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Ureteral agenesis

MedGen UID:
868560
Concept ID:
C4022959
Finding
HPO: HP:0012300

Definition

Failure of the ureter to undergo development. [from HPO]

Conditions with this feature

Thymic-renal-anal-lung dysplasia
MedGen UID:
336425
Concept ID:
C1848812
Congenital Abnormality
This syndrome has characteristics of intrauterine growth retardation, renal dysgenesis and a unilobed or absent thymus. It has been described in three girls born to a nonconsanguineous couple.
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
MedGen UID:
343465
Concept ID:
C1856053
Disease or Syndrome
MARCH is an autosomal recessive lethal congenital disorder characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis. Affected fetuses either die in utero or shortly after birth, and show arthrogryposis and features consistent with anhydramnios. Histologic examination of residual brain tissue shows multinucleated neurons resulting from impaired cytokinesis (summary by Frosk et al., 2017).
Fraser syndrome 2
MedGen UID:
1624349
Concept ID:
C4540036
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.
Fraser syndrome 3
MedGen UID:
1621907
Concept ID:
C4540040
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). For a general phenotypic description and a discussion of genetic heterogeneity of Fraser syndrome, see 219000.
Microcephaly 20, primary, autosomal recessive
MedGen UID:
1641618
Concept ID:
C4693572
Congenital Abnormality

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

Etiology

Wang MS, Li BJ, Huang ZM, Luo Y, Zhang Y, Li K, Zhang KQ, Jin FS, Li YF
Int Urol Nephrol 2015 May;47(5):717-21. Epub 2015 Mar 21 doi: 10.1007/s11255-015-0944-x. PMID: 25794499

Diagnosis

Wang MS, Li BJ, Huang ZM, Luo Y, Zhang Y, Li K, Zhang KQ, Jin FS, Li YF
Int Urol Nephrol 2015 May;47(5):717-21. Epub 2015 Mar 21 doi: 10.1007/s11255-015-0944-x. PMID: 25794499
Mehan DJ, Gonzales JH
Urology 1975 Oct;6(4):476-9. doi: 10.1016/0090-4295(75)90633-0. PMID: 1179570

Clinical prediction guides

Wang MS, Li BJ, Huang ZM, Luo Y, Zhang Y, Li K, Zhang KQ, Jin FS, Li YF
Int Urol Nephrol 2015 May;47(5):717-21. Epub 2015 Mar 21 doi: 10.1007/s11255-015-0944-x. PMID: 25794499
Nistal M, González-Peramato P, Sousa G, García-Cabezas MA, Rodríguez JI, Cajaiba MM
Virchows Arch 2010 Jun;456(6):695-702. Epub 2010 Apr 2 doi: 10.1007/s00428-010-0906-8. PMID: 20361206

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