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MCID: PNC108
MIFTS: 59

Pancreatitis, Hereditary

Categories: Genetic diseases, Rare diseases, Gastrointestinal diseases, Endocrine diseases, Bone diseases, Immune 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
Hps 3
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 tropical calcific pancreatitis 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 Selenium have been mentioned in the context of this disorder. Affiliated tissues include pancreas and testes, and related phenotypes are leukocytosis and abdominal pain

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

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

Genetics Home Reference : 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.

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

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Diseases in the Pancreatitis family:

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

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

(show top 50) (show all 161)
# Related Disease Score Top Affiliating Genes
1 tropical calcific pancreatitis 33.6 CTRC PRSS1 PRSS2 SPINK1
2 pancreatitis 30.6 CFTR CTRC PRSS1 PRSS2 SPINK1
3 pancreatic cancer 28.8 MIR10B MIR125A MIR125B1 MIR199A1 MIR96 PRSS1
4 prostate cancer 28.2 MIR10B MIR125A MIR126 MIR195 MIR199A1 MIR199B
5 lung cancer 27.5 MIR125A MIR125B2 MIR126 MIR195 MIR199A1 MIR199B
6 colorectal cancer 27.4 MIR10B MIR125A MIR126 MIR195 MIR339 MIR497
7 hantavirus pulmonary syndrome 12.0
8 prss1-related hereditary pancreatitis 12.0
9 aceruloplasminemia 11.9
10 hermansky-pudlak syndrome 11.8
11 cleft palate, isolated 11.8
12 extrinsic allergic alveolitis 11.6
13 cerebral palsy 11.5
14 hepatopulmonary syndrome 11.4
15 malaria 11.4
16 pulmonary tuberculosis 11.3
17 carbamoyl phosphate synthetase i deficiency, hyperammonemia due to 11.2
18 trypanosomiasis 11.2
19 hermansky-pudlak syndrome 2 11.2
20 anhaptoglobinemia 11.1
21 central pain syndrome 11.1
22 van der woude syndrome 1 11.1
23 cerebral palsy, ataxic, autosomal recessive 11.1
24 wilson disease 11.0
25 liver disease 11.0
26 hemosiderosis 11.0
27 retinal degeneration 11.0
28 plasmodium falciparum malaria 11.0
29 hemangiopericytoma, malignant 11.0
30 crohn's disease 11.0
31 paroxysmal nocturnal hemoglobinuria 11.0
32 hellp syndrome 11.0
33 hemoglobinuria 11.0
34 hermansky-pudlak syndrome 1 10.9
35 hermansky-pudlak syndrome 5 10.9
36 anemia, autoimmune hemolytic 10.9
37 hemochromatosis, type 1 10.9
38 anemia, nonspherocytic hemolytic, due to g6pd deficiency 10.9
39 alpha-thalassemia 10.9
40 congenital disorder of glycosylation, type in 10.9
41 coronary artery anomaly 10.9
42 hemolytic anemia 10.9
43 sleeping sickness 10.9
44 mastitis 10.9
45 methemoglobinemia 10.9
46 bronchopneumonia 10.9
47 dysentery 10.9
48 guillain-barre syndrome 10.9
49 nutmeg liver 10.9
50 urinary schistosomiasis 10.9

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


Active Peptic Ulcer Disease Acute Cystitis
Acute Pancreatitis Alcohol Abuse
Cholangitis Cholestasis
Chronic Kidney Failure Chronic Myocardial Ischemia
Chylomicron Retention Disease Deficiency Anemia
Esophagitis Heart Disease
Hypertension, Essential Intestinal Obstruction
Ischemic Heart Disease Pancreatic Cancer
Paralytic Ileus Protein-Energy Malnutrition

Graphical network of the top 20 diseases related to Pancreatitis, Hereditary:



Diseases related to Pancreatitis, Hereditary
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

GI:
pancreatitis
steatorrhea
pancreatic calcification
pancreatic insufficiency
severe abdominal pain attacks
more
Pulmonary:
hemorrhagic pleural effusion

Lab:
urinary excretion of lysine and cystine
marked elevation of serum amylase with attacks


Clinical features from OMIM:

167800

Human phenotypes related to Pancreatitis, Hereditary:

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

Drugs & Therapeutics for Pancreatitis, Hereditary

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

(show all 31)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Midazolam Approved, Illicit Phase 2, Phase 3 59467-70-8 4192
2
Selenium Approved, Investigational, Vet_approved Phase 2, Phase 3 7782-49-2
3
Beta carotene Approved, Nutraceutical Phase 2, Phase 3 7235-40-7
4
Methionine Approved, Nutraceutical Phase 2, Phase 3 63-68-3 6137
5
Tocopherol Approved, Investigational, Nutraceutical Phase 2, Phase 3 1406-66-2 14986
6
Vitamin C Approved, Nutraceutical Phase 2, Phase 3,Phase 3 50-81-7 5785 54670067
7
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2, Phase 3,Phase 3 59-02-9 14985
8 Antioxidants Phase 2, Phase 3
9 Carotenoids Phase 2, Phase 3
10 Micronutrients Phase 2, Phase 3
11 N-Methylaspartate Phase 2, Phase 3
12 Protective Agents Phase 2, Phase 3
13 Tocopherols Phase 2, Phase 3
14 Tocotrienols Phase 2, Phase 3
15 Trace Elements Phase 2, Phase 3
16 Vitamins Phase 2, Phase 3
17 Aspartic Acid Nutraceutical Phase 2, Phase 3
18 Tocotrienol Investigational, Nutraceutical Phase 2, Phase 3 6829-55-6
19
Amlodipine Approved Phase 1, Phase 2 88150-42-9 2162
20 Antihypertensive Agents Phase 1, Phase 2
21 calcium channel blockers Phase 1, Phase 2
22 Calcium, Dietary Phase 1, Phase 2
23 Vasodilator Agents Phase 1, Phase 2
24
Pancrelipase Approved, Investigational 53608-75-6
25
Secretin Approved, Investigational 108153-74-8
26
Serine Approved, Nutraceutical 56-45-1 5951
27 Gastrointestinal Agents
28 pancreatin
29 Hormone Antagonists
30 Hormones
31 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 Unknown status NCT00142233 Phase 2, Phase 3 Magnesium (15 mmol/d);ANTOX (vers.) 1.2 (300 µg organic selenium, 54000 IU beta carotene, 750 mg vitamin C, 540 IU vitamin E, 2700 mg methionine)
2 A Pilot Study of Use of Calcium Channel Blocker to Decrease Inflammation and Pain in Hereditary Pancreatitis Completed NCT00156403 Phase 1, Phase 2 amlodipine (drug)
3 Genetic Linkage Study for Hereditary Pancreatitis 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

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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
Sources

Publications for Pancreatitis, Hereditary

About this section

Articles related to Pancreatitis, Hereditary:

(show top 50) (show all 206)
# Title Authors Year
1
Hereditary pancreatic cancer: related syndromes and clinical perspective. ( 28670351 )
2017
2
Clinical aspects of pancreatogenic diabetes secondary to hereditary pancreatitis. ( 28101143 )
2017
3
Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis. ( 27129265 )
2016
4
Diagnosis and Management of Hereditary Pancreatic Cancer. ( 27075349 )
2016
5
Therapeutic step-up strategy for management of hereditary pancreatitis in children. ( 25840052 )
2015
6
Hereditary Pancreatitis Associated With the N29T Mutation of the PRSS1 Gene in a Brazilian Family: A Case-Control Study. ( 26376395 )
2015
7
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
8
The histopathology of PRSS1 hereditary pancreatitis. ( 24525505 )
2014
9
Pancreatic cancer risk in hereditary pancreatitis. ( 24600409 )
2014
10
The PRSS1 c.623G>C (p.G208A) mutation is the most common PRSS1 mutation in Korean children with hereditary pancreatitis. ( 24780743 )
2014
11
Clinical Features and Endoscopic Treatment of Chinese Patients With Hereditary Pancreatitis. ( 25058887 )
2014
12
Endoscopic Therapy for Complete Pancreatic Ductal Obstruction in A Child With Hereditary Pancreatitis. ( 24590217 )
2014
13
Robust autoactivation, chymotrypsin C independence and diminished secretion define a subset of hereditary pancreatitis-associated cationic trypsinogen mutants. ( 23601753 )
2013
14
Hereditary pancreatitis for the endoscopist. ( 23503650 )
2013
15
Childhood-onset hereditary pancreatitis with mutations in the CT gene and SPINK1 gene. ( 24134754 )
2013
16
Hereditary pancreatitis: endoscopic and surgical management. ( 23435738 )
2013
17
Hereditary Pancreatitis: Dilemmas in Differential Diagnosis and Therapeutic Approach. ( 24242859 )
2013
18
Increased activation of hereditary pancreatitis-associated human cationic trypsinogen mutants in presence of chymotrypsin C. ( 22539344 )
2012
19
Whole exome sequencing identifies multiple, complex etiologies in an idiopathic hereditary pancreatitis kindred. ( 22572128 )
2012
20
An overview of hereditary pancreatitis. ( 21907651 )
2012
21
ATM mutations in patients with hereditary pancreatic cancer. ( 22585167 )
2012
22
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. ( 21110969 )
2011
23
Intragenic duplication: a novel mutational mechanism in hereditary pancreatitis. ( 21499207 )
2011
24
Pathology analysis reveals that dysplastic pancreatic ductal lesions are frequent in patients with hereditary pancreatitis. ( 19765677 )
2010
25
Outcomes of interventional ERCP in hereditary pancreatitis. ( 19713862 )
2010
26
Genetic, epidemiological, and clinical aspects of hereditary pancreatitis: a population-based cohort study in Denmark. ( 20502448 )
2010
27
Managing complications of hereditary pancreatitis: all roads lead to ERCP. ( 19834339 )
2010
28
Hereditary pancreatitis. ( 20697897 )
2010
29
Splenic pseudoaneurysm in a child with hereditary pancreatitis. ( 20386320 )
2010
30
Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations. ( 20452997 )
2010
31
The natural history of hereditary pancreatitis: a national series. ( 18755888 )
2009
32
Hereditary pancreatitis: clinical features and inheritance characteristics of the R122C mutation in the cationic trypsinogen gene (PRSS1) in six Spanish families. ( 19454815 )
2009
33
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. ( 19191323 )
2009
34
[Dutch patients with hereditary pancreatitis; high mutation frequency, relatively little pain]. ( 19857283 )
2009
35
Polymorphic variants in hereditary pancreatic cancer genes are not associated with pancreatic cancer risk. ( 19690177 )
2009
36
Hereditary pancreatitis model WBN/Kob rat strain has a unique haplotype in the Pdwk1 region on chromosome 7. ( 19654439 )
2009
37
Chronic hereditary pancreatitis in a girl with a serine protease inhibitor kazal type I (SPINK-1) gene mutation and a coxsackie type B5 infection. ( 19106771 )
2009
38
Comments on hereditary pancreatitis. ( 19592702 )
2009
39
Mortality rate and risk factors in patients with hereditary pancreatitis: uni- and multidimensional analyses. ( 19550412 )
2009
40
Hereditary pancreatitis in children: surgical implications with special regard to genetic background. ( 19944211 )
2009
41
[Hereditary pancreatitis in a child]. ( 19686634 )
2009
42
Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany. ( 18702646 )
2008
43
Novel mutation and polymorphism of PRSS1 gene in the Chinese patients with hereditary pancreatitis and chronic pancreatitis. ( 18272034 )
2008
44
A novel A121T mutation in human cationic trypsinogen associated with hereditary pancreatitis: functional data indicating a loss-of-function mutation influencing the R122 trypsin cleavage site. ( 18511571 )
2008
45
Risk of pancreatic adenocarcinoma in patients with hereditary pancreatitis: a national exhaustive series. ( 18184119 )
2008
46
Hereditary pancreatitis caused by a double gain-of-function trypsinogen mutation. ( 18461367 )
2008
47
Hereditary pancreatitis amlodipine trial: a pilot study of a calcium-channel blocker in hereditary pancreatitis. ( 18090235 )
2007
48
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. ( 17274009 )
2007
49
Screening for human cationic trypsinogen (PRSS1) and trypsinogen inhibitor gene (SPINK1) mutations in a Finnish family with hereditary pancreatitis. ( 17613931 )
2007
50
[Three cases of hereditary pancreatitis in two households in the same family associated with R122H mutation in cationic trypsinogen gene]. ( 17641559 )
2007
Sources

Variations for Pancreatitis, Hereditary

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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 360)
# 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.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
26 CFTR NM_000492.3(CFTR): c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh38 Chromosome 7, 117639961: 117639961
27 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh37 Chromosome 7, 117199563: 117199563
28 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic/Likely pathogenic rs79282516 GRCh38 Chromosome 7, 117559509: 117559509
29 CFTR NM_000492.3(CFTR): c.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh37 Chromosome 7, 117188683: 117188689
30 CFTR NM_000492.3(CFTR): c.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh38 Chromosome 7, 117548629: 117548635
31 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
32 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic rs121908752 GRCh38 Chromosome 7, 117535285: 117535285
33 CFTR NM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro) single nucleotide variant Pathogenic rs121909036 GRCh37 Chromosome 7, 117251689: 117251689
34 CFTR NM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro) single nucleotide variant Pathogenic rs121909036 GRCh38 Chromosome 7, 117611635: 117611635
35 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh37 Chromosome 7, 117250575: 117250575
36 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh38 Chromosome 7, 117610521: 117610521
37 CFTR NM_000492.3(CFTR): c.19G> T (p.Glu7Ter) single nucleotide variant Pathogenic rs121909045 GRCh37 Chromosome 7, 117120167: 117120167
38 CFTR NM_000492.3(CFTR): c.19G> T (p.Glu7Ter) single nucleotide variant Pathogenic rs121909045 GRCh38 Chromosome 7, 117480113: 117480113
39 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh37 Chromosome 7, 142481892: 142481892
40 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh38 Chromosome 7, 142774035: 142774035
41 PRSS2 NM_002770.3(PRSS2): c.571G> A (p.Gly191Arg) single nucleotide variant protective rs61734659 GRCh37 Chromosome 7, 977079: 977079
42 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh37 Chromosome 1, 15772212: 15772212
43 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh38 Chromosome 1, 15445717: 15445717
44 CTRC CTRC, 24-BP DEL, NT738 deletion risk factor
45 CTRC NM_007272.2(CTRC): c.164G> A (p.Trp55Ter) single nucleotide variant Pathogenic,risk factor rs121909294 GRCh37 Chromosome 1, 15767020: 15767020
46 CTRC NM_007272.2(CTRC): c.164G> A (p.Trp55Ter) single nucleotide variant Pathogenic,risk factor rs121909294 GRCh38 Chromosome 1, 15440524: 15440524
47 PRSS1 NM_002769.4(PRSS1): c.365G> A (p.Arg122His) single nucleotide variant Pathogenic rs111033565 GRCh37 Chromosome 7, 142459789: 142459789
48 PRSS1 NM_002769.4(PRSS1): c.365G> A (p.Arg122His) single nucleotide variant Pathogenic rs111033565 GRCh38 Chromosome 7, 142751938: 142751938
49 PRSS1 NM_002769.4(PRSS1): c.86A> T (p.Asn29Ile) single nucleotide variant Pathogenic rs111033566 GRCh37 Chromosome 7, 142458451: 142458451
50 PRSS1 NM_002769.4(PRSS1): c.86A> T (p.Asn29Ile) single nucleotide variant Pathogenic rs111033566 GRCh38 Chromosome 7, 142750600: 142750600

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
11.88 MIR10B MIR125A MIR125B1 MIR125B2 MIR126 MIR195
2
MicroRNAs in cardiomyocyte hypertrophy 1
Show member pathways
 11.7 MIR125B1 MIR125B2 MIR199A1
3
Pancreatic secretion 37
11.31 CFTR PRSS1 PRSS2
4
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 9.4 MIR10B MIR125A MIR125B1 MIR125B2 MIR126 MIR199A1

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.75 MIR126 MIR199A1 MIR199B
2 negative regulation of angiogenesis GO:0016525 9.69 MIR125A MIR125B1 MIR125B2
3 positive regulation of cardiac muscle cell proliferation GO:0060045 9.61 MIR199A1 MIR199B
4 regulation of angiogenesis GO:0045765 9.61 MIR199A1 MIR199B
5 digestion GO:0007586 9.6 PRSS1 PRSS2
6 positive regulation of cell migration involved in sprouting angiogenesis GO:0090050 9.59 MIR10B MIR126
7 negative regulation of cardiac muscle cell apoptotic process GO:0010667 9.58 MIR199A1 MIR199B
8 positive regulation of sprouting angiogenesis GO:1903672 9.57 MIR125A MIR126
9 sperm capacitation GO:0048240 9.56 CFTR SPINK1
10 cobalamin metabolic process GO:0009235 9.55 CTRC PRSS1
11 negative regulation of cardiac muscle cell proliferation GO:0060044 9.54 MIR199A1 MIR199B
12 negative regulation of cell migration involved in sprouting angiogenesis GO:0090051 9.54 MIR483 MIR494 MIR497
13 positive regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903589 9.52 MIR10B MIR126
14 cell growth involved in cardiac muscle cell development GO:0061049 9.49 MIR195 MIR199A1
15 positive regulation of connective tissue replacement GO:1905205 9.48 MIR195 MIR199A1
16 negative regulation of cell growth involved in cardiac muscle cell development GO:0061052 9.46 MIR199A1 MIR199B
17 re-entry into mitotic cell cycle GO:0000320 9.43 MIR199A1 MIR199B
18 positive regulation of vascular smooth muscle cell differentiation GO:1905065 9.4 MIR125B1 MIR125B2
19 negative regulation of blood vessel endothelial cell proliferation involved in sprouting angiogenesis GO:1903588 9.33 MIR483 MIR494 MIR497
20 positive regulation of cardiac muscle tissue regeneration GO:1905180 9.32 MIR199A1 MIR199B
21 gene silencing by miRNA GO:0035195 9.28 MIR10B MIR125A MIR126 MIR199A1 MIR199B MIR483
22 regulation of connective tissue replacement GO:1905203 9.26 MIR199A1 MIR199B
23 miRNA mediated inhibition of translation GO:0035278 9.26 MIR125B1 MIR125B2 MIR483 MIR96

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 9.36 MIR10B MIR125A MIR125B1 MIR125B2 MIR126 MIR199A1
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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