MCID: PNC108
MIFTS: 54

Pancreatitis, Hereditary malady

Genetic diseases, Rare diseases, Gastrointestinal diseases, Skin diseases, Endocrine diseases, Bone diseases, Immune diseases categories

Aliases & Classifications for Pancreatitis, Hereditary

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Sources:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 43Novoseek, 47Orphanet, 22GTR, 3CDC, 60UMLS, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Pancreatitis, Hereditary, Aliases & Descriptions:

Name: Pancreatitis, Hereditary 45 10
Hereditary Pancreatitis 41 20 21 60
Cytophagic Histiocytic Panniculitis 41 47 60
Autosomal Dominant Hereditary Pancreatitis 21 60
Winkelmann Cytophagic Panniculitis 41 47
Hereditary Chronic Pancreatitis 21 47
Pancreatitis Hereditary 43 22
Pancreatitis, Chronic 45 60
 
Chronic Pancreatitis 43 22
Chp 41 47
Pancreatitis, Chronic, Protection Against 45
Pancreatitis, Idiopathic 45
Familial Pancreatitis 21
Hantavirus Infections 60
Hps 3
Hp 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
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
cytophagic histiocytic panniculitis:
Prevalence: <1/1000000 (Worldwide)


External Ids:

OMIM45 167800
Orphanet47 676, 94087
ICD10 via Orphanet26 K86.1, M35.8
UMLS via Orphanet61 C0341474, C0406594

Summaries for Pancreatitis, Hereditary

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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, found in Asia, 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.

MalaCards based summary: Pancreatitis, Hereditary, also known as hereditary pancreatitis, is related to tropical calcific pancreatitis and alcoholic pancreatitis, and has symptoms including autosomal dominant inheritance, diabetes mellitus and pancreatitis. An important gene associated with Pancreatitis, Hereditary is SPINK1 (serine peptidase inhibitor, Kazal type 1), and among its related pathways are Matrix Metalloproteinases and Immune response Bacterial infections in normal airways. The compounds fluoride and aprotinin have been mentioned in the context of this disorder. Affiliated tissues include pancreas and skin, and related mouse phenotypes are digestive/alimentary and endocrine/exocrine gland.

Genetics Home Reference:21 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:63 Hereditary pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was... more...

Description from OMIM:45 167800

Related Diseases for Pancreatitis, Hereditary

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Diseases in the Pancreatitis family:

pancreatitis, hereditary Acute Pancreatitis
Prss1-Related Hereditary Pancreatitis Autoimmune Pancreatitis
Spink1-Related Hereditary Pancreatitis Ctrc-Related Hereditary Pancreatitis
Cftr-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 187)
idRelated DiseaseScoreTop Affiliating Genes
1tropical calcific pancreatitis30.8SPINK1
2alcoholic pancreatitis30.6CFTR, SPINK1
3steatorrhea30.4CFTR
4cystic fibrosis30.3SPINK1, CFTR, PRSS1
5recurrent acute pancreatitis30.3CFTR, SPINK1
6pancreatic cancer29.8BRCA2, SPINK1
7adenocarcinoma29.6SPINK1, BRCA2, PRSS1, REG1A, CTSB
8lung cancer29.4SPINK1, CFTR, BRCA2, CTSB
9acute pancreatitis29.2SPINK1, CFTR, PRSS2, REG1A, CTSB
10pancreatitis28.9CTSB, SPINK1, CTRC, REG1A, PRSS3, PRSS2
11panniculitis11.2
12hemophagocytic lymphohistiocytosis10.6
13systemic lupus erythematosus10.5
14histiocytosis10.5
15lupus erythematosus10.5
16hermansky-pudlak syndrome10.5
17anhaptoglobinemia10.5
18exocrine pancreatic insufficiency10.5
19hantavirus pulmonary syndrome10.5
20malignant histiocytosis10.4
21churg-strauss syndrome10.4
22influenza10.4
23lipodystrophy10.4
24lipomatosis10.4
25myopathy10.4
26ophthalmoplegia10.4
27lupus nephritis10.4
28macrophagic myofasciitis10.4
29subcutaneous panniculitis-like t-cell lymphoma10.4
30nephritis10.4
31inflammatory myopathy with abundant macrophages10.4
32malaria10.3
33prss1-related hereditary pancreatitis10.3
34coronary artery disease10.3
35artery disease10.3
36duodenal obstruction10.3
37alcoholic liver cirrhosis10.2
38choledochal cyst10.2
39favism10.2
40autoimmune hemolytic anemia10.2
41plasmodium falciparum malaria10.2
42hellp syndrome10.2
43hemoglobinuria10.2
44mastitis10.2
45cluster headache10.2
46headache10.2
47spink1-related hereditary pancreatitis10.2
48ctrc-related hereditary pancreatitis10.2
49cftr-related hereditary pancreatitis10.2
50multiple endocrine neoplasia iia10.2

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



Diseases related to pancreatitis, hereditary

Symptoms for Pancreatitis, Hereditary

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Symptoms by clinical synopsis from OMIM:

167800

Clinical features from OMIM:

167800

HPO human phenotypes related to Pancreatitis, Hereditary:

(show all 11)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 diabetes mellitus HP:0000819
3 pancreatitis HP:0001733
4 exocrine pancreatic insufficiency HP:0001738
5 fever HP:0001945
6 abnormal thrombosis HP:0001977
7 abdominal pain HP:0002027
8 pleural effusion HP:0002202
9 steatorrhea HP:0002570
10 pancreatic pseudocyst HP:0005206
11 pancreatic calcification HP:0005213

Drugs & Therapeutics for Pancreatitis, Hereditary

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Drug clinical trials:

Search ClinicalTrials for Pancreatitis, Hereditary

Search NIH Clinical Center for Pancreatitis, Hereditary

Genetic Tests for Pancreatitis, Hereditary

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Genetic tests related to Pancreatitis, Hereditary:

id Genetic test Affiliating Genes
1 Hereditary Pancreatitis20 22 SPINK1
2 Pancreatitis, Chronic, Susceptibility to22

Anatomical Context for Pancreatitis, Hereditary

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MalaCards organs/tissues related to Pancreatitis, Hereditary:

31
Pancreas, Skin

Animal Models for Pancreatitis, Hereditary or affiliated genes

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MGI Mouse Phenotypes related to Pancreatitis, Hereditary:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053818.7CTSB, BRCA2, CFTR, SPINK1
2MP:00053797.8CTSB, REG1A, BRCA2, CFTR, SPINK1

Publications for Pancreatitis, Hereditary

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Articles related to Pancreatitis, Hereditary:

idTitleAuthorsYear
1
An uncommon cause of acute pancreatitis. Hereditary angioedema-induced acute pancreatitis. (21110969)
2011

Variations for Pancreatitis, Hereditary

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

62 (show all 25)
id Symbol AA change Variation ID SNP ID
1CTRCp.Ala73ThrVAR_043520
2CTRCp.Gly217ArgVAR_043522
3CTRCp.Gly217SerVAR_043523rs202058123
4CTRCp.Val235IleVAR_043527rs140993290
5CTRCp.Pro249LeuVAR_043528rs142560329
6CTRCp.Arg254TrpVAR_043529rs121909293
7CTRCp.Gly32ValVAR_070522
8CTRCp.Cys155TyrVAR_070526
9CTRCp.Gln178ArgVAR_070528rs200678111
10CTRCp.Val250GluVAR_070538
11PRSS1p.Asn29IleVAR_006720
12PRSS1p.Arg122HisVAR_006721
13PRSS1p.Asp22GlyVAR_011652
14PRSS1p.Lys23ArgVAR_011653
15PRSS1p.Leu104ProVAR_011654
16PRSS1p.Arg116CysVAR_011655
17PRSS1p.Cys139PheVAR_011656
18PRSS1p.Ala16ValVAR_011693
19PRSS1p.Asn29ThrVAR_012712
20PRSS1p.Arg122CysVAR_012713
21PRSS1p.Asn54SerVAR_037908
22PRSS1p.Glu79LysVAR_037909rs28934902
23SPINK1p.Leu14ProVAR_011688
24SPINK1p.Asn34SerVAR_011689rs17107315
25SPINK1p.Leu12PheVAR_032011rs35877720

Clinvar genetic disease variations for Pancreatitis, Hereditary:

6 (show all 40)
id Gene Variation Type Significance SNP ID Assembly Location
1NM_002769.4(PRSS1): c.365G> A (p.Arg122His)single nucleotide variantPathogenicrs111033565GRCh37Chr 7, 142459789: 142459789
2NM_002769.4(PRSS1): c.86A> T (p.Asn29Ile)single nucleotide variantPathogenicrs111033566GRCh37Chr 7, 142458451: 142458451
3NM_002769.4(PRSS1): c.68A> G (p.Lys23Arg)single nucleotide variantPathogenicrs111033567GRCh37Chr 7, 142458433: 142458433
4PRSS1PRSS1, 3-BP DELdeletionPathogenic
5NM_002769.4(PRSS1): c.235G> A (p.Glu79Lys)single nucleotide variantPathogenicrs111033564GRCh37Chr 7, 142459659: 142459659
6NM_002769.4(PRSS1): c.161A> G (p.Asn54Ser)single nucleotide variantPathogenicrs144422014GRCh37Chr 7, 142458526: 142458526
7NM_002769.4(PRSS1): c.365_366delGCinsAT (p.Arg122His)indelPathogenicrs267606982GRCh37Chr 7, 142459789: 142459790
8NM_002769.4(PRSS1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs111033568GRCh37Chr 7, 142459788: 142459788
9PRSS1PRSS1, TRIPLICATIONundetermined variantPathogenic
10SPINK1SPINK1: c.194+2T> Csingle nucleotide variantPathogenicrs148954387GRCh38Chr 5, 147828020: 147828020
11SPINK1NM_003122.4(SPINK1): c.150T> G (p.Asp50Glu)single nucleotide variantPathogenicrs515726206GRCh38Chr 5, 147828066: 147828066
12SPINK1NM_003122.4(SPINK1): c.160T> C (p.Tyr54His)single nucleotide variantPathogenicrs515726207GRCh38Chr 5, 147828056: 147828056
13SPINK1NM_003122.4(SPINK1): c.199C> T (p.Arg67Cys)single nucleotide variantPathogenicrs515726208GRCh38Chr 5, 147824702: 147824702
14CFTRNM_000492.3(CFTR): c.54-5940_273+10250deldeletionPathogenicGRCh38Chr 7, 117498313: 117519392
15CFTRNM_000492.3(CFTR): c.3963-78_4242+577deldeletionPathogenicGRCh38Chr 7, 117652853: 117666141
16CTRCNM_007272.2(CTRC): c.217G> A (p.Ala73Thr)single nucleotide variantPathogenicrs515726209GRCh37Chr 1, 15767073: 15767073
17CTRCNM_007272.2(CTRC): c.738_761del24 (p.Lys247_Arg254del)deletionPathogenicrs515726210GRCh37Chr 1, 15772190: 15772213
18PRSS1NP_002760.1: p.Cys139Serprotein onlyPathogenic
19SPINK1NM_003122.4(SPINK1): c.101A> G (p.Asn34Ser)single nucleotide variantPathogenic, risk factorrs17107315GRCh37Chr 5, 147207678: 147207678
20SPINK1NM_003122.4(SPINK1): c.2T> C (p.Met1Thr)single nucleotide variantPathogenicrs104893938GRCh37Chr 5, 147211139: 147211139
21SPINK1SPINK1, -215G-Asingle nucleotide variantPathogenic
22SPINK1NM_003122.4(SPINK1): c.41T> C (p.Leu14Pro)single nucleotide variantPathogenicrs104893939GRCh37Chr 5, 147211100: 147211100
23SPINK1NM_003122.4(SPINK1): c.41T> G (p.Leu14Arg)single nucleotide variantPathogenicrs104893939GRCh37Chr 5, 147211100: 147211100
24SPINK1SPINK1, 1.3-KB DELdeletionPathogenic
25NM_002769.4(PRSS1): c.346C> T (p.Arg116Cys)single nucleotide variantPathogenicrs387906698GRCh37Chr 7, 142459770: 142459770
26NM_002769.4(PRSS1): c.389C> T (p.Thr130Ile)single nucleotide variantLikely pathogenicrs193922655GRCh37Chr 7, 142459813: 142459813
27NM_002769.4(PRSS1): c.398C> G (p.Pro133Arg)single nucleotide variantLikely pathogenicrs193922656GRCh37Chr 7, 142459822: 142459822
28SPINK1NM_003122.4(SPINK1): c.163C> T (p.Pro55Ser)single nucleotide variantPathogenicrs111966833GRCh37Chr 5, 147207616: 147207616
29SPINK1NM_003122.4(SPINK1): c.27delC (p.Ser10Valfs)deletionLikely pathogenic, Pathogenicrs193922659GRCh37Chr 5, 147211114: 147211114
30NM_002769.4(PRSS1): c.116T> C (p.Val39Ala)single nucleotide variantPathogenicrs397507439GRCh37Chr 7, 142458481: 142458481
31NM_002769.4(PRSS1): c.415T> A (p.Cys139Ser)single nucleotide variantPathogenicrs397507440GRCh37Chr 7, 142459839: 142459839
32NM_002769.4(PRSS1): c.47C> T (p.Ala16Val)single nucleotide variantPathogenicrs202003805GRCh37Chr 7, 142458412: 142458412
33NM_002769.4(PRSS1): c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle)duplicationPathogenicrs397507441GRCh37Chr 7, 142458428: 142458436
34NM_002769.4(PRSS1): c.65A> G (p.Asp22Gly)single nucleotide variantPathogenicrs397507442GRCh37Chr 7, 142458430: 142458430
35NM_002769.4(PRSS1): c.86A> C (p.Asn29Thr)single nucleotide variantPathogenicrs111033566GRCh37Chr 7, 142458451: 142458451
36CFTRNM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)deletionPathogenic, risk factorrs113993960GRCh37Chr 7, 117199646: 117199648
37CFTRNM_000492.3(CFTR): c.1624G> T (p.Gly542Ter)single nucleotide variantPathogenicrs113993959GRCh37Chr 7, 117227832: 117227832
38CFTRNM_000492.3(CFTR): c.1652G> A (p.Gly551Asp)single nucleotide variantPathogenicrs75527207GRCh37Chr 7, 117227860: 117227860
39CTRCNM_007272.2(CTRC): c.760C> T (p.Arg254Trp)single nucleotide variantPathogenic, risk factorrs121909293GRCh37Chr 1, 15772212: 15772212
40CTRCNM_007272.2(CTRC): c.164G> A (p.Trp55Ter)single nucleotide variantPathogenic, risk factorrs121909294GRCh37Chr 1, 15767020: 15767020

Expression for genes affiliated with Pancreatitis, Hereditary

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

Pathways for genes affiliated with Pancreatitis, Hereditary

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.7PRSS2, PRSS1
2
Show member pathways
Transcription NF kB signaling pathway58
Immune response Toll like receptor TLR ligands and common TLR signaling pathway leading to cell proinflammatory response58
9.6CFTR, CTSB
3
Show member pathways
flavin biosynthesis IV (mammalian)36
molybdenum cofactor biosynthesis36
coenzyme A biosynthesis36
thiamin salvage III36
alanine biosynthesis III36
thio-molybdenum cofactor biosynthesis36
biotin-carboxyl carrier protein assembly36
9.3PRSS1, PRSS3
4
Show member pathways
9.2PRSS2, PRSS3
5
Show member pathways
9.2CTSB, PRSS2, PRSS1
6
Show member pathways
8.9PRSS2, PRSS1, PRSS3
78.5PRSS3, PRSS2, PRSS1, CPA1
88.1PRSS3, PRSS2, PRSS1, CPA1, CFTR

Compounds for genes affiliated with Pancreatitis, Hereditary

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

(show all 14)
idCompoundScoreTop Affiliating Genes
1fluoride4310.0CFTR, SPINK1
2aprotinin43 1210.5CTSB, PRSS1
3mitomycin c439.5BRCA2, CFTR
4phenylalanine439.4CTSB, CPA1, CFTR
5chloroquine43 2 49 28 1213.3CTSB, CFTR
6paraffin439.1CFTR, BRCA2, CTSB
7genistein43 28 59 2 24 1214.1REG1A, BRCA2, CFTR
8cysteine439.1CFTR, PRSS1, PRSS2, CTSB
9glutamine439.1CFTR, BRCA2, CTSB
10cisplatin43 49 59 1212.0CFTR, BRCA2, CTSB
11thymidine43 249.9CTSB, REG1A, BRCA2
12calcium43 49 24 1210.5SPINK1, PRSS1, PRSS2, PRSS3, REG1A, CTRC
13serine437.1SPINK1, CFTR, PRSS1, PRSS2, PRSS3, REG1A
14trypsinogen436.5CTSB, SPINK1, CFTR, BRCA2, PRSS1, PRSS2

GO Terms for genes affiliated with Pancreatitis, Hereditary

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

idNameGO IDScoreTop Affiliating Genes
1extracellular spaceGO:00056158.3CTSB, PRSS3, PRSS2, CPA1
2extracellular regionGO:00055767.3CTSB, SPINK1, PRSS1, PRSS2, PRSS3, REG1A

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

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1collagen catabolic processGO:00305749.4PRSS2, CTSB
2cobalamin metabolic processGO:00092359.4PRSS1, PRSS3
3extracellular matrix disassemblyGO:00226179.3CTSB, PRSS2, PRSS1
4vitamin metabolic processGO:00067669.3PRSS3, PRSS1
5extracellular matrix organizationGO:00301989.2CTSB, PRSS2, PRSS1
6digestionGO:00075869.1PRSS1, PRSS2, PRSS3
7water-soluble vitamin metabolic processGO:00067679.0PRSS3, PRSS1
8proteolysisGO:00065088.1CTSB, CTRC, PRSS3, PRSS2, CPA1

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

idNameGO IDScoreTop Affiliating Genes
1peptidase activityGO:00082339.6CTSB, CTRC
2serine-type endopeptidase activityGO:00042528.3CTRC, PRSS3, PRSS2, PRSS1

Products for genes affiliated with Pancreatitis, Hereditary

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Sources for Pancreatitis, Hereditary

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet