Aliases & Classifications for Genitourinary Tract Anomalies

MalaCards integrated aliases for Genitourinary Tract Anomalies:

Name: Genitourinary Tract Anomalies 56

Characteristics:

OMIM:

56
Inheritance:
x-linked


HPO:

31
genitourinary tract anomalies:
Clinical modifier neonatal death
Inheritance x-linked inheritance


External Ids:

OMIM 56 305690
MedGen 41 C1844502

Summaries for Genitourinary Tract Anomalies

MalaCards based summary : Genitourinary Tract Anomalies is related to meier-gorlin syndrome 1 and meier-gorlin syndrome 2. An important gene associated with Genitourinary Tract Anomalies is CDC45 (Cell Division Cycle 45), and among its related pathways/superpathways are CDK-mediated phosphorylation and removal of Cdc6 and Cell Cycle, Mitotic. Affiliated tissues include testis and kidney, and related phenotypes are abnormality of the genitourinary system and Synthetic lethal with MLN4924 (a NAE inhibitor)

More information from OMIM: 305690

Related Diseases for Genitourinary Tract Anomalies

Graphical network of the top 20 diseases related to Genitourinary Tract Anomalies:



Diseases related to Genitourinary Tract Anomalies

Symptoms & Phenotypes for Genitourinary Tract Anomalies

Human phenotypes related to Genitourinary Tract Anomalies:

31
# Description HPO Frequency HPO Source Accession
1 abnormality of the genitourinary system 31 HP:0000119

Symptoms via clinical synopsis from OMIM:

56
Misc:
neonatal death

G U:
genitourinary tract anomalies

Clinical features from OMIM:

305690

GenomeRNAi Phenotypes related to Genitourinary Tract Anomalies according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.7 CDC45 CDC6 CDT1 GMNN MCM5 ORC1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.7 CDC45 CDC6 CDT1 GMNN MCM5 ORC1
3 Increased Nanog expression GR00371-A-1 9.65 GMNN MCM5 ORC1
4 Increased Nanog expression GR00371-A-3 9.65 GMNN MCM5 CDC6
5 Decreased viability GR00231-A 9.56 ORC1 ORC4
6 Decreased viability GR00402-S-2 9.56 ORC1 ORC4
7 Downregulation of Wnt pathway after Wnt3A stimulation GR00057-A-2 9.33 CDC45 CDC6 CDT1

Drugs & Therapeutics for Genitourinary Tract Anomalies

Search Clinical Trials , NIH Clinical Center for Genitourinary Tract Anomalies

Genetic Tests for Genitourinary Tract Anomalies

Anatomical Context for Genitourinary Tract Anomalies

MalaCards organs/tissues related to Genitourinary Tract Anomalies:

40
Testis, Kidney

Publications for Genitourinary Tract Anomalies

Articles related to Genitourinary Tract Anomalies:

(show top 50) (show all 53)
# Title Authors PMID Year
1
Use of oocytes from anonymous, matched, fertile donors for prevention of heritable genetic diseases. 56
1619634 1992
2
Tubo-Ovarian Abscesses in Nonsexually Active Adolescent Females: A Large Case Series. 61
31196784 2019
3
Challenging diagnosis of prune belly syndrome antenatally: a case report. 61
31253193 2019
4
Practice patterns in ordering a voiding cystourethrogram for pediatric patients among different specialties in a Middle Eastern tertiary care center. 61
31040602 2019
5
Anomalies of the genitourinary tract in children with 22q11.2 deletion syndrome. 61
30582277 2019
6
Anatomical associations and radiological characteristics of Scimitar syndrome on CT and MR. 61
29550261 2018
7
Utility of ureteric jet: A simple yet useful tool for the evaluation of complex urogenital anomaly. 61
29692526 2018
8
The efficacy of extracorporeal shockwave lithotripsy for symptomatic ureteral stones: Predictors of treatment failure without the assistance of computed tomography. 61
28931028 2017
9
Association of structural and numerical anomalies of chromosome 22 in a patient with syndromic intellectual disability. 61
27452446 2016
10
Exploring the genetic basis of 3MC syndrome: Findings in 12 further families. 61
26789649 2016
11
Duplicated Renal Collecting System With Ectopic Ureter in Female Bladder Exstrophy: A Case Report. 61
26724411 2016
12
How accurate is diagnosis of congenital anomalies made by family physicians? 61
25648162 2014
13
Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases. 61
25593701 2014
14
Retroperitoneal malignant peripheral nerve sheath tumor replacing an absent kidney in a child. 61
24392233 2013
15
Association between maternal prenatal vitamin use and congenital abnormalities of the genitourinary tract in a developing country. 61
21930431 2012
16
Tracheal agenesis: a rare cause of unsuccessful tracheal intubation during resuscitation. 61
21901957 2010
17
A modified approach of cystic puncture with contrast medium injection for diagnosis of obstructed hemivagina and urinary tract anomalies. 61
20708513 2010
18
A case of vaginal clear cell adenocarcinoma complicated with congenital anomalies of the genitourinary tract and metanephric remnant without prenatal diethylstilbestrol exposure. 61
20598057 2010
19
Cystic dysplasia of the rete testis: case report. 61
19482553 2009
20
A mini-review of familial ovarian germ cell tumors: an additional manifestation of the familial testicular germ cell tumor syndrome. 61
19679044 2009
21
Duodenal atresia in an infant with triple-X syndrome: a new associated malformation in 47,XXX. 61
17469201 2007
22
The role of magnetic resonance imaging in pediatric urology. 61
16770129 2006
23
[Results at skeletal maturity after double-approach hemivertebral resection]. 61
16552992 2005
24
Cystic dysplasia of the rete testis. Case report. 61
16309434 2005
25
[Congenital anomalies of the genitourinary tract]. 61
14968548 2004
26
Congenital urinary tract anomalies in pediatric renal trauma patients. 61
12352365 2002
27
Associated genitourinary tract anomalies in anorectal malformations: a thirteen year review. 61
12117016 2002
28
Fanconi Anemia 61
20301575 2002
29
[Cystic dysplasia of the testis: report of a case and review of the literature]. 61
11822066 2001
30
Prenatal treatment of congenital adrenal hyperplasia. 61
10411084 1999
31
Postoperative MRI of anorectal malformation. 61
9080759 1997
32
Urinary tract infections in cocaine-exposed infants. 61
7666269 1995
33
Lower genitourinary tract anomalies in a male with Down syndrome. 61
7567270 1995
34
Surgical implications of genitourinary tract anomalies in patients with imperforate anus. 61
8201665 1994
35
Fetal genitourinary tract anomalies: evaluation, operative correction, and follow-up. 61
2296425 1990
36
[Clinical analysis and study of hypospadias]. 61
2634461 1989
37
Common fetal urinary tract anomalies. 61
2696540 1989
38
Genitourinary tract anomalies in Thai children with urinary tract infection. 61
2732647 1989
39
[Intraspinal lipoma with tethered cord syndrome in childhood]. 61
3071028 1988
40
[Genito-urinary malformations in a regional survey in Emilia Romagna]. 61
3786187 1986
41
Prenatal diagnosis of genitourinary tract malformations. 61
3331876 1986
42
Management of a fetus affected by a genitourinary tract anomaly (excluding obstructive uropathies). 61
3455136 1986
43
Genitourinary tract anomalies: neonatal medical problems. 61
3455137 1986
44
Genitourinary tract anomalies: neonatal surgical problems. 61
3455138 1986
45
Spine duplication. 61
3983699 1985
46
Ultrasound diagnosis of fetal genitourinary tract anomalies. 61
7179604 1982
47
The association of congenital spinal anomalies with imperforate anus. 61
7067238 1982
48
Multifocal nephroblastic neoplasia. 61
210288 1978
49
Genitourinary tract anomalies in lobster claw syndrome. 61
1255902 1976
50
Genitourinary anomalies associated with Klippel-Feil syndrome. 61
235554 1975

Variations for Genitourinary Tract Anomalies

Expression for Genitourinary Tract Anomalies

Search GEO for disease gene expression data for Genitourinary Tract Anomalies.

Pathways for Genitourinary Tract Anomalies

Pathways related to Genitourinary Tract Anomalies according to GeneCards Suite gene sharing:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.88 ORC6 ORC4 ORC1 MCM5 GMNN CDT1
2
Show member pathways
13.13 ORC6 ORC4 ORC1 MCM5 GMNN CDT1
3
Show member pathways
12.45 ORC6 ORC4 ORC1 MCM5 CDC6 CDC45
4 12.27 ORC6 ORC1 GMNN CDT1 CDC6 CDC45
5
Show member pathways
12.22 ORC6 ORC4 ORC1 MCM5 CDT1 CDC6
6 12.09 ORC6 ORC4 ORC1 MCM5 CDC6 CDC45
7
Show member pathways
11.6 ORC6 ORC4 ORC1 MCM5 GMNN CDT1
8 11.58 ORC1 CDT1 CDC45
9 11.36 ORC1 CDC6
10 11.34 ORC1 GMNN CDC6
11 11.13 ORC6 ORC4 ORC1 MCM5 CDT1 CDC6

GO Terms for Genitourinary Tract Anomalies

Cellular components related to Genitourinary Tract Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.92 ORC6 ORC4 ORC1 MCM5 GMNN CDT1
2 nucleoplasm GO:0005654 9.76 ORC6 ORC4 ORC1 MCM5 GMNN CDT1
3 nuclear chromosome, telomeric region GO:0000784 9.43 ORC4 ORC1 MCM5
4 nuclear origin of replication recognition complex GO:0005664 9.13 ORC6 ORC4 ORC1
5 origin recognition complex GO:0000808 8.8 ORC6 ORC4 ORC1

Biological processes related to Genitourinary Tract Anomalies according to GeneCards Suite gene sharing:

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 9.8 MCM5 GMNN CDT1 CDC6 CDC45
2 cell division GO:0051301 9.7 MCM5 CDT1 CDC6
3 DNA replication GO:0006260 9.7 ORC6 ORC4 ORC1 MCM5 CDT1 CDC6
4 mitotic cell cycle GO:0000278 9.67 ORC1 CDT1 CDC6
5 regulation of transcription involved in G1/S transition of mitotic cell cycle GO:0000083 9.56 ORC1 CDT1 CDC6 CDC45
6 DNA duplex unwinding GO:0032508 9.54 MCM5 CDC45
7 negative regulation of DNA replication GO:0008156 9.51 GMNN CDC6
8 DNA replication checkpoint GO:0000076 9.5 CDT1 CDC6 CDC45
9 positive regulation of chromatin binding GO:0035563 9.48 GMNN CDT1
10 double-strand break repair via break-induced replication GO:0000727 9.46 MCM5 CDC45
11 mitotic DNA replication checkpoint GO:0033314 9.43 ORC1 CDC6
12 DNA replication initiation GO:0006270 9.43 ORC6 ORC4 ORC1 MCM5 CDC6 CDC45
13 DNA replication preinitiation complex assembly GO:0071163 9.37 GMNN CDT1
14 G1/S transition of mitotic cell cycle GO:0000082 9.23 ORC6 ORC4 ORC1 MCM5 GMNN CDT1

Molecular functions related to Genitourinary Tract Anomalies according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.72 ORC6 ORC4 ORC1 MCM5 CDT1
2 chromatin binding GO:0003682 9.46 ORC1 GMNN CDT1 CDC45
3 single-stranded DNA binding GO:0003697 9.37 MCM5 CDC45
4 3'-5' DNA helicase activity GO:0043138 9.26 MCM5 CDC45
5 nucleotide binding GO:0000166 9.26 ORC4 ORC1 MCM5 CDC6
6 DNA replication origin binding GO:0003688 9.1 ORC6 ORC4 ORC1 MCM5 CDC6 CDC45

Sources for Genitourinary Tract Anomalies

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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