MCID: TRP008
MIFTS: 44

Tropical Calcific Pancreatitis

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

Aliases & Classifications for Tropical Calcific Pancreatitis

MalaCards integrated aliases for Tropical Calcific Pancreatitis:

Name: Tropical Calcific Pancreatitis 54 71 29 13 69
Fibrocalculous Pancreatic Diabetes 54 69
Tcp 56 71
Tropical Calcific Chronic Pancreatitis 56
Tropical Pancreatitis 56

Characteristics:

Orphanet epidemiological data:

56
tropical pancreatitis
Age of onset: Childhood;

OMIM:

54
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:

32
tropical calcific pancreatitis:
Inheritance autosomal recessive inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 608189
Orphanet 56 ORPHA103918
UMLS via Orphanet 70 C1842402
ICD10 via Orphanet 34 K86.1
MedGen 40 C1842402

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 fibrocalculous pancreatic diabetes, is related to fibrocalculous pancreatopathy and pancreatitis, and has symptoms including abdominal pain, pancreatic calcification and chronic pancreatitis. An important gene associated with Tropical Calcific Pancreatitis is SPINK1 (Serine Peptidase Inhibitor, Kazal Type 1), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. The drugs Cholecalciferol and Ergocalciferol 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

Diseases related to Tropical Calcific Pancreatitis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 18)
id Related Disease Score Top Affiliating Genes
1 fibrocalculous pancreatopathy 11.1
2 pancreatitis 10.5
3 optic nerve glioma 10.2 PRSS1 SPINK1
4 allergic urticaria 10.2 CTSB PRSS1
5 chondroma 10.1 PRSS1 SPINK1
6 angioma serpiginosum 10.1 PRSS1 PRSS2
7 bone fracture 10.0
8 cirrhotic cardiomyopathy 9.9 CTRC PRSS1 SPINK1
9 gingivitis 9.8
10 cryoglobulinemia 9.8 CTSB SPINK1
11 celiac disease 9.7
12 cystic fibrosis 9.7
13 kwashiorkor 9.7
14 adenocarcinoma 9.7
15 alcoholic pancreatitis 9.7
16 hypertrichosis 9.3 ACE TCF7L2
17 atypical polypoid adenomyoma 8.8 CTRC PRSS1 PRSS2 REG1A SPINK1
18 netherton syndrome 7.0 ACE CTRC CTSB PRSS1 PRSS2 REG1A

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:

54

Abdomen:
recurrent abdominal pain since childhood

Neoplasia:
increased risk of pancreatic cancer

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

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


Clinical features from OMIM:

608189

Human phenotypes related to Tropical Calcific Pancreatitis:

32
id Description HPO Frequency HPO Source Accession
1 abdominal pain 32 HP:0002027
2 pancreatic calcification 32 HP:0005213
3 chronic pancreatitis 32 HP:0006280
4 insulin-dependent but ketosis-resistant diabetes 32 HP:0008205
5 neoplasm of the pancreas 32 HP:0002894

MGI Mouse Phenotypes related to Tropical Calcific Pancreatitis:

44
id 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)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cholecalciferol Approved, Nutraceutical Phase 4 67-97-0 6221 10883523 5280795
2
Ergocalciferol Approved, Nutraceutical Phase 4 50-14-6 5280793
3
Vitamin D Approved, Nutraceutical, Vet_approved Phase 4 1406-16-2
4 Bone Density Conservation Agents Phase 4
5 Ergocalciferols Phase 4
6 Micronutrients Phase 4
7 Trace Elements Phase 4
8 Vitamins Phase 4
9 Calciferol Nutraceutical Phase 4
10 Vitamin D2 Nutraceutical Phase 4

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Tropical Calcific Pancreatitis 29

Anatomical Context for Tropical Calcific Pancreatitis

MalaCards organs/tissues related to Tropical Calcific Pancreatitis:

39
Pancreas, Bone, B Cells

Publications for Tropical Calcific Pancreatitis

Articles related to Tropical Calcific Pancreatitis:

(show all 35)
id 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
Tropical calcific pancreatitis. ( 22446928 )
2012
6
Tropical calcific pancreatitis in HIV patient. ( 23188944 )
2012
7
Stellate cell activation in tropical calcific pancreatitis compared to alcoholic pancreatitis, adenocarcinoma of pancreas and normal pancreas. ( 22797393 )
2012
8
Images in clinical medicine. Tropical calcific pancreatitis. ( 21995390 )
2011
9
What's there in a name: tropical calcific pancreatitis and idiopathic chronic pancreatitis in India. ( 20980338 )
2011
10
High prevalence of low bone mineral density in patients with tropical calcific pancreatitis. ( 21441842 )
2011
11
Anomalous pancreaticobiliary ductal union in tropical calcific pancreatitis. ( 20065547 )
2010
12
The G191R variant in the PRSS2 gene does not play a role in protection against tropical calcific pancreatitis. ( 19433599 )
2009
13
Divergent roles of SPINK1 and PRSS2 variants in tropical calcific pancreatitis. ( 19077465 )
2009
14
Genetic mechanisms underlying the pathogenesis of tropical calcific pancreatitis. ( 19140225 )
2009
15
Tropical calcific pancreatitis and its association with CTRC and SPINK1 (p.N34S) variants. ( 19404200 )
2009
16
Outcome of pancreatic ascites in patients with tropical calcific pancreatitis managed using a uniform treatment protocol. ( 19907961 )
2009
17
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
18
Tropical calcific pancreatitis. ( 18590261 )
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
Tropical calcific pancreatitis: strong association with SPINK1 trypsin inhibitor mutations. ( 12360463 )
2002
27
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
28
Mutations in the cystic fibrosis transmembrane regulator gene in patients with tropical calcific pancreatitis. ( 11151920 )
2000
29
Beta-cell function and insulin sensitivity in tropical calcific pancreatitis from north India. ( 9109851 )
1997
30
Tropical calcific pancreatitis and fibrocalculus pancreatic diabetes in Bangladesh. ( 9195412 )
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
id Symbol AA change Variation ID SNP ID
1 SPINK1 p.Asn34Ser VAR_011689 rs17107315

ClinVar genetic disease variations for Tropical Calcific Pancreatitis:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SPINK1 SPINK1, -215G-T 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

GO Terms for Tropical Calcific Pancreatitis

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

id 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:

id Name GO ID Score Top Affiliating Genes
1 extracellular matrix disassembly GO:0022617 9.37 PRSS1 PRSS2
2 digestion GO:0007586 9.26 PRSS1 PRSS2
3 collagen catabolic process GO:0030574 9.16 CTSB PRSS2
4 positive regulation of protein binding GO:0032092 9.02 TCF7L2
5 proteolysis GO:0006508 9.02 ACE CTRC CTSB PRSS1 PRSS2
6 cobalamin metabolic process GO:0009235 8.96 CTRC PRSS1

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

id 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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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