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

MCID: ATR053 MIFTS: 26	Atresia of Urethra Categories: Fetal diseases, Nephrological diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Expand all tables

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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 ⁶

Characteristics:

Orphanet epidemiological data:

⁵⁸

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

Classifications:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Nephrological diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the urinary system

Other congenital malformations of urinary system

Other atresia and stenosis of urethra and bladder neck

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

SNOMED-CT via HPO ⁶⁸ 197811007 197927001 204949001 more

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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. An important gene associated with Atresia of Urethra is FOXF1 (Forkhead Box F1). The drugs Fentanyl and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include 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 21)

#	Related Disease	Score
1	vacterl association, x-linked, with or without hydrocephalus	11.2
2	lower urinary tract obstruction, congenital	11.1
3	oligohydramnios	10.2
4	prune belly syndrome	10.2
5	vater/vacterl association	10.0
6	hydronephrosis	10.0
7	vacterl association	10.0
8	patent urachus	10.0
9	renal dysplasia	10.0
10	migraine with or without aura 1	9.9
11	neural tube defects	9.9
12	renal hypodysplasia/aplasia 1	9.9
13	vesicoureteral reflux 1	9.9
14	fraser syndrome 1	9.9
15	anal fistula	9.9
16	spina bifida occulta	9.9
17	respiratory failure	9.9
18	megacolon	9.9
19	teratoma	9.9
20	cytomegalic inclusion disease	9.9
21	sacrococcygeal teratoma	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 ³¹ (show all 14)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	renal insufficiency ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000083
2	vesicoureteral reflux ⁵⁸ ³¹	hallmark (90%)	Very frequent (99-80%)	HP:0000076
3	hydronephrosis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000126
4	recurrent urinary tract infections ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000010
5	hydroureter ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000072
6	oligohydramnios ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0001562
7	abdominal distention ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0003270
8	megacystis ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0000021
9	bladder fistula ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0004321
10	patent urachus ⁵⁸ ³¹	frequent (33%)	Frequent (79-30%)	HP:0010479
11	ascites ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0001541
12	renal dysplasia ⁵⁸ ³¹	occasional (7.5%)	Occasional (29-5%)	HP:0000110
13	pulmonary insufficiency ⁵⁸ ³¹	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

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

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Fentanyl

Approved, Illicit, Investigational, Vet_approved

Phase 2

437-38-7

3345

Synonyms:

1-Phenethyl-4-(N-phenylpropionamido)piperidine

1-phenethyl-4-N-propionylanilinopiperidine

1-Phenethyl-4-N-propionylanilinopiperidine

437-38-7

5-22-08-00049 (Beilstein Handbook Reference)

80832-90-2

990-73-8 (citrate)

AC1L1FQ2

Actiq

BIDD:GT0555

BRN 0494484

Cephalon brand OF fentanyl buccal oravescent

CHEBI:119915

CHEMBL596

CID3345

D00320

DB00813

Duragesic

Duragesic (TN)

Duragesic-100

Duragesic-12

Duragesic-25

Duragesic-50

Duragesic-75

Durogesic

EINECS 207-113-6

Fentanest

Fentanil

Fentanil [DCIT]

Fentanila

Fentanila [INN-Spanish]

Fentanilo

fentanyl

Fentanyl

Fentanyl (JAN/USAN/INN)

Fentanyl [INN:BAN]

Fentanyl CII

Fentanyl citrate

Fentanyl-100

Fentanyl-12

Fentanyl-25

Fentanyl-50

Fentanyl-75

Fentanylum

Fentanylum [INN-Latin]

Fentora

HSDB 3329

IONSYS

Janssen pharmaceutica brand OF fentanyl

JNS020QD

L001275

LS-124439

Matrifen

MolPort-003-847-369

N-(1-phenethyl-4-piperidinyl)-N-phenylpropionamide

N-(1-Phenethyl-4-piperidinyl)-N-phenylpropionamide

N-(1-phenethyl-4-piperidyl)propionanilide

N-(1-Phenethyl-4-piperidyl)propionanilide

N-(1-phenethylpiperidin-4-yl)-N-phenylpropanamide

N-(1-phenethylpiperidin-4-yl)-N-phenylpropionamide

N-(1-Phenethylpiperidin-4-yl)-N-phenylpropionamide

N-(1-Phenethyl-piperidin-4-yl)-N-phenyl-propionamide

Nasalfent

NCGC00168252-01

N-phenethyl-4-(N-propionylanilino)piperidine

N-Phenethyl-4-(N-propionylanilino)piperidine

N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide

N-Phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)propanamide

N-phenyl-N-[1-(2-phenylethyl)piperidin-4-yl]propanamide

Oprea1_152073

Oprea1_207148

PDSP1_000860

PDSP2_000846

Pentanyl

Phentanyl

Propanamide, N-phenyl-N-(1-(2-phenylethyl)-4-piperidinyl)- (9CI)

R 4263

Rapinyl

Sentonil

Sublimase

Sublimaze

Subsys

Transmucosal oral fentanyl citrate

UNII-UF599785JZ

Anesthetics

Interventional clinical trials:

#	Name	Status	NCT ID	Phase
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

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Genetic Tests for Atresia of Urethra

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Anatomical Context for Atresia of Urethra

MalaCards organs/tissues related to Atresia of Urethra:

⁴⁰

Colon

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Publications for Atresia of Urethra

Articles related to Atresia of Urethra:

(show top 50) (show all 99)

#	Title	Authors	PMID	Year
1	Fetal bladder outflow obstruction: Interventions, outcomes and management uncertainties. ⁶¹	Farrugia MK	32978001	2020
2	Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities. ⁶¹	Gursoy Erzincan S...Varol FG	31955475	2020
3	A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. ⁶¹	Frese S...Hilger AC	29664229	2019
4	Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. ⁶¹	Halleran DR...Levitt MA	30297116	2019
5	Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy. ⁶¹	Fontanella F...Bilardo CM	29772579	2019
6	Long-term renal outcome in infants with congenital lower urinary tract obstruction. ⁶¹	Berte N...Lemelle JL	29980359	2018
7	Prenatal renal parenchymal area as a predictor of early end-stage renal disease in children with vesicoamniotic shunting for lower urinary tract obstruction. ⁶¹	Moscardi PRM...Alam A	30093259	2018
8	Fetal megacystis: A systematic review. ⁶¹	Taghavi K...Stringer MD	27889224	2017
9	Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. ⁶¹	Sananes N...Ruano R	26739350	2016
10	VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ⁶¹	Puvabanditsin S...Mehta R	26881326	2016
11	End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? ⁶¹	Bischoff A...Pena A	26143408	2015
12	Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. ⁶¹	Ruano R...Zugaib M	24375864	2014
13	Ultrasound diagnosis of fetal renal abnormalities. ⁶¹	Dias T...Kumarasiri S	24524801	2014
14	[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options]. ⁶¹	Bildau J...Axt-Fliedner R	24595911	2014
15	VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ⁶¹	Sandal G...Ormeci AR	25059024	2014
16	Microtomographic analysis of lower urinary tract obstruction. ⁶¹	Siebert JR...Cox TC	23977847	2013
17	[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. ⁶¹	Hellmeyer L...Hackeloer BJ	23440659	2013
18	Postmortem high-resolution fetal magnetic resonance imaging in three cases of lower urinary tract obstruction. ⁶¹	Lefere M...Claus F	23752166	2013
19	Urethral atresia and anhydramnios at 18 weeks of gestation can result in normal development. ⁶¹	Stalberg K...Gonzalez R	22154830	2012
20	Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. ⁶¹	Demirel G...Dilmen U	22417229	2012
21	Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. ⁶¹	Bagrodia A...Baker LA	21601242	2011
22	Polled Intersex Syndrome with urethral atresia in a goat. ⁶¹	Yokota S...Hikasa Y	21646753	2011
23	Long-term renal and neurodevelopmental outcome in infants with LUTO, with and without fetal intervention. ⁶¹	Morris RK...Kilby MD	21839591	2011
24	[Transurethral thulium laser urethrotomy for urethral stricture]. ⁶¹	Liu CL...Wang P	21961248	2011
25	Early fetal cystoscopy for first-trimester severe megacystis. ⁶¹	Ruano R...Zugaib M	21337440	2011
26	Fetal megacystis: differential diagnosis. ⁶¹	Osborne NG...Ahluwalia B	21632999	2011
27	Pitfalls and challenges of cloaca repair: how to reduce the need for reoperations. ⁶¹	Levitt MA...Pena A	21683231	2011
28	Cloacal malformations: lessons learned from 490 cases. ⁶¹	Levitt MA...Pena A	20307849	2010
29	Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center. ⁶¹	Ruano R...Zugaib M	19967749	2010
30	Intestinal reconstruction of the lower urinary tract as a prerequisite for renal transplantation. ⁶¹	Djakovic N...Hohenfellner M	19076129	2009
31	Acute oligohydramnios: antenatal expression of VURD syndrome? ⁶¹	Camanni D...De Gennaro M	19816002	2009
32	Urinary system birth defects in surgically treated infants in Sarajevo region of Bosnia and Herzegovina. ⁶¹	Alicelebic S...Mornjakovic Z	18498261	2008
33	[Preparation of the children with lower urinary tract pathology to the kidney transplantation]. ⁶¹	Gastol P	18924524	2008
34	Fetal lower urinary tract obstruction. ⁶¹	Lissauer D...Kilby MD	17761463	2007
35	Syndromic encephalocele in a fetal case with a 1p35-pter deletion and a 14q32-qter duplication inherited from a maternal balanced translocation. ⁶¹	Thauvin-Robinet C...Mugneret F	17385797	2007
36	Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. ⁶¹	Abaci A...Buyukgebiz A	17128566	2006
37	Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more? ⁶¹	Zaccara A...DE Gennaro M	16148675	2005
38	Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. ⁶¹	Biard JM...Adzick NS	16135579	2005
39	Urinary ascites without hydronephrosis in a neonate with urethral atresia. ⁶¹	Stein RJ...Wu HY	16051320	2005
40	Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn. ⁶¹	Drut R	16338878	2005
41	Correlation between ultrasound and anatomical findings in fetuses with lower urinary tract obstruction in the first half of pregnancy. ⁶¹	Robyr R...Ville Y	15816021	2005
42	[Congenital megacystis in a female fetus. Case report]. ⁶¹	Beretta F...D'Alessio A	16910462	2005
43	[Prune-belly syndrome prenatal diagnosis]. ⁶¹	Onofriescu M...Scripcaru D	16607793	2005
44	Spontaneous resolution of prenatal megalourethra. ⁶¹	Nijagal A...Albanese CT	15359404	2004
45	Fetal cystoscopy in the management of fetal obstructive uropathy: experience in a single European centre. ⁶¹	Welsh A...Fisk NM	14691987	2003
46	Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy? ⁶¹	Gupta DK...Srinivas M	14743324	2003
47	Continent catheterizable urinary conduit constructed from defunctionalized colon. ⁶¹	Stuart A...Radhakrishnan J	14523877	2003
48	Ultrasonographic prediction of clinical pulmonary hypoplasia: measurement of the chest/trunk-length ratio in fetuses. ⁶¹	Ishikawa S...Okada A	12687395	2003
49	Reoperative surgery for anorectal anomalies. ⁶¹	Pena A...Levitt M	12728398	2003
50	Early second trimester intervention in a surviving infant with postnatally diagnosed urethral atresia. ⁶¹	Herndon CD...Casale AJ	12352452	2002

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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 ⁶

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Variations for Atresia of Urethra

ClinVar genetic disease variations for Atresia of Urethra:

⁶

#	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

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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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Sources for Atresia of Urethra

¹ BioSystems

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⁵⁴ Novoseek

⁵⁵ Novus Biologicals

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⁵⁷ OMIM® (Updated 05-Mar-2021)

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