MCID: PNC077
MIFTS: 21

Pancreatitis, Idiopathic malady

Genetic diseases (common), Endocrine diseases categories
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Summaries for Pancreatitis, Idiopathic

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47OMIM, 33MalaCards
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MalaCards: Pancreatitis, Idiopathic is related to acute pancreatitis and pancreatitis. An important gene associated with Pancreatitis, Idiopathic is CFTR (cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)), and among its related pathways is Pancreatic secretion. The compounds fluoride and calcium have been mentioned in the context of this disorder.

Description from OMIM:47 167800

Aliases & Classifications for Pancreatitis, Idiopathic

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47OMIM
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Classifications:

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


Aliases & Descriptions:

pancreatitis, idiopathic 47


Related Diseases for Pancreatitis, Idiopathic

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Pancreatitis, Idiopathic:



Diseases related to pancreatitis, idiopathic

Symptoms for Pancreatitis, Idiopathic

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47OMIM
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Clinical features from OMIM:

167800

Drugs & Therapeutics for Pancreatitis, Idiopathic

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Pancreatitis, Idiopathic

Search NIH Clinical Center for Pancreatitis, Idiopathic

Genetic Tests for Pancreatitis, Idiopathic

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Anatomical Context for Pancreatitis, Idiopathic

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Animal Models for Pancreatitis, Idiopathic or affiliated genes

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Publications for Pancreatitis, Idiopathic

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Variations for Pancreatitis, Idiopathic

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Sources:
64UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Pancreatitis, Idiopathic:

64 (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, Idiopathic:

1 (show all 40)
id Gene Name 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
26CFTRNM_000492.3(CFTR): c.224G> A (p.Arg75Gln)single nucleotide variantBenign, Likely benign, Pathogenic, Uncertain significancers1800076GRCh37Chr 7, 117149147: 117149147
27SPINK1NM_003122.4(SPINK1): c.163C> T (p.Pro55Ser)single nucleotide variantBenign, Pathogenicrs111966833GRCh37Chr 5, 147207616: 147207616
28SPINK1NM_003122.4(SPINK1): c.27delC (p.Ser10Valfs)deletionLikely pathogenic, Pathogenicrs193922659GRCh37Chr 5, 147211114: 147211114
29NM_002769.4(PRSS1): c.116T> C (p.Val39Ala)single nucleotide variantPathogenicrs397507439GRCh37Chr 7, 142458481: 142458481
30NM_002769.4(PRSS1): c.415T> A (p.Cys139Ser)single nucleotide variantPathogenicrs397507440GRCh37Chr 7, 142459839: 142459839
31NM_002769.4(PRSS1): c.47C> T (p.Ala16Val)single nucleotide variantPathogenicrs202003805GRCh37Chr 7, 142458412: 142458412
32NM_002769.4(PRSS1): c.63_71dupTGACAAGAT (p.Ile24_Val25insAspLysIle)duplicationPathogenicrs397507441GRCh37Chr 7, 142458428: 142458436
33NM_002769.4(PRSS1): c.65A> G (p.Asp22Gly)single nucleotide variantPathogenicrs397507442GRCh37Chr 7, 142458430: 142458430
34NM_002769.4(PRSS1): c.86A> C (p.Asn29Thr)single nucleotide variantPathogenicrs111033566GRCh37Chr 7, 142458451: 142458451
35CFTRNM_000492.3(CFTR): c.1521_1523delCTT (p.Phe508delPhe)deletionPathogenic, risk factorrs113993960GRCh37Chr 7, 117199646: 117199648
36CFTRNM_000492.3(CFTR): c.1624G> T (p.Gly542Ter)single nucleotide variantPathogenicrs113993959GRCh37Chr 7, 117227832: 117227832
37CFTRNM_000492.3(CFTR): c.1652G> A (p.Gly551Asp)single nucleotide variantPathogenicrs75527207GRCh37Chr 7, 117227860: 117227860
38CFTRNM_000492.3(CFTR): c.2991G> C (p.Leu997Phe)single nucleotide variantPathogenic, risk factorrs1800111GRCh37Chr 7, 117250575: 117250575
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, Idiopathic

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Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Pancreatitis, Idiopathic

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Pathways for genes affiliated with Pancreatitis, Idiopathic

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50PathCards, 30KEGG
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Pathways related to Pancreatitis, Idiopathic according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1PRSS1, CFTR

Compounds for genes affiliated with Pancreatitis, Idiopathic

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Sources:
45Novoseek, 51PharmGKB, 24HMDB, 11DrugBank
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Compounds related to Pancreatitis, Idiopathic according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1fluoride459.1CFTR, SPINK1
2calcium45 51 24 1111.5CTRC, PRSS1, SPINK1
3trypsinogen458.0CTRC, PRSS1, CFTR, SPINK1
4serine457.9SPINK1, CFTR, PRSS1, CTRC

GO Terms for genes affiliated with Pancreatitis, Idiopathic

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16Gene Ontology
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Molecular functions related to Pancreatitis, Idiopathic according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1serine-type endopeptidase activityGO:0042529.0CTRC, PRSS1

Products for genes affiliated with Pancreatitis, Idiopathic

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Pancreatitis, Idiopathic

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet