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Biliary tract abnormality

MedGen UID:
108201
Concept ID:
C0549613
Finding
Synonyms: Biliary tract disease; biliary tract disorder; biliary tree disease; biliary tree disease or disorder; disease of biliary tree; disease or disorder of biliary tree; disorder of biliary tree
 
HPO: HP:0001080
Monarch Initiative: MONDO:0004868

Definition

An abnormality of the biliary tree. [from HPO]

Conditions with this feature

Dubin-Johnson syndrome
MedGen UID:
7181
Concept ID:
C0022350
Disease or Syndrome
Dubin-Johnson syndrome (DJS) is an autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function (summary by Wada et al., 1998).
Peutz-Jeghers syndrome
MedGen UID:
18404
Concept ID:
C0031269
Disease or Syndrome
Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.
Roberts-SC phocomelia syndrome
MedGen UID:
95931
Concept ID:
C0392475
Disease or Syndrome
ESCO2 spectrum disorder is characterized by mild-to-severe prenatal growth restriction, limb malformations (which can include bilateral symmetric tetraphocomelia or hypomelia caused by mesomelic shortening), hand anomalies (including oligodactyly, thumb aplasia or hypoplasia, and syndactyly), elbow and knee flexion contractures (involving elbows, wrists, knees, ankles, and feet [talipes equinovarus]), and craniofacial abnormalities (which can include bilateral cleft lip and/or cleft palate, micrognathia, widely spaced eyes, exophthalmos, downslanted palpebral fissures, malar flattening, and underdeveloped ala nasi), ear malformation, and corneal opacities. Intellectual disability (ranging from mild to severe) is common. Early mortality is common among severely affected pregnancies and newborns; mildly affected individuals may survive to adulthood.
Renal cysts and diabetes syndrome
MedGen UID:
96569
Concept ID:
C0431693
Disease or Syndrome
The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years).
Peters plus syndrome
MedGen UID:
163204
Concept ID:
C0796012
Disease or Syndrome
Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, characteristic facial features, cleft lip/palate, and variable developmental delay / intellectual disability. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; intellectual disability can range from mild to severe.
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).
MHC class II deficiency
MedGen UID:
444051
Concept ID:
C2931418
Disease or Syndrome
A rare autosomal recessive primary immunodeficiency characterized by absence of HLA class II molecules on the surface of immune cells, leading to severely impaired cellular and humoral immune response to foreign antigens, severe CD4+ T-cell lymphopenia, and hypogammaglobulinemia. The disease clinically manifests with early onset of severe and recurrent infections mainly of the respiratory and gastrointestinal tract, protracted diarrhea with failure to thrive, and autoimmune disease, and is frequently fatal in childhood.
Bardet-Biedl syndrome 1
MedGen UID:
422452
Concept ID:
C2936862
Disease or Syndrome
Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl Syndrome BBS2 (615981) is caused by mutation in a gene on 16q13 (606151); BBS3 (600151), by mutation in the ARL6 gene on 3q11 (608845); BBS4 (615982), by mutation in a gene on 15q22 (600374); BBS5 (615983), by mutation in a gene on 2q31 (603650); BBS6 (605231), by mutation in the MKKS gene on 20p12 (604896); BBS7 (615984), by mutation in a gene on 4q27 (607590); BBS8 (615985), by mutation in the TTC8 gene on 14q32 (608132); BBS9 (615986), by mutation in a gene on 7p14 (607968); BBS10 (615987), by mutation in a gene on 12q21 (610148); BBS11 (615988), by mutation in the TRIM32 gene on 9q33 (602290); BBS12 (615989), by mutation in a gene on 4q27 (610683); BBS13 (615990), by mutation in the MKS1 gene (609883) on 17q23; BBS14 (615991), by mutation in the CEP290 gene (610142) on 12q21, BBS15 (615992), by mutation in the WDPCP gene (613580) on 2p15; BBS16 (615993), by mutation in the SDCCAG8 gene (613524) on 1q43; BBS17 (615994), by mutation in the LZTFL1 gene (606568) on 3p21; BBS18 (615995), by mutation in the BBIP1 gene (613605) on 10q25; BBS19 (615996), by mutation in the IFT27 gene (615870) on 22q12; BBS20 (619471), by mutation in the IFT172 gene (607386) on 9p21; BBS21 (617406), by mutation in the CFAP418 gene (614477) on 8q22; and BBS22 (617119), by mutation in the IFT74 gene (608040) on 9p21. The CCDC28B gene (610162) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67; 609884), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes. Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene (608845.0002) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene (209901.0001). Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (613464), caused by TTC8 mutation, and RP55 (613575), caused by ARL6 mutation.

Professional guidelines

PubMed

Brown ZJ, Baghdadi A, Kamel I, Labiner HE, Hewitt DB, Pawlik TM
HPB (Oxford) 2023 Jan;25(1):14-25. Epub 2022 Oct 5 doi: 10.1016/j.hpb.2022.09.010. PMID: 36257874
Fawaz R, Baumann U, Ekong U, Fischler B, Hadzic N, Mack CL, McLin VA, Molleston JP, Neimark E, Ng VL, Karpen SJ
J Pediatr Gastroenterol Nutr 2017 Jan;64(1):154-168. doi: 10.1097/MPG.0000000000001334. PMID: 27429428
Guay-Woodford LM, Bissler JJ, Braun MC, Bockenhauer D, Cadnapaphornchai MA, Dell KM, Kerecuk L, Liebau MC, Alonso-Peclet MH, Shneider B, Emre S, Heller T, Kamath BM, Murray KF, Moise K, Eichenwald EE, Evans J, Keller RL, Wilkins-Haug L, Bergmann C, Gunay-Aygun M, Hooper SR, Hardy KK, Hartung EA, Streisand R, Perrone R, Moxey-Mims M
J Pediatr 2014 Sep;165(3):611-7. Epub 2014 Jul 9 doi: 10.1016/j.jpeds.2014.06.015. PMID: 25015577Free PMC Article

Recent clinical studies

Etiology

Bhatia SS, Spector S, Echenique A, Froud T, Suthar R, Lawson I, Dalal R, Dinh V, Yrizarry J, Narayanan G
Cardiovasc Intervent Radiol 2015 Aug;38(4):922-8. Epub 2014 Nov 13 doi: 10.1007/s00270-014-1020-0. PMID: 25392237
Scarpa MG, Gamba PG, Greggio NA, Chiarenza SF, Fasoli L, Musi L, Zanon GF
Pediatr Med Chir 2008 Jan-Feb;30(1):45-7. PMID: 18491679
Hertzberg BS, Kliewer MA, Bowie JD, McNally PJ
Radiology 1998 Sep;208(3):795-8. doi: 10.1148/radiology.208.3.9722862. PMID: 9722862
Benhamou Y, Caumes E, Gerosa Y, Cadranel JF, Dohin E, Katlama C, Amouyal P, Canard JM, Azar N, Hoang C
Dig Dis Sci 1993 Jun;38(6):1113-8. doi: 10.1007/BF01295729. PMID: 8389687

Diagnosis

Huang XZ, Liu J
J Med Ultrason (2001) 2023 Apr;50(2):263-264. Epub 2023 Feb 11 doi: 10.1007/s10396-023-01287-x. PMID: 36773103
Kim HC, Park SH, Park SI, Shin HC, Park SJ, Kim HH, Kim YT, Bae WK, Kim IY
Abdom Imaging 2004 Jul-Aug;29(4):472-8. Epub 2004 Jan 14 doi: 10.1007/s00261-003-0123-x. PMID: 14716449
Gotohda N, Itano S, Horiki S, Endo A, Nakao A, Terada N, Tanaka N
J Hepatobiliary Pancreat Surg 2000;7(3):327-30. doi: 10.1007/s005340070057. PMID: 10982635
Benhamou Y, Caumes E, Gerosa Y, Cadranel JF, Dohin E, Katlama C, Amouyal P, Canard JM, Azar N, Hoang C
Dig Dis Sci 1993 Jun;38(6):1113-8. doi: 10.1007/BF01295729. PMID: 8389687
Matsumoto J, Shibue T, Hashimoto S
Gastroenterol Jpn 1985 Dec;20(6):577-81. doi: 10.1007/BF02774818. PMID: 3936742

Therapy

Bhatia SS, Spector S, Echenique A, Froud T, Suthar R, Lawson I, Dalal R, Dinh V, Yrizarry J, Narayanan G
Cardiovasc Intervent Radiol 2015 Aug;38(4):922-8. Epub 2014 Nov 13 doi: 10.1007/s00270-014-1020-0. PMID: 25392237
Kim HC, Park SH, Park SI, Shin HC, Park SJ, Kim HH, Kim YT, Bae WK, Kim IY
Abdom Imaging 2004 Jul-Aug;29(4):472-8. Epub 2004 Jan 14 doi: 10.1007/s00261-003-0123-x. PMID: 14716449

Prognosis

Shrestha A, Lama TK
JNMA J Nepal Med Assoc 2013 Apr-Jun;52(190):395-7. PMID: 24362668
Scarpa MG, Gamba PG, Greggio NA, Chiarenza SF, Fasoli L, Musi L, Zanon GF
Pediatr Med Chir 2008 Jan-Feb;30(1):45-7. PMID: 18491679
Hertzberg BS, Kliewer MA, Bowie JD, McNally PJ
Radiology 1998 Sep;208(3):795-8. doi: 10.1148/radiology.208.3.9722862. PMID: 9722862

Clinical prediction guides

Gotohda N, Itano S, Horiki S, Endo A, Nakao A, Terada N, Tanaka N
J Hepatobiliary Pancreat Surg 2000;7(3):327-30. doi: 10.1007/s005340070057. PMID: 10982635

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