MCID: TRP008
MIFTS: 45

Tropical Calcific Pancreatitis

Categories: Genetic diseases, Endocrine diseases, Gastrointestinal diseases, Rare diseases

Aliases & Classifications for Tropical Calcific Pancreatitis

MalaCards integrated aliases for Tropical Calcific Pancreatitis:

Name: Tropical Calcific Pancreatitis 53 71 36 28 13 69
Tcp 53 55 71
Fibrocalculous Pancreatic Diabetes 53 69
Fibrocalculous Pancreatic Diabetes, Susceptibility to 53
Tropical Calcific Chronic Pancreatitis 55
Tropical Pancreatitis 55

Characteristics:

Orphanet epidemiological data:

55
tropical pancreatitis
Age of onset: Childhood;

OMIM:

53
Inheritance:
autosomal dominant
autosomal recessive

Miscellaneous:
median age at onset is 21 years
occurs most often in developing countries in tropical regions
no phenotypic difference between patients who are homozygous or heterozygous for mutations in the spink1 gene


HPO:

31
tropical calcific pancreatitis:
Inheritance autosomal dominant inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 608189
Orphanet 55 ORPHA103918
UMLS via Orphanet 70 C1842402
ICD10 via Orphanet 33 K86.1
MedGen 39 C1842402
KEGG 36 H00932

Summaries for Tropical Calcific Pancreatitis

UniProtKB/Swiss-Prot : 71 Tropical calcific pancreatitis: Idiopathic, juvenile, nonalcoholic form of chronic pancreatitis widely prevalent in several tropical countries. It can be associated with fibrocalculous pancreatic diabetes (FCPD) depending on both environmental and genetic factors. TCP differs from alcoholic pancreatitis by a much younger age of onset, pancreatic calcification, a high incidence of insulin dependent but ketosis resistant diabetes mellitus, and an exceptionally high incidence of pancreatic cancer.

MalaCards based summary : Tropical Calcific Pancreatitis, also known as tcp, is related to alcoholic pancreatitis and pancreatitis, and has symptoms including abdominal pain, neoplasm of the pancreas and pancreatic calcification. An important gene associated with Tropical Calcific Pancreatitis is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways/superpathways are Lysosome and Antigen processing and presentation. The drugs Vitamin D and Cholecalciferol have been mentioned in the context of this disorder. Affiliated tissues include pancreas, bone and b cells, and related phenotype is endocrine/exocrine gland.

Description from OMIM: 608189

Related Diseases for Tropical Calcific Pancreatitis

Graphical network of the top 20 diseases related to Tropical Calcific Pancreatitis:



Diseases related to Tropical Calcific Pancreatitis

Symptoms & Phenotypes for Tropical Calcific Pancreatitis

Symptoms via clinical synopsis from OMIM:

53
Abdomen:
recurrent abdominal pain since childhood

Endocrine Features:
increased incidence of fibrocalculus pancreatic diabetes (fcpd)
insulin-dependent but ketosis-resistant diabetes

Abdomen Pancreas:
chronic pancreatitis
pancreatic calcifications
intraductal calculi, especially in the caput
increased risk of pancreatic cancer

Neoplasia:
increased risk of pancreatic cancer


Clinical features from OMIM:

608189

Human phenotypes related to Tropical Calcific Pancreatitis:

31
# Description HPO Frequency HPO Source Accession
1 abdominal pain 31 HP:0002027
2 neoplasm of the pancreas 31 HP:0002894
3 pancreatic calcification 31 HP:0005213
4 chronic pancreatitis 31 HP:0006280
5 insulin-dependent but ketosis-resistant diabetes 31 HP:0008205

MGI Mouse Phenotypes related to Tropical Calcific Pancreatitis:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 9.02 ACE CTSB REG1A SPINK1 TCF7L2

Drugs & Therapeutics for Tropical Calcific Pancreatitis

Drugs for Tropical Calcific Pancreatitis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 10)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
2
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 10883523 5280795 6221
3
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
4 Micronutrients Phase 4
5 Trace Elements Phase 4
6 Vitamins Phase 4
7 Ergocalciferols Phase 4
8 Bone Density Conservation Agents Phase 4
9 Vitamin D2 Nutraceutical Phase 4
10 Calciferol Nutraceutical Phase 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Prospective Study of Efficacy of Intra-muscular Vitamin D3 in Tropical Calcific Pancreatitis Completed NCT00956839 Phase 4 Vitamin D3 (Cholecalciferol)

Search NIH Clinical Center for Tropical Calcific Pancreatitis

Genetic Tests for Tropical Calcific Pancreatitis

Genetic tests related to Tropical Calcific Pancreatitis:

# Genetic test Affiliating Genes
1 Tropical Calcific Pancreatitis 28 SPINK1

Anatomical Context for Tropical Calcific Pancreatitis

MalaCards organs/tissues related to Tropical Calcific Pancreatitis:

38
Pancreas, Bone, B Cells

Publications for Tropical Calcific Pancreatitis

Articles related to Tropical Calcific Pancreatitis:

(show all 35)
# Title Authors Year
1
Association Analysis of PRSS1-PRSS2 and CLDN2-MORC4 Variants in Nonalcoholic Chronic Pancreatitis Using Tropical Calcific Pancreatitis as Model. ( 26784911 )
2016
2
Genetic and phenotypic heterogeneity in tropical calcific pancreatitis. ( 25516642 )
2014
3
Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants. ( 22580415 )
2013
4
Double blind randomized control study of intramuscular vitamin D3 supplementation in tropical calcific pancreatitis. ( 23564348 )
2013
5
Stellate cell activation in tropical calcific pancreatitis compared to alcoholic pancreatitis, adenocarcinoma of pancreas and normal pancreas. ( 22797393 )
2012
6
Tropical calcific pancreatitis. ( 22446928 )
2012
7
Tropical calcific pancreatitis in HIV patient. ( 23188944 )
2012
8
What's there in a name: tropical calcific pancreatitis and idiopathic chronic pancreatitis in India. ( 20980338 )
2011
9
High prevalence of low bone mineral density in patients with tropical calcific pancreatitis. ( 21441842 )
2011
10
Images in clinical medicine. Tropical calcific pancreatitis. ( 21995390 )
2011
11
Anomalous pancreaticobiliary ductal union in tropical calcific pancreatitis. ( 20065547 )
2010
12
Outcome of pancreatic ascites in patients with tropical calcific pancreatitis managed using a uniform treatment protocol. ( 19907961 )
2009
13
Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis. ( 19077465 )
2009
14
The G191R variant in the PRSS2 gene does not play a role in protection against tropical calcific pancreatitis. ( 19433599 )
2009
15
Genetic mechanisms underlying the pathogenesis of tropical calcific pancreatitis. ( 19140225 )
2009
16
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants. ( 19404200 )
2009
17
Tropical calcific pancreatitis. ( 18590261 )
2008
18
TCF7L2 gene polymorphisms do not predict susceptibility to diabetes in tropical calcific pancreatitis but may interact with SPINK1 and CTSB mutations in predicting diabetes. ( 18706099 )
2008
19
Genetic aspects of tropical calcific pancreatitis. ( 18604651 )
2008
20
Comprehensive screening for reg1alpha gene rules out association with tropical calcific pancreatitis. ( 17990360 )
2007
21
Association of cathepsin B gene polymorphisms with tropical calcific pancreatitis. ( 16492714 )
2006
22
Lack of significant association of an insertion/deletion polymorphism in the angiotensin converting enzyme (ACE) gene with tropical calcific pancreatitis. ( 17163998 )
2006
23
Mutations in anionic trypsinogen gene are not associated with tropical calcific pancreatitis. ( 15831926 )
2005
24
Tropical calcific pancreatitis presenting as kwashiorkor. ( 15912980 )
2004
25
Prospective study of pancreatic b-cell and exocrine function following duct decompression in tropical calcific pancreatitis. ( 11865345 )
2002
26
Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis. ( 12011155 )
2002
27
Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. ( 12360463 )
2002
28
Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis. ( 11151920 )
2000
29
Tropical calcific pancreatitis and fibrocalculus pancreatic diabetes in Bangladesh. ( 9195412 )
1997
30
Beta-cell function and insulin sensitivity in tropical calcific pancreatitis from north India. ( 9109851 )
1997
31
Celiac disease and tropical calcific pancreatitis. ( 8213729 )
1993
32
Clinical and biochemical studies in the prediabetic phase of tropical calcific pancreatitis. ( 1557337 )
1992
33
Diabetes secondary to tropical calcific pancreatitis. ( 1445168 )
1992
34
The spectrum of pancreatic exocrine and endocrine (beta-cell) function in tropical calcific pancreatitis. ( 2205529 )
1990
35
Tropical calcific pancreatitis. ( 7266409 )
1980

Variations for Tropical Calcific Pancreatitis

UniProtKB/Swiss-Prot genetic disease variations for Tropical Calcific Pancreatitis:

71
# Symbol AA change Variation ID SNP ID
1 SPINK1 p.Asn34Ser VAR_011689 rs17107315

ClinVar genetic disease variations for Tropical Calcific Pancreatitis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPINK1 SPINK1, -215G-T, PROMOTER single nucleotide variant Pathogenic

Expression for Tropical Calcific Pancreatitis

Search GEO for disease gene expression data for Tropical Calcific Pancreatitis.

Pathways for Tropical Calcific Pancreatitis

Pathways related to Tropical Calcific Pancreatitis according to KEGG:

36
# Name Kegg Source Accession
1 Lysosome hsa04142
2 Antigen processing and presentation hsa04612

GO Terms for Tropical Calcific Pancreatitis

Cellular components related to Tropical Calcific Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular space GO:0005615 9.35 ACE CTSB PRSS1 PRSS2 SPINK1
2 extracellular region GO:0005576 9.1 ACE CTRC CTSB PRSS1 PRSS2 SPINK1

Biological processes related to Tropical Calcific Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix disassembly GO:0022617 9.32 PRSS1 PRSS2
2 digestion GO:0007586 9.26 PRSS1 PRSS2
3 collagen catabolic process GO:0030574 9.16 CTSB PRSS2
4 proteolysis GO:0006508 9.02 ACE CTRC CTSB PRSS1 PRSS2
5 cobalamin metabolic process GO:0009235 8.96 CTRC PRSS1

Molecular functions related to Tropical Calcific Pancreatitis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hydrolase activity GO:0016787 9.65 ACE CTRC CTSB PRSS1 PRSS2
2 serine-type peptidase activity GO:0008236 9.33 CTRC PRSS1 PRSS2
3 serine-type endopeptidase activity GO:0004252 9.26 CTRC CTSB PRSS1 PRSS2
4 peptidase activity GO:0008233 9.02 ACE CTRC CTSB PRSS1 PRSS2

Sources for Tropical Calcific Pancreatitis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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