MCID: ATR053
MIFTS: 25

Atresia of Urethra

Categories: Fetal diseases, Nephrological diseases, Rare diseases
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Aliases & Classifications for Atresia of Urethra

MalaCards integrated aliases for Atresia of Urethra:

Name: Atresia of Urethra 58
Urethral Atresia 58 5

Characteristics:


Age Of Onset:

Antenatal,Neonatal 58

Classifications:

Orphanet: 58  
Rare renal diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 32 Q64.3
UMLS via Orphanet 72 C0345345 C1610065
Orphanet 58 ORPHA105

Summaries for Atresia of Urethra

Orphanet: 58 A rare fetal lower urinary tract obstruction (LUTO) characterized by closure or failure to develop an opening in the urethra and resulting in obstructive uropathy presenting in utero as megacystis, oligohydramnios or anhydramnios, and potter sequence.

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. An important gene associated with Atresia of Urethra is FOXF1 (Forkhead Box F1). Affiliated tissues include kidney and colon, and related phenotypes are renal insufficiency and vesicoureteral reflux

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

Human phenotypes related to Atresia of Urethra:

58 30 (show all 14)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal insufficiency 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000083
2 vesicoureteral reflux 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000076
3 hydronephrosis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000126
4 recurrent urinary tract infections 58 30 Frequent (33%) Frequent (79-30%)
HP:0000010
5 hydroureter 58 30 Frequent (33%) Frequent (79-30%)
HP:0000072
6 oligohydramnios 58 30 Frequent (33%) Frequent (79-30%)
HP:0001562
7 abdominal distention 58 30 Frequent (33%) Frequent (79-30%)
HP:0003270
8 megacystis 58 30 Frequent (33%) Frequent (79-30%)
HP:0000021
9 bladder fistula 58 30 Frequent (33%) Frequent (79-30%)
HP:0004321
10 patent urachus 58 30 Frequent (33%) Frequent (79-30%)
HP:0010479
11 ascites 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001541
12 renal dysplasia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000110
13 pulmonary insufficiency 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0010444
14 dilatation of the bladder 58 Frequent (79-30%)

Drugs & Therapeutics for Atresia of Urethra

Search Clinical Trials, NIH Clinical Center for Atresia of Urethra

Genetic Tests for Atresia of Urethra

Anatomical Context for Atresia of Urethra

Organs/tissues related to Atresia of Urethra:

MalaCards : Kidney, Colon

Publications for Atresia of Urethra

Articles related to Atresia of Urethra:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Technical details and long-term outcomes of P.A.D.U.A. for congenital urethral narrowing; a case series and review of the literature. 62
36424292 2022
2
Collateral Damage From Fetal Interventions: Increasing the Complexity of Complex Patients. 62
35623501 2022
3
Abdominal Evisceration: A Rare Complication of In Utero Vesicoamniotic Shunting. 62
35623499 2022
4
Three new experimental models of anterior urethral stricture in rabbits. 62
35812200 2022
5
Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia. 62
33864313 2021
6
First Case of a Term Male Born with Aphallia and Complete Urethral Atresia. 62
34087315 2021
7
Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties. 62
32978001 2020
8
Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities. 62
31955475 2020
9
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. 62
29664229 2019
10
Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. 62
30297116 2019
11
Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy. 62
29772579 2019
12
Long-term renal outcome in infants with congenital lower urinary tract obstruction. 62
29980359 2018
13
Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction. 62
30093259 2018
14
Fetal megacystis: A systematic review. 62
27889224 2017
15
Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. 62
26739350 2016
16
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. 62
26881326 2016
17
End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? 62
26143408 2015
18
Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. 62
24375864 2014
19
Ultrasound diagnosis of fetal renal abnormalities. 62
24524801 2014
20
[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options]. 62
24595911 2014
21
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. 62
25059024 2014
22
Microtomographic analysis of lower urinary tract obstruction. 62
23977847 2013
23
[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. 62
23440659 2013
24
Postmortem high-resolution fetal magnetic resonance imaging in three cases of lower urinary tract obstruction. 62
23752166 2013
25
Urethral atresia and anhydramnios at 18 weeks of gestation can result in normal development. 62
22154830 2012
26
Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. 62
22417229 2012
27
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. 62
21601242 2011
28
Polled Intersex Syndrome with urethral atresia in a goat. 62
21646753 2011
29
Long-term renal and neurodevelopmental outcome in infants with LUTO, with and without fetal intervention. 62
21839591 2011
30
[Transurethral thulium laser urethrotomy for urethral stricture]. 62
21961248 2011
31
Early fetal cystoscopy for first-trimester severe megacystis. 62
21337440 2011
32
Fetal megacystis: differential diagnosis. 62
21632999 2011
33
Pitfalls and challenges of cloaca repair: how to reduce the need for reoperations. 62
21683231 2011
34
Cloacal malformations: lessons learned from 490 cases. 62
20307849 2010
35
Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center. 62
19967749 2010
36
Intestinal reconstruction of the lower urinary tract as a prerequisite for renal transplantation. 62
19076129 2009
37
Acute oligohydramnios: antenatal expression of VURD syndrome? 62
19816002 2009
38
Urinary system birth defects in surgically treated infants in Sarajevo region of Bosnia and Herzegovina. 62
18498261 2008
39
[Preparation of the children with lower urinary tract pathology to the kidney transplantation]. 62
18924524 2008
40
Fetal lower urinary tract obstruction. 62
17761463 2007
41
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation. 62
17385797 2007
42
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. 62
17128566 2006
43
Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more? 62
16148675 2005
44
Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. 62
16135579 2005
45
Urinary ascites without hydronephrosis in a neonate with urethral atresia. 62
16051320 2005
46
Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. 62
15816021 2005
47
Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn. 62
16338878 2005
48
[Congenital megacystis in a female fetus. Case report]. 62
16910462 2005
49
[Prune-belly syndrome prenatal diagnosis]. 62
16607793 2005
50
Spontaneous resolution of prenatal megalourethra. 62
15359404 2004

Variations for Atresia of Urethra

ClinVar genetic disease variations for Atresia of Urethra:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FOXF1 NM_001451.3(FOXF1):c.280A>T (p.Asn94Tyr) SNV Likely Pathogenic
374061 rs1057518868 GRCh37: 16:86544455-86544455
GRCh38: 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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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