HP
MCID: HRD057
MIFTS: 53

Hereditary Pancreatitis (HP) malady

Endocrine diseases, Genetic diseases categories

Summaries for Hereditary Pancreatitis

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3CDC, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Hereditary Pancreatitis, also known as autosomal dominant hereditary pancreatitis, is related to pancreatitis and pancreatic cancer. An important gene associated with Hereditary Pancreatitis is PRSS1 (protease, serine, 1 (trypsin 1)), and among its related pathways are Pancreatic secretion and Homologous recombination. The compounds 3-Phenylpropylamine and 2-Phenylethylamine have been mentioned in the context of this disorder. Affiliated tissues include pancreas, and related mouse phenotypes are endocrine/exocrine gland and mortality/aging.

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:46 167800

Aliases & Classifications for Hereditary Pancreatitis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 60UMLS, 46OMIM, 44Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases
Anatomical: Endocrine diseases


Aliases & Descriptions:

hereditary pancreatitis 42 20 22 21 60
autosomal dominant hereditary pancreatitis 21
hereditary chronic pancreatitis 21
pancreatitis, hereditary 46
pancreatitis hereditary 44
pancreatitis, calcific 60
familial pancreatitis 21
hp 21


Related Diseases for Hereditary Pancreatitis

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Hereditary Pancreatitis family:

Prss1-Related Hereditary Pancreatitis Spink1-Related Hereditary Pancreatitis
Ctrc-Related Hereditary Pancreatitis Cftr-Related Hereditary Pancreatitis

Diseases related to Hereditary Pancreatitis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 272)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis31.5SPINK1, PRSS1
2pancreatic cancer30.7FANCG, PRSS1, REG1A, CFTR, SPINK1
3acute pancreatitis30.3PRSS2, REG1A, CFTR, SPINK1
4cystic fibrosis30.2PRSS1, CFTR, SPINK1
5steatorrhea30.1CFTR
6pancreatitis, chronic30.1PRSS1, REG1A, CFTR, SPINK1
7alcoholic pancreatitis30.0SPINK1, CFTR
8ovarian cancer30.0FANCF, PALB2, SPINK1
9colorectal cancer30.0PRSS2, REG1A, SPINK1, GSTM3
10breast cancer30.0FANCG, FANCF, FANCE, FANCL, MDC1, TOPBP1
11cervical cancer29.9SPINK1
12pancreas disease29.8SPINK1, CFTR, REG1A
13squamous cell carcinoma of the head and neck29.6FANCL, FANCE, FANCF, FANCG
14hermansky-pudlak syndrome10.3
15hantavirus pulmonary syndrome10.3
16pancreatic carcinoma, familial10.2
17prss1-related hereditary pancreatitis10.2
18malaria10.2
19crohn's disease10.2
20pulmonary tuberculosis10.2
21plasmodium falciparum malaria10.2
22extrinsic allergic alveolitis10.2
23anhaptoglobinemia10.2
24type 1 diabetes10.2
25batten disease10.1
26tuberculosis10.1
27pancreatic steatorrhea10.1
28diabetic nephropathy10.1
29coronary artery disease10.1
30hellp syndrome10.1
31pure red-cell aplasia10.1
32evans' syndrome10.1
33neuromyelitis optica10.1
34favism10.1
35trachoma10.1
36congenital disorder of glycosylation type i10.1
37hemoglobinuria10.1
38hemochromatosis10.1
39hereditary elliptocytosis10.1
40alpha thalassemia10.1
41thrombotic thrombocytopenic purpura10.1
42priapism10.1
43autoimmune hemolytic anemia10.1
44herpes zoster10.1
45polymyalgia rheumatica10.1
46blackwater fever10.1
47acute poststreptococcal glomerulonephritis10.1
48sclerosing cholangitis10.1
49bronchopneumonia10.1
50scurvy10.1

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



Diseases related to hereditary pancreatitis

Clinical Features for Hereditary Pancreatitis

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Sources:
46OMIM
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Clinical features from OMIM:

167800

Drugs & Therapeutics for Hereditary Pancreatitis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Hereditary Pancreatitis

Drug clinical trials:

Search ClinicalTrials for Hereditary Pancreatitis

Search NIH Clinical Center for Hereditary Pancreatitis

Search CenterWatch for Hereditary Pancreatitis

Genetic Tests for Hereditary Pancreatitis

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20GeneTests, 22GTR
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Genetic tests related to Hereditary Pancreatitis:

id Genetic test Affiliating Genes
1 Hereditary Pancreatitis20 22 SPINK1

Anatomical Context for Hereditary Pancreatitis

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32MalaCards
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MalaCards organs/tissues related to Hereditary Pancreatitis:

32
Pancreas

Animal Models for Hereditary Pancreatitis or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hereditary Pancreatitis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053799.6SPINK1, FANCG, FANCL, FANCM, MDC1, USP1
2MP:00107689.4FANCM, MDC1, USP1, TOPBP1, RAD51D, RAD54B
3MP:00053899.4FANCG, FANCL, FANCM, MDC1, USP1, REG1A
4MP:00053849.3FANCG, FANCL, FANCM, MDC1, USP1, TOPBP1

Publications for Hereditary Pancreatitis

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Genetic Variations for Hereditary Pancreatitis

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hereditary Pancreatitis:

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

Expression for genes affiliated with Hereditary Pancreatitis

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hereditary Pancreatitis

Search GEO for disease gene expression data for Hereditary Pancreatitis.

Pathways for genes affiliated with Hereditary Pancreatitis

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Sources:
29KEGG, 37NCBI BioSystems Database, 12EMD Millipore, 51QIAGEN, 53Reactome
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Compounds for genes affiliated with Hereditary Pancreatitis

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Sources:
11DrugBank, 44Novoseek, 24HMDB
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Compounds related to Hereditary Pancreatitis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
13-Phenylpropylamine1110.5PRSS1, PRSS2
22-Phenylethylamine1110.5PRSS1, PRSS2
3Phosphorylisopropane1110.5PRSS2, PRSS1
4Monoisopropylphosphorylserine1110.5PRSS2, PRSS1
5benzylamine44 1111.4PRSS1, PRSS2
6Phosphonoserine1110.3CFTR, REG1A
7noradrenochrome44 2411.3MGST1, GSTM3
8adrenochrome44 2411.3GSTM3, MGST1
9mitomycin c4410.2FANCG, FANCF, FANCE, FANCL, CFTR
10benzamidine44 1111.2PRSS1, PRSS2
11trypsinogen4410.2SPINK1, CFTR, REG1A, PRSS1, PRSS2, CTRC
12hydrochloric acid44 2411.0GSTM3, MGST1

GO Terms for genes affiliated with Hereditary Pancreatitis

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16Gene Ontology
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Cellular components related to Hereditary Pancreatitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1Fanconi anaemia nuclear complexGO:0432409.7FANCM, FANCL, FANCE, FANCF, FANCG
2nucleoplasmGO:0056549.6FANCF, FANCE, FANCL, FANCM, MDC1, USP1

Biological processes related to Hereditary Pancreatitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1glutathione derivative biosynthetic processGO:190168710.3GSTM3, MGST1
2double-strand break repair via homologous recombinationGO:0007249.7MDC1, SHFM1, RAD54B, PALB2
3DNA repairGO:0062819.3PALB2, FANCG, FANCF, FANCE, FANCL, FANCM

Molecular functions related to Hereditary Pancreatitis according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:00425210.2PRSS1, PRSS2, CTRC
2glutathione bindingGO:04329510.2MGST1, GSTM3
3glutathione transferase activityGO:00436410.0GSTM3, MGST1
4protein bindingGO:0055159.0SPINK1, FANCG, FANCF, FANCE, FANCM, MGST1

Products for genes affiliated with Hereditary Pancreatitis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Pancreatitis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet