MCID: PRT019
MIFTS: 40

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 73
Enteropathy, Exudative 12
Exudative Enteropathy 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10611
MeSH 44 D011504
SNOMED-CT 68 22542007 66972006
UMLS 73 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 Tissue Plasminogen Activator and Plasminogen have been mentioned in the context of this disorder. Affiliated tissues include heart, bone and small intestine.

Wikipedia : 76 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 212)
# Related Disease Score Top Affiliating Genes
1 congenital disorder of glycosylation, type ib 33.6 SERPINA1 MPI
2 constrictive pericarditis 31.0 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 chronic graft versus host disease 30.1 CD79A ALB
8 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 12.8
9 congenital diarrhea 7 with exudative enteropathy 12.0
10 lymphangiectasis 11.6
11 primary intestinal lymphangiectasia 11.6
12 diarrhea 7 11.5
13 congenital disorder of glycosylation, type ic 11.2
14 hennekam lymphangiectasia-lymphedema syndrome 3 11.2
15 lupus erythematosus 10.8
16 systemic lupus erythematosus 10.8
17 lymphoma 10.6
18 colitis 10.6
19 pericarditis 10.6
20 heart disease 10.5
21 diarrhea 10.5
22 gastroenteritis 10.5
23 eosinophilic gastroenteritis 10.5
24 amyloidosis 10.5
25 eosinophilic enteropathy 10.5
26 thrombosis 10.5
27 crohn's disease 10.4
28 collagenous colitis 10.4
29 ulcerative colitis 10.4
30 connective tissue disease 10.4
31 plastic bronchitis 10.4
32 gaucher's disease 10.4
33 dermatitis 10.4
34 purpura 10.4
35 tricuspid valve insufficiency 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 food allergy 10.3
43 lymphangiomatosis 10.3
44 cap polyposis 10.3
45 noonan syndrome 1 10.3
46 thrombophilia due to thrombin defect 10.3
47 enterocolitis 10.3
48 dermatitis herpetiformis, familial 10.3
49 langerhans cell histiocytosis 10.3
50 deficiency anemia 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

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

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 International Lymphatic Disease and Lymphedema Registry Recruiting NCT01336790
6 Lymphatic Function in Patients With a Fontan-Kreutzer Circulation Active, not recruiting NCT03379805
7 Characterizing the Effect of Dopamine on Markers of Lymph Re-circulation in Fontan-associated Protein-losing Enteropathy Enrolling by invitation NCT03322345
8 Cholate Clearance in Fontans Not yet recruiting NCT03726229

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

Publications for Protein-Losing Enteropathy

Articles related to Protein-Losing Enteropathy:

(show top 50) (show all 667)
# Title Authors Year
1
Small Intestinal Lymphatic Hypoplasia in Three Dogs with Clinical Signs of Protein-losing Enteropathy. ( 29729720 )
2018
2
Protein-Losing Enteropathy in the Setting of Severe Iron Deficiency Anemia. ( 29511696 )
2018
3
Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. ( 29661969 )
2018
4
Evaluation by MR Enterocolonography of Lansoprazole-induced Collagenous Colitis Accompanied with Protein-losing Enteropathy. ( 29033425 )
2018
5
Successful Treatment of Protein-Losing Enteropathy and Plastic Bronchitis by Biphasic Cuirass Ventilation in a Patient with Failing Fontan Circulation. ( 29794380 )
2018
6
Alterations in serum amino acid concentrations in dogs with protein-losing enteropathy. ( 29604114 )
2018
7
Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease: Retraction: Erratum. ( 29688991 )
2018
8
Echocardiographic characteristics in Fontan patients before the onset of protein-losing enteropathy or plastic bronchitis. ( 29082544 )
2018
9
Identical twins with XLA requiring differing amounts of 20% subcutaneous immunoglobulin secondary to protein-losing enteropathy. ( 29339123 )
2018
10
A new surgical strategy for medically uncontrolled protein-losing enteropathy after Fontan surgery. ( 29672726 )
2018
11
Protein-losing enteropathy may be an important characteristic manifestation in SjAPgren's syndrome. ( 29532703 )
2018
12
Protein Losing Enteropathy in Hennekam Syndrome. ( 29327272 )
2018
13
Establishing the role of <i>PLVAP</i> in protein-losing enteropathy: a homozygous missense variant leads to an attenuated phenotype. ( 29875123 )
2018
14
Comparison of Clinical Profiles in Patients with Protein-Losing Enteropathy With and Without Fontan Circulation. ( 29789917 )
2018
15
Undetectable antimicrobial plasma concentrations in an HIV-positive patient with protein-losing enteropathy and chylothorax during Mycobacterium genavense and Leishmania abdominal infections. ( 29077870 )
2018
16
Protein-Losing Enteropathy and Plastic Bronchitis After the Fontan Operation. ( 30504504 )
2018
17
Atypical Clinical Presentation of Crohn's Disease with Superior Mesenteric Vein Obstruction and Protein-losing Enteropathy. ( 30210116 )
2018
18
A Case Report of a Young Adult With Progressive Bloody Diarrhea, Protein-Losing Enteropathy, and Extended Polyposis Coli. ( 30205102 )
2018
19
A Rare Complication of Giardiasis in Children: Protein-losing Enteropathy. ( 30408010 )
2018
20
Protein-losing enteropathy secondary to nonocclusive mesenteric ischemia: A case report. ( 30508940 )
2018
21
Protein-losing enteropathy in an infant with rotavirus infection. ( 28263087 )
2018
22
Protein-losing enteropathy and joint contractures caused by a novel homozygous ANTXR2 mutation. ( 30050362 )
2018
23
Protein-losing enteropathy in an adult with non-ischaemic cardiomyopathy: complete reversal by heart transplantation. ( 30051970 )
2018
24
Successful combined intravenous and subcutaneous immunoglobulin treatment for intractable protein-losing enteropathy in a patient long after Fontan-type operation. ( 30279854 )
2018
25
A man with recurrent hypovolemic shock on anti-programmed cell death protein 1 treatment: Immune-related protein-losing enteropathy. ( 30342309 )
2018
26
Fontan-associated protein-losing enteropathy and post‒heart transplant outcomes: A multicenter study. ( 30391195 )
2018
27
Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency. ( 30418410 )
2018
28
Multiple small intestinal ulcers associated with protein-losing enteropathy secondary to cholesterol crystal embolism:a case report. ( 28781354 )
2017
29
Protein-Losing Enteropathy as a Complication of the Ketogenic Diet. ( 28541008 )
2017
30
Gastrointestinal haemorrhage due to lymphangiectasia caused by protein-losing enteropathy in the Fontan circulation. ( 28651669 )
2017
31
Protein losing enteropathy: comprehensive review of the mechanistic association with clinical and subclinical disease states. ( 28761367 )
2017
32
Protein-losing enteropathy resolved after ventral abdominal hernia repair. ( 28743538 )
2017
33
Acute onset collagenous colitis associated with protein-losing enteropathy. ( 29264009 )
2017
34
Cytomegalovirus-associated protein-losing enteropathy in a healthy man. ( 28802763 )
2017
35
Protein-losing Enteropathy Caused by Spontaneous Reduction of Intussusception with Meckel's Diverticulum. ( 28413865 )
2017
36
Localized gastrointestinal amyloidosis presenting with protein-losing enteropathy and massive hemorrhage. ( 29106288 )
2017
37
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
38
Massive Mesenteric Lymphadenopathy Causing Protein-losing Enteropathy in Gaucher Disease. ( 28060125 )
2017
39
Protein-losing Enteropathy Caused by Intestinal or Colonic Lymphangiectasia Complicated by Sporadic Lymphangioleiomyomatosis: A Report of Two Cases. ( 28420844 )
2017
40
Once More Unto the Breach: A New Treatment Paradigm for Protein-Losing Enteropathy. ( 28619194 )
2017
41
Somatic PTPN11 Mutation in a Child With Neuroblastoma and Protein Losing Enteropathy. ( 29189514 )
2017
42
Bilateral Serous Macular Elevation Associated with Lupus Protein-losing Enteropathy. ( 28540024 )
2017
43
Dopamine as a potential rescue therapy for refractory protein-losing enteropathy in Fontan-palliated patients. ( 28370952 )
2017
44
CD55 Deficiency and Protein-Losing Enteropathy. ( 29020581 )
2017
45
Investigation of the Influence of Protein-Losing Enteropathy on Monoclonal Antibody Pharmacokinetics in Mice. ( 28849396 )
2017
46
Loss of CD55 in Eculizumab-Responsive Protein-Losing Enteropathy. ( 28657861 )
2017
47
Selenium status and fungi in the protein-losing enteropathy of persistent diarrhea. ( 28625042 )
2017
48
CD55 Deficiency and Protein-Losing Enteropathy. ( 29020582 )
2017
49
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. ( 28657829 )
2017
50
CD55 Deficiency and Protein-Losing Enteropathy. ( 29022673 )
2017

Variations for Protein-Losing Enteropathy

ClinVar genetic disease variations for Protein-Losing Enteropathy:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh38 Chromosome 1, 207324558: 207324558
2 CD55 NM_000574.4(CD55): c.287-1G> A single nucleotide variant Pathogenic rs1135402918 GRCh37 Chromosome 1, 207497903: 207497903
3 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh37 Chromosome 1, 207504588: 207504588
4 CD55 NM_000574.4(CD55): c.800G> C (p.Cys267Ser) single nucleotide variant Pathogenic rs1135402917 GRCh38 Chromosome 1, 207331243: 207331243
5 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh38 Chromosome 1, 207322430: 207322431
6 CD55 NM_000574.4(CD55): c.149_150delAAinsCCTT (p.Glu50Alafs) indel Pathogenic rs1135402916 GRCh37 Chromosome 1, 207495775: 207495776
7 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh38 Chromosome 1, 207322391: 207322391
8 CD55 NM_000574.4(CD55): c.110delG (p.Gly37Alafs) deletion Pathogenic rs1135402915 GRCh37 Chromosome 1, 207495736: 207495736
9 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh38 Chromosome 1, 207321808: 207321808
10 CD55 NM_001114752.1(CD55): c.43delC (p.Leu15Serfs) deletion Pathogenic rs1114167430 GRCh37 Chromosome 1, 207495153: 207495153

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 neutrophil degranulation GO:0043312 8.8 CD55 DGAT1 SERPINA1

Sources for Protein-Losing Enteropathy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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