U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
  • Quoted phrase not found.

Isolated agenesis of gallbladder

MedGen UID:
82736
Concept ID:
C0266251
Congenital Abnormality
Synonyms: Absent gallbladder; Congenital absence of gallbladder; Gallbladder, agenesis of
SNOMED CT: Congenital absence of gallbladder (86507001); Agenesis of gallbladder (302953002)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
HPO: HP:0011467
Monarch Initiative: MONDO:0007642
OMIM®: 137040
Orphanet: ORPHA440987

Definition

A developmental defect in which the gallbladder fails to form. [from HPO]

Clinical features

From HPO
Abnormal abdomen morphology
MedGen UID:
866551
Concept ID:
C4020869
Anatomical Abnormality
A structural abnormality of the abdomen ('belly'), that is, the part of the body between the pelvis and the thorax.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated agenesis of gallbladder

Conditions with this feature

Holoprosencephaly-radial heart renal anomalies syndrome
MedGen UID:
401047
Concept ID:
C1866649
Disease or Syndrome
This syndrome has characteristics of holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. It has been described in two families (with at least seven affected persons). Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula. Inheritance is likely to be autosomal dominant with variable expressivity.
Meckel syndrome, type 6
MedGen UID:
382942
Concept ID:
C2676790
Disease or Syndrome
Because of their serious health problems, most individuals with Meckel syndrome die before or shortly after birth. Most often, affected infants die of respiratory problems or kidney failure.\n\nOther signs and symptoms of Meckel syndrome vary widely among affected individuals. Numerous abnormalities of the brain and spinal cord (central nervous system) have been reported in people with Meckel syndrome, including a group of birth defects known as neural tube defects. These defects occur when a structure called the neural tube, a layer of cells that ultimately develops into the brain and spinal cord, fails to close completely during the first few weeks of embryonic development. Meckel syndrome can also cause problems with development of the eyes and other facial features, heart, bones, urinary system, and genitalia.\n\nMeckel syndrome is a disorder with severe signs and symptoms that affect many parts of the body. The most common features are enlarged kidneys with numerous fluid-filled cysts; an occipital encephalocele, which is a sac-like protrusion of the brain through an opening at the back of the skull; and the presence of extra fingers and toes (polydactyly). Most affected individuals also have a buildup of scar tissue (fibrosis) in the liver.
X-linked intellectual disability-craniofacioskeletal syndrome
MedGen UID:
394716
Concept ID:
C2678036
Disease or Syndrome
X-linked intellectual disability-craniofacioskeletal syndrome is a rare, hereditary, syndromic intellectual disability characterized by craniofacial and skeletal abnormalities in association with mild intellectual disability in females and early postnatal lethality in males. In addition to mild cognitive impairment, females present with microcephaly, short stature, skeletal features and extra temporal lobe gyrus. In males, intrauterine growth impairment, cardiac and urogenital anomalies have been reported.
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
MedGen UID:
411637
Concept ID:
C2748662
Disease or Syndrome
Mitchell-Riley syndrome is characterized by neonatal diabetes, pancreatic hypoplasia, intestinal atresia, and gallbladder aplasia or hypoplasia. There is considerable phenotypic overlap between Mitchell-Riley syndrome and Martinez-Frias syndrome (601346), the latter being characterized by the features of the Mitchell-Riley syndrome except for neonatal diabetes, and including tracheoesophageal fistula in some patients (Smith et al., 2010).
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
MedGen UID:
860891
Concept ID:
C4012454
Congenital Abnormality
A rare, syndromic diabetes mellitus characterized by partial pancreatic agenesis, diabetes mellitus, and heart anomalies (including transposition of the great vessels, ventricular or atrial septal defects, pulmonary stenosis, or patent ductus arteriosis).
ZTTK syndrome
MedGen UID:
934663
Concept ID:
C4310696
Disease or Syndrome
ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).
Short-rib thoracic dysplasia 20 with polydactyly
MedGen UID:
1634931
Concept ID:
C4693616
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330).
Holoprosencephaly 12 with or without pancreatic agenesis
MedGen UID:
1684550
Concept ID:
C5193131
Disease or Syndrome
Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset type 1 diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

Qian Y, Xiao L, Zhang L, Hu T, Wang J, Hu R, Liao N, Liu Z, Wang H, Liu S, Zhang Z
Prenat Diagn 2022 Oct;42(11):1390-1397. Epub 2022 Sep 12 doi: 10.1002/pd.6234. PMID: 36068921
Richter J, Freise S, Mull R, Millán JC
Trop Med Int Health 1999 Nov;4(11):774-81. doi: 10.1046/j.1365-3156.1999.00482.x. PMID: 10588772

Recent clinical studies

Etiology

Ting YH, So PL, Cheung KW, Lo TK, Ma TWL, Leung TY
Hong Kong Med J 2022 Apr;28(2):116-123. Epub 2022 Apr 20 doi: 10.12809/hkmj208938. PMID: 35440515
He M, Xie H, Du L, Lei T, Zhang L
J Matern Fetal Neonatal Med 2022 Dec;35(25):7005-7010. Epub 2021 Sep 1 doi: 10.1080/14767058.2021.1933936. PMID: 34470134
Sagi-Dain L, Singer A, Hadid Y, Sharony R, Vinkler C, Bar-Shira A, Segel R, Ben Shachar S, Maya I
J Matern Fetal Neonatal Med 2019 Aug;32(16):2643-2648. Epub 2018 Feb 28 doi: 10.1080/14767058.2018.1443070. PMID: 29455582
Shen O, Rabinowitz R, Yagel S, Gal M
Ultrasound Obstet Gynecol 2011 Jun;37(6):673-7. Epub 2011 May 9 doi: 10.1002/uog.8861. PMID: 20981875
Bray GA
Endocrinol Metab Clin North Am 1996 Dec;25(4):907-19. doi: 10.1016/s0889-8529(05)70361-3. PMID: 8977052

Diagnosis

Qian Y, Xiao L, Zhang L, Hu T, Wang J, Hu R, Liao N, Liu Z, Wang H, Liu S, Zhang Z
Prenat Diagn 2022 Oct;42(11):1390-1397. Epub 2022 Sep 12 doi: 10.1002/pd.6234. PMID: 36068921
He M, Xie H, Du L, Lei T, Zhang L
J Matern Fetal Neonatal Med 2022 Dec;35(25):7005-7010. Epub 2021 Sep 1 doi: 10.1080/14767058.2021.1933936. PMID: 34470134
Sagi-Dain L, Singer A, Hadid Y, Sharony R, Vinkler C, Bar-Shira A, Segel R, Ben Shachar S, Maya I
J Matern Fetal Neonatal Med 2019 Aug;32(16):2643-2648. Epub 2018 Feb 28 doi: 10.1080/14767058.2018.1443070. PMID: 29455582
Shen O, Rabinowitz R, Yagel S, Gal M
Ultrasound Obstet Gynecol 2011 Jun;37(6):673-7. Epub 2011 May 9 doi: 10.1002/uog.8861. PMID: 20981875
Horrow MM
Ultrasound Q 2010 Jun;26(2):67-74. doi: 10.1097/RUQ.0b013e3181e17516. PMID: 20498562

Therapy

Koole SN, Lohman BG, van Unen JM
Acta Chir Belg 2016 Feb;116(1):54-7. doi: 10.1080/00015458.2016.1139829. PMID: 27385144
Fukita Y, Adachi S, Ishibashi H
Gastroenterology 2014 May;146(5):1175, 1431. Epub 2014 Mar 25 doi: 10.1053/j.gastro.2014.01.064. PMID: 24675575
Jiang K, Su M, Zhao X, Chen Y, Zhang W, Wang J, Dong J, Huang Z
Cell Biochem Biophys 2014 Apr;68(3):547-54. doi: 10.1007/s12013-013-9736-z. PMID: 23979983
Richter J, Freise S, Mull R, Millán JC
Trop Med Int Health 1999 Nov;4(11):774-81. doi: 10.1046/j.1365-3156.1999.00482.x. PMID: 10588772
Van Steenbergen W, Rigauts H, Ponette E, Peetermans W, Pelemans W, Fevery J
J Am Geriatr Soc 1993 Feb;41(2):157-62. doi: 10.1111/j.1532-5415.1993.tb02051.x. PMID: 8426039

Prognosis

Di Pasquo E, Kuleva M, Rousseau A, Vitucci A, Sonigo P, Chardot C, Salomon LJ, Ville Y
Ultrasound Obstet Gynecol 2019 Nov;54(5):582-588. doi: 10.1002/uog.20252. PMID: 30809885
Ruiz A, Robles A, Salva F, Filgueira A, Díaz C, Juan M, Tubau A
Fetal Diagn Ther 2017;42(2):150-152. Epub 2017 Apr 13 doi: 10.1159/000456614. PMID: 28402981
Ronin C, Mace P, Stenard F, Loundou A, Capelle M, Mortier I, Pellissier MC, Sigaudy S, Levy A, D'ercole C, Hoffmann P, Merrot T, Lopater J, De Lagausie P, Philip N, Bretelle F
Eur J Obstet Gynecol Reprod Biol 2017 May;212:166-170. Epub 2017 Mar 3 doi: 10.1016/j.ejogrb.2017.01.060. PMID: 28391132
Bardin R, Ashwal E, Davidov B, Danon D, Shohat M, Meizner I
Fetal Diagn Ther 2016;39(1):50-5. Epub 2015 Jun 3 doi: 10.1159/000430440. PMID: 26043788
Cho CH, Suh KW, Min JS, Kim CK
Yonsei Med J 1992 Dec;33(4):364-7. doi: 10.3349/ymj.1992.33.4.364. PMID: 1309017

Clinical prediction guides

Bhayana R, Som A, Li MD, Carey DE, Anderson MA, Blake MA, Catalano O, Gee MS, Hahn PF, Harisinghani M, Kilcoyne A, Lee SI, Mojtahed A, Pandharipande PV, Pierce TT, Rosman DA, Saini S, Samir AE, Simeone JF, Gervais DA, Velmahos G, Misdraji J, Kambadakone A
Radiology 2020 Oct;297(1):E207-E215. Epub 2020 May 11 doi: 10.1148/radiol.2020201908. PMID: 32391742Free PMC Article
Di Pasquo E, Kuleva M, Rousseau A, Vitucci A, Sonigo P, Chardot C, Salomon LJ, Ville Y
Ultrasound Obstet Gynecol 2019 Nov;54(5):582-588. doi: 10.1002/uog.20252. PMID: 30809885
Bergougnoux A, Jouannic JM, Verneau F, Bienvenu T, Gaitch N, Raynal C, Girodon E
Fetal Diagn Ther 2019;45(5):312-316. Epub 2018 Jun 19 doi: 10.1159/000489120. PMID: 29920495
Ruiz A, Robles A, Salva F, Filgueira A, Díaz C, Juan M, Tubau A
Fetal Diagn Ther 2017;42(2):150-152. Epub 2017 Apr 13 doi: 10.1159/000456614. PMID: 28402981
Cho CH, Suh KW, Min JS, Kim CK
Yonsei Med J 1992 Dec;33(4):364-7. doi: 10.3349/ymj.1992.33.4.364. PMID: 1309017

Recent systematic reviews

Di Pasquo E, Kuleva M, Rousseau A, Vitucci A, Sonigo P, Chardot C, Salomon LJ, Ville Y
Ultrasound Obstet Gynecol 2019 Nov;54(5):582-588. doi: 10.1002/uog.20252. PMID: 30809885

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.
    • Bookshelf
      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...