MCID: ATR053
MIFTS: 20

Atresia of Urethra

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Atresia of Urethra

MalaCards integrated aliases for Atresia of Urethra:

Name: Atresia of Urethra 58
Urethral Atresia 58 6

Characteristics:

Orphanet epidemiological data:

58
atresia of urethra
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q64.3
UMLS via Orphanet 72 C0345345 C1610065
Orphanet 58 ORPHA105

Summaries for Atresia of Urethra

MalaCards based summary : Atresia of Urethra, also known as urethral atresia, is related to vacterl association, x-linked, with or without hydrocephalus and lower urinary tract obstruction, congenital. The drugs Fentanyl and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney and colon.

Related Diseases for Atresia of Urethra

Graphical network of the top 20 diseases related to Atresia of Urethra:



Diseases related to Atresia of Urethra

Symptoms & Phenotypes for Atresia of Urethra

Drugs & Therapeutics for Atresia of Urethra

Drugs for Atresia of Urethra (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 2, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
2 Anesthetics

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Randomized Controlled Trial of Fetal Cystoscopy Versus Vesico-amniotic Shunting in Severe Lower Urinary Tract Obstructions Unknown status NCT01552824 Phase 2
2 Validation of the Standardized Prenatal Clinical Management of Fetuses With Lower Urinary Tract Obstruction (LUTO) Recruiting NCT02315521
3 Fetal Cystoscopy for Severe Lower Urinary Tract Obstruction - a Prospective Trial Terminated NCT02446184

Search NIH Clinical Center for Atresia of Urethra

Genetic Tests for Atresia of Urethra

Anatomical Context for Atresia of Urethra

MalaCards organs/tissues related to Atresia of Urethra:

40
Kidney, Colon

Publications for Atresia of Urethra

Articles related to Atresia of Urethra:

(showing 98, show less)
# Title Authors PMID Year
1
Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities. 61
31955475 2020
2
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. 61
29664229 2019
3
Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. 61
30297116 2019
4
Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy. 61
29772579 2019
5
Long-term renal outcome in infants with congenital lower urinary tract obstruction. 61
29980359 2018
6
Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction. 61
30093259 2018
7
Fetal megacystis: A systematic review. 61
27889224 2017
8
Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. 61
26739350 2016
9
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. 61
26881326 2016
10
End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? 61
26143408 2015
11
Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. 61
24375864 2014
12
Ultrasound diagnosis of fetal renal abnormalities. 61
24524801 2014
13
[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options]. 61
24595911 2014
14
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. 61
25059024 2014
15
Microtomographic analysis of lower urinary tract obstruction. 61
23977847 2013
16
[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. 61
23440659 2013
17
Postmortem high-resolution fetal magnetic resonance imaging in three cases of lower urinary tract obstruction. 61
23752166 2013
18
Urethral atresia and anhydramnios at 18 weeks of gestation can result in normal development. 61
22154830 2012
19
Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. 61
22417229 2012
20
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. 61
21601242 2011
21
Polled Intersex Syndrome with urethral atresia in a goat. 61
21646753 2011
22
Long-term renal and neurodevelopmental outcome in infants with LUTO, with and without fetal intervention. 61
21839591 2011
23
[Transurethral thulium laser urethrotomy for urethral stricture]. 61
21961248 2011
24
Early fetal cystoscopy for first-trimester severe megacystis. 61
21337440 2011
25
Pitfalls and challenges of cloaca repair: how to reduce the need for reoperations. 61
21683231 2011
26
Fetal megacystis: differential diagnosis. 61
21632999 2011
27
Cloacal malformations: lessons learned from 490 cases. 61
20307849 2010
28
Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center. 61
19967749 2010
29
Intestinal reconstruction of the lower urinary tract as a prerequisite for renal transplantation. 61
19076129 2009
30
Acute oligohydramnios: antenatal expression of VURD syndrome? 61
19816002 2009
31
Urinary system birth defects in surgically treated infants in Sarajevo region of Bosnia and Herzegovina. 61
18498261 2008
32
[Preparation of the children with lower urinary tract pathology to the kidney transplantation]. 61
18924524 2008
33
Fetal lower urinary tract obstruction. 61
17761463 2007
34
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation. 61
17385797 2007
35
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. 61
17128566 2006
36
Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more? 61
16148675 2005
37
Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. 61
16135579 2005
38
Urinary ascites without hydronephrosis in a neonate with urethral atresia. 61
16051320 2005
39
Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. 61
15816021 2005
40
[Congenital megacystis in a female fetus. Case report]. 61
16910462 2005
41
Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn. 61
16338878 2005
42
[Prune-belly syndrome prenatal diagnosis]. 61
16607793 2005
43
Spontaneous resolution of prenatal megalourethra. 61
15359404 2004
44
Fetal cystoscopy in the management of fetal obstructive uropathy: experience in a single European centre. 61
14691987 2003
45
Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy? 61
14743324 2003
46
Continent catheterizable urinary conduit constructed from defunctionalized colon. 61
14523877 2003
47
Ultrasonographic prediction of clinical pulmonary hypoplasia: measurement of the chest/trunk-length ratio in fetuses. 61
12687395 2003
48
Reoperative surgery for anorectal anomalies. 61
12728398 2003
49
Early second trimester intervention in a surviving infant with postnatally diagnosed urethral atresia. 61
12352452 2002
50
First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. 61
12001200 2002
51
Outcome analysis of vesicoamniotic shunting in a comprehensive population. 61
11490292 2001
52
Congenital obstructive uropathy: its origin and contribution to end-stage renal disease in children. 61
11533916 2001
53
Urethral atresia: long-term outcome in 6 children who survived the neonatal period. 61
11371953 2001
54
Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. 61
10792102 2000
55
A case of prune belly syndrome. 61
10979181 2000
56
Early fetal megacystis between 11 and 15 weeks of gestation. 61
10658279 1999
57
Long-term outcome in children after antenatal intervention for obstructive uropathies. 61
10437866 1999
58
Agenesis of the penis: patterns of associated malformations. 61
10213046 1999
59
Fraser syndrome associated with anterior urethral atresia. 61
10051174 1999
60
Complete penoscrotal transposition and associated malformations. 61
10525910 1999
61
Long-term survival in a patient with congenital laryngeal atresia and multiple malformations. 61
9716685 1998
62
Posterior urethral valves: inaccuracy of prenatal diagnosis. 61
9708443 1998
63
Postnatal follow-up of hydronephrosis detected by prenatal ultrasound: the natural history. 61
9605611 1998
64
Congenital bladder perforation and urinary ascites caused by posterior urethral valves: a case report. 61
9134519 1997
65
Agenesis of the urinary bladder with cutaneous ectopic ureteric orifice and multiple birth defects. 61
9035215 1997
66
Fetal therapy for obstructive uropathy: diagnosis specific outcomes [corrected]. 61
8683768 1996
67
Penile orthoplasty using dermal grafts in the outpatient setting. 61
8693633 1996
68
Female hypospadias: a case report. 61
8749941 1995
69
["Prune belly" syndrome. Etiopathogenesis and prenatal diagnosis. A case report]. 61
7622779 1995
70
Cloacal and urogenital abnormalities induced by etretinate in mice. 61
8021993 1994
71
Meckel syndrome: what are the minimum diagnostic criteria? 61
8071976 1994
72
[Fetal genitourinary abnormalities associated with oligohydramnios]. 61
8065082 1994
73
Etiology of prune belly syndrome: evidence of megalocystic origin in an early fetus. 61
8159380 1994
74
Urethral atresia with uroperitoneum in a newborn bovine freemartin. 61
8140717 1994
75
Urethral atresia and the prune belly syndrome. Report of 6 cases. 61
8149156 1993
76
A case report: vesico-rectal fistula with ano-urethral atresia. 61
1492804 1992
77
Transpubic-perineal urethral reconstruction in boys using a substitution graft. 61
1404643 1992
78
Oligohydramnios and megacolon in a fetus with vesicorectal fistula and anal-urethral atresia: a case report. 61
1442962 1992
79
Vertebral hypersegmentation in a case of the VATER association. 61
1554011 1992
80
Prune belly syndrome in females: a triad of abdominal musculature deficiency and anomalies of the urinary and genital systems. 61
1825673 1991
81
Evaluation of fetal renal function: unreliability of fetal urinary electrolytes. 61
2197439 1990
82
Long-term survival in an infant with urethral atresia. 61
2299725 1990
83
[Prenatal ultrasound diagnosis in a case of urethral atresia]. 61
2281737 1990
84
Continent urinary diversion in a patient with prune belly syndrome and urethral atresia. 61
2930382 1989
85
Aphallia: its classification and management. 61
2918598 1989
86
Non-invasive management of fetal obstructive uropathy. 61
2902391 1988
87
[Prune belly syndrome. Etiopathogenic considerations in 4 cases]. 61
3447497 1987
88
Partial trisomy 5q and partial monosomy 5q within the same family. 61
4042393 1985
89
Prune belly syndrome and female pseudohermaphroditism. 61
6684768 1983
90
Spectrum of clinical and autopsy findings in trisomy 18 syndrome. 61
7130954 1982
91
[Agenesis of the abdominal musculature with total urethral atresia, a necroptic study. Report of a case]. 61
146246 1977
92
The obstructed bladder syndrome in the neonate. 61
996717 1976
93
[Cystic nephropathy caused by renal dysplasia with urethral atresia]. 61
1223732 1975
94
Massive fetal ascites, urethral atresia, and cytomegalic inclusion disease. 61
4365977 1974
95
Intra-uterine atrophy and gangrene of the lower extremity of the foetus caused by megacystis due to urethral atresia. 61
5568349 1971
96
[An unusual case of urethral atresia in a fetus with multiple malformations]. 61
13663263 1959
97
A pathological study of ureterovesical junctions of two stillborn infants with complete urethral atresia. 61
13278988 1955
98
The origin of amniotic fluid and the bearing on this problem of foetal urethral atresia. 61
15404909 1949

Variations for Atresia of Urethra

ClinVar genetic disease variations for Atresia of Urethra:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FOXF1 NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr)SNV Likely pathogenic 374061 rs1057518868 16:86544455-86544455 16:86510849-86510849

Expression for Atresia of Urethra

Search GEO for disease gene expression data for Atresia of Urethra.

Pathways for Atresia of Urethra

GO Terms for Atresia of Urethra

Sources for Atresia of Urethra

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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