Details of Disease

General Information of Disease (ID: DISCZYU2)

• Disease Name: Exocrine pancreatic insufficiency
• Synonyms: pancreatic insufficiency; exocrine pancreas insufficiency; exocrine pancreatic insufficiency
• Disease Class: DC35-DC3Z: Pancreas disease
• Definition: Inability of the exocrine pancreas to produce and secrete an adequate amount of digestive enzymes into the small intestine. Patients present with symptoms of malabsorption syndrome, abdominal discomfort, and bloating. Causes include chronic pancreatitis, cystic fibrosis, and autoimmune disorders.
• Disease Hierarchy:
  DISDH7NI: Pancreas disorder
  DISCZYU2: Exocrine pancreatic insufficiency
• ICD Code: ICD-11: ICD-11: DC35.1
• Disease Identifiers:
  MONDO ID: MONDO_0001684
  MESH ID: D010188
  UMLS CUI: C0267963
  MedGen ID: 75647
  HPO ID: HP:0001738
  SNOMED CT ID: 47367009

Drug-Interaction Atlas (DIA) of This Disease

This Disease is Treated as An Indication in 3 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Bucelipase alfa	DM50SNX	Phase 3	NA	[1]
MS-1819	DM35YFC	Phase 1/2	NA	[2]
EUR-1066	DM0MRN3	Phase 1	NA	[3]

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 6 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ATP6AP1	TTWDM4U	Strong	CausalMutation	[4]
CEL	TTTRNQW	Strong	Biomarker	[5]
CELA1	TT3NKIB	Strong	Biomarker	[6]
CFTR	TTRLZHP	Strong	Genetic Variation	[7]
MTOR	TTCJG29	Strong	Biomarker	[8]
TFPI	TT068JH	Strong	Biomarker	[9]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC9A6	DTN0JXW	Strong	Biomarker	[10]

This Disease Is Related to 11 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
BPTF	OTD1RZAD	Strong	Genetic Variation	[11]
CELA3A	OT9JAL80	Strong	Biomarker	[6]
COX4I2	OTB98B21	Strong	Biomarker	[12]
CTRL	OTB6NA5O	Strong	Altered Expression	[13]
HNF1B	OTSYIC3T	Strong	Genetic Variation	[14]
HSD17B6	OTSB55D2	Strong	Biomarker	[15]
KCNIP4	OTB1BS0X	Strong	Biomarker	[16]
MUS81	OTVZ4E60	Strong	Biomarker	[17]
SBDS	OTHDCCIB	Strong	Genetic Variation	[18]
SPINK1	OTSUVAL2	Strong	Biomarker	[19]
CELA3B	OTGU8BE9	Definitive	Biomarker	[20]

References

• [1] ClinicalTrials.gov (NCT01413581) Comparison of rhBSSL With Placebo When Added to Infant Formula or Pasteurized Breast Milk During 4 Weeks of Treatment in Preterm Infants. U.S. National Institutes of Health.
• [2] Trusted, scientifically sound profiles of drug programs, clinical trials, safety reports, and company deals, written by scientists. Springer. 2015. Adis Insight (drug id 800030334)
• [3] ClinicalTrials.gov (NCT01159119) A Study of EUR-1066 in Subjects With Chronic Pancreatitis, Exocrine Pancreatic Insufficiency and Chronic Abdominal Pain. U.S. National Institutes of Health.
• [4] Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31.
• [5] Bile salt stimulated lipase: Inhibition by phospholipids and relief by phospholipase A(2).J Cyst Fibros. 2017 Nov;16(6):763-770. doi: 10.1016/j.jcf.2017.07.005. Epub 2017 Jul 22.
• [6] The ageing pancreas: a systematic review of the evidence and analysis of the consequences.J Intern Med. 2018 May;283(5):446-460. doi: 10.1111/joim.12745. Epub 2018 Mar 23.
• [7] Hepatobiliary disease in children and adolescents with cystic fibrosis.J Pediatr (Rio J). 2018 Sep-Oct;94(5):504-510. doi: 10.1016/j.jped.2017.07.006. Epub 2017 Sep 7.
• [8] MTOR inhibitor-based combination therapies for pancreatic cancer.Br J Cancer. 2018 Feb 6;118(3):366-377. doi: 10.1038/bjc.2017.421. Epub 2018 Jan 2.
• [9] Simultaneous perfusion and permeability assessments using multiband multi-echo EPI (M2-EPI) in brain tumors.Magn Reson Med. 2019 Mar;81(3):1755-1768. doi: 10.1002/mrm.27532. Epub 2018 Oct 9.
• [10] Potential pathogenicity of Inquilinus limosus in a pediatric patient with cystic fibrosis.Pediatr Pulmonol. 2018 Jul;53(7):E21-E23. doi: 10.1002/ppul.24043. Epub 2018 May 23.
• [11] Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features. Am J Hum Genet. 2017 Oct 5;101(4):503-515. doi: 10.1016/j.ajhg.2017.08.014. Epub 2017 Sep 21.
• [12] Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene.Am J Hum Genet. 2009 Mar;84(3):412-7. doi: 10.1016/j.ajhg.2009.02.006. Epub 2009 Mar 5.
• [13] Diagnostic Performance of Measurement of Fecal Elastase-1 in Detection of Exocrine Pancreatic Insufficiency: Systematic Review and Meta-analysis.Clin Gastroenterol Hepatol. 2018 Aug;16(8):1220-1228.e4. doi: 10.1016/j.cgh.2018.01.027. Epub 2018 Jan 31.
• [14] HNF1B mutation in a Turkish child with renal and exocrine pancreas insufficiency, diabetes and liver disease.Pediatr Diabetes. 2012 Mar;13(2):e1-5. doi: 10.1111/j.1399-5448.2011.00773.x. Epub 2011 Jul 19.
• [15] Loss of the Mia40a oxidoreductase leads to hepato-pancreatic insufficiency in zebrafish.PLoS Genet. 2018 Nov 20;14(11):e1007743. doi: 10.1371/journal.pgen.1007743. eCollection 2018 Nov.
• [16] Pancreatic Insufficiency in Cystic Fibrosis: Influence of Inflammatory Response Genes.Pancreas. 2018 Jan;47(1):99-109. doi: 10.1097/MPA.0000000000000963.
• [17] Mus81 knockdown improves chemosensitivity of hepatocellular carcinoma cells by inducing S-phase arrest and promoting apoptosis through CHK1 pathway.Cancer Med. 2016 Feb;5(2):370-85. doi: 10.1002/cam4.588. Epub 2015 Dec 29.
• [18] The Shwachman-Bodian-Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type.J Med Genet. 2007 Apr;44(4):e73. doi: 10.1136/jmg.2006.043869.
• [19] Natural history of SPINK1 germline mutation related-pancreatitis.EBioMedicine. 2019 Oct;48:581-591. doi: 10.1016/j.ebiom.2019.09.032. Epub 2019 Oct 15.
• [20] Diagnosis of exocrine pancreatic insufficiency in chronic pancreatitis: (13)C-Mixed Triglyceride Breath Test versus Fecal Elastase.Pancreatology. 2017 Jul-Aug;17(4):580-585. doi: 10.1016/j.pan.2017.03.002. Epub 2017 Mar 6.