HP
MCID: HRD057
MIFTS: 53

Hereditary Pancreatitis (HP) malady

Endocrine, Genetic categories

Summaries for Hereditary Pancreatitis

Sources:
21Genetics Home Reference, 3CDC, 64Wikipedia, 47OMIM, 33MalaCards
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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 and researched by the of the CDC.

MalaCards: Hereditary Pancreatitis, also known as autosomal dominant hereditary pancreatitis, is related to pancreatitis, chronic and acute pancreatitis. 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 2-Phenylethylamine and 3-Phenylpropylamine 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:64 Hereditary Pancreatitis (HP) is an inflammation of the pancreas, attributed to genetic causes. It was... more...

Description from OMIM:47 167800

Aliases & Classifications for Hereditary Pancreatitis

Sources:
43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 61UMLS, 47OMIM, 45Novoseek
See all sources

Classifications:

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


Aliases & Descriptions:

hereditary pancreatitis 43 20 22 21 61
autosomal dominant hereditary pancreatitis 21
hereditary chronic pancreatitis 21
pancreatitis, hereditary 47
pancreatitis hereditary 45
pancreatitis, calcific 61
familial pancreatitis 21
hp 21


Related Diseases for Hereditary Pancreatitis

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 209)
idRelated DiseaseScoreTop Affiliating Genes
1pancreatitis, chronic30.5PRSS1, REG1A, CFTR, SPINK1
2acute pancreatitis30.3SPINK1, CFTR, REG1A, PRSS2
3cystic fibrosis30.2PRSS1, SPINK1, CFTR
4steatorrhea30.2CFTR
5alcoholic pancreatitis30.1CFTR, SPINK1
6colorectal cancer30.0PRSS2, REG1A, SPINK1, GSTM3
7recurrent acute pancreatitis29.9CFTR, SPINK1
8squamous cell carcinoma of the head and neck29.7FANCF, FANCE, FANCL, FANCG
9hermansky-pudlak syndrome10.4
10pancreatic carcinoma, familial10.4
11hantavirus pulmonary syndrome10.3
12pancreatitis, idiopathic10.3
13prss1-related hereditary pancreatitis10.2
14crohn's disease10.2
15pulmonary tuberculosis10.2
16plasmodium falciparum malaria10.2
17anhaptoglobinemia10.2
18type 1 diabetes10.2
19batten disease10.2
20tuberculosis10.2
21pancreatic steatorrhea10.1
22diabetic nephropathy10.1
23coronary artery disease,10.1
24hellp syndrome10.1
25pure red-cell aplasia10.1
26evans' syndrome10.1
27neuromyelitis optica10.1
28favism10.1
29trachoma10.1
30congenital disorder of glycosylation type i10.1
31hemoglobinuria10.1
32hemochromatosis10.1
33hereditary elliptocytosis10.1
34alpha thalassemia10.1
35thrombotic thrombocytopenic purpura10.1
36priapism10.1
37autoimmune hemolytic anemia10.1
38herpes zoster10.1
39polymyalgia rheumatica10.1
40blackwater fever10.1
41acute poststreptococcal glomerulonephritis10.1
42sclerosing cholangitis10.1
43bronchopneumonia10.1
44scurvy10.1
45acute kidney failure10.1
46sickle cell disease10.1
47cold agglutinin disease10.1
48primary sclerosing cholangitis10.1
49cluster headache10.1
50ovarian epithelial cancer10.1

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



Diseases related to hereditary pancreatitis

Clinical Features for Hereditary Pancreatitis

Sources:
47OMIM
See all sources

Clinical features from OMIM:

167800

Drugs & Therapeutics for Hereditary Pancreatitis

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hereditary Pancreatitis:

id Genetic test Affiliating Genes
1 Hereditary Pancreatitis20 22 SPINK1

Anatomical Context for Hereditary Pancreatitis

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hereditary Pancreatitis:

33
Pancreas

Animal Models for Hereditary Pancreatitis or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Hereditary Pancreatitis:

37
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

Sources:
51PubMed
See all sources

Articles related to Hereditary Pancreatitis:

(show top 50)    (show all 202)
idTitleAuthorsYear
1
Hereditary pancreatitis. (20697897)
2010
2
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
3
Hereditary pancreatitis caused by mutation-induced misfolding of human cationic trypsinogen: a novel disease mechanism. (19191323)
2009
4
Local clustering of PRSS1 R122H mutations in hereditary pancreatitis patients from Northern Germany. (18702646)
2008
5
Signal peptide variants that impair secretion of pancreatic secretory trypsin inhibitor (SPINK1) cause autosomal dominant hereditary pancreatitis. (17274009)
2007
6
Hereditary pancreatitis amlodipine trial: a pilot study of a calcium-channel blocker in hereditary pancreatitis. (18090235)
2007
7
A mouse model of hereditary pancreatitis generated by transgenic expression of R122H trypsinogen. (17087933)
2006
8
Chronic hereditary pancreatitis with N29I mutation in a Turkish child. (16052860)
2005
9
Hereditary pancreatitis--a rare differential diagnosis in patients with menstruation-associated recurrent acute pancreatitis: a case report. (15106365)
2004
10
Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis. (15082592)
2004
11
Transforming growth factor-beta1, interleukin-10 and interferon-gamma cytokine polymorphisms in patients with hereditary, familial and sporadic chronic pancreatitis. (15316224)
2004
12
Hereditary pancreatitis caused by a novel PRSS1 mutation (Arg-122 --> Cys) that alters autoactivation and autodegradation of cationic trypsinogen. (11719509)
2002
13
A case of hemosuccus pancreaticus associated with hereditary pancreatitis. (11874252)
2001
14
Mutations of the cationic trypsinogen gene in hereditary and non-hereditary pancreatitis. (11549837)
2001
15
Motivations and concerns of patients with access to genetic testing for hereditary pancreatitis. (11374708)
2001
16
Pancreatic cancer in hereditary pancreatitis: consensus guidelines for prevention, screening and treatment. (12120218)
2001
17
R116C mutation of cationic trypsinogen in a Turkish family with recurrent pancreatitis illustrates genetic microheterogeneity of hereditary pancreatitis. (11842279)
2001
18
Cigarette smoking as a risk factor for pancreatic cancer in patients with hereditary pancreatitis. (11448279)
2001
19
Antioxidant treatment in hereditary pancreatitis. A pilot study on three young patients. (11303976)
2001
20
Nomenclature of trypsinogen mutations in hereditary pancreatitis. (10649497)
2000
21
Evidence that hereditary pancreatitis is genetically heterogeneous disorder. (10653140)
2000
22
Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis. (10691414)
2000
23
Molecular basis of hereditary pancreatitis. (10909845)
2000
24
Re: Maternal inheritance pattern of hereditary pancreatitis in patients with pancreatic carcinoma. (10491444)
1999
25
Hereditary pancreatitis: new insights, new directions. (11030605)
1999
26
The pancreatitis-associated protein in hereditary and chronic alcoholic pancreatitis. (10505755)
1999
27
Hereditary pancreatitis: new insights into acute and chronic pancreatitis. (10446089)
1999
28
Hereditary pancreatitis and pancreatic carcinoma. (10415865)
1999
29
Hereditary pancreatitis-associated mutation asn(21) --> ile stabilizes rat trypsinogen in vitro. (10514442)
1999
30
The spectrum of complications of hereditary pancreatitis. Is this a model for future gene therapy? (10503134)
1999
31
Hereditary pancreatitis: report of a family from Turkey. (9893301)
1998
32
Implications of molecular diagnostic testing in families with hereditary pancreatitis. (10464647)
1997-1998
33
Hereditary pancreatitis and the risk of pancreatic cancer. International Hereditary Pancreatitis Study Group. (9091646)
1997
34
The hereditary pancreatitis gene maps to long arm of chromosome 7. (8845851)
1996
35
Cystic fibrosis gene mutations detected in hereditary pancreatitis. (8992448)
1996
36
Hereditary pancreatitis with lithiasis in a 7-year-old boy. (8617523)
1995
37
Hereditary pancreatitis. (7698830)
1994
38
Hereditary pancreatitis presenting with ascites. (3809082)
1986
39
Hereditary pancreatitis and recurrent abdominal pain of childhood. (4057022)
1985
40
Hereditary pancreatitis in children. (6721419)
1984
41
Hereditary pancreatitis. (7072573)
1982
42
The diagnosis of hereditary pancreatitis by pancreatography. (7297825)
1981
43
Pseudocyst formation in hereditary pancreatitis. (722438)
1978
44
Hereditary pancreatitis-a report on two kindreds. (654833)
1978
45
Hereditary pancreatitis in England and Wales. (671483)
1978
46
Hereditary pancreatitis. Nonspecificity of aminoaciduria and diagnosis of occult disease. (1130928)
1975
47
Hereditary pancreatitis in a kinship associated with portal vein thrombosis. (5062005)
1972
48
Hereditary pancreatitis. A kindred without gross aminoaciduria. (5635333)
1968
49
Hereditary pancreatitis. The role of surgical intervention. (13947323)
1963
50
Hereditary pancreatitis. Description of a fifth kindred and summary of clinical features. (13902224)
1962

Genetic Variations for Hereditary Pancreatitis

Expression for genes affiliated with Hereditary Pancreatitis

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
30KEGG, 38NCBI BioSystems Database, 12EMD Millipore, 52QIAGEN, 54Reactome
See all sources

Compounds for genes affiliated with Hereditary Pancreatitis

Sources:
11DrugBank, 45Novoseek, 24HMDB
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Compounds related to Hereditary Pancreatitis according to GeneCards/GeneDecks:

(show all 12)
idCompoundScoreTop Affiliating Genes
12-Phenylethylamine1110.5PRSS2, PRSS1
23-Phenylpropylamine1110.5PRSS1, PRSS2
3Monoisopropylphosphorylserine1110.5PRSS2, PRSS1
4Phosphorylisopropane1110.5PRSS1, PRSS2
5benzylamine45 1111.4PRSS1, PRSS2
6Phosphonoserine1110.3CFTR, REG1A
7noradrenochrome45 2411.3MGST1, GSTM3
8adrenochrome45 2411.3MGST1, GSTM3
9mitomycin c4510.2CFTR, FANCG, FANCF, FANCE, FANCL
10trypsinogen4510.2PRSS1, CTRC, PRSS2, REG1A, SPINK1, CFTR
11hydrochloric acid45 2411.2MGST1, GSTM3
12benzamidine45 1111.0PRSS2, PRSS1

GO Terms for genes affiliated with Hereditary Pancreatitis

Sources:
16Gene Ontology
See all sources

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hereditary Pancreatitis

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet