MCID: EPS026
MIFTS: 40

Epispadias

Categories: Fetal diseases, Nephrological diseases, Rare diseases

Aliases & Classifications for Epispadias

MalaCards integrated aliases for Epispadias:

Name: Epispadias 59

Characteristics:

Orphanet epidemiological data:

59
epispadias
Inheritance: Multigenic/multifactorial; Age of death: normal life expectancy;

Classifications:



External Ids:

Orphanet 59 ORPHA93928
UMLS via Orphanet 74 C0563449 C0014588
MESH via Orphanet 45 D004842
ICD10 via Orphanet 34 Q64.0
ICD10 33 Q64.0
SNOMED-CT via HPO 69 165232002 406477003 197811007

Summaries for Epispadias

MalaCards based summary : Epispadias is related to exstrophy of bladder and bladder exstrophy-epispadias-cloacal exstrophy complex. An important gene associated with Epispadias is CALCA (Calcitonin Related Polypeptide Alpha), and among its related pathways/superpathways are Endothelin Pathways and a6b1 and a6b4 Integrin signaling. Affiliated tissues include skin, bone and prostate, and related phenotypes are vesicoureteral reflux and abnormality of pelvic girdle bone morphology

Wikipedia : 76 An epispadias is a rare type of malformation of the penis in which the urethra ends in an opening on the... more...

Related Diseases for Epispadias

Graphical network of the top 20 diseases related to Epispadias:



Diseases related to Epispadias

Symptoms & Phenotypes for Epispadias

Human phenotypes related to Epispadias:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 vesicoureteral reflux 59 32 frequent (33%) Frequent (79-30%) HP:0000076
2 abnormality of pelvic girdle bone morphology 59 32 frequent (33%) Frequent (79-30%) HP:0002644
3 epispadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000039
4 urinary incontinence 59 32 frequent (33%) Frequent (79-30%) HP:0000020
5 bifid clitoris 59 32 occasional (7.5%) Occasional (29-5%) HP:0030911
6 anteriorly displaced urethral meatus 59 32 hallmark (90%) Very frequent (99-80%) HP:0008648

MGI Mouse Phenotypes related to Epispadias:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.02 EGF ERBB2 MNX1 NPY TP63

Drugs & Therapeutics for Epispadias

Search Clinical Trials , NIH Clinical Center for Epispadias

Genetic Tests for Epispadias

Anatomical Context for Epispadias

MalaCards organs/tissues related to Epispadias:

41
Skin, Bone, Prostate, Testes, Breast, Smooth Muscle, Thyroid

Publications for Epispadias

Articles related to Epispadias:

(show top 50) (show all 389)
# Title Authors Year
1
Male Sexuality, Fertility, and Urinary Continence in Bladder Exstrophy-Epispadias Complex. ( 29502980 )
2018
2
Autophagy, Apoptosis, and Cell Proliferation in Exstrophy-Epispadias Complex. ( 28986224 )
2018
3
Surgical and endoscopic treatment of bladder exstrophy-epispadias complex in a female dog. ( 29504860 )
2018
4
Female epispadias: Single-stage approach - A technique to achieve continence. ( 29657022 )
2018
5
Anatomic findings associated with epispadias in boys: Implications for surgical management and urinary continence. ( 29150195 )
2018
6
A Model for Sustained Collaboration to Address the Unmet Global Burden of Bladder Exstrophy-Epispadias Complex and Penopubic Epispadias: The International Bladder Exstrophy Consortium. ( 29516095 )
2018
7
The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex. ( 29704585 )
2018
8
The Cologne pouch procedure for continent anal urinary diversion in children with bladder exstrophy-epispadias complex. ( 30031742 )
2018
9
Single-stage Abdominoplasty Using Groin Flaps Without Osteotomies: Management of Exstrophy-epispadias Complex. ( 30031829 )
2018
10
Association Between Exstrophy-epispadias Complex And Congenital Anomalies: A German Multicenter Study. ( 30076940 )
2018
11
Is there a shortening of the urethral plate in complete penile disassembly used in epispadias repair, and what is its impact on the final outcomes? ( 30154046 )
2018
12
Surgical Management of Complete Procidentia in a Female Patient with Bladder Exstrophy-epispadias Complex: Case Report and Literature Review. ( 30254955 )
2018
13
Re: Anatomic Findings Associated with Epispadias in Boys: Implications for Surgical Management and Urinary Continence. ( 30360324 )
2018
14
Re: Long-Term Follow-up after Traditional versus Modified Perineal Approach in the Management of Female Epispadias. ( 30412960 )
2018
15
Re: Yadav et al: Single-stage Female Epispadias Repair by Combined Infrasymphyseal Bladder Neck Plication and Urethrogenitoplasty: A Novel Technique (Urology 2017;100:240-245). ( 28111224 )
2017
16
Response to commentary re 'Primary female epispadias: Perineal approach or Kelly repair?' ( 29162328 )
2017
17
Commentary on "Primary female epispadias: Perineal approach or Kelly repair?" ( 28988809 )
2017
18
Primary female epispadias: Perineal approach or Kelly repair? ( 29426576 )
2017
19
The Surgical Management of Bladder Polyps in the Setting of Exstrophy Epispadias Complex. ( 28652161 )
2017
20
Patient-Reported Impact of Pelvic Organ Prolapse on Continence and Sexual Function in Women With Exstrophy-Epispadias Complex. ( 28277470 )
2017
21
Female Epispadias Presenting as Urinary Incontinence. ( 28401037 )
2017
22
Sexual Function and Quality of Life in Adult Male Individuals with Exstrophy-Epispadias Complex-a Survey of the German CURE-Network. ( 29126846 )
2017
23
Long-term follow-up after traditional versus modified perineal approach in the management of female epispadias. ( 28392008 )
2017
24
Psychosexual development management of bladder exstrophy epispadias in complex patients. ( 28254239 )
2017
25
Is Concealed Epispadias a Rare Variant? ( 28712888 )
2017
26
Complete Penile Disassembly for Repair of Epispadias Causes Erectile Tissue Alteration Through TGF-I91 Overexpression in Rabbit Model. ( 28888749 )
2017
27
Epispadias repair with tunica vaginalis flap. ( 28689649 )
2017
28
Modified Cantwell-Ransley repair for isolated continent epispadias in adult: Our experience. ( 28615813 )
2017
29
Epispadias and the associated embryopathies: genetic and developmental basis. ( 27649475 )
2017
30
Re: Clinical Pathway for Early Discharge after Complete Primary Repair of Exstrophy and Epispadias by Using a Spica Cast. ( 28505946 )
2017
31
Re: Pediatric Surgical Complications of Major Genitourinary Reconstruction in the Exstrophy-Epispadias Complex. ( 27597107 )
2016
32
Re: Successful Pregnancy in Patients with Exstrophy-Epispadias Complex: A University of Washington Experience. ( 27191110 )
2016
33
Concealed epispadias associated with a buried penis. ( 27751834 )
2016
34
Single Stage Female Epispadias Repair by Combined Infrasymphyseal Bladder Neck Plication and Urethrogenitoplasty- a Novel Technique. ( 27639793 )
2016
35
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. ( 27138190 )
2016
36
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. ( 26862292 )
2016
37
Results of Epispadias Repair Using the Modified Cantwell-Ransley Technique. ( 27450348 )
2016
38
Low Dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys with Bladder Exstrophy Epispadias Complex. ( 28039050 )
2016
39
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. ( 27013921 )
2016
40
Kelly procedure for male primary epispadias. ( 27593920 )
2016
41
The long-term outcomes after staged repair of exstrophy-epispadias complex. ( 27695206 )
2016
42
Effect of autologous muscle-derived cells in the treatment of urinary incontinence in female patients with intrinsic sphincter deficiency and epispadias: A prospective study. ( 27062371 )
2016
43
Gender Identity and Sex Role in Patients Operated on for Bladder Exstrophy-Epispadias. ( 26944302 )
2016
44
Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net. ( 27480467 )
2016
45
Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. ( 27290615 )
2016
46
Isolated Male Epispadias: Anatomic Functional Restoration Is the Primary Goal. ( 27722172 )
2016
47
Re: The Tunica Vaginalis Flap as an Adjunct to Epispadias Repair: A Preliminary Report. ( 27751490 )
2016
48
Concealed Epispadias: Report of Two Cases and Review of Literature. ( 26820118 )
2016
49
Role of routine cystoscopy and cystography in exstrophy-epispadias complex. ( 26653074 )
2016
50
Comparing the bulking effect of calcium hydroxyapatite and Deflux injection into the bladder neck for improvement of urinary incontinence in bladder exstrophy-epispadias complex. ( 27896576 )
2016

Variations for Epispadias

Expression for Epispadias

Search GEO for disease gene expression data for Epispadias.

Pathways for Epispadias

Pathways related to Epispadias according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.49 CALCA NPY
2 10.11 EGF ERBB2

GO Terms for Epispadias

Biological processes related to Epispadias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 9.58 CALCA CCN1 CKAP4
2 feeding behavior GO:0007631 9.37 CALCA NPY
3 ERBB2 signaling pathway GO:0038128 9.32 EGF ERBB2
4 regulation of cell motility GO:2000145 9.26 EGF ERBB2
5 cell proliferation GO:0008283 9.26 CCN1 ERBB2 NPY TP63
6 regulation of ERK1 and ERK2 cascade GO:0070372 9.16 CCN1 ERBB2
7 negative regulation of ERBB signaling pathway GO:1901185 8.62 EGF ERBB2

Molecular functions related to Epispadias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 growth factor binding GO:0019838 8.62 CCN1 ERBB2

Sources for Epispadias

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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