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Ureteral atresia

MedGen UID:
120572
Concept ID:
C0266320
Congenital Abnormality
Synonyms: Atresia of ureter; Congenital atresia of ureter; Impervious ureter
SNOMED CT: Atresia of ureter (49534003); Impervious ureter (204974003); Congenital atresia of ureter (49534003)
 
HPO: HP:0005999

Definition

A developmental defect defined by the failure of the formation of the lumen (tube) of the ureter. [from HPO]

Conditions with this feature

Chromosome 17q12 deletion syndrome
MedGen UID:
482768
Concept ID:
C3281138
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).
Renal-hepatic-pancreatic dysplasia 1
MedGen UID:
811626
Concept ID:
C3715199
Disease or Syndrome
Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene.
Vertebral, cardiac, renal, and limb defects syndrome 3
MedGen UID:
1709064
Concept ID:
C5394250
Disease or Syndrome
Vertebral, cardiac, renal, and limb defects syndrome-3 (VCRL3) is an autosomal recessive disorder characterized by severe cardiac and renal anomalies that are lethal in infancy, including hypoplastic or absent left ventricle, transposition of the great arteries, absent pulmonary trunk, and hypoplastic or absent kidneys. Patients also exhibit vertebral segmentation defects and shortening of the proximal long bones or micromelia (Szot et al., 2020). For a discussion of genetic heterogeneity of VCRL, see VCRL1 (617660).

Professional guidelines

PubMed

Capone V, Persico N, Berrettini A, Decramer S, De Marco EA, De Palma D, Familiari A, Feitz W, Herthelius M, Kazlauskas V, Liebau M, Manzoni G, Maternik M, Mosiello G, Schanstra JP, Vande Walle J, Wühl E, Ylinen E, Zurowska A, Schaefer F, Montini G
Nat Rev Urol 2022 May;19(5):295-303. Epub 2022 Feb 8 doi: 10.1038/s41585-022-00563-8. PMID: 35136187
Yalçınkaya F, Özçakar ZB
Pediatr Nephrol 2020 Dec;35(12):2231-2239. Epub 2019 Dec 6 doi: 10.1007/s00467-019-04420-6. PMID: 31811536
Subcommittee on Urinary Tract Infection, Steering Committee on Quality Improvement and Management, Roberts KB
Pediatrics 2011 Sep;128(3):595-610. Epub 2011 Aug 28 doi: 10.1542/peds.2011-1330. PMID: 21873693

Recent clinical studies

Prognosis

Zundel S, Szavay P, Schaefer JF, Amon O, Fuchs J
J Pediatr Urol 2011 Oct;7(5):576-8. Epub 2011 Mar 12 doi: 10.1016/j.jpurol.2011.02.002. PMID: 21398184
Kurokawa Y, Kanayama HO, Anwar A, Fukumori T, Yamamoto Y, Takahashi M, Kagawa S, Murakami Y, Terachi T
Int J Urol 2002 Nov;9(11):613-7. doi: 10.1046/j.1442-2042.2002.00534.x. PMID: 12534902
Madjar S, Bader D, Abend-Weinger M, Moskovitz B
J Perinatol 1997 Mar-Apr;17(2):166-7. PMID: 9134520
Cole BR, Kaufman RL, McAlister WH, Kissane JM
Clin Nephrol 1976 Feb;5(2):83-7. PMID: 1253459

Clinical prediction guides

Mesrobian HG, Rushton HG, Bulas D
J Urol 1993 Aug;150(2 Pt 2):793-4. doi: 10.1016/s0022-5347(17)35615-x. PMID: 8326648

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