 1
10.9 MIR199A1 MIR199A2
5
Cobalamin (Cbl, vitamin B12) transport and metabolism 67
10.58 CTRC PRSS1
Sources

GO Terms for Pancreatitis, Hereditary

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

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.73 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

Sources for Pancreatitis, Hereditary

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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