Details of Disease

Disease Name

Hereditary chronic pancreatitis

pancreatitis, chronic pancreatitis, chronic, susceptibility to, included; pancreatitis, calcific, included; Hp; HPC; familial pancreatitis; autosomal dominant hereditary pancreatitis; PCTT; pancreatitis, calcific; pancreatitis, hereditary; pancreatitis, chronic, protection against; pancreatitis, chronic, protection against, included; pancreatitis, chronic; pancreatitis, chronic, susceptibility to; hereditary pancreatitis; hereditary chronic pancreatitis

Definition

Hereditary chronic pancreatitis (HCP), a rare inherited form of pancreatitis is defined as recurrent acute pancreatitis and/or chronic pancreatitis in two first-degree relatives or 3 or more second-degree relatives in 2 or more generations, for which no predisposing factors are identified. HCP is characterized by irreversible damage to both exocrine and endocrine components of the pancreas.

Disease Hierarchy

DISYKSRF: Genetic disease

DISBUOMJ: Chronic pancreatitis

DISF0J1Q: Hereditary chronic pancreatitis

Disease Identifiers

MONDO ID

MONDO_0008185

MESH ID

C537262

UMLS CUI

C0238339

OMIM ID

167800

MedGen ID

116056

Orphanet ID

676

SNOMED CT ID

235956004

General Information of Disease (ID: DISF0J1Q)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 20 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GAST	TT4LRVO	Limited	Biomarker	[1]
HDGF	TTKGV26	Limited	Altered Expression	[2]
KLK3	TTS78AZ	Limited	Biomarker	[3]
NGFR	TTEDJN4	Limited	Biomarker	[4]
RNASEL	TT7V0K4	Limited	Altered Expression	[5]
STAT6	TTWOE1T	Limited	Biomarker	[6]
CPA1	TT3LJ6G	moderate	Biomarker	[7]
CTRC	TT3RMNA	moderate	Biomarker	[8]
CASR	TTBUYHA	Strong	Genetic Variation	[9]
CFTR	TTRLZHP	Strong	Biomarker	[10]
CPA1	TT3LJ6G	Strong	Autosomal dominant	[11]
F13A1	TTXI2RA	Strong	Biomarker	[12]
HOXB13	TTZ6I58	Strong	Genetic Variation	[13]
LGR5	TTTSGRH	Strong	Biomarker	[14]
MAGEC1	TT9M6NA	Strong	Genetic Variation	[15]
MSR1	TT2TDH9	Strong	Biomarker	[16]
NPEPPS	TT371QC	Strong	Genetic Variation	[17]
SRD5A2	TTT02K8	Strong	Genetic Variation	[18]
CTRC	TT3RMNA	Definitive	Autosomal dominant	[11]
PRSS1	TT2WR1T	Definitive	Autosomal dominant	[19]
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⏷ Show the Full List of 20 DTT(s)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CFTR	DTEJNUG	Limited	Autosomal dominant	[20]
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This Disease Is Related to 2 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
MGST1	DEAPJSO	Strong	Genetic Variation	[21]
PSAT1	DEBS17P	Strong	Genetic Variation	[17]
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This Disease Is Related to 23 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CBX4	OT4XVRRF	Limited	Genetic Variation	[22]
CFTR	OT6B22QH	Limited	Autosomal dominant	[20]
CLDN2	OTRF3D6Y	Limited	Autosomal dominant	[11]
NAB2	OTG4BDF3	Disputed	Genetic Variation	[23]
APOL3	OT95SQHR	Strong	Genetic Variation	[24]
BHLHE22	OTZUQY5L	Strong	Biomarker	[25]
CELA3B	OTGU8BE9	Strong	Genetic Variation	[26]
CPA1	OTLU5P1L	Strong	Autosomal dominant	[11]
CRISPLD2	OTVSFHTL	Strong	Genetic Variation	[27]
ELAC2	OTY3BOF6	Strong	Biomarker	[28]
FOXD1	OT80PRHS	Strong	Genetic Variation	[29]
LZTS1	OTXXL864	Strong	Biomarker	[30]
NCOA2	OTMQFPBB	Strong	Altered Expression	[31]
PANX3	OTKRQZ1T	Strong	Altered Expression	[32]
PLAG1	OTT9AJQY	Strong	Genetic Variation	[17]
PROS1	OTXQWNOI	Strong	Genetic Variation	[17]
PRSS2	OTOMVUWL	Strong	Genetic Variation	[33]
PRSS3	OTN3S5YB	Strong	Genetic Variation	[34]
PRSS58	OTVUH7KR	Strong	Genetic Variation	[35]
SMURF1	OT5UIZR8	Strong	Altered Expression	[36]
SPINK1	OTSUVAL2	Strong	Autosomal dominant	[37]
CTRC	OTVO81EV	Definitive	Autosomal dominant	[11]
PRSS1	OTA425AX	Definitive	Autosomal dominant	[19]
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⏷ Show the Full List of 23 DOT(s)

References

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11	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.
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16	Analysis of the macrophage scavenger receptor 1 gene in Swedish hereditary and sporadic prostate cancer.Prostate. 2004 May 1;59(2):132-40. doi: 10.1002/pros.10367.
17	Screening for prostate cancer in Dutch hereditary prostate cancer families.Int J Cancer. 2008 Feb 15;122(4):871-6. doi: 10.1002/ijc.23165.
18	Evaluation of SRD5A2 sequence variants in susceptibility to hereditary and sporadic prostate cancer.Prostate. 2003 Jun 15;56(1):37-44. doi: 10.1002/pros.10225.
19	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
20	A cluster of cystic fibrosis mutations in the first nucleotide-binding fold of the cystic fibrosis conductance regulator protein. Nature. 1990 Jul 26;346(6282):366-9. doi: 10.1038/346366a0.
21	Genetic analysis of the glutathione s-transferase genes MGST1, GSTM3, GSTT1, and GSTM1 in patients with hereditary pancreatitis.J Gastroenterol. 2004 Aug;39(8):783-7. doi: 10.1007/s00535-004-1389-7.
22	ELAC2/HPC2 involvement in hereditary and sporadic prostate cancer.Cancer Res. 2001 Aug 15;61(16):6038-41.
23	Grading of meningeal solitary fibrous tumors/hemangiopericytomas: analysis of the prognostic value of the Marseille Grading System in a cohort of 132 patients.Brain Pathol. 2019 Jan;29(1):18-27. doi: 10.1111/bpa.12613. Epub 2018 May 7.
24	Family-based association analysis of 42 hereditary prostate cancer families identifies the Apolipoprotein L3 region on chromosome 22q12 as a risk locus.Hum Mol Genet. 2010 Oct 1;19(19):3852-62. doi: 10.1093/hmg/ddq283. Epub 2010 Jul 14.
25	Ligand-dependent inequivalence of the and subunits of ferric human hemoglobin bound to haptoglobin.J Inorg Biochem. 2020 Jan;202:110814. doi: 10.1016/j.jinorgbio.2019.110814. Epub 2019 Sep 2.
26	Elastase 3B mutation links to familial pancreatitis with diabetes and pancreatic adenocarcinoma.J Clin Invest. 2019 Aug 1;129(11):4676-4681. doi: 10.1172/JCI129961.
27	Absence of PRSS1 mutations and association of SPINK1 trypsin inhibitor mutations in hereditary and non-hereditary chronic pancreatitis.Gut. 2004 May;53(5):723-8. doi: 10.1136/gut.2003.026526.
28	HPC2/ELAC2 gene variants associated with incident prostate cancer.J Hum Genet. 2003;48(12):634-638. doi: 10.1007/s10038-003-0091-6. Epub 2003 Nov 19.
29	A novel mouse model of hemangiopericytoma due to loss of Tsc2.Hum Mol Genet. 2018 Dec 15;27(24):4169-4175. doi: 10.1093/hmg/ddy289.
30	Germline sequence variants of the LZTS1 gene are associated with prostate cancer risk.Cancer Genet Cytogenet. 2002 Aug;137(1):1-7. doi: 10.1016/s0165-4608(02)00549-6.
31	Are meningeal hemangiopericytoma and mesenchymal chondrosarcoma the same?: a study of HEY1-NCOA2 fusion.Am J Clin Pathol. 2013 Nov;140(5):670-4. doi: 10.1309/AJCPGUNGP52ZSDNS.
32	Coordination of WNT signaling and ciliogenesis during odontogenesis by piezo type mechanosensitive ion channel component 1.Sci Rep. 2019 Oct 14;9(1):14762. doi: 10.1038/s41598-019-51381-9.
33	Tighter Control by Chymotrypsin C (CTRC) Explains Lack of Association between Human Anionic Trypsinogen and Hereditary Pancreatitis.J Biol Chem. 2016 Jun 17;291(25):12897-905. doi: 10.1074/jbc.M116.725374. Epub 2016 Apr 18.
34	Mutations in the cationic trypsinogen gene and evidence for genetic heterogeneity in hereditary pancreatitis.J Med Genet. 1999 Mar;36(3):228-32.
35	Cationic trypsinogen mutations and pancreatitis.Clin Lab Med. 2005 Mar;25(1):39-59. doi: 10.1016/j.cll.2004.12.004.
36	Upregulation of microRNA?94?p inhibits hypopharyngeal carcinoma cell proliferation, migration and invasion by targeting SMURF1 via the mTOR signaling pathway.Int J Oncol. 2019 Apr;54(4):1245-1255. doi: 10.3892/ijo.2019.4711. Epub 2019 Feb 4.
37	The child with epilepsy. Teaching children about their seizures and medications. MCN Am J Matern Child Nurs. 1979 May-Jun;4(3):161-2. doi: 10.1097/00005721-197905000-00006.