MCID: PNC108
MIFTS: 57

Pancreatitis, Hereditary

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

Aliases & Classifications for Pancreatitis, Hereditary

MalaCards integrated aliases for Pancreatitis, Hereditary:

Name: Pancreatitis, Hereditary 54 71 13
Hereditary Pancreatitis 50 24 25 29 69
Chronic Pancreatitis 24 71 29 52
Hereditary Chronic Pancreatitis 50 25 56
Autosomal Dominant Hereditary Pancreatitis 25 69
Pancreatitis, Chronic, Protection Against 54 24
Pancreatitis, Chronic, Susceptibility to 24 29
Pancreatitis, Chronic 54 69
Pctt 24 71
Hp 25 71
Pancreatitis, Idiopathic 54
Pancreatitis Hereditary 52
Pancreatitis, Calcific 69
Calcific Pancreatitis 24
Familial Pancreatitis 25
Hps 3
Hpc 71
Cp 71

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal dominant


HPO:

32
pancreatitis, hereditary:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Pancreatitis, Hereditary

NIH Rare Diseases : 50 hereditary pancreatitis is a rare genetic condition that causes multiple episodes of pancreatitis. the first episode of pancreatitis usually occurs in late childhood. signs and symptoms may include stomach pain, fever, nausea, or vomiting. episodes often lasts from one to three days, but may be longer. repeat episodes of pancreatitis leads to chronic pancreatitis (a constantly inflamed pancreas), calcium deposits in the pancreas, and over years, pancreas scarring. at this stage signs and symptoms may include fatty stool, weight loss, and protein and vitamin deficiencies. people with hereditary pancreatitis are also at an increased risk for type 1 diabetes and pancreatic cancer, typically in adulthood. in most cases, hereditary pancreatitis is caused by mutations in the prss1 gene and passed through families in an autosomal dominant pattern. while there is not a cure for hereditary pancreatitis, treatments are available (visit the pancreas foundation to learn more about treatment). with treatment people with hereditary pancreatitis tend to have a normal life expectancy.  last updated: 1/20/2016

MalaCards based summary : Pancreatitis, Hereditary, also known as hereditary pancreatitis, is related to tropical calcific pancreatitis and prss1-related hereditary pancreatitis, and has symptoms including jaundice, abdominal pain and diabetes mellitus. An important gene associated with Pancreatitis, Hereditary is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways/superpathways are Metabolism of water-soluble vitamins and cofactors and Matrix Metalloproteinases. The drugs Midazolam and Selenium have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related phenotype is homeostasis/metabolism.

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

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

Genetics Home Reference : 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 : 72 Hereditary pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was... more...

Description from OMIM: 167800

Related Diseases for Pancreatitis, Hereditary

Diseases in the Pancreatitis family:

Pancreatitis, Hereditary Acute Pancreatitis
Prss1-Related Hereditary Pancreatitis Autoimmune Pancreatitis
Cftr-Related Hereditary Pancreatitis Ctrc-Related Hereditary Pancreatitis
Spink1-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 176)
id Related Disease Score Top Affiliating Genes
1 tropical calcific pancreatitis 25.8 ADH1B ADH1C APOC2 BRCA2 CASR CCK
2 prss1-related hereditary pancreatitis 11.9
3 hantavirus pulmonary syndrome 11.9
4 cftr-related hereditary pancreatitis 11.8
5 ctrc-related hereditary pancreatitis 11.8
6 spink1-related hereditary pancreatitis 11.8
7 pancreatic cancer 11.6
8 hermansky-pudlak syndrome 2 11.6
9 cerebellar ataxia 11.5
10 cerebral palsy 11.4
11 hermansky-pudlak syndrome 1 11.4
12 hermansky-pudlak syndrome 5 11.4
13 hermansky-pudlak syndrome 11.4
14 hermansky-pudlak syndrome 9 11.3
15 hermansky-pudlak syndrome 3 11.3
16 hermansky-pudlak syndrome 8 11.3
17 hermansky-pudlak syndrome 7 11.3
18 hermansky-pudlak syndrome 4 11.3
19 hermansky-pudlak syndrome 6 11.3
20 malaria 11.3
21 pulmonary tuberculosis 11.2
22 carbamoylphosphate synthetase i deficiency 11.1
23 trypanosomiasis 11.1
24 central pain syndrome 11.0
25 cerebral palsy, ataxic, autosomal recessive 11.0
26 liver disease 11.0
27 anhaptoglobinemia 11.0
28 plasmodium falciparum malaria 10.9
29 coronary artery disease 10.9
30 hemangiopericytoma, malignant 10.9
31 hellp syndrome 10.8
32 crohn's disease 10.8
33 hemoglobinuria 10.8
34 favism 10.8
35 hemochromatosis 10.8
36 paroxysmal nocturnal hemoglobinuria 10.8
37 artery disease 10.8
38 angioma serpiginosum 10.8 PRSS1 PRSS2
39 congenital disorder of glycosylation, type in 10.8
40 gilbert syndrome 10.8
41 ceroid lipofuscinosis, neuronal, 3 10.8
42 bilirubin metabolic disorder 10.8
43 demyelinating polyneuropathy 10.8
44 nutmeg liver 10.8
45 testicular yolk sac tumor 10.8
46 mastitis 10.8
47 urinary schistosomiasis 10.8
48 melancholia 10.8
49 methemoglobinemia 10.8
50 hemoglobinopathy 10.8

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


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

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



Diseases related to Pancreatitis, Hereditary

Symptoms & Phenotypes for Pancreatitis, Hereditary

Symptoms via clinical synopsis from OMIM:

54

GI:
pancreatitis
steatorrhea
severe abdominal pain attacks
pancreatic insufficiency
pancreatic calcification
more
Vascular:
portal or splenic vein thrombosis

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

Metabolic:
diabetes mellitus

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:

56 32 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 jaundice 56 32 occasional (7.5%) Occasional (29-5%) HP:0000952
2 abdominal pain 56 32 hallmark (90%) Very frequent (99-80%) HP:0002027
3 diabetes mellitus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000819
4 leukocytosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0001974
5 pancreatic calcification 56 32 occasional (7.5%) Occasional (29-5%) HP:0005213
6 elevated c-reactive protein level 56 32 hallmark (90%) Very frequent (99-80%) HP:0011227
7 recurrent pancreatitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100027
8 abnormal enzyme/coenzyme activity 56 32 frequent (33%) Frequent (79-30%) HP:0012379
9 splanchnic vein thrombosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0030247
10 pancreatitis 32 HP:0001733
11 fever 32 HP:0001945
12 pleural effusion 32 HP:0002202
13 steatorrhea 32 HP:0002570
14 exocrine pancreatic insufficiency 32 HP:0001738
15 abnormal thrombosis 32 HP:0001977
16 pancreatic pseudocyst 32 HP:0005206

MGI Mouse Phenotypes related to Pancreatitis, Hereditary:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.4 ELANE LPL PNLIP REG1A SPINK1 SST

Drugs & Therapeutics for Pancreatitis, Hereditary

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

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

Interventional clinical trials:

(show all 11)

id Name Status NCT ID Phase Drugs
1 EUROPAC-2 - Pain Treatment of Hereditary and Idiopathic Pancreatitis Unknown status NCT00142233 Phase 2, Phase 3 Magnesium (15 mmol/d);ANTOX (vers.) 1.2 (300 µg organic selenium, 54000 IU beta carotene, 750 mg vitamin C, 540 IU vitamin E, 2700 mg methionine)
2 A Pilot Study of Use of Calcium Channel Blocker to Decrease Inflammation and Pain in Hereditary Pancreatitis Completed NCT00156403 Phase 1, Phase 2 amlodipine (drug)
3 Genetic Linkage Study for Hereditary Pancreatitis Unknown status NCT00004475
4 Study to Re-assess and Re-confirm Data Previously Recorded About the Incidence and Severity of Acute Abdominal "Pancreatitis" Episodes in Lipoprotein Lipase Deficient (LPLD) Subjects Previously Enrolled on AMT Clinical Studies Unknown status NCT01448577
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
10 International CAPS Registry: Pancreas Cancer Cases in Surveillance Programs Enrolling by invitation NCT02703545
11 Searching the Best Prognostic Factor in Out Come Evaluation in Patients With Acute Pancreatitis Admitted at Assiut University Hospitals Not yet recruiting NCT03259880

Search NIH Clinical Center for Pancreatitis, Hereditary

Genetic Tests for Pancreatitis, Hereditary

Genetic tests related to Pancreatitis, Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Pancreatitis 29 24 SPINK1
2 Pancreatitis, Chronic, Susceptibility to 29
3 Chronic Pancreatitis 29
4 Pancreatitis, Chronic, Protection Against 24 PRSS2

Anatomical Context for Pancreatitis, Hereditary

MalaCards organs/tissues related to Pancreatitis, Hereditary:

39
Pancreas

Publications for Pancreatitis, Hereditary

Articles related to Pancreatitis, Hereditary:

id Title Authors Year
1
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. ( 21110969 )
2011
2
Gene symbol: PRSS1. Disease: Pancreatitis, hereditary. Accession #Hm0542. ( 17297697 )
2006

Variations for Pancreatitis, Hereditary

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

71 (show all 25)
id 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 87)
id 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.1519_1521delATC (p.Ile507del) deletion Pathogenic rs121908745 GRCh37 Chromosome 7, 117199644: 117199646
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.1624G> T (p.Gly542Ter) single nucleotide variant Pathogenic rs113993959 GRCh37 Chromosome 7, 117227832: 117227832
5 CFTR NM_000492.3(CFTR): c.1652G> A (p.Gly551Asp) single nucleotide variant Pathogenic rs75527207 GRCh37 Chromosome 7, 117227860: 117227860
6 CFTR NM_000492.3(CFTR): c.1657C> T (p.Arg553Ter) single nucleotide variant Pathogenic rs74597325 GRCh37 Chromosome 7, 117227865: 117227865
7 CFTR NM_000492.3(CFTR): c.1675G> A (p.Ala559Thr) single nucleotide variant Pathogenic rs75549581 GRCh37 Chromosome 7, 117227883: 117227883
8 CFTR NM_000492.3(CFTR): c.3846G> A (p.Trp1282Ter) single nucleotide variant Pathogenic rs77010898 GRCh37 Chromosome 7, 117282620: 117282620
9 CFTR NM_000492.3(CFTR): c.1021_1022dupTC (p.Phe342Hisfs) duplication Pathogenic rs387906360 GRCh37 Chromosome 7, 117180305: 117180306
10 CFTR NM_000492.3(CFTR): c.948delT (p.Phe316Leufs) deletion Pathogenic rs121908744 GRCh37 Chromosome 7, 117180232: 117180232
11 CFTR NM_000492.3: c.3718-2477C> T single nucleotide variant Pathogenic rs75039782 GRCh37 Chromosome 7, 117280015: 117280015
12 CFTR NM_000492.3(CFTR): c.1438G> T (p.Gly480Cys) single nucleotide variant Pathogenic rs79282516 GRCh37 Chromosome 7, 117199563: 117199563
13 CFTR NM_000492.3(CFTR): c.1210-12_1210-6T[5] short repeat risk factor rs727504486 GRCh37 Chromosome 7, 117188683: 117188689
14 CFTR NM_000492.3(CFTR): c.617T> G (p.Leu206Trp) single nucleotide variant Pathogenic rs121908752 GRCh37 Chromosome 7, 117175339: 117175339
15 CFTR NM_000492.3(CFTR): c.3194T> C (p.Leu1065Pro) single nucleotide variant Pathogenic rs121909036 GRCh37 Chromosome 7, 117251689: 117251689
16 CFTR NM_000492.3(CFTR): c.2991G> C (p.Leu997Phe) single nucleotide variant risk factor rs1800111 GRCh37 Chromosome 7, 117250575: 117250575
17 CFTR NM_000492.3(CFTR): c.19G> T (p.Glu7Ter) single nucleotide variant Pathogenic rs121909045 GRCh37 Chromosome 7, 117120167: 117120167
18 CTRC NM_007272.2(CTRC): c.760C> T (p.Arg254Trp) single nucleotide variant risk factor rs121909293 GRCh37 Chromosome 1, 15772212: 15772212
19 CTRC NM_007272.2(CTRC): c.164G> A (p.Trp55Ter) single nucleotide variant Pathogenic,risk factor rs121909294 GRCh37 Chromosome 1, 15767020: 15767020
20 PRSS1 NM_002769.4(PRSS1): c.365G> A (p.Arg122His) single nucleotide variant Pathogenic rs111033565 GRCh37 Chromosome 7, 142459789: 142459789
21 PRSS1 NM_002769.4(PRSS1): c.86A> T (p.Asn29Ile) single nucleotide variant Pathogenic rs111033566 GRCh37 Chromosome 7, 142458451: 142458451
22 PRSS1 NM_002769.4(PRSS1): c.68A> G (p.Lys23Arg) single nucleotide variant Pathogenic rs111033567 GRCh37 Chromosome 7, 142458433: 142458433
23 PRSS1 PRSS1, 3-BP DEL deletion Pathogenic
24 PRSS1 NM_002769.4(PRSS1): c.235G> A (p.Glu79Lys) single nucleotide variant Pathogenic rs111033564 GRCh37 Chromosome 7, 142459659: 142459659
25 PRSS1 NM_002769.4(PRSS1): c.161A> G (p.Asn54Ser) single nucleotide variant Pathogenic rs144422014 GRCh37 Chromosome 7, 142458526: 142458526
26 PRSS1 NM_002769.4(PRSS1): c.365_366delGCinsAT (p.Arg122His) indel Pathogenic rs267606982 GRCh37 Chromosome 7, 142459789: 142459790
27 PRSS1 NM_002769.4(PRSS1): c.364C> T (p.Arg122Cys) single nucleotide variant Pathogenic rs111033568 GRCh37 Chromosome 7, 142459788: 142459788
28 PRSS1 PRSS1, TRIPLICATION undetermined variant Pathogenic
29 SPINK1 NM_003122.4(SPINK1): c.101A> G (p.Asn34Ser) single nucleotide variant risk factor rs17107315 GRCh37 Chromosome 5, 147207678: 147207678
30 SPINK1 NM_003122.4(SPINK1): c.2T> C (p.Met1Thr) single nucleotide variant Pathogenic rs104893938 GRCh37 Chromosome 5, 147211139: 147211139
31 SPINK1 SPINK1, -215G-A single nucleotide variant Pathogenic
32 SPINK1 NM_003122.4(SPINK1): c.41T> C (p.Leu14Pro) single nucleotide variant Pathogenic rs104893939 GRCh37 Chromosome 5, 147211100: 147211100
33 SPINK1 NM_003122.4(SPINK1): c.41T> G (p.Leu14Arg) single nucleotide variant Pathogenic rs104893939 GRCh37 Chromosome 5, 147211100: 147211100
34 SPINK1 SPINK1, 1.3-KB DEL deletion Pathogenic
35 CFTR NM_000492.3(CFTR): c.2988+1G> A single nucleotide variant Pathogenic rs75096551 GRCh37 Chromosome 7, 117246808: 117246808
36 PRSS1 NM_002769.4(PRSS1): c.346C> T (p.Arg116Cys) single nucleotide variant Pathogenic rs387906698 GRCh37 Chromosome 7, 142459770: 142459770
37 CFTR NM_000492.3(CFTR): c.1865G> A (p.Gly622Asp) single nucleotide variant Pathogenic rs121908759 GRCh37 Chromosome 7, 117232086: 117232086
38 CFTR NM_000492.3(CFTR): c.2051_2052delAAinsG (p.Lys684Serfs) indel Pathogenic rs121908799 GRCh37 Chromosome 7, 117232272: 117232273
39 CFTR NM_000492.3(CFTR): c.2052dupA (p.Gln685Thrfs) duplication Pathogenic rs121908786 GRCh37 Chromosome 7, 117232273: 117232273
40 CFTR NM_000492.3(CFTR): c.2988G> A (p.Gln996=) single nucleotide variant Pathogenic rs121908797 GRCh37 Chromosome 7, 117246807: 117246807
41 CFTR NM_000492.3(CFTR): c.3209G> A (p.Arg1070Gln) single nucleotide variant Pathogenic/Likely pathogenic rs78769542 GRCh37 Chromosome 7, 117251704: 117251704
42 CFTR NM_000492.3(CFTR): c.3454G> C (p.Asp1152His) single nucleotide variant Pathogenic rs75541969 GRCh37 Chromosome 7, 117254753: 117254753
43 PRSS1 NM_002769.4(PRSS1): c.389C> T (p.Thr130Ile) single nucleotide variant Likely pathogenic rs193922655 GRCh37 Chromosome 7, 142459813: 142459813
44 PRSS1 NM_002769.4(PRSS1): c.398C> G (p.Pro133Arg) single nucleotide variant Likely pathogenic rs193922656 GRCh37 Chromosome 7, 142459822: 142459822
45 SPINK1 NM_003122.4(SPINK1): c.27delC (p.Ser10Valfs) deletion Pathogenic rs193922659 GRCh37 Chromosome 5, 147211114: 147211114
46 CFTR NM_000492.3(CFTR): c.3067_3072delATAGTG (p.Ile1023_Val1024del) deletion Pathogenic rs121908767 GRCh37 Chromosome 7, 117250651: 117250656
47 PRSS1 NM_002769.4(PRSS1): c.116T> C (p.Val39Ala) single nucleotide variant Pathogenic rs397507439 GRCh37 Chromosome 7, 142458481: 142458481
48 PRSS1 NM_002769.4(PRSS1): c.415T> A (p.Cys139Ser) single nucleotide variant Pathogenic rs397507440 GRCh37 Chromosome 7, 142459839: 142459839
49 PRSS1 NM_002769.4(PRSS1): c.47C> T (p.Ala16Val) single nucleotide variant Pathogenic rs202003805 GRCh37 Chromosome 7, 142458412: 142458412
50 PRSS1 NM_002769.4(PRSS1): c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle) duplication Pathogenic rs397507441 GRCh37 Chromosome 7, 142458428: 142458436

Copy number variations for Pancreatitis, Hereditary from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 220875 7 141580825 141583339 Copy number Chronic pancreatitis

Expression for Pancreatitis, Hereditary

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

Pathways for Pancreatitis, Hereditary

GO Terms for Pancreatitis, Hereditary

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

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.8 APOC2 CCK CPA1 CTRC ELANE LPL
2 extracellular space GO:0005615 9.4 APOC2 CCK CPA1 ELANE LPL MUC4
3 very-low-density lipoprotein particle GO:0034361 9.26 APOC2 LPL
4 chylomicron GO:0042627 9.16 APOC2 LPL

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

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

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

id Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.81 CFTR CPA1 CTRC ELANE LPL PNLIP
2 peptidase activity GO:0008233 9.73 CPA1 CTRC ELANE PRSS1 PRSS2 PRSS3
3 hormone activity GO:0005179 9.54 CCK SCT SST
4 triglyceride lipase activity GO:0004806 9.4 LPL PNLIP
5 serine-type endopeptidase activity GO:0004252 9.35 CTRC ELANE PRSS1 PRSS2 PRSS3
6 alcohol dehydrogenase activity, zinc-dependent GO:0004024 9.32 ADH1B ADH1C
7 serine-type peptidase activity GO:0008236 9.02 CTRC ELANE PRSS1 PRSS2 PRSS3

Sources for Pancreatitis, Hereditary

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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