Atresia of Urethra disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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

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Related Diseases for Atresia of Urethra

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

(show all 38)

#	Related Disease	Score
1	vacterl association, x-linked, with or without hydrocephalus	11.3
2	lower urinary tract obstruction, congenital	11.1
3	herrmann opitz craniosynostosis	11.1
4	vacterl association with hydrocephaly, x-linked	11.1
5	oligohydramnios	10.3
6	prune belly syndrome	10.2
7	patent urachus	10.1
8	vater/vacterl association	10.0
9	anus, imperforate	10.0
10	hydronephrosis	10.0
11	vacterl association	10.0
12	renal dysplasia	10.0
13	visceral myopathy 1	9.9
14	migraine with or without aura 1	9.9
15	neural tube defects	9.9
16	renal hypodysplasia/aplasia 1	9.9
17	fraser syndrome 1	9.9
18	megacystis-microcolon-intestinal hypoperistalsis syndrome 1	9.9
19	microcolon	9.9
20	alveolar capillary dysplasia with misalignment of pulmonary veins	9.9
21	renal hypodysplasia/aplasia 3	9.9
22	anal fistula	9.9
23	spina bifida occulta	9.9
24	meningocele	9.9
25	tethered spinal cord syndrome	9.9
26	megacolon	9.9
27	bladder neck obstruction	9.9
28	urethral stricture	9.9
29	teratoma	9.9
30	urinary tract obstruction	9.9
31	end stage renal disease	9.9
32	vesicoureteral reflux	9.9
33	cytomegalic inclusion disease	9.9
34	posterior urethral valves	9.9
35	sacrococcygeal teratoma	9.9
36	urachal cyst	9.9
37	fetal lower urinary tract obstruction	9.9
38	penile agenesis	9.9

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

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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%)

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Drugs & Therapeutics for Atresia of Urethra

Search Clinical Trials, NIH Clinical Center for Atresia of Urethra

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Genetic Tests for Atresia of Urethra

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Anatomical Context for Atresia of Urethra

Organs/tissues related to Atresia of Urethra:

MalaCards : Kidney, Colon

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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	Danzig MR...Ellison JS	36424292	2022
2	Collateral Damage From Fetal Interventions: Increasing the Complexity of Complex Patients. ⁶²	Parikh N...Granberg C	35623501	2022
3	Abdominal Evisceration: A Rare Complication of In Utero Vesicoamniotic Shunting. ⁶²	Galvez C...Gosalbez R	35623499	2022
4	Three new experimental models of anterior urethral stricture in rabbits. ⁶²	Yao HJ...Xie MK	35812200	2022
5	Z-scores of fetal bladder size for antenatal differential diagnosis between posterior urethral valves and urethral atresia. ⁶²	Fontanella F...Bilardo CM	33864313	2021
6	First Case of a Term Male Born with Aphallia and Complete Urethral Atresia. ⁶²	Vaizer RP...Morganstern BA	34087315	2021
7	Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties. ⁶²	Farrugia MK	32978001	2020
8	Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities. ⁶²	Gursoy Erzincan S...Varol FG	31955475	2020
9	A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. ⁶²	Frese S...Hilger AC	29664229	2019
10	Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. ⁶²	Halleran DR...Levitt MA	30297116	2019
11	Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy. ⁶²	Fontanella F...Bilardo CM	29772579	2019
12	Long-term renal outcome in infants with congenital lower urinary tract obstruction. ⁶²	Berte N...Lemelle JL	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	Moscardi PRM...Alam A	30093259	2018
14	Fetal megacystis: A systematic review. ⁶²	Taghavi K...Stringer MD	27889224	2017
15	Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. ⁶²	Sananes N...Ruano R	26739350	2016
16	VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ⁶²	Puvabanditsin S...Mehta R	26881326	2016
17	End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? ⁶²	Bischoff A...Pena A	26143408	2015
18	Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. ⁶²	Ruano R...Zugaib M	24375864	2014
19	Ultrasound diagnosis of fetal renal abnormalities. ⁶²	Dias T...Kumarasiri S	24524801	2014
20	[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options]. ⁶²	Bildau J...Axt-Fliedner R	24595911	2014
21	VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ⁶²	Sandal G...Ormeci AR	25059024	2014
22	Microtomographic analysis of lower urinary tract obstruction. ⁶²	Siebert JR...Cox TC	23977847	2013
23	[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. ⁶²	Hellmeyer L...Hackeloer BJ	23440659	2013
24	Postmortem high-resolution fetal magnetic resonance imaging in three cases of lower urinary tract obstruction. ⁶²	Lefere M...Claus F	23752166	2013
25	Urethral atresia and anhydramnios at 18 weeks of gestation can result in normal development. ⁶²	Stalberg K...Gonzalez R	22154830	2012
26	Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. ⁶²	Demirel G...Dilmen U	22417229	2012
27	Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. ⁶²	Bagrodia A...Baker LA	21601242	2011
28	Polled Intersex Syndrome with urethral atresia in a goat. ⁶²	Yokota S...Hikasa Y	21646753	2011
29	Long-term renal and neurodevelopmental outcome in infants with LUTO, with and without fetal intervention. ⁶²	Morris RK...Kilby MD	21839591	2011
30	[Transurethral thulium laser urethrotomy for urethral stricture]. ⁶²	Liu CL...Wang P	21961248	2011
31	Early fetal cystoscopy for first-trimester severe megacystis. ⁶²	Ruano R...Zugaib M	21337440	2011
32	Fetal megacystis: differential diagnosis. ⁶²	Osborne NG...Ahluwalia B	21632999	2011
33	Pitfalls and challenges of cloaca repair: how to reduce the need for reoperations. ⁶²	Levitt MA...Pena A	21683231	2011
34	Cloacal malformations: lessons learned from 490 cases. ⁶²	Levitt MA...Pena A	20307849	2010
35	Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center. ⁶²	Ruano R...Zugaib M	19967749	2010
36	Intestinal reconstruction of the lower urinary tract as a prerequisite for renal transplantation. ⁶²	Djakovic N...Hohenfellner M	19076129	2009
37	Acute oligohydramnios: antenatal expression of VURD syndrome? ⁶²	Camanni D...De Gennaro M	19816002	2009
38	Urinary system birth defects in surgically treated infants in Sarajevo region of Bosnia and Herzegovina. ⁶²	Alicelebic S...Mornjakovic Z	18498261	2008
39	[Preparation of the children with lower urinary tract pathology to the kidney transplantation]. ⁶²	Gastol P	18924524	2008
40	Fetal lower urinary tract obstruction. ⁶²	Lissauer D...Kilby MD	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	Thauvin-Robinet C...Mugneret F	17385797	2007
42	Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. ⁶²	Abaci A...Buyukgebiz A	17128566	2006
43	Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more? ⁶²	Zaccara A...DE Gennaro M	16148675	2005
44	Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. ⁶²	Biard JM...Adzick NS	16135579	2005
45	Urinary ascites without hydronephrosis in a neonate with urethral atresia. ⁶²	Stein RJ...Wu HY	16051320	2005
46	Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. ⁶²	Robyr R...Ville Y	15816021	2005
47	Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn. ⁶²	Drut R	16338878	2005
48	[Congenital megacystis in a female fetus. Case report]. ⁶²	Beretta F...D'Alessio A	16910462	2005
49	[Prune-belly syndrome prenatal diagnosis]. ⁶²	Onofriescu M...Scripcaru D	16607793	2005
50	Spontaneous resolution of prenatal megalourethra. ⁶²	Nijagal A...Albanese CT	15359404	2004

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Genes for Atresia of Urethra

Genes related to Atresia of Urethra (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	FOXF1	Forkhead Box F1	Protein Coding	25	Likely pathogenic ⁵

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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

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Expression for Atresia of Urethra

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

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Pathways for Atresia of Urethra

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GO Terms for Atresia of Urethra

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MCID: ATR053 MIFTS: 25	Atresia of Urethra Categories: Fetal diseases, Nephrological diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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