PedAM

Pediatric Disease Annotations & Medicines


	exocrine pancreatic insufficiency

Disease ID	1226
Disease	exocrine pancreatic insufficiency
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.
Synonym	exocrine pancreas insufficiency exocrine pancreatic insufficiencies exocrine pancreatic insufficiency (disorder) exocrine pancreatic insufficiency (epi) exocrine pancreatic insufficiency [disease/finding] insufficiencies, exocrine pancreatic insufficiencies, pancreatic insufficiency, exocrine pancreatic insufficiency, pancreatic pancreatic exocrine insufficiency pancreatic insufficiencies pancreatic insufficiencies, exocrine pancreatic insufficiency, exocrine
DOID	DOID:13316
UMLS	C0267963
MeSH	D010188
SNOMED-CT	SNOMEDCT_US_2016_09_01:47367009
Comorbidity	UMLS \| Disease \| Sentences' Count(Total Sentences:17) C0024523 \| malabsorption \| 5 C0010674 \| cystic fibrosis \| 3 C0011991 \| diarrhea \| 3 C0011847 \| diabetes \| 3 C0007570 \| celiac disease \| 1 C0028754 \| obesity \| 1 C0038238 \| steatorrhea \| 1 C0030305 \| pancreatitis \| 1 C0011860 \| type 2 diabetes \| 1 C0030312 \| bone marrow failure \| 1 C0042870 \| vitamin d defic \| 1 C0011849 \| diabetes mellitus \| 1 C0042870 \| vitamin d deficiency \| 1 C0011991 \| diarrhoea \| 1 C0013369 \| infectious diarrhea \| 1 C0002871 \| anemia \| 1 C0024523 \| intestinal malabsorption \| 1
Curated Gene	Entrez_id \| Symbol \| Resource(Total Genes:1) CELA3B \| 23436 \| CTD_human
Inferring Gene	(Waiting for update.)
Text Mined Gene	Entrez_id \| Symbol \| Score \| Resource(Total Genes:71) 1080 \| CFTR \| DISEASES 6343 \| SCT \| DISEASES 9812 \| KIAA0141 \| DISEASES 479 \| ATP12A \| DISEASES 366 \| AQP9 \| DISEASES 7392 \| USF2 \| DISEASES 5539 \| PPY \| DISEASES 51056 \| LAP3 \| DISEASES 80736 \| SLC44A4 \| DISEASES 5967 \| REG1A \| DISEASES 2703 \| GJA8 \| DISEASES 6626 \| SNRPA \| DISEASES 51119 \| SBDS \| DISEASES 5880 \| RAC2 \| DISEASES 3630 \| INS \| DISEASES 1327 \| COX4I1 \| DISEASES 9945 \| GFPT2 \| DISEASES 2694 \| GIF \| DISEASES 6947 \| TCN1 \| DISEASES 1208 \| CLPS \| DISEASES 23531 \| MMD \| DISEASES 23678 \| SGK3 \| DISEASES 495 \| ATP4A \| DISEASES 3938 \| LCT \| DISEASES 2627 \| GATA6 \| DISEASES 2169 \| FABP2 \| DISEASES 4594 \| MUT \| DISEASES 5651 \| TMPRSS15 \| DISEASES 6750 \| SST \| DISEASES 10136 \| CELA3A \| DISEASES 197131 \| UBR1 \| DISEASES 326 \| AIRE \| DISEASES 1990 \| CELA1 \| DISEASES 886 \| CCKAR \| DISEASES 6690 \| SPINK1 \| DISEASES 81501 \| DCSTAMP \| DISEASES 5644 \| PRSS1 \| DISEASES 2520 \| GAST \| DISEASES 885 \| CCK \| DISEASES 23436 \| CELA3B \| DISEASES 10110 \| SGK2 \| DISEASES 374393 \| FAM111B \| DISEASES 6122 \| RPL3 \| DISEASES 2695 \| GIP \| DISEASES 63036 \| CELA2A \| DISEASES 1066 \| CES1 \| DISEASES 5646 \| PRSS3 \| DISEASES 2673 \| GFPT1 \| DISEASES 1870 \| E2F2 \| DISEASES 7052 \| TGM2 \| DISEASES 6283 \| S100A12 \| DISEASES 5406 \| PNLIP \| DISEASES 1056 \| CEL \| DISEASES 3692 \| EIF6 \| DISEASES 2304 \| FOXE1 \| DISEASES 51032 \| CELA2B \| DISEASES 84701 \| COX4I2 \| DISEASES 256297 \| PTF1A \| DISEASES 170302 \| ARX \| DISEASES 3651 \| PDX1 \| DISEASES 169792 \| GLIS3 \| DISEASES 6833 \| ABCC8 \| DISEASES 5530 \| PPP3CA \| DISEASES 2641 \| GCG \| DISEASES 4295 \| MLN \| DISEASES 51099 \| ABHD5 \| DISEASES 26013 \| L3MBTL1 \| DISEASES 2081 \| ERN1 \| DISEASES 136541 \| PRSS58 \| DISEASES 6023 \| RMRP \| DISEASES 7955 \| RNF217-AS1 \| DISEASES
Locus	(Waiting for update.)

Disease ID	1226
Disease	exocrine pancreatic insufficiency
Integrated Phenotype	(Waiting for update.)
Text Mined Phenotype	HPO \| Name \| Sentences' Count(Total Phenotypes:12) HP:0002024 \| Intestinal malabsorption \| 5 HP:0002014 \| Diarrhea \| 3 HP:0005528 \| Bone marrow hypoplasia \| 2 HP:0001733 \| Pancreatic inflammation \| 1 HP:0002570 \| Steatorrhea \| 1 HP:0001903 \| Anemia \| 1 HP:0001513 \| Obesity \| 1 HP:0100512 \| Vitamin D deficiency \| 1 HP:0002630 \| Fat malabsorption \| 1 HP:0002608 \| Celiac disease \| 1 HP:0000819 \| Diabetes mellitus \| 1 HP:0001824 \| Weight loss \| 1

Disease ID	1226
Disease	exocrine pancreatic insufficiency
Manually Symptom	(Waiting for update.)
Text Mined Symptom	UMLS \| Name \| Sentences' Count(Total Symptoms:3) C0024523 \| malabsorption \| 5 C0011991 \| diarrhea \| 3 C0038238 \| steatorrhea \| 1

Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)

All Snps(Total Genotypes:4)
snpId	pubmedId	geneId	geneSymbol	diseaseId	sourceId	sentence	score	Year	geneSymbol_dbSNP	CHROMOSOME	POS	REF	ALT
rs17107315	20108119	6690	SPINK1	umls:C0267963	GAD	[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or totally could explain the CP were found in 54.90% (95% CI (40.45-68.62)) of those with idiopathic CP, as a minimum estimation 1.9% (95% CI (1.00-3.47)) of the to]	0.002638474	2010	SPINK1	5	147828115	T	C
rs17107315	21375584	6690	SPINK1	umls:C0267963	BeFree	The SPINK-1/N34S mutation predisposes to early onset IP and more frequent acute flares of pancreatitis that might ultimately lead to pancreatic insufficiency.	0.002638474	2011	SPINK1	5	147828115	T	C
rs75527207	8863168	1080	CFTR	umls:C0267963	BeFree	In the heterozygous state, the cystic fibrosis transmembrane conductance regulator (CFTR) exon 11 mutation G551D has been described as severe, causing pancreatic insufficiency.	0.0259178	1996	CFTR	7	117587806	G	A
rs78655421	20108119	1080	CFTR	umls:C0267963	GAD	[The prevalence of CP, especially in women, increased over time. Genetic causes that partly or totally could explain the CP were found in 54.90% (95% CI (40.45-68.62)) of those with idiopathic CP, as a minimum estimation 1.9% (95% CI (1.00-3.47)) of the to]	0.0259178	2010	CFTR	7	117530975	G	A,C,T

GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)

GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)

Mapped by lexical matching(Total Items:0)
(Waiting for update.)

Mapped by homologous gene(Total Items:0)
(Waiting for update.)

Chemical(Total Drugs:0)
(Waiting for update.)

FDA approved drug and dosage information(Total Drugs:0)
(Waiting for update.)

FDA labeling changes(Total Drugs:0)
(Waiting for update.)

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