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Hypoplasia of the gallbladder

MedGen UID:
488880
Concept ID:
C0345282
Congenital Abnormality
Synonyms: Congenital hypoplasia of gallbladder; Congenital small gallbladder; Hypoplasia of gallbladder; Hypoplastic gallbladder
SNOMED CT: Hypoplasia of gallbladder (93259002); Congenital hypoplasia of gallbladder (93259002); Congenital small gallbladder (93259002)
 
HPO: HP:0005233

Definition

The presence of a hypoplastic gallbladder. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypoplasia of the gallbladder

Conditions with this feature

Martinez-Frias syndrome
MedGen UID:
318628
Concept ID:
C1832443
Disease or Syndrome
The Martinez-Frias syndrome is characterized by pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia, with or without tracheoesophageal fistula. There is considerable phenotypic overlap between Martinez-Frias syndrome and Mitchell-Riley syndrome (MTCHRS; 615710), the latter being characterized by neonatal diabetes in addition to the features of the Martinez-Frias syndrome, but without tracheoesophageal fistula (Smith et al., 2010).

Professional guidelines

PubMed

Di Meglio L, Toscano P, Saccone G, Di Meglio L, Mazzarelli LL, Zullo F, Raffone A, Travaglino A, Locci M, Di Meglio A
Arch Gynecol Obstet 2020 Aug;302(2):377-382. Epub 2020 Jun 12 doi: 10.1007/s00404-020-05641-z. PMID: 32533284
Koukoura O, Kelesidou V, Delianidou M, Athanasiadis A, Dagklis T
J Clin Ultrasound 2019 Jun;47(5):292-297. Epub 2019 Feb 6 doi: 10.1002/jcu.22705. PMID: 30729537
Pottorf BJ, Alfaro L, Hollis HW
Perm J 2013 Spring;17(2):80-3. doi: 10.7812/TPP/12-118. PMID: 23704849Free PMC Article

Recent clinical studies

Etiology

Kim MS, Song M, Kim S, Kim B, Kang W, Kim JY, Myung W, Lee I, Do R, Khera AV, Won HH
Obesity (Silver Spring) 2023 May;31(5):1436-1444. Epub 2023 Apr 4 doi: 10.1002/oby.23722. PMID: 37014069Free PMC Article
Avgerinos KI, Spyrou N, Mantzoros CS, Dalamaga M
Metabolism 2019 Mar;92:121-135. Epub 2018 Nov 13 doi: 10.1016/j.metabol.2018.11.001. PMID: 30445141
Lammert F, Gurusamy K, Ko CW, Miquel JF, Méndez-Sánchez N, Portincasa P, van Erpecum KJ, van Laarhoven CJ, Wang DQ
Nat Rev Dis Primers 2016 Apr 28;2:16024. doi: 10.1038/nrdp.2016.24. PMID: 27121416
Wernberg JA, Lucarelli DD
Surg Clin North Am 2014 Apr;94(2):343-60. Epub 2014 Feb 18 doi: 10.1016/j.suc.2014.01.009. PMID: 24679425
Pi-Sunyer FX
Obes Res 2002 Dec;10 Suppl 2:97S-104S. doi: 10.1038/oby.2002.202. PMID: 12490658

Diagnosis

Yamazaki S, Takahashi Y, Seki H, Ochi Y, Horiuchi I, Kusama Y, Imai S, Kobayashi A
Surgery 2021 Aug;170(2):e5-e6. Epub 2021 Mar 4 doi: 10.1016/j.surg.2021.01.024. PMID: 34238431
Hui CL, Loo ZY
J Hepatobiliary Pancreat Sci 2021 Oct;28(10):825-836. Epub 2021 Mar 16 doi: 10.1002/jhbp.930. PMID: 33639040
Lammert F, Gurusamy K, Ko CW, Miquel JF, Méndez-Sánchez N, Portincasa P, van Erpecum KJ, van Laarhoven CJ, Wang DQ
Nat Rev Dis Primers 2016 Apr 28;2:16024. doi: 10.1038/nrdp.2016.24. PMID: 27121416
McCallum I, Jones MJ, Robinson SJ
Ann R Coll Surg Engl 2014 Sep;96(6):e28-9. doi: 10.1308/003588414X13946184903766. PMID: 25198968Free PMC Article
Alam MT, Qaiser B, Jamaluddin M, Abbas Hussain SM
J Coll Physicians Surg Pak 2011 Jun;21(6):367-8. PMID: 21711996

Therapy

Kim MS, Song M, Kim S, Kim B, Kang W, Kim JY, Myung W, Lee I, Do R, Khera AV, Won HH
Obesity (Silver Spring) 2023 May;31(5):1436-1444. Epub 2023 Apr 4 doi: 10.1002/oby.23722. PMID: 37014069Free PMC Article
Hui CL, Loo ZY
J Hepatobiliary Pancreat Sci 2021 Oct;28(10):825-836. Epub 2021 Mar 16 doi: 10.1002/jhbp.930. PMID: 33639040
Khuroo MS, Rather AA, Khuroo NS, Khuroo MS
World J Gastroenterol 2016 Sep 21;22(35):7973-82. doi: 10.3748/wjg.v22.i35.7973. PMID: 27672292Free PMC Article
Kamisawa T, Takuma K, Anjiki H, Egawa N, Kurata M, Honda G, Tsuruta K, Sasaki T
Clin Gastroenterol Hepatol 2009 Nov;7(11 Suppl):S84-8. doi: 10.1016/j.cgh.2009.08.024. PMID: 19896105
Andrews WC
Clin Obstet Gynaecol 1979 Apr;6(1):3-26. PMID: 383349

Prognosis

Kim MS, Song M, Kim S, Kim B, Kang W, Kim JY, Myung W, Lee I, Do R, Khera AV, Won HH
Obesity (Silver Spring) 2023 May;31(5):1436-1444. Epub 2023 Apr 4 doi: 10.1002/oby.23722. PMID: 37014069Free PMC Article
Avni FE, Garel C, Naccarella N, Franchi-Abella S
Pediatr Radiol 2023 Apr;53(4):602-609. Epub 2022 Aug 1 doi: 10.1007/s00247-022-05457-w. PMID: 35913509
Koukoura O, Kelesidou V, Delianidou M, Athanasiadis A, Dagklis T
J Clin Ultrasound 2019 Jun;47(5):292-297. Epub 2019 Feb 6 doi: 10.1002/jcu.22705. PMID: 30729537
Wernberg JA, Lucarelli DD
Surg Clin North Am 2014 Apr;94(2):343-60. Epub 2014 Feb 18 doi: 10.1016/j.suc.2014.01.009. PMID: 24679425
Rivera-Troche EY, Hartwig MG, Vaslef SN
J Gastrointest Surg 2009 Sep;13(9):1741-3. Epub 2009 Apr 8 doi: 10.1007/s11605-009-0880-0. PMID: 19352782

Clinical prediction guides

Kim MS, Song M, Kim S, Kim B, Kang W, Kim JY, Myung W, Lee I, Do R, Khera AV, Won HH
Obesity (Silver Spring) 2023 May;31(5):1436-1444. Epub 2023 Apr 4 doi: 10.1002/oby.23722. PMID: 37014069Free PMC Article
Suhaini SA, Azidin AH, Cheah CS, Lee Wei Li W, Khoo MS, Ismail NAS, Ali A
Medicina (Kaunas) 2022 Dec 12;58(12) doi: 10.3390/medicina58121833. PMID: 36557034Free PMC Article
Dike PN, Mahmood N, Harpavat S
Curr Opin Pediatr 2021 Oct 1;33(5):515-520. doi: 10.1097/MOP.0000000000001048. PMID: 34369411Free PMC Article
Gupta P, Marodia Y, Bansal A, Kalra N, Kumar-M P, Sharma V, Dutta U, Sandhu MS
World J Gastroenterol 2020 Oct 28;26(40):6163-6181. doi: 10.3748/wjg.v26.i40.6163. PMID: 33177791Free PMC Article
Eriguchi N, Aoyagi S, Tamae T, Kanazawa N, Nagashima J, Nishimura K, Hamada S, Kawabata M, Kodama T
Kurume Med J 2001;48(3):219-21. doi: 10.2739/kurumemedj.48.219. PMID: 11680937

Recent systematic reviews

Chang SC, Eichinger CS, Field P
Eur J Med Res 2024 Mar 18;29(1):181. doi: 10.1186/s40001-024-01771-1. PMID: 38494502Free PMC Article
Pereira R, Singh T, Avramovic J, Baker S, Eslick GD, Cox MR
ANZ J Surg 2019 Nov;89(11):1392-1397. Epub 2019 Mar 5 doi: 10.1111/ans.15041. PMID: 30836441
Darnis B, Mohkam K, Cauchy F, Cazauran JB, Bancel B, Rode A, Ducerf C, Lesurtel M, Mabrut JY
HPB (Oxford) 2018 Nov;20(11):985-991. Epub 2018 Jun 7 doi: 10.1016/j.hpb.2018.04.002. PMID: 29887260
Fusaroli P, Napoleon B, Gincul R, Lefort C, Palazzo L, Palazzo M, Kitano M, Minaga K, Caletti G, Lisotti A
Gastrointest Endosc 2016 Oct;84(4):587-596.e10. Epub 2016 Jun 14 doi: 10.1016/j.gie.2016.06.006. PMID: 27311654
Lamberts MP, Kievit W, Özdemir C, Westert GP, van Laarhoven CJ, Drenth JP
Gastrointest Endosc 2015 Jul;82(1):24-31. Epub 2015 Apr 22 doi: 10.1016/j.gie.2015.01.024. PMID: 25910659

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