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Abnormal intestine morphology

MedGen UID:
1388201
Concept ID:
C4316788
Finding
Synonym: Abnormality of the intestine
 
HPO: HP:0002242

Definition

An abnormality of the intestine. The closely related term enteropathy is used to refer to any disease of the intestine. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal intestine morphology

Conditions with this feature

Protein-losing enteropathy
MedGen UID:
19522
Concept ID:
C0033680
Disease or Syndrome
Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy (CHAPLE) is characterized by abdominal pain and diarrhea, primary intestinal lymphangiectasia, hypoproteinemic edema, and malabsorption. Some patients also exhibit bowel inflammation, recurrent infections associated with hypogammaglobulinemia, and/or angiopathic thromboembolic disease. Patient T lymphocytes show increased complement activation, causing surface deposition of complement and generating soluble C5a (Ozen et al., 2017).
Congenital microvillous atrophy
MedGen UID:
137954
Concept ID:
C0341306
Disease or Syndrome
Diarrhea-2 with microvillus atrophy, with or without cholestasis (DIAR2) is characterized by onset of intractable life-threatening watery diarrhea during infancy. Two forms are recognized: early-onset microvillus inclusion disease (MVID) with diarrhea beginning in the neonatal period, and late-onset, with first symptoms appearing after 3 or 4 months of life. Definite diagnosis is made by transmission electron microscopy demonstrating shortening or absence of apical microvilli with pathognomonic microvillus inclusions in mature enterocytes and peripheral accumulation of periodic acid-Schiff (PAS)-positive granules or vesicles in immature enterocytes (Muller et al., 2008). The natural course of MVID is often fatal, but partial or total weaning from parenteral nutrition has been described. For a discussion of genetic heterogeneity of diarrhea, see DIAR1 (214700).
Homozygous 11P15-p14 deletion syndrome
MedGen UID:
338336
Concept ID:
C1847866
Disease or Syndrome
Combined immunodeficiency due to CD3gamma deficiency
MedGen UID:
816437
Concept ID:
C3810107
Disease or Syndrome
Immunodeficiency-17 (IMD17) is an autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. Some patients have onset of severe recurrent infections in early infancy that may be lethal, whereas others may be only mildly affected or essentially asymptomatic into young adulthood. More severely affected patients may have evidence of autoimmune disease or enteropathy. The immunologic pattern is similar among patients, showing partial T-cell lymphopenia, particularly of cytotoxic CD8 (see 186910)-positive cells, decreased amounts of the CD3 complex, and impaired proliferative responses to T-cell receptor (TCR)-dependent stimuli. B cells, natural killer (NK) cells, and immunoglobulins are usually normal. Although thymic output of functional naive T cells early in life is decreased, polyclonal expansion of functional memory T cells is substantial. The phenotype in some patients is reminiscent of severe combined immunodeficiency (SCID) (summary by Timon et al. (1993) and Recio et al. (2007)).
STAT3-related early-onset multisystem autoimmune disease
MedGen UID:
863232
Concept ID:
C4014795
Disease or Syndrome
Infantile-onset multisystem autoimmune disease-1 is characterized by early childhood onset of a spectrum of autoimmune disorders affecting multiple organs. Common manifestations include insulin-dependent diabetes mellitus and autoimmune enteropathy, or celiac disease, and autoimmune hematologic disorders. Other features include short stature and nonspecific dermatitis. More variable features include hypothyroidism, autoimmune arthritis, and delayed puberty. Some patients may show recurrent infections. The disorder results from an inborn error of cytokine signaling (summary by Flanagan et al., 2014 and Milner et al., 2015). Genetic Heterogeneity of Infantile-Onset Multisystem Autoimmune Disease See also ADMIO2 (617006), caused by mutation in the ZAP70 gene (176947) on chromosome 2q12, and ADMIO3 (620430), caused by mutation in the CBLB gene (604491) on chromosome 3q13.
Inflammatory bowel disease 30
MedGen UID:
1737985
Concept ID:
C5436750
Disease or Syndrome
Inflammatory bowel disease-30 (IBD30) is characterized by abdominal pain and watery or bloody diarrhea, with changes in the intestinal tract consistent with Crohn disease (Mao et al., 2018). For a general description and a discussion of genetic heterogeneity of inflammatory bowel disease, including Crohn disease (CD) and ulcerative colitis (UC), see IBD1 (266600).

Professional guidelines

PubMed

Pafili K, Roden M
Mol Metab 2021 Aug;50:101122. Epub 2020 Nov 19 doi: 10.1016/j.molmet.2020.101122. PMID: 33220492Free PMC Article
Miehlke S, Verhaegh B, Tontini GE, Madisch A, Langner C, Münch A
Lancet Gastroenterol Hepatol 2019 Apr;4(4):305-314. doi: 10.1016/S2468-1253(19)30048-2. PMID: 30860066
Long B, Robertson J, Koyfman A
J Emerg Med 2019 Feb;56(2):166-176. Epub 2018 Dec 6 doi: 10.1016/j.jemermed.2018.10.024. PMID: 30527563

Recent clinical studies

Etiology

Tonni G, Koçak Ç, Grisolia G, Rizzo G, Araujo Júnior E, Werner H, Ruano R, Sepulveda W, Bonasoni MP, Lituania M; “International Perinatology Research Group (IPRG)”
Fetal Pediatr Pathol 2023 Aug;42(4):651-674. Epub 2023 May 17 doi: 10.1080/15513815.2023.2206905. PMID: 37195727
Solomon BD
Am J Med Genet C Semin Med Genet 2018 Dec;178(4):440-446. doi: 10.1002/ajmg.c.31664. PMID: 30580478
Wang C, Li L, Cheng W
Pediatr Surg Int 2015 Sep;31(9):795-804. Epub 2015 Apr 22 doi: 10.1007/s00383-015-3685-0. PMID: 25899933
Agrawal S, Memon A
BMJ Case Rep 2010 Oct 6;2010 doi: 10.1136/bcr.12.2009.2594. PMID: 22778111Free PMC Article
Kluth D
Semin Pediatr Surg 2010 Aug;19(3):201-8. doi: 10.1053/j.sempedsurg.2010.03.005. PMID: 20610193

Diagnosis

Rich BS, Bornstein E, Dolgin SE
Pediatr Rev 2022 May 1;43(5):266-274. doi: 10.1542/pir.2021-005177. PMID: 35490204
Vinocur DN, Lee EY, Eisenberg RL
AJR Am J Roentgenol 2012 Jan;198(1):W1-10. doi: 10.2214/AJR.11.6931. PMID: 22194504
Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article
Gosche JR, Vick L, Boulanger SC, Islam S
Surg Clin North Am 2006 Apr;86(2):285-99,viii. doi: 10.1016/j.suc.2005.12.014. PMID: 16580924

Therapy

Stiles LI, Ferrao K, Mehta KJ
Clin Exp Med 2024 Feb 17;24(1):38. doi: 10.1007/s10238-024-01302-6. PMID: 38367035Free PMC Article
Divarci E, Ergun O
Pediatr Surg Int 2020 Apr;36(4):431-445. Epub 2020 Feb 21 doi: 10.1007/s00383-020-04629-9. PMID: 32086570
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Gupta S, Tiwari P, Gupta N, Nunia V, Saxena AK, Simlot A, Kothari SL, Suravajhala P, Medicherla KM, Mathur P
Curr Pediatr Rev 2019;15(4):259-264. doi: 10.2174/1573396315666190829155930. PMID: 31465285Free PMC Article
Mayer EA, Savidge T, Shulman RJ
Gastroenterology 2014 May;146(6):1500-12. Epub 2014 Feb 28 doi: 10.1053/j.gastro.2014.02.037. PMID: 24583088Free PMC Article

Prognosis

Leboulanger N, Garabédian EN
Orphanet J Rare Dis 2011 Dec 7;6:81. doi: 10.1186/1750-1172-6-81. PMID: 22151899Free PMC Article
Agrawal S, Memon A
BMJ Case Rep 2010 Oct 6;2010 doi: 10.1136/bcr.12.2009.2594. PMID: 22778111Free PMC Article
Kluth D
Semin Pediatr Surg 2010 Aug;19(3):201-8. doi: 10.1053/j.sempedsurg.2010.03.005. PMID: 20610193
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article
Rintala R, Rapola J, Louhimo I
Prog Pediatr Surg 1989;24:186-92. doi: 10.1007/978-3-642-74493-8_20. PMID: 2513603

Clinical prediction guides

Dworschak GC, Reutter HM, Ludwig M
Orphanet J Rare Dis 2021 Apr 9;16(1):167. doi: 10.1186/s13023-021-01799-0. PMID: 33836786Free PMC Article
Rogers BB
Pediatr Dev Pathol 2020 Jan-Feb;23(1):3. Epub 2019 Dec 10 doi: 10.1177/1093526619893138. PMID: 31822165
Ambartsumyan L, Smith C, Kapur RP
Pediatr Dev Pathol 2020 Jan-Feb;23(1):8-22. Epub 2019 Dec 2 doi: 10.1177/1093526619892351. PMID: 31791203
Gosain A, Brinkman AS
Curr Opin Pediatr 2015 Jun;27(3):364-9. doi: 10.1097/MOP.0000000000000210. PMID: 25944307Free PMC Article
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article

Recent systematic reviews

Bettenworth D, Bokemeyer A, Baker M, Mao R, Parker CE, Nguyen T, Ma C, Panés J, Rimola J, Fletcher JG, Jairath V, Feagan BG, Rieder F; Stenosis Therapy and Anti-Fibrotic Research (STAR) Consortium.
Gut 2019 Jun;68(6):1115-1126. Epub 2019 Apr 3 doi: 10.1136/gutjnl-2018-318081. PMID: 30944110Free PMC Article
Hansen CC, Søreide K
Medicine (Baltimore) 2018 Aug;97(35):e12154. doi: 10.1097/MD.0000000000012154. PMID: 30170459Free PMC Article
Srisajjakul S, Prapaisilp P, Bangchokdee S
Clin Imaging 2016 Nov-Dec;40(6):1173-1181. Epub 2016 Aug 6 doi: 10.1016/j.clinimag.2016.08.007. PMID: 27572283
Page R, Ferraro ZM, Moretti F, Fung KF
J Pregnancy 2014;2014:239406. Epub 2014 Dec 22 doi: 10.1155/2014/239406. PMID: 25587450Free PMC Article
Heloury Y, Muthucumaru M, Panabokke G, Cheng W, Kimber C, Leclair MD
J Pediatr Surg 2012 Feb;47(2):415-21. doi: 10.1016/j.jpedsurg.2011.08.003. PMID: 22325405

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