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 30 6 15
Protein-Losing Enteropathies 56 45 74
Enteropathy, Exudative 12
Exudative Enteropathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10611
MeSH 45 D011504
SNOMED-CT 69 22542007 66972006
UMLS 74 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 Fibrinolytic Agents and Plasminogen have been mentioned in the context of this disorder. Affiliated tissues include heart, liver and small intestine, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Increased shRNA abundance (Z-score > 2)

Wikipedia : 77 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 205)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ib 33.7 MPI SERPINA1
2 constrictive pericarditis 31.0 ALB SERPINA1
3 polyposis, skin pigmentation, alopecia, and fingernail changes 30.6 ALB SERPINA1
4 tricuspid valve insufficiency 30.4 ALB PTPN11
5 bronchitis 30.4 ALB SERPINA1
6 blind loop syndrome 30.1 ALB SERPINA1
7 hennekam syndrome 30.1 ALB SERPINA1
8 diarrhea 10, protein-losing enteropathy type 12.8
9 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 12.8
10 diarrhea 7, protein-losing enteropathy type 12.8
11 congenital diarrhea 7 with exudative enteropathy 12.1
12 lymphangiectasis 11.6
13 primary intestinal lymphangiectasia 11.6
14 hennekam lymphangiectasia-lymphedema syndrome 3 11.4
15 congenital disorder of glycosylation, type ic 11.3
16 lupus erythematosus 10.8
17 systemic lupus erythematosus 10.8
18 lymphoma 10.6
19 colitis 10.6
20 pericarditis 10.6
21 heart disease 10.5
22 diarrhea 10.5
23 gastroenteritis 10.5
24 eosinophilic gastroenteritis 10.5
25 amyloidosis 10.5
26 eosinophilic enteropathy 10.5
27 thrombosis 10.5
28 crohn's disease 10.5
29 collagenous colitis 10.5
30 ulcerative colitis 10.4
31 connective tissue disease 10.4
32 plastic bronchitis 10.4
33 gaucher's disease 10.4
34 dermatitis 10.4
35 purpura 10.4
36 rheumatoid arthritis 10.3
37 neuroblastoma 10.3
38 arthritis 10.3
39 giardiasis 10.3
40 sarcoma 10.3
41 iron metabolism disease 10.3
42 lymphangiomatosis 10.3
43 cap polyposis 10.3
44 noonan syndrome 1 10.3
45 thrombophilia due to thrombin defect 10.3
46 enterocolitis 10.3
47 dermatitis herpetiformis, familial 10.3
48 langerhans cell histiocytosis 10.3
49 deficiency anemia 10.3
50 lymphedema 10.3

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



Diseases related to Protein-Losing Enteropathy

Symptoms & Phenotypes for Protein-Losing Enteropathy

GenomeRNAi Phenotypes related to Protein-Losing Enteropathy according to GeneCards Suite gene sharing:

27 (show all 19)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-107 9.68 ALG6
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.68 FGFR3
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 9.68 PTPN11
4 Increased shRNA abundance (Z-score > 2) GR00366-A-121 9.68 ALG6 FGFR3 PTPN11
5 Increased shRNA abundance (Z-score > 2) GR00366-A-127 9.68 ALG6
6 Increased shRNA abundance (Z-score > 2) GR00366-A-138 9.68 ALG6 PTPN11
7 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.68 PTPN11
8 Increased shRNA abundance (Z-score > 2) GR00366-A-161 9.68 ALG6
9 Increased shRNA abundance (Z-score > 2) GR00366-A-178 9.68 PTPN11
10 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.68 ALG6 PTPN11
11 Increased shRNA abundance (Z-score > 2) GR00366-A-37 9.68 PTPN11
12 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.68 ALG6
13 Increased shRNA abundance (Z-score > 2) GR00366-A-47 9.68 PTPN11
14 Increased shRNA abundance (Z-score > 2) GR00366-A-52 9.68 FGFR3
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.68 FGFR3
16 Increased shRNA abundance (Z-score > 2) GR00366-A-7 9.68 PTPN11
17 Increased shRNA abundance (Z-score > 2) GR00366-A-78 9.68 PTPN11
18 Increased shRNA abundance (Z-score > 2) GR00366-A-83 9.68 ALG6
19 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.68 FGFR3

Drugs & Therapeutics for Protein-Losing Enteropathy

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

(show all 20)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Fibrinolytic Agents Phase 2
2 Plasminogen Phase 2
3 Tissue Plasminogen Activator Phase 2
4
Heparin Approved, Investigational Phase 1 9005-49-6 772 46507594
5 calcium heparin Phase 1
6
Dopamine Approved 62-31-7, 51-61-6 681
7
Substance P Investigational 33507-63-0 44359816
8 Vasodilator Agents
9 Vasoactive intestinal peptide 40077-57-4
10 Neuroprotective Agents
11 Gastrointestinal Agents
12 neurokinin A
13 Protective Agents
14 Liver Extracts
15 Cardiotonic Agents
16 Dopamine Agents
17 Peripheral Nervous System Agents
18 Sympathomimetics
19 Neurotransmitter Agents
20 Autonomic Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Inhaled Tissue Plasminogen Activator for Acute Plastic Bronchitis Recruiting NCT02315898 Phase 2 Treatment-inhaled tPA
2 Study of ORL-1M (D-mannose) in Patients With CDG-Ib Recruiting NCT03404869 Phase 1, Phase 2 ORL-1M - D-mannose
3 Pilot/Ph I Safety and Efficacy of ODSH in Protein Losing Enteropathy Secondary to 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
4 Plastic Bronchitis and Protein Losing Enteropathy in Children With Single Ventricle Physiology Completed NCT01563757
5 Cholate Clearance in Fontans Recruiting NCT03726229
6 International Lymphatic Disease and Lymphedema Registry Recruiting NCT01336790
7 Lymphatic Function in Patients With a Fontan-Kreutzer Circulation Active, not recruiting NCT03379805
8 Characterizing the Effect of Dopamine on Markers of Lymph Re-circulation in Fontan-associated Protein-losing Enteropathy Enrolling by invitation NCT03322345

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 30

Anatomical Context for Protein-Losing Enteropathy

MalaCards organs/tissues related to Protein-Losing Enteropathy:

42
Heart, Liver, Small Intestine, Colon, Bone, Testes, Breast

Publications for Protein-Losing Enteropathy

Articles related to Protein-Losing Enteropathy:

(show top 50) (show all 675)
# Title Authors Year
1
Severe Protein-Losing Enteropathy Due to an Indolent Splenic Lymphoma: Case Report and Review of the Literature. ( 30685184 )
2019
2
Impact of disease process on post-transplant outcomes: Protein-losing enteropathy in Fontan patients. ( 30558740 )
2019
3
Determination of the Serum Unbound Fraction of Tadalafil in Children with Protein-Losing Enteropathy and Its Specific Binding to Human Serum Proteins in Vitro. ( 30606983 )
2019
4
Comparative pathophysiology and management of protein-losing enteropathy. ( 30762910 )
2019
5
Association of chronic enteropathy activity index, blood urea concentration, and risk of death in dogs with protein-losing enteropathy. ( 30784115 )
2019
6
Multisite measurement of regional oxygen saturation in Fontan patients with or without protein-losing enteropathy at rest and during exercise. ( 30795005 )
2019
7
Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy. ( 30853196 )
2019
8
Reversal of secondary protein-losing enteropathy after surgical revision of a jejunal Roux-en-Y loop in a patient after liver transplantation. ( 30868732 )
2019
9
Small Intestinal Lymphatic Hypoplasia in Three Dogs with Clinical Signs of Protein-losing Enteropathy. ( 29729720 )
2018
10
Protein-Losing Enteropathy in the Setting of Severe Iron Deficiency Anemia. ( 29511696 )
2018
11
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. ( 29661969 )
2018
12
Evaluation by MR Enterocolonography of Lansoprazole-induced Collagenous Colitis Accompanied with Protein-losing Enteropathy. ( 29033425 )
2018
13
Successful Treatment of Protein-Losing Enteropathy and Plastic Bronchitis by Biphasic Cuirass Ventilation in a Patient with Failing Fontan Circulation. ( 29794380 )
2018
14
Alterations in serum amino acid concentrations in dogs with protein-losing enteropathy. ( 29604114 )
2018
15
Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease: Retraction: Erratum. ( 29688991 )
2018
16
Echocardiographic characteristics in Fontan patients before the onset of protein-losing enteropathy or plastic bronchitis. ( 29082544 )
2018
17
Identical twins with XLA requiring differing amounts of 20% subcutaneous immunoglobulin secondary to protein-losing enteropathy. ( 29339123 )
2018
18
A new surgical strategy for medically uncontrolled protein-losing enteropathy after Fontan surgery. ( 29672726 )
2018
19
Protein-losing enteropathy may be an important characteristic manifestation in SjAPgren's syndrome. ( 29532703 )
2018
20
Protein Losing Enteropathy in Hennekam Syndrome. ( 29327272 )
2018
21
Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype. ( 29875123 )
2018
22
Comparison of Clinical Profiles in Patients with Protein-Losing Enteropathy With and Without Fontan Circulation. ( 29789917 )
2018
23
Undetectable antimicrobial plasma concentrations in an HIV-positive patient with protein-losing enteropathy and chylothorax during Mycobacterium genavense and Leishmania abdominal infections. ( 29077870 )
2018
24
Protein-Losing Enteropathy and Plastic Bronchitis After the Fontan Operation. ( 30504504 )
2018
25
Atypical Clinical Presentation of Crohn's Disease with Superior Mesenteric Vein Obstruction and Protein-losing Enteropathy. ( 30210116 )
2018
26
A Case Report of a Young Adult With Progressive Bloody Diarrhea, Protein-Losing Enteropathy, and Extended Polyposis Coli. ( 30205102 )
2018
27
A Rare Complication of Giardiasis in Children: Protein-losing Enteropathy. ( 30408010 )
2018
28
Protein-losing enteropathy secondary to nonocclusive mesenteric ischemia: A case report. ( 30508940 )
2018
29
Protein-losing enteropathy in an infant with rotavirus infection. ( 28263087 )
2018
30
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation. ( 30050362 )
2018
31
Protein-losing enteropathy in an adult with non-ischaemic cardiomyopathy: complete reversal by heart transplantation. ( 30051970 )
2018
32
Successful combined intravenous and subcutaneous immunoglobulin treatment for intractable protein-losing enteropathy in a patient long after Fontan-type operation. ( 30279854 )
2018
33
A man with recurrent hypovolemic shock on anti-programmed cell death protein 1 treatment: Immune-related protein-losing enteropathy. ( 30342309 )
2018
34
Fontan-associated protein-losing enteropathy and post‒heart transplant outcomes: A multicenter study. ( 30391195 )
2018
35
Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency. ( 30418410 )
2018
36
Multiple small intestinal ulcers associated with protein-losing enteropathy secondary to cholesterol crystal embolism:a case report. ( 28781354 )
2017
37
Protein-Losing Enteropathy as a Complication of the Ketogenic Diet. ( 28541008 )
2017
38
Gastrointestinal haemorrhage due to lymphangiectasia caused by protein-losing enteropathy in the Fontan circulation. ( 28651669 )
2017
39
Protein losing enteropathy: comprehensive review of the mechanistic association with clinical and subclinical disease states. ( 28761367 )
2017
40
Protein-losing enteropathy resolved after ventral abdominal hernia repair. ( 28743538 )
2017
41
Acute onset collagenous colitis associated with protein-losing enteropathy. ( 29264009 )
2017
42
Cytomegalovirus-associated protein-losing enteropathy in a healthy man. ( 28802763 )
2017
43
Protein-losing Enteropathy Caused by Spontaneous Reduction of Intussusception with Meckel's Diverticulum. ( 28413865 )
2017
44
Localized gastrointestinal amyloidosis presenting with protein-losing enteropathy and massive hemorrhage. ( 29106288 )
2017
45
An Early Glenn Operation May be Associated with the Later Occurrence of Protein-Losing Enteropathy in Fontan Patients : Association of Early Glenn and Failing Fontan. ( 28534240 )
2017
46
Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease. ( 28060125 )
2017
47
Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases. ( 28420844 )
2017
48
Once More Unto the Breach: A New Treatment Paradigm for Protein-Losing Enteropathy. ( 28619194 )
2017
49
Somatic PTPN11 Mutation in a Child With Neuroblastoma and Protein Losing Enteropathy. ( 29189514 )
2017
50
Bilateral Serous Macular Elevation Associated with Lupus Protein-losing Enteropathy. ( 28540024 )
2017

Variations for Protein-Losing Enteropathy

ClinVar genetic disease variations for Protein-Losing Enteropathy:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 XDH NM_000379.4(XDH): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 31602803: 31602803
2 XDH NM_000379.4(XDH): c.1172C> T (p.Pro391Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 31379937: 31379937
3 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh38 Chromosome 1, 207324558: 207324558
4 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh37 Chromosome 1, 207497903: 207497903
5 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh37 Chromosome 1, 207504588: 207504588
6 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh38 Chromosome 1, 207331243: 207331243
7 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh38 Chromosome 1, 207322430: 207322431
8 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh37 Chromosome 1, 207495775: 207495776
9 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh38 Chromosome 1, 207322391: 207322391
10 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh37 Chromosome 1, 207495736: 207495736
11 XDH NM_000379.3(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 GRCh38 Chromosome 2, 31339616: 31339616
12 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh38 Chromosome 1, 207321808: 207321808
13 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh37 Chromosome 1, 207495153: 207495153
14 XDH NM_000379.3(XDH): c.3647C> A (p.Pro1216His) single nucleotide variant Uncertain significance rs143981573 GRCh37 Chromosome 2, 31562482: 31562482

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 CD55 SERPINA1
2 endoplasmic reticulum GO:0005783 9.02 ALB ALG6 DGAT1 FGFR3 SERPINA1
3 platelet alpha granule lumen GO:0031093 8.96 ALB SERPINA1

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

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor signaling pathway GO:0008543 9.16 FGFR3 PTPN11
2 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 8.96 FGFR3 PTPN11
3 triglyceride metabolic process GO:0006641 8.62 DGAT1 PTPN11

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

# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 8.96 FGFR3 PTPN11
2 1-phosphatidylinositol-3-kinase activity GO:0016303 8.62 FGFR3 PTPN11

Sources for Protein-Losing Enteropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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