MCID: ATR053
MIFTS: 16

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:

Orphanet 59 ORPHA105
UMLS via Orphanet 74 C0345345 C1610065
ICD10 via Orphanet 34 Q64.3

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 prune belly syndrome.

Related Diseases for Atresia of Urethra

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 vacterl association, x-linked, with or without hydrocephalus 11.3
2 prune belly syndrome 10.0
3 vater/vacterl association 10.0
4 vacterl association 10.0
5 renal hypodysplasia/aplasia 1 9.9
6 fraser syndrome 1 9.9
7 renal hypodysplasia/aplasia 3 9.9
8 sacrococcygeal teratoma 9.9
9 hydronephrosis 9.9
10 megacolon 9.9
11 oligohydramnios 9.9
12 teratoma 9.9
13 alveolar capillary dysplasia 9.9
14 cytomegalic inclusion disease 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

Search Clinical Trials , NIH Clinical Center for Atresia of Urethra

Genetic Tests for Atresia of Urethra

Anatomical Context for Atresia of Urethra

Publications for Atresia of Urethra

Articles related to Atresia of Urethra:

(show all 21)
# Title Authors Year
1
Acquired Urethrovaginal Fistula and Urethral Atresia in a Patient with a Sacrococcygeal Teratoma. ( 30297116 )
2018
2
Unilateral renal agenesis and urethral atresia associated with ergotamine intake during pregnancy. ( 22417229 )
2012
3
Urethral atresia and anhydramnios at 18 weeks of gestation can result in normal development. ( 22154830 )
2012
4
Staged male urethroplasty transferring megalourethra tissue as free graft dorsal inlay to proximal urethral atresia in VACTERL association. ( 21601242 )
2011
5
Polled Intersex Syndrome with urethral atresia in a goat. ( 21646753 )
2011
6
Urinary ascites without hydronephrosis in a neonate with urethral atresia. ( 16051320 )
2005
7
First-trimester sonographic diagnosis of distal urethral atresia with megalourethra in VACTERL association. ( 12001200 )
2002
8
Early second trimester intervention in a surviving infant with postnatally diagnosed urethral atresia. ( 12352452 )
2002
9
Urethral atresia: long-term outcome in 6 children who survived the neonatal period. ( 11371953 )
2001
10
Urethral atresia in a neonate with alveolar capillary dysplasia and pulmonary venous misalignment. ( 10792102 )
2000
11
Fraser syndrome associated with anterior urethral atresia. ( 10051174 )
1999
12
Urethral atresia with uroperitoneum in a newborn bovine freemartin. ( 8140717 )
1994
13
Urethral atresia and the prune belly syndrome. Report of 6 cases. ( 8149156 )
1993
14
Oligohydramnios and megacolon in a fetus with vesicorectal fistula and anal-urethral atresia: a case report. ( 1442962 )
1992
15
A case report: vesico-rectal fistula with ano-urethral atresia. ( 1492804 )
1992
16
Long-term survival in an infant with urethral atresia. ( 2299725 )
1990
17
Continent urinary diversion in a patient with prune belly syndrome and urethral atresia. ( 2930382 )
1989
18
Massive fetal ascites, urethral atresia, and cytomegalic inclusion disease. ( 4365977 )
1974
19
Intra-uterine atrophy and gangrene of the lower extremity of the foetus caused by megacystis due to urethral atresia. ( 5568349 )
1971
20
A pathological study of ureterovesical junctions of two stillborn infants with complete urethral atresia. ( 13278988 )
1955
21
The origin of amniotic fluid and the bearing on this problem of foetal urethral atresia. ( 15404909 )
1949

Variations for Atresia of Urethra

ClinVar genetic disease variations for Atresia of Urethra:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh37 Chromosome 16, 86544455: 86544455
2 FOXF1 NM_001451.2(FOXF1): c.280A> T (p.Asn94Tyr) single nucleotide variant Likely pathogenic rs1057518868 GRCh38 Chromosome 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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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