MCID: PRT019
MIFTS: 41

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 55 44 72
Enteropathy, Exudative 12
Exudative Enteropathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10611
MeSH 44 D011504
SNOMED-CT 68 22542007 66972006
UMLS 72 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 constrictive pericarditis. An important gene associated with Protein-Losing Enteropathy is CD55 (CD55 Molecule (Cromer Blood Group)), and among its related pathways/superpathways is Transport to the Golgi and subsequent modification. The drugs Sodium citrate and Dobutamine have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and small intestine.

Wikipedia : 75 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 402)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ib 34.1 SERPINA1 MPI
2 constrictive pericarditis 31.2 SERPINA1 ALB
3 bronchitis 30.6 SERPINA1 ALB
4 polyposis, skin pigmentation, alopecia, and fingernail changes 30.6 SERPINA1 ALB
5 blind loop syndrome 30.1 SERPINA1 ALB
6 hennekam syndrome 30.1 SERPINA1 ALB
7 congenital disorder of glycosylation, type in 29.7 MPI ALG6
8 gastrointestinal system disease 29.5 SERPINA1 ALB
9 diarrhea 10, protein-losing enteropathy type 13.1
10 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 13.0
11 diarrhea 7, protein-losing enteropathy type 12.9
12 congenital diarrhea 7 with exudative enteropathy 12.2
13 lymphangiectasis 11.9
14 primary intestinal lymphangiectasia 11.8
15 juvenile polyposis syndrome 11.7
16 hyaline fibromatosis syndrome 11.7
17 congenital disorder of glycosylation, type ic 11.5
18 hennekam lymphangiectasia-lymphedema syndrome 3 11.5
19 congenital disorder of glycosylation, type ih 11.4
20 diarrhea 10.9
21 lupus erythematosus 10.9
22 systemic lupus erythematosus 10.9
23 pericarditis 10.7
24 hydrops, lactic acidosis, and sideroblastic anemia 10.7
25 inflammatory bowel disease 10.6
26 agammaglobulinemia 10.6
27 colitis 10.6
28 lymphopenia 10.6
29 amyloidosis 10.6
30 gastroenteritis 10.6
31 crohn's disease 10.6
32 eosinophilic gastroenteritis 10.5
33 eosinophilic enteropathy 10.5
34 single ventricular heart 10.5
35 plastic bronchitis 10.5
36 lymphoma 10.5
37 intestinal disease 10.5
38 congestive heart failure 10.5
39 vasculitis 10.5
40 hypoplastic left heart syndrome 10.5
41 celiac disease 1 10.5
42 enterocolitis 10.5
43 collagenous colitis 10.5
44 portal hypertension 10.5
45 purpura 10.5
46 connective tissue disease 10.5
47 peritonitis 10.5
48 ulcerative colitis 10.5
49 atrial standstill 1 10.4
50 sarcoidosis 1 10.4

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



Diseases related to Protein-Losing Enteropathy

Symptoms & Phenotypes for Protein-Losing Enteropathy

Drugs & Therapeutics for Protein-Losing Enteropathy

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

(show all 48)
# 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 Cardiotonic Agents Phase 4
7 Protective Agents Phase 4
8 Autonomic Agents Phase 4
9 Peripheral Nervous System Agents Phase 4
10 Vasodilator Agents Phase 4
11 Sildenafil Citrate Phase 4 171599-83-0
12 Adrenergic Agonists Phase 4
13 Citrate Phase 4
14 Adrenergic beta-Agonists Phase 4
15 Phosphodiesterase Inhibitors Phase 4
16 Phosphodiesterase 5 Inhibitors Phase 4
17 Adrenergic Agents Phase 4
18 Fibrinolytic Agents Phase 2
19 Tissue Plasminogen Activator Phase 2
20 Plasminogen Phase 2
21
Heparin Approved, Investigational Phase 1 9005-49-6 46507594 772
22 calcium heparin Phase 1
23
Dopamine Approved 51-61-6, 62-31-7 681
24
Vitamin D3 Approved, Nutraceutical 67-97-0 6221 5280795
25
Ergocalciferol Approved, Nutraceutical 50-14-6 5280793
26
Vitamin D Approved, Nutraceutical, Vet_approved 1406-16-2
27
Calcium Approved, Nutraceutical 7440-70-2 271
28 Gastrointestinal Agents
29 Neuroprotective Agents
30 neurokinin A
31
Substance P 33507-63-0 44359816
32 Vasoactive intestinal peptide 40077-57-4
33 Immunologic Factors
34 Complement System Proteins
35 Complement C5
36 Hematinics
37 Liver Extracts
38 Dopamine Agents
39 Micronutrients
40 Hormones
41 Trace Elements
42 Vitamins
43 Ergocalciferols
44 Nutrients
45 Vitamin D2
46 Calciferol
47 Calcium, Dietary
48 Bone Density Conservation Agents

Interventional clinical trials:

(show all 14)
# 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 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
6 Transcriptome and Metabolic Analyses of CHAPLE Disease Patients With or Without Eculizumab Treatment Recruiting NCT03950804 Eculizumab Injection
7 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
8 The International Lymphatic Disease and Lymphedema Patient Registry and Tissue Bank Recruiting NCT01336790
9 Characterization of the Pathogenesis of Primary and Secondary Lymphatic Disorders Recruiting NCT02156115
10 The Lymphatic Morphology and Function of Fontan-Kreutzer Operated Patients Active, not recruiting NCT03379805
11 Characterizing the Effect of Dopamine on Markers of Lymph Re-circulation in Fontan-associated Protein-losing Enteropathy Enrolling by invitation NCT03322345
12 Factors Associated With Normal Exercise Capacity in Patients With Single Ventricle: the Multicenter Cross-sectional Study Not yet recruiting NCT04026542
13 The Determination of Differences Between Intr-Atrial vs. Extra-Cardiac Technique During the Fontan Operation: A Retrospective Review Terminated NCT00266942
14 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:

41
Heart, Liver, Small Intestine, Colon, Bone, T Cells, Testes

Publications for Protein-Losing Enteropathy

Articles related to Protein-Losing Enteropathy:

(show top 50) (show all 1542)
# Title Authors PMID Year
1
Pitfalls of technetium-99m-labeled human serum albumin scintigraphy for protein-losing enteropathy. 9 38
19789543 2009
2
Serum cholesterol in idiopathic and lupus-related protein-losing enteropathy. 9 38
18539712 2008
3
Resolution of protein-losing enteropathy with low-molecular weight heparin in an adult patient with Fontan palliation. 9 38
18036954 2007
4
Nutritional vitamin D deficiency presenting as hemichorea. 9 38
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. 9 38
15768184 2005
6
Extracardiac Fontan conversion, cryoablation, and pacemaker placement for patients with a failed Fontan. 9 38
16087088 2005
7
Oral disodium cromoglycate and ketotifen for a patient with eosinophilic gastroenteritis, food allergy and protein-losing enteropathy. 9 38
15032404 2003
8
Outcome of symptomatic patients undergoing extracardiac Fontan conversion and cryoablation. 9 38
12928654 2003
9
[Hypoalbuminemia and invalidating edema in an elderly subject: treatment with parenteral albumin infusion]. 9 38
12746661 2003
10
[Protein losing enteropathy (PLE) detected by Tc99m-labelled human serum albumin abdominal scintigraphy--case report]. 9 38
15065343 2003
11
Fecal alpha1-proteinase inhibitor concentration in dogs with chronic gastrointestinal disease. 9 38
12833220 2003
12
Oral mannose therapy persistently corrects the severe clinical symptoms and biochemical abnormalities of phosphomannose isomerase deficiency. 9 38
12434892 2002
13
Protein-losing enteropathy exacerbated with the appearance of symptoms of systemic lupus erythematosus. 9 38
11393422 2001
14
Protein-losing enteropathy: diagnosis with (99m)Tc-labeled human serum albumin scintigraphy. 9 38
11274540 2001
15
Resolution of protein-losing enteropathy with standard high molecular heparin and urokinase after Fontan repair in a patient with tricuspid atresia. 9 38
11052284 2000
16
99mTc-human serum albumin scans in children with protein-losing enteropathy. 9 38
10688102 2000
17
Treatment of iron deficiency anemia and associated protein-losing enteropathy in children. 9 38
10695822 2000
18
Disseminated Langerhans' cell histiocytosis and massive protein-losing enteropathy. 9 38
10464385 1999
19
Protein-losing enteropathy in congestive heart failure: diagnosis by means of a simple method. 9 38
10430351 1999
20
Relevance of biophysical concepts in the scintigraphic detection of gastrointestinal leaks. 9 38
9481767 1997
21
Visualization of protein losing enteropathy in infantile systemic hyalinosis with Tc-99m HSA after albumin challenge. 9 38
8732848 1996
22
Protein-losing enteropathy and pancreatic involvement in a case of connective tissue disease. 9 38
1577230 1992
23
[Imaging diagnosis of protein-losing enteropathy by 99mTc-labeled serum albumin]. 9 38
2290206 1990
24
Back to the Future: Lipiodol in Lymphography-From Diagnostics to Theranostics. 38
31283538 2019
25
Successful Treatment of Juvenile Polyposis of Infancy With Sirolimus. 38
31366686 2019
26
Diagnostic features, treatment, and outcome of dogs with inflammatory protein-losing enteropathy. 38
31381203 2019
27
Protein-losing enteropathy & Primary Intestinal Lymphangiectasia. 38
31309229 2019
28
Usefulness of midodrine in protein-losing enteropathy. 38
31031017 2019
29
Reversal of secondary protein-losing enteropathy after surgical revision of a jejunal Roux-en-Y loop in a patient after liver transplantation. 38
30868732 2019
30
Successful treatment with 2-chlorodeoxyadenosine of refractory pediatric Langerhans cell histiocytosis with initial involvement of the gastrointestinal tract. 38
31350665 2019
31
Evaluation and Management of the Child and Adult With Fontan Circulation: A Scientific Statement From the American Heart Association. 38
31256636 2019
32
Atypical hemolytic uremic syndrome in a patient with protein-losing enteropathy. 38
31364428 2019
33
Right Ventricular Dominance Is Associated With Inferior Outcomes After the Extracardiac Fontan. 38
31307314 2019
34
DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells. 38
31315900 2019
35
Comparison of the fenestrated and non-fenestrated Fontan procedures: A meta-analysis. 38
31335738 2019
36
Lymphatic endothelial cell immunohistochemical markers for evaluation of the intestinal lymphatic vasculature in dogs with chronic inflammatory enteropathy. 38
31169948 2019
37
Contemporary Outcomes of the Fontan Operation: A Large Single-Institution Cohort. 38
31279788 2019
38
Relation of Fontan Baffle Stroke Volume to Fontan Failure and Lower Exercise Capacity in Patients With an Atriopulmonary Fontan. 38
31027653 2019
39
Novel PLVAP Mutation in Protein Losing Enteropathy. 38
31215290 2019
40
Protein Losing Enteropathy due to Gut Plasmacytoma Polyposis. 38
31205137 2019
41
Haemodynamic profiles in adult Fontan patients: associated haemodynamics and prognosis. 38
30672076 2019
42
Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy. 38
30853196 2019
43
Multisite measurement of regional oxygen saturation in Fontan patients with and without protein-losing enteropathy at rest and during exercise. 38
30795005 2019
44
Protein-losing enteropathy: An uncommon initial manifestation of systemic lupus erythematosus. 38
31155154 2019
45
A rare presentation of hypovolemic shock secondary to Whipple's disease. 38
30694911 2019
46
Clinical Profile, Response to Therapy, and Outcome of Children with Primary Intestinal Lymphangiectasia. 38
31030202 2019
47
A 45-year experience with the Fontan procedure: tachyarrhythmia, an important sign for adverse outcome. 38
31038168 2019
48
Severe Protein-Losing Enteropathy Due to an Indolent Splenic Lymphoma: Case Report and Review of the Literature. 38
30685184 2019
49
Successful childbirth in a Fontan with protein losing enteropathy. 38
30968802 2019
50
Morphology and Function of the Lymphatic Vasculature in Patients With a Fontan Circulation. 38
30943769 2019

Variations for Protein-Losing Enteropathy

ClinVar genetic disease variations for Protein-Losing Enteropathy:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 1:207495153-207495153 1:207321808-207321808
2 CD55 NM_000574.5(CD55): c.110del (p.Gly37fs) deletion Pathogenic rs1135402915 1:207495736-207495736 1:207322391-207322391
3 CD55 NM_000574.5(CD55): c.149_150delinsCCTT (p.Glu50fs) indel Pathogenic rs1135402916 1:207495775-207495776 1:207322430-207322431
4 CD55 NM_000574.5(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 1:207504588-207504588 1:207331243-207331243
5 CD55 NM_000574.5(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 1:207497903-207497903 1:207324558-207324558
6 XDH NM_000379.4(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 2:31562482-31562482 2:31339616-31339616
7 XDH NM_000379.4(XDH): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance 2:31602803-31602803 2:31379937-31379937

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-Golgi intermediate compartment membrane GO:0033116 9.16 SERPINA1 CD55
2 extracellular exosome GO:0070062 9.02 SERPINA1 PLVAP MPI CD55 ALB
3 platelet alpha granule lumen GO:0031093 8.96 SERPINA1 ALB

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

# Name GO ID Score Top Affiliating Genes
1 neutrophil degranulation GO:0043312 8.8 SERPINA1 DGAT1 CD55

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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