MCID: PRT019
MIFTS: 46

Protein-Losing Enteropathy

Categories: Gastrointestinal diseases

Aliases & Classifications for Protein-Losing Enteropathy

MalaCards integrated aliases for Protein-Losing Enteropathy:

Name: Protein-Losing Enteropathy 12 29 6 15
Protein-Losing Enteropathies 54 43 71
Enteropathy, Exudative 12
Exudative Enteropathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10611
MeSH 43 D011504
SNOMED-CT 67 22542007 66972006
UMLS 71 C0033680

Summaries for Protein-Losing Enteropathy

MalaCards based summary : Protein-Losing Enteropathy, also known as protein-losing enteropathies, is related to congenital disorder of glycosylation, type ib and congenital diarrhea 7 with exudative enteropathy. An important gene associated with Protein-Losing Enteropathy is CD55 (CD55 Molecule (Cromer Blood Group)), and among its related pathways/superpathways are Transport to the Golgi and subsequent modification and N-Glycan biosynthesis. The drugs Sodium citrate and Dobutamine have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and small intestine, and related phenotypes are cellular and growth/size/body region

Wikipedia : 74 Protein losing enteropathy refers to any condition of the gastrointestinal tract (e.g. damage to the gut... more...

Related Diseases for Protein-Losing Enteropathy

Diseases related to Protein-Losing Enteropathy via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 437)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ib 34.3 SERPINA1 MPI
2 congenital diarrhea 7 with exudative enteropathy 34.1 PLVAP DGAT1
3 bronchitis 30.9 VEGFA SERPINA1 ALB
4 constrictive pericarditis 30.7 ZIC3 SERPINA1 ALB
5 chronic graft versus host disease 30.6 CD79A ALB
6 plasma cell neoplasm 30.3 VEGFA CD79A ALB
7 tricuspid valve insufficiency 30.3 ZIC3 PTPN11 ALB
8 esophageal varix 30.1 SERPINC1 SERPINA1 ALB
9 mediastinitis 30.0 ZIC3 ALB
10 hydronephrosis 29.7 ZIC3 XDH VEGFA ALB
11 myeloma, multiple 29.4 VEGFA PTPN11 FGFR3 CD79A ALB
12 atrial heart septal defect 29.1 ZIC3 SERPINC1 PTPN11 ALB
13 congenital disorder of glycosylation, type in 28.8 SRD5A3 SERPINC1 PMM2 MPI ALG8 ALG6
14 diarrhea 10, protein-losing enteropathy type 13.1
15 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 13.0
16 diarrhea 7, protein-losing enteropathy type 12.9
17 lymphangiectasis 11.9
18 primary intestinal lymphangiectasia 11.8
19 juvenile polyposis syndrome 11.7
20 hyaline fibromatosis syndrome 11.7
21 congenital disorder of glycosylation, type ic 11.5
22 hennekam lymphangiectasia-lymphedema syndrome 3 11.5
23 congenital disorder of glycosylation, type ih 11.4
24 diarrhea 10.9
25 systemic lupus erythematosus 10.9
26 lupus erythematosus 10.9
27 pericarditis 10.7
28 hydrops, lactic acidosis, and sideroblastic anemia 10.6
29 agammaglobulinemia 10.6
30 inflammatory bowel disease 10.6
31 lymphopenia 10.6
32 amyloidosis 10.6
33 colitis 10.6
34 gastroenteritis 10.6
35 crohn's disease 10.6
36 single ventricular heart 10.6
37 eosinophilic gastroenteritis 10.5
38 plastic bronchitis 10.5
39 portal hypertension 10.5
40 intestinal disease 10.5
41 congestive heart failure 10.5
42 hypoplastic left heart syndrome 10.5
43 celiac disease 1 10.5
44 enterocolitis 10.5
45 lymphoma 10.5
46 collagenous colitis 10.5
47 heart disease 10.5
48 purpura 10.5
49 connective tissue disease 10.5
50 peritonitis 10.5

Graphical network of the top 20 diseases related to Protein-Losing Enteropathy:



Diseases related to Protein-Losing Enteropathy

Symptoms & Phenotypes for Protein-Losing Enteropathy

MGI Mouse Phenotypes related to Protein-Losing Enteropathy:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.22 ADAMTS3 ALB CD79A DGAT1 FGFR3 MPI
2 growth/size/body region MP:0005378 10.22 ADAMTS3 ALG6 ALG8 DGAT1 FGFR3 MPI
3 cardiovascular system MP:0005385 10.19 ADAMTS3 ALB MPI PLVAP PMM2 PTPN11
4 embryo MP:0005380 10.13 ADAMTS3 ALG6 ALG8 MPI PMM2 PTPN11
5 immune system MP:0005387 10.1 ADAMTS3 ALB ALG6 CD79A FGFR3 PLVAP
6 hematopoietic system MP:0005397 10.07 ADAMTS3 CD55 CD79A FGFR3 PLVAP PMM2
7 digestive/alimentary MP:0005381 10.06 ADAMTS3 ALB DGAT1 FGFR3 PLVAP PTPN11
8 integument MP:0010771 9.91 ADAMTS3 ALG6 ALG8 DGAT1 FGFR3 PLVAP
9 mortality/aging MP:0010768 9.83 ADAMTS3 ALB ALG6 ALG8 CD79A FGFR3
10 liver/biliary system MP:0005370 9.81 ADAMTS3 ALB CD79A DGAT1 PMM2 PTPN11
11 renal/urinary system MP:0005367 9.32 ADAMTS3 ALB ALG6 CD79A FGFR3 PLVAP

Drugs & Therapeutics for Protein-Losing Enteropathy

Drugs for Protein-Losing Enteropathy (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 43)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sodium citrate Approved, Investigational Phase 4 68-04-2
2
Dobutamine Approved Phase 4 34368-04-2 36811
3
Citric acid Approved, Nutraceutical, Vet_approved Phase 4 77-92-9 311
4 Neurotransmitter Agents Phase 4
5 Sympathomimetics Phase 4
6 Autonomic Agents Phase 4
7 Protective Agents Phase 4
8 Adrenergic Agonists Phase 4
9 Vasodilator Agents Phase 4
10 Adrenergic beta-Agonists Phase 4
11 Sildenafil Citrate Phase 4 171599-83-0
12 Citrate Phase 4
13 Phosphodiesterase Inhibitors Phase 4
14 Phosphodiesterase 5 Inhibitors Phase 4
15 Adrenergic Agents Phase 4
16 Fibrinolytic Agents Phase 2
17 Plasminogen Phase 2
18 Tissue Plasminogen Activator Phase 2
19
Heparin Approved, Investigational Phase 1 9005-49-6 772 46507594
20 calcium heparin Phase 1
21
Dopamine Approved 51-61-6, 62-31-7 681
22
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
23
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
24
Vitamin D3 Approved, Nutraceutical 67-97-0 6221 5280795
25
Calcium Approved, Nutraceutical 7440-70-2 271
26 Vasoactive intestinal peptide 40077-57-4
27 neurokinin A
28
Substance P 33507-63-0 44359816
29 Immunologic Factors
30 Complement System Proteins
31 Complement C5
32 Hematinics
33 Liver Extracts
34 Dopamine Agents
35 Micronutrients
36 Vitamins
37 Trace Elements
38 Nutrients
39 Vitamin D2
40 Ergocalciferols
41 Calciferol
42 Calcium, Dietary
43 Hormones

Interventional clinical trials:

(show all 15)
# Name Status NCT ID Phase Drugs
1 Response to Sildenafil in Patients With Fontan Physiology, A Pressure-volume Loop Analysis Completed NCT01815502 Phase 4
2 Safety and Efficacy of Inhaled Tissue Plasminogen Activator (tPA) for the Acute Treatment of Pediatric Plastic Bronchitis Recruiting NCT02315898 Phase 2 Treatment-inhaled tPA
3 Study of ORL-1M (D-mannose) in Patients With CDG-Ib Recruiting NCT03404869 Phase 1, Phase 2 ORL-1M - D-mannose
4 " An Open Label Pilot Study Evaluating Safety and Evidence of Therapeutic Effect of IV Admin of 2-0, 3-0 Desulfated Heparin, Treatment of Exacerbation of Protein Losing Enteropathy (PLE) Associated With Single Ventricle Palliative Surgery" Terminated NCT01161641 Phase 1 ODSH at 0.125 mg/kg/h;ODSH at 0.375 mg/kg/h;ODSH at 0.250 mg/kg/h
5 The Lymphatic Morphology and Function of Fontan-Kreutzer Operated Patients Unknown status NCT03379805
6 An Investigation Into The Potential Roles Of Vasoactive Intestinal Peptide And Substance P In The Pathophysiology Of Plastic Bronchitis And Protein Losing Enteropathy In Children With Palliated Single Ventricle Physiology Completed NCT01563757
7 Transcriptome and Metabolic Analyses of CHAPLE Disease Patients With or Without Eculizumab Treatment Recruiting NCT03950804 Eculizumab Injection
8 Can Ultrasound Liver Stiffness Pre-Fontan, Post-Fontan, or Change Over Time Predict Onset and Severity of Fontan-Related Complications, Including Fontan-Associated Liver Disease Recruiting NCT03914196
9 The International Lymphatic Disease and Lymphedema Patient Registry and Tissue Bank Recruiting NCT01336790
10 Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders Recruiting NCT02156115
11 Factors Associated With Normal Exercise Capacity in Patients With Single Ventricle: the Multicenter Cross-sectional Study Recruiting NCT04026542
12 Lymphatic Morphology and Classification in Patients With a Fontan Circulation - A Multicenter Study Active, not recruiting NCT04163653
13 Characterizing the Effect of Dopamine on Markers of Lymph Re-circulation in Fontan-associated Protein-losing Enteropathy Enrolling by invitation NCT03322345
14 The Determination of Differences Between Intr-Atrial vs. Extra-Cardiac Technique During the Fontan Operation: A Retrospective Review Terminated NCT00266942
15 Optimization of Vitamin D Stores and Its Impact on the Bone Health and Disease Outcomes of Children and Adolescents With IBD. Terminated NCT00621257

Search NIH Clinical Center for Protein-Losing Enteropathy

Cochrane evidence based reviews: protein-losing enteropathies

Genetic Tests for Protein-Losing Enteropathy

Genetic tests related to Protein-Losing Enteropathy:

# Genetic test Affiliating Genes
1 Protein-Losing Enteropathy 29 CD55

Anatomical Context for Protein-Losing Enteropathy

MalaCards organs/tissues related to Protein-Losing Enteropathy:

40
Heart, Liver, Small Intestine, T Cells, B Cells, Colon, Bone

Publications for Protein-Losing Enteropathy

Articles related to Protein-Losing Enteropathy:

(show top 50) (show all 1568)
# Title Authors PMID Year
1
Pitfalls of technetium-99m-labeled human serum albumin scintigraphy for protein-losing enteropathy. 54 61
19789543 2009
2
Serum cholesterol in idiopathic and lupus-related protein-losing enteropathy. 54 61
18539712 2008
3
Resolution of protein-losing enteropathy with low-molecular weight heparin in an adult patient with Fontan palliation. 54 61
18036954 2007
4
Nutritional vitamin D deficiency presenting as hemichorea. 54 61
17608310 2007
5
Application of technetium-99m-labeled human serum albumin scan to assist surgical treatment of protein-losing enteropathy in Cronkhite-Canada syndrome: report of a case. 54 61
15768184 2005
6
Extracardiac Fontan conversion, cryoablation, and pacemaker placement for patients with a failed Fontan. 54 61
16087088 2005
7
Oral disodium cromoglycate and ketotifen for a patient with eosinophilic gastroenteritis, food allergy and protein-losing enteropathy. 54 61
15032404 2003
8
Outcome of symptomatic patients undergoing extracardiac Fontan conversion and cryoablation. 54 61
12928654 2003
9
[Hypoalbuminemia and invalidating edema in an elderly subject: treatment with parenteral albumin infusion]. 54 61
12746661 2003
10
Fecal alpha1-proteinase inhibitor concentration in dogs with chronic gastrointestinal disease. 54 61
12833220 2003
11
[Protein losing enteropathy (PLE) detected by Tc99m-labelled human serum albumin abdominal scintigraphy--case report]. 54 61
15065343 2003
12
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. 54 61
12434892 2002
13
Protein-losing enteropathy exacerbated with the appearance of symptoms of systemic lupus erythematosus. 54 61
11393422 2001
14
Protein-losing enteropathy: diagnosis with (99m)Tc-labeled human serum albumin scintigraphy. 54 61
11274540 2001
15
Resolution of protein-losing enteropathy with standard high molecular heparin and urokinase after Fontan repair in a patient with tricuspid atresia. 54 61
11052284 2000
16
99mTc-human serum albumin scans in children with protein-losing enteropathy. 54 61
10688102 2000
17
Treatment of iron deficiency anemia and associated protein-losing enteropathy in children. 54 61
10695822 2000
18
Disseminated Langerhans' cell histiocytosis and massive protein-losing enteropathy. 54 61
10464385 1999
19
Protein-losing enteropathy in congestive heart failure: diagnosis by means of a simple method. 54 61
10430351 1999
20
Relevance of biophysical concepts in the scintigraphic detection of gastrointestinal leaks. 54 61
9481767 1997
21
Visualization of protein losing enteropathy in infantile systemic hyalinosis with Tc-99m HSA after albumin challenge. 54 61
8732848 1996
22
Protein-losing enteropathy and pancreatic involvement in a case of connective tissue disease. 54 61
1577230 1992
23
[Imaging diagnosis of protein-losing enteropathy by 99mTc-labeled serum albumin]. 54 61
2290206 1990
24
Decompression of the thoracic duct: A novel transcatheter approach. 61
31444883 2020
25
Portomesenteric Venous Complications after Pancreatic Surgery with Venous Reconstruction: Imaging and Intervention. 61
31977263 2020
26
Extracardiac Fontan Fenestration Device Closure with Amplatzer Vascular Plug II and Septal Occluder: Procedure Results and Medium-Term Follow-Up. 61
31894396 2020
27
Are children with protein-losing enteropathy after the Fontan operation at increased risk of cytomegalovirus enteropathy? A report of two cases. 61
31973780 2020
28
Fontan-associated nephropathy: Predictors and outcomes. 61
31955974 2020
29
Protein Losing Enteropathy After Fontan Operation: Glimpses of Clarity Through the Lifting Fog. 61
31835975 2020
30
Budesonide for Protein Losing Enteropathy in Patients with Fontan Circulation: A Systematic Review and Meta-Analysis. 61
31835979 2020
31
Primary Intestinal Lymphangiectasia (Waldmann's Disease) A Rare Case of Protein Losing Enteropathy. 61
31979845 2020
32
Fontan protein-losing enteropathy is associated with advanced liver disease and a proinflammatory intestinal and systemic state. 61
31912956 2020
33
Differential diagnosis of hypoalbuminemia in childhood: protein losing enteropathy associated to systemic lupus erythematosus in a young boy. 61
31790005 2020
34
Relation Between Exercise Capacity and Extracardiac Conduit Size in Patients with Fontan Circulation. 61
31473799 2019
35
Heterotaxy is not a risk factor for adverse long-term outcomes following Fontan completion. 61
31891693 2019
36
Reversal of protein-losing enteropathy following surgical revision of a jejunal Roux-en-Y loop after liver transplantation: Look for lymphangiectasia! 61
31578799 2019
37
An 18-year-old woman with pulmonary nodules found to have cytotoxic T-lymphocyte-associated antigen 4 deficiency. 61
31818888 2019
38
Permanent pacing post-Fontan is not associated with reduced long-term survival. 61
31601284 2019
39
Bilateral Central Serous Retinal Detachment in Protein-losing Enteropathy. 61
31833258 2019
40
Successful treatment with 2-chlorodeoxyadenosine of refractory pediatric Langerhans cell histiocytosis with initial involvement of the gastrointestinal tract. 61
31350665 2019
41
Long-term therapeutic effect of Fontan conversion with an extracardiac conduit. 61
31883324 2019
42
Novel PLVAP Mutation in Protein Losing Enteropathy. 61
31215290 2019
43
Protein-Losing Enteropathy Following Fontan Palliation. 61
31711823 2019
44
Protein Losing Enteropathy due to Gut Plasmacytoma Polyposis. 61
31205137 2019
45
Percutaneous embolization of lymphatic fistulae as treatment for protein-losing enteropathy and plastic bronchitis in patients with failing Fontan circulation. 61
31596530 2019
46
Characteristics of subclinical Mycobacterium avium ssp. paratuberculosis infection in a captive white-tailed deer herd. 61
31510911 2019
47
Outcomes following modified extracardiac Fontan procedure of direct total cavopulmonary connection with autologous vessels: a single-centre 10-year experience. 61
31740945 2019
48
Contemporary Outcomes of the Fontan Operation: A Large Single-Institution Cohort. 61
31279788 2019
49
Evidence of Systemic Absorption of Enteral Budesonide in Patients with Fontan-Associated Protein-Losing Enteropathy. 61
31707491 2019
50
Outcome of the Glenn procedure as definitive palliation in single ventricle patients. 61
31761401 2019

Variations for Protein-Losing Enteropathy

ClinVar genetic disease variations for Protein-Losing Enteropathy:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CD55 NM_001114752.1(CD55):c.43delC (p.Leu15Serfs)deletion Pathogenic 427983 rs1114167430 1:207495152-207495152 1:207321807-207321807
2 CD55 NM_000574.5(CD55):c.110del (p.Gly37fs)deletion Pathogenic 431760 rs1135402915 1:207495735-207495735 1:207322390-207322390
3 CD55 NM_000574.5(CD55):c.149_150delinsCCTT (p.Glu50fs)indel Pathogenic 431761 rs1135402916 1:207495775-207495776 1:207322430-207322431
4 CD55 NM_000574.5(CD55):c.800G>C (p.Cys267Ser)SNV Pathogenic 431762 rs1135402917 1:207504588-207504588 1:207331243-207331243
5 CD55 NM_000574.5(CD55):c.287-1G>ASNV Pathogenic 431763 rs1135402918 1:207497903-207497903 1:207324558-207324558
6 XDH NM_000379.4(XDH):c.1172C>T (p.Pro391Leu)SNV Uncertain significance 598996 rs1558697792 2:31602803-31602803 2:31379937-31379937
7 XDH NM_000379.4(XDH):c.3647C>A (p.Pro1216His)SNV Uncertain significance 335760 rs143981573 2:31562482-31562482 2:31339616-31339616

Expression for Protein-Losing Enteropathy

Search GEO for disease gene expression data for Protein-Losing Enteropathy.

Pathways for Protein-Losing Enteropathy

GO Terms for Protein-Losing Enteropathy

Cellular components related to Protein-Losing Enteropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 endoplasmic reticulum GO:0005783 9.5 SRD5A3 SERPINA1 FGFR3 DGAT1 ALG8 ALG6
2 platelet alpha granule lumen GO:0031093 8.8 VEGFA SERPINA1 ALB

Biological processes related to Protein-Losing Enteropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lactation GO:0007595 9.54 XDH VEGFA SERPINC1
2 protein glycosylation GO:0006486 9.35 SRD5A3 PMM2 MPI ALG8 ALG6
3 protein N-linked glycosylation GO:0006487 9.33 PMM2 ALG8 ALG6
4 GDP-mannose biosynthetic process GO:0009298 9.32 PMM2 MPI
5 oligosaccharide-lipid intermediate biosynthetic process GO:0006490 9.26 ALG8 ALG6
6 dolichol-linked oligosaccharide biosynthetic process GO:0006488 8.8 SRD5A3 ALG8 ALG6

Molecular functions related to Protein-Losing Enteropathy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity GO:0004583 8.96 ALG8 ALG6
2 dolichyl pyrophosphate Man9GlcNAc2 alpha-1,3-glucosyltransferase activity GO:0042281 8.62 ALG8 ALG6

Sources for Protein-Losing Enteropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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