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 59
Urethral Atresia 59 6

Characteristics:

Orphanet epidemiological data:

59
atresia of urethra
Inheritance: Not applicable; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

ICD10 via Orphanet 34 Q64.3
UMLS via Orphanet 73 C0345345 C1610065
Orphanet 59 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 oligohydramnios. The drugs Fentanyl and Pancuronium have been mentioned in the context of this disorder. Affiliated tissues include kidney and colon.

Related Diseases for Atresia of Urethra

Diseases related to Atresia of Urethra via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 23)
# Related Disease Score Top Affiliating Genes
1 vacterl association, x-linked, with or without hydrocephalus 11.5
2 oligohydramnios 10.3
3 prune belly syndrome 10.2
4 hydronephrosis 10.1
5 vacterl association 10.1
6 patent urachus 10.1
7 renal dysplasia 10.1
8 migraine with or without aura 1 9.9
9 neural tube defects 9.9
10 renal hypodysplasia/aplasia 1 9.9
11 vesicoureteral reflux 1 9.9
12 fraser syndrome 1 9.9
13 pulmonary hypertension 9.9
14 anal fistula 9.9
15 spina bifida occulta 9.9
16 respiratory failure 9.9
17 megacolon 9.9
18 urethral stricture 9.9
19 teratoma 9.9
20 end stage renal failure 9.9
21 alveolar capillary dysplasia 9.9
22 cytomegalic inclusion disease 9.9
23 sacrococcygeal teratoma 9.9

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):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2 437-38-7 3345
2
Pancuronium Approved Phase 2 16974-53-1, 15500-66-0 441289 27350
3 Anesthetics

Interventional clinical trials:


# 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:

41
Kidney, Colon

Publications for Atresia of Urethra

Articles related to Atresia of Urethra:

(show top 50) (show all 97)
# Title Authors PMID Year
1
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. 38
29664229 2019
2
Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. 38
30297116 2019
3
Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy. 38
29772579 2019
4
Long-term renal outcome in infants with congenital lower urinary tract obstruction. 38
29980359 2018
5
Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction. 38
30093259 2018
6
Fetal megacystis: A systematic review. 38
27889224 2017
7
Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. 38
26739350 2016
8
VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. 38
26881326 2016
9
End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? 38
26143408 2015
10
Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. 38
24375864 2014
11
Ultrasound diagnosis of fetal renal abnormalities. 38
24524801 2014
12
[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options]. 38
24595911 2014
13
VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. 38
25059024 2014
14
Microtomographic analysis of lower urinary tract obstruction. 38
23977847 2013
15
[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. 38
23440659 2013
16
Postmortem high-resolution fetal magnetic resonance imaging in three cases of lower urinary tract obstruction. 38
23752166 2013
17
Urethral atresia and anhydramnios at 18 weeks of gestation can result in normal development. 38
22154830 2012
18
Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. 38
22417229 2012
19
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. 38
21601242 2011
20
Polled Intersex Syndrome with urethral atresia in a goat. 38
21646753 2011
21
[Transurethral thulium laser urethrotomy for urethral stricture]. 38
21961248 2011
22
Long-term renal and neurodevelopmental outcome in infants with LUTO, with and without fetal intervention. 38
21839591 2011
23
Fetal megacystis: differential diagnosis. 38
21632999 2011
24
Pitfalls and challenges of cloaca repair: how to reduce the need for reoperations. 38
21683231 2011
25
Early fetal cystoscopy for first-trimester severe megacystis. 38
21337440 2011
26
Cloacal malformations: lessons learned from 490 cases. 38
20307849 2010
27
Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center. 38
19967749 2010
28
Intestinal reconstruction of the lower urinary tract as a prerequisite for renal transplantation. 38
19076129 2009
29
Acute oligohydramnios: antenatal expression of VURD syndrome? 38
19816002 2009
30
Urinary system birth defects in surgically treated infants in Sarajevo region of Bosnia and Herzegovina. 38
18498261 2008
31
[Preparation of the children with lower urinary tract pathology to the kidney transplantation]. 38
18924524 2008
32
Fetal lower urinary tract obstruction. 38
17761463 2007
33
Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation. 38
17385797 2007
34
Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. 38
17128566 2006
35
Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more? 38
16148675 2005
36
Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. 38
16135579 2005
37
Urinary ascites without hydronephrosis in a neonate with urethral atresia. 38
16051320 2005
38
Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. 38
15816021 2005
39
Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn. 38
16338878 2005
40
[Congenital megacystis in a female fetus. Case report]. 38
16910462 2005
41
[Prune-belly syndrome prenatal diagnosis]. 38
16607793 2005
42
Spontaneous resolution of prenatal megalourethra. 38
15359404 2004
43
Fetal cystoscopy in the management of fetal obstructive uropathy: experience in a single European centre. 38
14691987 2003
44
Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy? 38
14743324 2003
45
Continent catheterizable urinary conduit constructed from defunctionalized colon. 38
14523877 2003
46
Ultrasonographic prediction of clinical pulmonary hypoplasia: measurement of the chest/trunk-length ratio in fetuses. 38
12687395 2003
47
Reoperative surgery for anorectal anomalies. 38
12728398 2003
48
Early second trimester intervention in a surviving infant with postnatally diagnosed urethral atresia. 38
12352452 2002
49
First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. 38
12001200 2002
50
Outcome analysis of vesicoamniotic shunting in a comprehensive population. 38
11490292 2001

Variations for Atresia of Urethra

ClinVar genetic disease variations for Atresia of Urethra:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FOXF1 NM_001451.3(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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