Details of Disease

Disease Name

Malabsorption syndrome

malabsorption syndrome; malabsorption

Definition

A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea.

Disease Hierarchy

DISGPMUQ: Intestinal disorder

DISWD40R: Disease

DISGMUVS: Malabsorption syndrome

Disease Identifiers

MONDO ID

MONDO_0020598

MESH ID

D008286

UMLS CUI

C0024523

MedGen ID

44256

SNOMED CT ID

197476001

General Information of Disease (ID: DISGMUVS)

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 15 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
CFTR	TTRLZHP	Limited	Biomarker	[1]
SLC46A1	TTY8Z2E	Limited	Biomarker	[2]
APOB	TTN1IE2	Disputed	Genetic Variation	[3]
CUBN	TT9YLCR	moderate	Genetic Variation	[4]
PCSK1	TTED9LZ	moderate	Biomarker	[5]
ATP4A	TTF1QVM	Strong	Biomarker	[6]
DGAT1	TT0GV3R	Strong	Genetic Variation	[7]
FGR	TTPOGS1	Strong	Genetic Variation	[8]
LCT	TTA0OSE	Strong	Biomarker	[9]
MTTP	TTUS1RD	Strong	Genetic Variation	[10]
PNLIP	TTXMY0J	Strong	Biomarker	[11]
PYY	TTVFJLX	Strong	Altered Expression	[12]
RNPEP	TTD74YX	Strong	Biomarker	[13]
SLC10A2	TTPI1M5	Strong	Altered Expression	[14]
SLC5A1	TT2UE56	Strong	Biomarker	[15]
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⏷ Show the Full List of 15 DTT(s)

This Disease Is Related to 2 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC2A5	DTOR02F	Strong	Biomarker	[16]
SLC6A19	DTOTAUP	Strong	Biomarker	[17]
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This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
SI	DE5EO4Y	Strong	Genetic Variation	[18]
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This Disease Is Related to 17 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ACAD8	OT3JI5GB	Limited	Biomarker	[19]
AMN	OTS1TJXG	Limited	Genetic Variation	[20]
CNNM4	OTUXJRM1	moderate	Biomarker	[21]
ARX	OTBGYH25	Strong	Biomarker	[22]
ATP8B1	OTALGS63	Strong	Biomarker	[23]
CBLIF	OTNE20WU	Strong	Biomarker	[24]
COX4I2	OTB98B21	Strong	Biomarker	[25]
EXOSC3	OTNCF906	Strong	Biomarker	[26]
MLXIPL	OTR9MLLW	Strong	Biomarker	[27]
MYO5B	OTCKL3W3	Strong	Genetic Variation	[28]
NCOA2	OTMQFPBB	Strong	Genetic Variation	[8]
NEUROG3	OT6DIPWC	Strong	Altered Expression	[29]
PANK2	OTFBW889	Strong	Genetic Variation	[30]
PDP1	OT82RTMT	Strong	Biomarker	[31]
RAB11A	OTC4FW0J	Strong	Biomarker	[28]
RFX6	OT8H77DL	Strong	Biomarker	[32]
SAR1B	OT0JZOMY	Strong	Genetic Variation	[33]
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⏷ Show the Full List of 17 DOT(s)

References

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3	Novel mutations of SAR1B gene in four children with chylomicron retention disease.J Clin Lipidol. 2019 Jul-Aug;13(4):554-562. doi: 10.1016/j.jacl.2019.05.013. Epub 2019 May 30.
4	Amnionless-mediated glycosylation is crucial for cell surface targeting of cubilin in renal and intestinal cells.Sci Rep. 2018 Feb 5;8(1):2351. doi: 10.1038/s41598-018-20731-4.
5	Congenital proprotein convertase 1/3 deficiency causes malabsorptive diarrhea and other endocrinopathies in a pediatric cohort. Gastroenterology. 2013 Jul;145(1):138-148. doi: 10.1053/j.gastro.2013.03.048. Epub 2013 Apr 2.
6	Advancements in the treatment of hypothyroidism with L-T4 liquid formulation or soft gel capsule: an update.Expert Opin Drug Deliv. 2017 May;14(5):647-655. doi: 10.1080/17425247.2016.1227782. Epub 2016 Aug 30.
7	Intestinal Failure and Aberrant Lipid Metabolism in Patients WithDGAT1 Deficiency.Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29.
8	Cellular energy depletion resets whole-body energy by promoting coactivator-mediated dietary fuel absorption.Cell Metab. 2011 Jan 5;13(1):35-43. doi: 10.1016/j.cmet.2010.12.001.
9	Impaired trafficking and subcellular localization of a mutant lactase associated with congenital lactase deficiency.Gastroenterology. 2009 Jun;136(7):2295-303. doi: 10.1053/j.gastro.2009.01.041. Epub 2009 Jan 24.
10	Intestine-specific Mttp deletion decreases mortality and prevents sepsis-induced intestinal injury in a murine model of Pseudomonas aeruginosa pneumonia.PLoS One. 2012;7(11):e49159. doi: 10.1371/journal.pone.0049159. Epub 2012 Nov 8.
11	Adenovirus-mediated human pancreatic lipase gene transfer to rat bile: gene therapy of fat malabsorption.Am J Physiol Gastrointest Liver Physiol. 2000 Nov;279(5):G1031-6. doi: 10.1152/ajpgi.2000.279.5.G1031.
12	Peptide YY(1-36) and peptide YY(3-36): Part II. Changes after gastrointestinal surgery and bariatric surgery.Obes Surg. 2006 Jun;16(6):795-803. doi: 10.1381/096089206777346619.
13	Signalling mechanisms in PAF-induced intestinal failure.Sci Rep. 2017 Oct 17;7(1):13382. doi: 10.1038/s41598-017-13850-x.
14	Defective FXR-FGF15 signaling and bile acid homeostasis in cystic fibrosis mice can be restored by the laxative polyethylene glycol.Am J Physiol Gastrointest Liver Physiol. 2019 Mar 1;316(3):G404-G411. doi: 10.1152/ajpgi.00188.2018. Epub 2019 Jan 17.
15	Knockout of Na(+)-glucose cotransporter SGLT1 mitigates diabetes-induced upregulation of nitric oxide synthase NOS1 in the macula densa and glomerular hyperfiltration.Am J Physiol Renal Physiol. 2019 Jul 1;317(1):F207-F217. doi: 10.1152/ajprenal.00120.2019. Epub 2019 May 15.
16	ChREBP deficiency leads to diarrhea-predominant irritable bowel syndrome.Metabolism. 2018 Aug;85:286-297. doi: 10.1016/j.metabol.2018.04.006. Epub 2018 Apr 15.
17	Mice Lacking the Intestinal and Renal Neutral Amino Acid Transporter SLC6A19 Demonstrate the Relationship between Dietary Protein Intake and Amino Acid Malabsorption.Nutrients. 2019 Aug 29;11(9):2024. doi: 10.3390/nu11092024.
18	Heterozygotes Are a Potential New Entity among Homozygotes and Compound Heterozygotes in Congenital Sucrase-Isomaltase Deficiency.Nutrients. 2019 Sep 25;11(10):2290. doi: 10.3390/nu11102290.
19	Vitamin D status in pediatric irritable bowel syndrome.PLoS One. 2017 Feb 13;12(2):e0172183. doi: 10.1371/journal.pone.0172183. eCollection 2017.
20	Ancient founder mutation is responsible for Imerslund-Grsbeck Syndrome among diverse ethnicities.Orphanet J Rare Dis. 2011 Nov 13;6:74. doi: 10.1186/1750-1172-6-74.
21	Basolateral Mg2+ extrusion via CNNM4 mediates transcellular Mg2+ transport across epithelia: a mouse model.PLoS Genet. 2013;9(12):e1003983. doi: 10.1371/journal.pgen.1003983. Epub 2013 Dec 5.
22	Lipid malabsorption from altered hormonal signaling changes early gut microbial responses.Am J Physiol Gastrointest Liver Physiol. 2018 Oct 1;315(4):G580-G591. doi: 10.1152/ajpgi.00135.2018. Epub 2018 Jun 28.
23	The lipid flippase heterodimer ATP8B1-CDC50A is essential for surface expression of the apical sodium-dependent bile acid transporter (SLC10A2/ASBT) in intestinal Caco-2 cells.Biochim Biophys Acta. 2014 Dec;1842(12 Pt A):2378-86. doi: 10.1016/j.bbadis.2014.09.003. Epub 2014 Sep 16.
24	Cubilin P1297L mutation associated with hereditary megaloblastic anemia 1 causes impaired recognition of intrinsic factor-vitamin B(12) by cubilin. Blood. 2000 Jul 15;96(2):405-9.
25	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.
26	The E3 Ubiquitin Ligase Siah-1 Suppresses Avian Reovirus Infection by Targeting p10 for Degradation.J Virol. 2018 Feb 26;92(6):e02101-17. doi: 10.1128/JVI.02101-17. Print 2018 Mar 15.
27	ChREBP-Knockout Mice Show Sucrose Intolerance and Fructose Malabsorption.Nutrients. 2018 Mar 12;10(3):340. doi: 10.3390/nu10030340.
28	Myosin Vb and Rab11a regulate phosphorylation of ezrin in enterocytes.J Cell Sci. 2014 Mar 1;127(Pt 5):1007-17. doi: 10.1242/jcs.137273. Epub 2014 Jan 10.
29	Null mutations of NEUROG3 are associated with delayed-onset diabetes mellitus.JCI Insight. 2020 Jan 16;5(1):e127657. doi: 10.1172/jci.insight.127657.
30	Neuroacanthocytosis syndromes.Orphanet J Rare Dis. 2011 Oct 25;6:68. doi: 10.1186/1750-1172-6-68.
31	Reduced PDK4 expression associates with increased insulin sensitivity in postobese patients.Obes Res. 2003 Feb;11(2):176-82. doi: 10.1038/oby.2003.28.
32	Rfx6 promotes the differentiation of peptide-secreting enteroendocrine cells whilerepressing genetic programs controllingserotonin production.Mol Metab. 2019 Nov;29:24-39. doi: 10.1016/j.molmet.2019.08.007. Epub 2019 Aug 13.
33	Animal model of Sar1b deficiency presents lipid absorption deficits similar to Anderson disease.J Mol Med (Berl). 2015 Feb;93(2):165-76. doi: 10.1007/s00109-014-1247-x. Epub 2015 Jan 7.