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PCTT
MCID: PNC108
MIFTS: 65

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 57 76 75 13
Hereditary Pancreatitis 76 53 25 37 29 6 73
Chronic Pancreatitis 75 37 29 55 6
Pancreatitis, Chronic, Susceptibility to 57 29 6
Hereditary Chronic Pancreatitis 53 25 59
Hp 57 25 75
Autosomal Dominant Hereditary Pancreatitis 25 73
Pancreatitis, Chronic, Protection Against 57 6
Pancreatitis, Chronic 57 73
Pctt 57 75
Hpc 57 75
Pancreatitis Hereditary 55
Familial Pancreatitis 25
Cp 75

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal dominant


HPO:

32
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: 34
Orphanet: 59  
Rare gastroenterological diseases
Rare endocrine diseases


Sources

Summaries for Pancreatitis, Hereditary

About this section
NIH Rare Diseases : 53 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 Selenium and Midazolam have been mentioned in the context of this disorder. Affiliated tissues include pancreas, testes and bone, and related phenotypes are diabetes mellitus and abdominal pain

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

UniProtKB/Swiss-Prot : 75 Pancreatitis, hereditary: A disease characterized by pancreas inflammation, permanent destruction of the pancreatic parenchyma, maldigestion, and severe abdominal pain attacks.

Wikipedia : 76 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 430)
# Related Disease Score Top Affiliating Genes
1 pancreatitis 30.8 SPINK1 PRSS2 PRSS1 CTRC CFTR
2 pancreatic agenesis 1 30.7 SPINK1 CFTR
3 exocrine pancreatic insufficiency 30.5 SPINK1 CFTR
4 pancreatic cancer 29.9 SPINK1 PRSS1 MIR99A MIR96 MIR199A2 MIR199A1
5 tropical calcific pancreatitis 29.9 SPINK1 PRSS2 PRSS1 CTRC
6 autoimmune pancreatitis 29.9 PRSS1 CFTR
7 alcoholic pancreatitis 29.9 SPINK1 PRSS1 CFTR
8 recurrent acute pancreatitis 29.8 SPINK1 PRSS1 CTRC CFTR
9 prostate cancer 29.3 MIR99A MIR96 MIR497 MIR199B MIR199A1 MIR198
10 lung cancer 28.9 MIR99A MIR96 MIR497 MIR199B MIR199A1 MIR198
11 prss1-related hereditary pancreatitis 12.2
12 hantavirus pulmonary syndrome 12.2
13 hermansky-pudlak syndrome 12.1
14 aceruloplasminemia 12.0
15 cleft palate, isolated 12.0
16 extrinsic allergic alveolitis 11.7
17 cerebral palsy 11.7
18 hemophagocytic lymphohistiocytosis 11.7
19 hepatopulmonary syndrome 11.6
20 malaria 11.5
21 hemangiopericytoma, malignant 11.5
22 nutritional deficiency disease 11.4
23 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.4
24 trypanosomiasis 11.4
25 hermansky-pudlak syndrome 2 11.3
26 leukemia, chronic myeloid 11.3
27 cleft lip 11.3
28 central pain syndrome 11.3
29 endometritis 11.3
30 hermansky-pudlak syndrome 7 11.3
31 anhaptoglobinemia 11.3
32 van der woude syndrome 1 11.2
33 cerebral palsy, ataxic, autosomal recessive 11.2
34 wilson disease 11.2
35 deficiency anemia 11.2
36 hemosiderosis 11.2
37 retinal degeneration 11.2
38 hemochromatosis, type 1 11.2
39 menkes disease 11.2
40 asthma 11.2
41 diabetes mellitus 11.2
42 liver disease 11.2
43 pneumoconiosis 11.2
44 plasmodium falciparum malaria 11.2
45 crohn's disease 11.1
46 paroxysmal nocturnal hemoglobinuria 11.1
47 heart disease 11.1
48 hellp syndrome 11.1
49 pulmonary tuberculosis 11.1
50 hemoglobinuria 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

About this section

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Pancreatitis, Hereditary:

59 32 (show all 16)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
2 abdominal pain 59 32 hallmark (90%) Very frequent (99-80%) HP:0002027
3 jaundice 59 32 occasional (7.5%) Occasional (29-5%) HP:0000952
4 leukocytosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0001974
5 elevated c-reactive protein level 59 32 hallmark (90%) Very frequent (99-80%) HP:0011227
6 pancreatic calcification 59 32 occasional (7.5%) Occasional (29-5%) HP:0005213
7 recurrent pancreatitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100027
8 abnormal enzyme/coenzyme activity 59 32 frequent (33%) Frequent (79-30%) HP:0012379
9 splanchnic vein thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0030247
10 fever 32 HP:0001945
11 abnormal thrombosis 32 HP:0001977
12 exocrine pancreatic insufficiency 32 HP:0001738
13 pancreatitis 32 HP:0001733
14 pleural effusion 32 HP:0002202
15 steatorrhea 32 HP:0002570
16 pancreatic pseudocyst 32 HP:0005206
Sources

Drugs & Therapeutics for Pancreatitis, Hereditary

About this section

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

(show all 32)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Selenium Approved, Investigational, Vet_approved Phase 3 7782-49-2
2
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
3
Tocopherol Approved, Investigational Phase 3 1406-66-2 14986
4
Beta carotene Approved, Nutraceutical Phase 3 7235-40-7
5
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
6
Vitamin C Approved, Nutraceutical Phase 3 50-81-7 5785 54670067
7
Methionine Approved, Nutraceutical Phase 3 63-68-3 6137
8 Tocotrienol Investigational Phase 3 6829-55-6
9 Protective Agents Phase 3
10 Aspartic Acid Phase 3
11 Micronutrients Phase 3
12 Tocotrienols Phase 3
13 Antioxidants Phase 3
14 Carotenoids Phase 3
15 Trace Elements Phase 3
16 Vitamins Phase 3
17 N-Methylaspartate Phase 3
18 Provitamins Phase 3
19 Tocopherols Phase 3
20
Amlodipine Approved Phase 1, Phase 2 88150-42-9 2162
21 Calcium, Dietary Phase 1, Phase 2
22 Vasodilator Agents Phase 1, Phase 2
23 calcium channel blockers Phase 1, Phase 2
24 Antihypertensive Agents Phase 1, Phase 2
25
Pancrelipase Approved, Investigational 53608-75-6
26
Secretin Approved 108153-74-8
27
Serine Approved, Nutraceutical 56-45-1 5951
28 Gastrointestinal Agents
29 pancreatin
30 Hormones
31 Hormone Antagonists
32 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 Genetic Linkage Study for Hereditary Pancreatitis Recruiting 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 Not Applicable
9 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Enrolling by invitation NCT02703545

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 29 CFTR CTRC PRSS1 PRSS2 SPINK1
2 Pancreatitis, Chronic, Susceptibility to 29
3 Chronic Pancreatitis 29
Sources

Anatomical Context for Pancreatitis, Hereditary

About this section

MalaCards organs/tissues related to Pancreatitis, Hereditary:

41
Pancreas, Testes, Bone, Brain, Liver, Pancreatic Islet, Lymph Node
Sources

Publications for Pancreatitis, Hereditary

About this section

Articles related to Pancreatitis, Hereditary:

(show top 50) (show all 217)
# Title Authors Year
1
Hereditary Pancreatitis in the United States: Survival and Rates of Pancreatic Cancer. ( 30018304 )
2018
2
Hereditary Pancreatitis Showing Numerous Cysts with Pancreatic Cancer. ( 29984748 )
2018
3
EUS-guided pancreaticogastrostomy and transgastric per-oral pancreatoscopy with electrohydraulic lithotripsy in a patient with chronic hereditary pancreatitis and several intraductal stones. ( 30128402 )
2018
4
Hereditary pancreatitis in Paediatrics: the causative role of p.Leu104Pro mutation of cationic trypsinogen gene also in young subjects. ( 29666173 )
2018
5
Age and Disease Duration Impact Outcomes of Total Pancreatectomy and Islet Autotransplant for PRSS1 Hereditary Pancreatitis. ( 29517634 )
2018
6
Nationwide survey of hereditary pancreatitis in Japan. ( 28861620 )
2018
7
Clinical aspects of pancreatogenic diabetes secondary to hereditary pancreatitis. ( 28101143 )
2017
8
Misfolding cationic trypsinogen variant p.L104P causes hereditary pancreatitis. ( 28011893 )
2017
9
Specific Radiological Imaging Findings in Patients With Hereditary Pancreatitis During a Long Follow-up of Disease. ( 28129231 )
2017
10
A novel p.Ser282Pro CPA1 variant is associated with autosomal dominant hereditary pancreatitis. ( 28258133 )
2017
11
Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis. ( 27129265 )
2016
12
Hereditary Pancreatitis. ( 26878183 )
2016
13
The clinical course of hereditary pancreatitis in children - A comprehensive analysis of 41 cases. ( 27179762 )
2016
14
Hereditary pancreatitis: current perspectives. ( 27555793 )
2016
15
Hereditary pancreatitis of 3 Chinese children: Case report and literature review. ( 27603351 )
2016
16
Therapeutic step-up strategy for management of hereditary pancreatitis in children. ( 25840052 )
2015
17
Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study. ( 26376395 )
2015
18
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
19
The histopathology of PRSS1 hereditary pancreatitis. ( 24525505 )
2014
20
Pancreatic cancer risk in hereditary pancreatitis. ( 24600409 )
2014
21
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. ( 24780743 )
2014
22
Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis. ( 25058887 )
2014
23
Endoscopic Therapy for Complete Pancreatic Ductal Obstruction in A Child With Hereditary Pancreatitis. ( 24590217 )
2014
24
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. ( 23601753 )
2013
25
Hereditary pancreatitis for the endoscopist. ( 23503650 )
2013
26
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene. ( 24134754 )
2013
27
Hereditary pancreatitis: endoscopic and surgical management. ( 23435738 )
2013
28
Hereditary Pancreatitis: Dilemmas in Differential Diagnosis and Therapeutic Approach. ( 24242859 )
2013
29
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. ( 22539344 )
2012
30
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. ( 22572128 )
2012
31
An overview of hereditary pancreatitis. ( 21907651 )
2012
32
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. ( 21110969 )
2011
33
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. ( 21499207 )
2011
34
Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis. ( 19765677 )
2010
35
Outcomes of interventional ERCP in hereditary pancreatitis. ( 19713862 )
2010
36
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. ( 20502448 )
2010
37
Managing complications of hereditary pancreatitis: all roads lead to ERCP. ( 19834339 )
2010
38
Hereditary pancreatitis. ( 20697897 )
2010
39
Splenic pseudoaneurysm in a child with hereditary pancreatitis. ( 20386320 )
2010
40
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations. ( 20452997 )
2010
41
The natural history of hereditary pancreatitis: a national series. ( 18755888 )
2009
42
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. ( 19454815 )
2009
43
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. ( 19191323 )
2009
44
[Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain]. ( 19857283 )
2009
45
Hereditary pancreatitis model WBN/Kob rat strain has a unique haplotype in the Pdwk1 region on chromosome 7. ( 19654439 )
2009
46
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
47
Comments on hereditary pancreatitis. ( 19592702 )
2009
48
Mortality rate and risk factors in patients with hereditary pancreatitis: uni- and multidimensional analyses. ( 19550412 )
2009
49
Hereditary pancreatitis in children: surgical implications with special regard to genetic background. ( 19944211 )
2009
50
[Hereditary pancreatitis in a child]. ( 19686634 )
2009
Sources

Variations for Pancreatitis, Hereditary

About this section

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

75 (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 483)
# 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.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh37 Chromosome 7, 117199644: 117199646
4 CFTR NM_000492.3(CFTR): c.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh38 Chromosome 7, 117559590: 117559592
5 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh37 Chromosome 7, 117171029: 117171029
6 CFTR NM_000492.3(CFTR): c.350G> A (p.Arg117His) single nucleotide variant Pathogenic rs78655421 GRCh38 Chromosome 7, 117530975: 117530975
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.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
10 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh38 Chromosome 7, 117587806: 117587806
11 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
12 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh38 Chromosome 7, 117587811: 117587811
13 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh37 Chromosome 7, 117227883: 117227883
14 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh38 Chromosome 7, 117587829: 117587829
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.3197G> A (p.Arg1066His) single nucleotide variant Pathogenic rs121909019 GRCh37 Chromosome 7, 117251692: 117251692
22 CFTR NM_000492.3(CFTR): c.3197G> A (p.Arg1066His) single nucleotide variant Pathogenic rs121909019 GRCh38 Chromosome 7, 117611638: 117611638
23 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs121908744 GRCh37 Chromosome 7, 117180232: 117180232
24 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs121908744 GRCh38 Chromosome 7, 117540178: 117540178
25 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh37 Chromosome 7, 117282582: 117282582
26 CFTR NM_000492.3(CFTR): c.3808G> A (p.Asp1270Asn) single nucleotide variant drug response rs11971167 GRCh38 Chromosome 7, 117642528: 117642528
27 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh37 Chromosome 7, 117230454: 117230454
28 CFTR NM_000492.3(CFTR): c.1727G> C (p.Gly576Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs1800098 GRCh38 Chromosome 7, 117590400: 117590400
29 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
30 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh38 Chromosome 7, 117639961: 117639961
31 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh37 Chromosome 7, 117199563: 117199563
32 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh38 Chromosome 7, 117559509: 117559509
33 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
34 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic,drug response rs121908752 GRCh38 Chromosome 7, 117535285: 117535285
35 CFTR NM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro) single nucleotide variant Pathogenic rs121909036 GRCh37 Chromosome 7, 117251689: 117251689
36 CFTR NM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro) single nucleotide variant Pathogenic rs121909036 GRCh38 Chromosome 7, 117611635: 117611635
37 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh37 Chromosome 7, 117250575: 117250575
38 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh38 Chromosome 7, 117610521: 117610521
39 CFTR NM_000492.3(CFTR): c.19G> T (p.Glu7Ter) single nucleotide variant Pathogenic rs121909045 GRCh37 Chromosome 7, 117120167: 117120167
40 CFTR NM_000492.3(CFTR): c.19G> T (p.Glu7Ter) single nucleotide variant Pathogenic rs121909045 GRCh38 Chromosome 7, 117480113: 117480113
41 CFTR NM_000492.3(CFTR): c.4056G> C (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh37 Chromosome 7, 117304834: 117304834
42 CFTR NM_000492.3(CFTR): c.4056G> C (p.Gln1352His) single nucleotide variant Conflicting interpretations of pathogenicity rs113857788 GRCh38 Chromosome 7, 117664780: 117664780
43 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh37 Chromosome 7, 142481892: 142481892
44 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh38 Chromosome 7, 142774035: 142774035
45 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh37 Chromosome 7, 977079: 977079
46 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh37 Chromosome 1, 15772212: 15772212
47 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh38 Chromosome 1, 15445717: 15445717
48 CTRC CTRC, 24-BP DEL, NT738 deletion risk factor
49 CTRC NM_007272.2(CTRC): c.164G> A (p.Trp55Ter) single nucleotide variant Pathogenic,risk factor rs121909294 GRCh37 Chromosome 1, 15767020: 15767020
50 CTRC NM_007272.2(CTRC): c.164G> A (p.Trp55Ter) single nucleotide variant Pathogenic,risk factor rs121909294 GRCh38 Chromosome 1, 15440524: 15440524

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:

37
# 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 37
11.84 MIR10B MIR126 MIR128-2 MIR195 MIR199A1 MIR199A2
2
Pancreatic secretion 37
11.31 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 66
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 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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