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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).
See: Condition Record
Martinez-Frias syndrome

Professional guidelines

PubMed

Prenatal sonographic diagnosis of biliary tract malformations.
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
Selected topics in pediatric surgery. Current concepts of diagnosis and management.
Bell MJ, Bower RJ, Ternberg JL
Mo Med 1981 Aug;78(8):403-11. PMID: 7278846
TREATMENT OF MALABSORPTION SYNDROME AND EXUDATIVE ENTEROPATHY WITH SYNTHETIC MEDIUM CHAIN TRIGLYCERIDES.
HOLT PR, HASHIM SA, VANITALLIE TB
Am J Gastroenterol 1965 Jun;43:549-59. PMID: 14296654

Recent clinical studies

Etiology

Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study.
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
Obesity and cancer risk: Emerging biological mechanisms and perspectives.
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
Gallstones.
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
Gallbladder cancer.
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
The obesity epidemic: pathophysiology and consequences of obesity.
Pi-Sunyer FX
Obes Res 2002 Dec;10 Suppl 2:97S-104S. doi: 10.1038/oby.2002.202. PMID: 12490658

Diagnosis

Cyst of the gallbladder.
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
Pancreatic Insufficiency and an Absent Gallbladder: Connecting the Dots.
Bronswijk M, Gillard P, van Malenstein H
Gastroenterology 2020 Aug;159(2):e8-e9. Epub 2020 Feb 1 doi: 10.1053/j.gastro.2020.01.040. PMID: 32017909
The "honeycomb" gallbladder.
Robinson DW, Oliphant M, Dyer RB
Abdom Radiol (NY) 2019 Apr;44(4):1627-1628. doi: 10.1007/s00261-018-1850-3. PMID: 30488101
Gallstones.
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
Marshall-Smith syndrome.
Herman TE, Siegel MJ
J Perinatol 2015 Apr;35(4):307-9. doi: 10.1038/jp.2014.224. PMID: 25813678

Therapy

Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study.
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
Portal biliopathy.
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
Pancreaticobiliary maljunction.
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
Iatrogenic biliary stone.
Chong VH
Surg Technol Int 2005;14:147-55. PMID: 16525967
Benign tumors and pseudotumors of the gallbladder. Report of 180 cases.
Christensen AH, Ishak KG
Arch Pathol 1970 Nov;90(5):423-32. PMID: 4319984

Prognosis

Development and validation of a model for early diagnosis of biliary atresia.
Gong Z, Lin L, Lu G, Wan C
BMC Pediatr 2023 Oct 31;23(1):549. doi: 10.1186/s12887-023-04370-x. PMID: 37907911Free PMC Article
Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study.
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
Gallbladder cancer.
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
Gallbladder cancer.
Bartlett DL
Semin Surg Oncol 2000 Sep-Oct;19(2):145-55. doi: 10.1002/1098-2388(200009)19:2<145::aid-ssu7>3.0.co;2-6. PMID: 11126379
Pathogenesis of gallstones.
Carey MC
Am J Surg 1993 Apr;165(4):410-9. doi: 10.1016/s0002-9610(05)80932-8. PMID: 8480873

Clinical prediction guides

Development and validation of a model for early diagnosis of biliary atresia.
Gong Z, Lin L, Lu G, Wan C
BMC Pediatr 2023 Oct 31;23(1):549. doi: 10.1186/s12887-023-04370-x. PMID: 37907911Free PMC Article
Causal effect of adiposity on the risk of 19 gastrointestinal diseases: a Mendelian randomization study.
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
Prediction of Fetal Biliary Atresia Based on Second and Third-Trimester Ultrasound Characteristics.
Zeng K, Yang Z, Chen L, Sun W, Wang Y, Chen C, Cai A
Ultraschall Med 2023 Jun;44(3):307-317. Epub 2022 Mar 8 doi: 10.1055/a-1562-1615. PMID: 35259769
Mitchell-Riley Syndrome: Improving Clinical Outcomes and Searching for Functional Impact of RFX-6 Mutations.
Passone CGB, Vermillac G, Staels W, Besancon A, Kariyawasam D, Godot C, Lambe C, Talbotec C, Girard M, Chardot C, Berteloot L, Hachem T, Lapillonne A, Poidvin A, Storey C, Neve M, Stan C, Dugelay E, Fauret-Amsellem AL, Capri Y, Cavé H, Ybarra M, Chandra V, Scharfmann R, Bismuth E, Polak M, Carel JC, Pigneur B, Beltrand J
Front Endocrinol (Lausanne) 2022;13:802351. Epub 2022 Jun 22 doi: 10.3389/fendo.2022.802351. PMID: 35813646Free PMC Article
Xanthogranulomatous cholecystitis.
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

The natural history and burden of illness of metachromatic leukodystrophy: a systematic literature review.
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
Left-sided gallbladder: a systematic review of a rare biliary anomaly.
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
A systematic review of the anatomical findings of multiple gallbladders.
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
The clinical impact of ultrasound contrast agents in EUS: a systematic review according to the levels of evidence.
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
Value of EGD in patients referred for cholecystectomy: a systematic review and meta-analysis.
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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