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

MCID: ATR053 MIFTS: 20	Atresia of Urethra Categories: Fetal diseases, Nephrological diseases, Rare diseases
Variations Tissues Related diseases Publications 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

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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. The drugs Fentanyl and Anesthetics have been mentioned in the context of this disorder. Affiliated tissues include kidney and colon.

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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 23)

#	Related Disease	Score
1	vacterl association, x-linked, with or without hydrocephalus	11.5
2	lower urinary tract obstruction, congenital	11.3
3	oligohydramnios	10.3
4	prune belly syndrome	10.2
5	hydronephrosis	10.1
6	vacterl association	10.1
7	patent urachus	10.1
8	renal dysplasia	10.1
9	migraine with or without aura 1	9.9
10	neural tube defects	9.9
11	renal hypodysplasia/aplasia 1	9.9
12	vesicoureteral reflux 1	9.9
13	fraser syndrome 1	9.9
14	pulmonary hypertension	9.9
15	anal fistula	9.9
16	spina bifida occulta	9.9
17	respiratory failure	9.9
18	megacolon	9.9
19	urethral stricture	9.9
20	teratoma	9.9
21	end stage renal disease	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:

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Symptoms & Phenotypes for Atresia of Urethra

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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

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

Kidney, Colon

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Publications for Atresia of Urethra

Articles related to Atresia of Urethra:

(show top 50) (show all 98)

#	Title	Authors	PMID	Year
1	Fetal cloacal dysgenesis sequence presented with first trimester megacystis and associated umbilical cord abnormalities. ⁶¹	Gursoy Erzincan S...Varol FG	31955475	2020
2	A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review. ⁶¹	Frese S...Hilger AC	29664229	2019
3	Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. ⁶¹	Halleran DR...Levitt MA	30297116	2019
4	Antenatal Workup of Early Megacystis and Selection of Candidates for Fetal Therapy. ⁶¹	Fontanella F...Bilardo CM	29772579	2019
5	Long-term renal outcome in infants with congenital lower urinary tract obstruction. ⁶¹	Berte N...Lemelle JL	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	Moscardi PRM...Alam A	30093259	2018
7	Fetal megacystis: A systematic review. ⁶¹	Taghavi K...Stringer MD	27889224	2017
8	Two-year outcomes after diagnostic and therapeutic fetal cystoscopy for lower urinary tract obstruction. ⁶¹	Sananes N...Ruano R	26739350	2016
9	VATER/VACTERL Association and Caudal Regression with Xq25-q27.3 Microdeletion: A Case Report. ⁶¹	Puvabanditsin S...Mehta R	26881326	2016
10	End stage renal disease and kidney transplant in patients with anorectal malformation: is there an alternative route? ⁶¹	Bischoff A...Pena A	26143408	2015
11	Cystoscopic placement of transurethral stent in a fetus with urethral stenosis. ⁶¹	Ruano R...Zugaib M	24375864	2014
12	Ultrasound diagnosis of fetal renal abnormalities. ⁶¹	Dias T...Kumarasiri S	24524801	2014
13	[Lower urinary tract obstruction (LUTO)--clinical picture, prenatal diagnostics and therapeutic options]. ⁶¹	Bildau J...Axt-Fliedner R	24595911	2014
14	VACTERL association with a rare vertebral anomaly (butterfly vertebra) in a case of monochorionic twin. ⁶¹	Sandal G...Ormeci AR	25059024	2014
15	Microtomographic analysis of lower urinary tract obstruction. ⁶¹	Siebert JR...Cox TC	23977847	2013
16	[Megacystis-microcolon intestinal hypoperistalsis syndrome (MMIHS) as a rare differential diagnosis of foetal megacystis on ultrasonography]. ⁶¹	Hellmeyer L...Hackeloer BJ	23440659	2013
17	Postmortem high-resolution fetal magnetic resonance imaging in three cases of lower urinary tract obstruction. ⁶¹	Lefere M...Claus F	23752166	2013
18	Urethral atresia and anhydramnios at 18 weeks of gestation can result in normal development. ⁶¹	Stalberg K...Gonzalez R	22154830	2012
19	Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. ⁶¹	Demirel G...Dilmen U	22417229	2012
20	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
21	Polled Intersex Syndrome with urethral atresia in a goat. ⁶¹	Yokota S...Hikasa Y	21646753	2011
22	Long-term renal and neurodevelopmental outcome in infants with LUTO, with and without fetal intervention. ⁶¹	Morris RK...Kilby MD	21839591	2011
23	[Transurethral thulium laser urethrotomy for urethral stricture]. ⁶¹	Liu CL...Wang P	21961248	2011
24	Early fetal cystoscopy for first-trimester severe megacystis. ⁶¹	Ruano R...Zugaib M	21337440	2011
25	Pitfalls and challenges of cloaca repair: how to reduce the need for reoperations. ⁶¹	Levitt MA...Pena A	21683231	2011
26	Fetal megacystis: differential diagnosis. ⁶¹	Osborne NG...Ahluwalia B	21632999	2011
27	Cloacal malformations: lessons learned from 490 cases. ⁶¹	Levitt MA...Pena A	20307849	2010
28	Fetal cystoscopy for severe lower urinary tract obstruction--initial experience of a single center. ⁶¹	Ruano R...Zugaib M	19967749	2010
29	Intestinal reconstruction of the lower urinary tract as a prerequisite for renal transplantation. ⁶¹	Djakovic N...Hohenfellner M	19076129	2009
30	Acute oligohydramnios: antenatal expression of VURD syndrome? ⁶¹	Camanni D...De Gennaro M	19816002	2009
31	Urinary system birth defects in surgically treated infants in Sarajevo region of Bosnia and Herzegovina. ⁶¹	Alicelebic S...Mornjakovic Z	18498261	2008
32	[Preparation of the children with lower urinary tract pathology to the kidney transplantation]. ⁶¹	Gastol P	18924524	2008
33	Fetal lower urinary tract obstruction. ⁶¹	Lissauer D...Kilby MD	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	Thauvin-Robinet C...Mugneret F	17385797	2007
35	Complex urogenital malformation associated with female pseudohermaphroditism: caudal dysgenesis syndrome. ⁶¹	Abaci A...Buyukgebiz A	17128566	2006
36	Amniotic fluid index and fetal bladder outlet obstruction. Do we really need more? ⁶¹	Zaccara A...DE Gennaro M	16148675	2005
37	Long-term outcomes in children treated by prenatal vesicoamniotic shunting for lower urinary tract obstruction. ⁶¹	Biard JM...Adzick NS	16135579	2005
38	Urinary ascites without hydronephrosis in a neonate with urethral atresia. ⁶¹	Stein RJ...Wu HY	16051320	2005
39	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
40	[Congenital megacystis in a female fetus. Case report]. ⁶¹	Beretta F...D'Alessio A	16910462	2005
41	Squamous cell peritonitis associated with hydrometrocolpos in a multimalformed newborn. ⁶¹	Drut R	16338878	2005
42	[Prune-belly syndrome prenatal diagnosis]. ⁶¹	Onofriescu M...Scripcaru D	16607793	2005
43	Spontaneous resolution of prenatal megalourethra. ⁶¹	Nijagal A...Albanese CT	15359404	2004
44	Fetal cystoscopy in the management of fetal obstructive uropathy: experience in a single European centre. ⁶¹	Welsh A...Fisk NM	14691987	2003
45	Exstrophy variants: should they be considered malformation complexes separate from classic exstrophy? ⁶¹	Gupta DK...Srinivas M	14743324	2003
46	Continent catheterizable urinary conduit constructed from defunctionalized colon. ⁶¹	Stuart A...Radhakrishnan J	14523877	2003
47	Ultrasonographic prediction of clinical pulmonary hypoplasia: measurement of the chest/trunk-length ratio in fetuses. ⁶¹	Ishikawa S...Okada A	12687395	2003
48	Reoperative surgery for anorectal anomalies. ⁶¹	Pena A...Levitt M	12728398	2003
49	Early second trimester intervention in a surviving infant with postnatally diagnosed urethral atresia. ⁶¹	Herndon CD...Casale AJ	12352452	2002
50	First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. ⁶¹	Krapp M...Gembruch U	12001200	2002

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Genes for Atresia of Urethra

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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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