Details of Disease

General Information of Disease (ID: DISM3WQO)

Disease Name Protein-losing enteropathy
Synonyms
enteropathy, PROTEIN-losing; CHAPLE; complement hyperactivation, Angiopathic thrombosis, and Protein-losing enteropathy; complement hyperactivation, ANGIOPATHIC thrombosis, and PROTEIN-losing enteropathy; enteropathy, exudative; exudative enteropathy; protein-losing enteropathy (disease); protein-losing enteropathy
Disease Class DA96: Protein-losing enteropathy
Definition
Pathological conditions in the intestines that are characterized by the gastrointestinal loss of serum proteins, including serum albumin; immunoglobulins; and at times lymphocytes. Severe condition can result in hypogammaglobulinemia or lymphopenia. Protein-losing enteropathies are associated with a number of diseases including intestinal lymphangiectasis; whipple'S disease; and neoplasms of the small intestine.
Disease Hierarchy
DISYKSRF: Genetic disease
DISGPMUQ: Intestinal disorder
DISM3WQO: Protein-losing enteropathy
ICD Code
ICD-11
ICD-11: DA96
Disease Identifiers
MONDO ID
MONDO_0009174
MESH ID
D011504
UMLS CUI
C0033680
MedGen ID
19522
HPO ID
HP:0002243
Orphanet ID
566175
SNOMED CT ID
22542007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 4 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
DGAT1 TT0GV3R Limited Biomarker [1]
SERPINA1 TTA7UJC Limited Biomarker [2]
CD55 TT5Z9WY Strong Autosomal recessive [3]
CD55 TT5Z9WY Strong Genetic Variation [4]
------------------------------------------------------------------------------------
This Disease Is Related to 3 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
CD55 OTZ3HWTO Strong Autosomal recessive [3]
MPI OTBH6ZK1 Strong Biomarker [5]
PLVAP OTAQGWYA Strong Genetic Variation [6]
------------------------------------------------------------------------------------

References

1 DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells.J Lipid Res. 2019 Oct;60(10):1787-1800. doi: 10.1194/jlr.M094201. Epub 2019 Jul 17.
2 Protein-losing enteropathy in an infant with rotavirus infection.Paediatr Int Child Health. 2018 May;38(2):154-157. doi: 10.1080/20469047.2017.1295011. Epub 2017 Mar 6.
3 CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis. N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.
4 Eculizumab Is Safe and Effective as a Long-term Treatment for Protein-losing Enteropathy Due to CD55 Deficiency.J Pediatr Gastroenterol Nutr. 2019 Mar;68(3):325-333. doi: 10.1097/MPG.0000000000002198.
5 Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.J Pediatr. 1999 Dec;135(6):775-81. doi: 10.1016/s0022-3476(99)70103-4.
6 Mutations in plasmalemma vesicle-associated protein cause severe syndromic protein-losing enteropathy. J Med Genet. 2018 Sep;55(9):637-640. doi: 10.1136/jmedgenet-2018-105262. Epub 2018 Apr 16.