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Abnormal rectum morphology

MedGen UID:
1757949
Concept ID:
C5399764
Anatomical Abnormality
Synonyms: Abnormality of the rectum; Anomaly of the rectum
 
HPO: HP:0002034

Definition

An abnormaltiy of the rectum, the final segment of the large intestine that stores solid waste until it passes through the anus. [from HPO]

Conditions with this feature

Hyperphosphatasia with intellectual disability syndrome 1
MedGen UID:
1647044
Concept ID:
C4551502
Disease or Syndrome
Hyperphosphatasia with impaired intellectual development syndrome-1 (HPMRS1) is an autosomal recessive disorder characterized by impaired intellectual development, various neurologic abnormalities such as seizures and hypotonia, and hyperphosphatasia. Other features include facial dysmorphism and variable degrees of brachytelephalangy (summary by Krawitz et al., 2010). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (610293). Genetic Heterogeneity of Hyperphosphatasia with Impaired Intellectual Development Syndrome See also HPMRS2 (614749), caused by mutation in the PIGO gene (614730) on chromosome 9p13; HPMRS3 (614207), caused by mutation in the PGAP2 gene (615187) on chromosome 11p15; HPMRS4 (615716), caused by mutation in the PGAP3 gene (611801) on chromosome 17q12; HPMRS5 (616025), caused by mutation in the PIGW gene (610275) on chromosome 17q12; and HPMRS6 (616809), caused by mutation in the PIGY gene (610662) on chromosome 4q22. Knaus et al. (2018) provided a review of the main clinical features of the different types of HPMRS, noting that some patients have a distinct pattern of facial anomalies that can be detected by computer-assisted comparison, particularly those with mutations in the PIGV and PGAP3 genes. Individuals with HPMRS have variable increased in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between HPMRS and MCAHS (see, e.g., 614080), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

Professional guidelines

PubMed

King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
Das K, Mohanty S
Indian J Pediatr 2017 Aug;84(8):618-623. Epub 2017 Jun 10 doi: 10.1007/s12098-017-2371-8. PMID: 28600660
Rezvan A, Jakus-Waldman S, Abbas MA, Yazdany T, Nguyen J
Female Pelvic Med Reconstr Surg 2015 Jan-Feb;21(1):8-17. doi: 10.1097/SPV.0000000000000102. PMID: 25185605

Recent clinical studies

Etiology

Miyake Y, Lane GJ, Yamataka A
Semin Pediatr Surg 2022 Dec;31(6):151226. Epub 2022 Nov 16 doi: 10.1016/j.sempedsurg.2022.151226. PMID: 36417783
Pathak M, Saxena AK
J Pediatr Urol 2022 Apr;18(2):142-149. Epub 2022 Jan 19 doi: 10.1016/j.jpurol.2021.12.014. PMID: 35101384
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
Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N
Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400. doi: 10.1002/bdrc.21068. PMID: 25546370
Kluth D
Semin Pediatr Surg 2010 Aug;19(3):201-8. doi: 10.1053/j.sempedsurg.2010.03.005. PMID: 20610193

Diagnosis

King SK, Levitt MA
Clin Perinatol 2022 Dec;49(4):965-979. Epub 2022 Oct 9 doi: 10.1016/j.clp.2022.08.002. PMID: 36328611
Baalaan KP, Gurunathan N
Pan Afr Med J 2022;41:143. Epub 2022 Feb 17 doi: 10.11604/pamj.2022.41.143.33419. PMID: 35519164Free PMC Article
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
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
Herman RS, Teitelbaum DH
Clin Perinatol 2012 Jun;39(2):403-22. doi: 10.1016/j.clp.2012.04.001. PMID: 22682388

Therapy

Shen B
Dis Colon Rectum 2024 Jun 1;67(S1):S52-S69. Epub 2024 Jan 25 doi: 10.1097/DCR.0000000000003269. PMID: 38276962
Niu Y, Zhang J, Shi D, Zang W, Niu J
Molecules 2023 Jul 4;28(13) doi: 10.3390/molecules28135210. PMID: 37446872Free 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
Camilleri M, Ford AC, Mawe GM, Dinning PG, Rao SS, Chey WD, Simrén M, Lembo A, Young-Fadok TM, Chang L
Nat Rev Dis Primers 2017 Dec 14;3:17095. doi: 10.1038/nrdp.2017.95. PMID: 29239347
Dasgupta R, Langer JC
Curr Probl Surg 2004 Dec;41(12):942-88. doi: 10.1067/j.cpsurg.2004.09.004. PMID: 15614238

Prognosis

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
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
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

Clinical prediction guides

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
Kapur RP, Ambartsumyan L, Smith C
Pediatr Dev Pathol 2020 Jan-Feb;23(1):60-71. Epub 2019 Nov 20 doi: 10.1177/1093526619889434. PMID: 31747832
Kim JH, Kinugasa Y, Hwang SE, Murakami G, Rodríguez-Vázquez JF, Cho BH
Surg Radiol Anat 2015 Mar;37(2):187-97. Epub 2014 Jul 10 doi: 10.1007/s00276-014-1336-0. PMID: 25008480
Levitt MA, Peña A
Orphanet J Rare Dis 2007 Jul 26;2:33. doi: 10.1186/1750-1172-2-33. PMID: 17651510Free PMC Article
Yang XM, Partanen K, Farin P, Soimakallio S
Acta Radiol 1995 Sep;36(5):460-8. PMID: 7640087

Recent systematic reviews

Shen B
Dis Colon Rectum 2024 Jun 1;67(S1):S52-S69. Epub 2024 Jan 25 doi: 10.1097/DCR.0000000000003269. PMID: 38276962
Tang Y, Liu Z, Tang L, Zhang R, Lu Y, Liang J, Zou Z, Zhou C, Wang Y
Urol Int 2018;100(1):57-65. Epub 2017 Oct 30 doi: 10.1159/000484144. PMID: 29084410
Marlicz W, Skonieczna-Żydecka K, Yung DE, Loniewski I, Koulaouzidis A
Dig Liver Dis 2017 Oct;49(10):1073-1085. Epub 2017 Aug 9 doi: 10.1016/j.dld.2017.07.015. PMID: 28847471
Wijers CH, van Rooij IA, Marcelis CL, Brunner HG, de Blaauw I, Roeleveld N
Birth Defects Res C Embryo Today 2014 Dec;102(4):382-400. doi: 10.1002/bdrc.21068. PMID: 25546370
O'Donnell AM, Puri P
Pediatr Surg Int 2010 Nov;26(11):1065-9. doi: 10.1007/s00383-010-2692-4. PMID: 20714729

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