MCID: EPS026
MIFTS: 40

Epispadias

Categories: Nephrological diseases, Fetal 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 PARM1 (Prostate Androgen-Regulated Mucin-Like Protein 1), and among its related pathways/superpathways are Endothelin Pathways and a6b1 and a6b4 Integrin signaling. The drug Ropivacaine has been mentioned in the context of this disorder. 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

Drugs for Epispadias (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Transurethral Myoblast Injection for Urinary Incontinence in Children With Bladder Exstrophy Unknown status NCT02075216 Phase 1, Phase 2
2 Muscle Derived Cell Therapy for Bladder Exstrophy Epispadias Induced Incontinence Recruiting NCT01011777 Phase 1 MDC
3 Navigation of the Pelvic Floor in Bladder Exstrophy Using Pre-operative MRI Enrolling by invitation NCT01878500 Not Applicable
4 Comparison of Pudendal Nerve Block and Caudal Block for Hypospadias in Young Children Not yet recruiting NCT03145415 Not Applicable
5 Bladder Exstrophy (FIVES FertIlity Vesical Exstrophy Sexuality) Not yet recruiting NCT02759705

Search 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, Appendix, Smooth Muscle

Publications for Epispadias

Articles related to Epispadias:

(show top 50) (show all 377)
# 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
The Role of Human Acellular Dermis in Preventing Fistulas After Bladder Neck Transection in the Exstrophy-epispadias Complex. ( 29704585 )
2018
6
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
7
Response to commentary re 'Primary female epispadias: Perineal approach or Kelly repair?' ( 29162328 )
2017
8
Commentary on "Primary female epispadias: Perineal approach or Kelly repair?" ( 28988809 )
2017
9
Primary female epispadias: Perineal approach or Kelly repair? ( 29426576 )
2017
10
The Surgical Management of Bladder Polyps in the Setting of Exstrophy Epispadias Complex. ( 28652161 )
2017
11
Patient-Reported Impact of Pelvic Organ Prolapse on Continence and Sexual Function in Women With Exstrophy-Epispadias Complex. ( 28277470 )
2017
12
Female Epispadias Presenting as Urinary Incontinence. ( 28401037 )
2017
13
Sexual Function and Quality of Life in Adult Male Individuals with Exstrophy-Epispadias Complex-a Survey of the German CURE-Network. ( 29126846 )
2017
14
Long-term follow-up after traditional versus modified perineal approach in the management of female epispadias. ( 28392008 )
2017
15
Psychosexual development management of bladder exstrophy epispadias in complex patients. ( 28254239 )
2017
16
Is Concealed Epispadias a Rare Variant? ( 28712888 )
2017
17
Complete Penile Disassembly for Repair of Epispadias Causes Erectile Tissue Alteration Through TGF-I91 Overexpression in Rabbit Model. ( 28888749 )
2017
18
Epispadias repair with tunica vaginalis flap. ( 28689649 )
2017
19
Modified Cantwell-Ransley repair for isolated continent epispadias in adult: Our experience. ( 28615813 )
2017
20
Anatomic findings associated with epispadias in boys: Implications for surgical management and urinary continence. ( 29150195 )
2017
21
Re: Clinical Pathway for Early Discharge after Complete Primary Repair of Exstrophy and Epispadias by Using a Spica Cast. ( 28505946 )
2017
22
Re: Pediatric Surgical Complications of Major Genitourinary Reconstruction in the Exstrophy-Epispadias Complex. ( 27597107 )
2016
23
Re: Successful Pregnancy in Patients with Exstrophy-Epispadias Complex: A University of Washington Experience. ( 27191110 )
2016
24
Concealed epispadias associated with a buried penis. ( 27751834 )
2016
25
Single Stage Female Epispadias Repair by Combined Infrasymphyseal Bladder Neck Plication and Urethrogenitoplasty- a Novel Technique. ( 27639793 )
2016
26
CNV analysis in 169 patients with bladder exstrophy-epispadias complex. ( 27138190 )
2016
27
Bladder exstrophy-epispadias complex and the role of methylenetetrahydrofolate reductase C677T polymorphism: A case control study. ( 26862292 )
2016
28
Results of Epispadias Repair Using the Modified Cantwell-Ransley Technique. ( 27450348 )
2016
29
Low Dose Human Chorionic Gonadotropin Stimulation Test as a Prognostic Incontinent Indicator in Boys with Bladder Exstrophy Epispadias Complex. ( 28039050 )
2016
30
Genetics of Bladder-Exstrophy-Epispadias Complex (BEEC): Systematic Elucidation of Mendelian and Multifactorial Phenotypes. ( 27013921 )
2016
31
Kelly procedure for male primary epispadias. ( 27593920 )
2016
32
The long-term outcomes after staged repair of exstrophy-epispadias complex. ( 27695206 )
2016
33
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
34
Gender Identity and Sex Role in Patients Operated on for Bladder Exstrophy-Epispadias. ( 26944302 )
2016
35
Evaluation of sexual function in females with exstrophy-epispadias-complex: A survey of the multicenter German CURE-Net. ( 27480467 )
2016
36
Quality of life in female patients with bladder exstrophy-epispadias complex: Long-term follow-up. ( 27290615 )
2016
37
Isolated Male Epispadias: Anatomic Functional Restoration Is the Primary Goal. ( 27722172 )
2016
38
Re: The Tunica Vaginalis Flap as an Adjunct to Epispadias Repair: A Preliminary Report. ( 27751490 )
2016
39
Concealed Epispadias: Report of Two Cases and Review of Literature. ( 26820118 )
2016
40
Role of routine cystoscopy and cystography in exstrophy-epispadias complex. ( 26653074 )
2016
41
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
42
Kelly procedure for exstrophy or epispadias patients: Anatomical description of the pudendal neurovasculature. ( 26947891 )
2016
43
A Case of Bifid Phallus and Bladder Neck Incompetence: Is This a Variant of Epispadias or Hypospadias? ( 26610674 )
2016
44
Epispadias and the associated embryopathies; genetic and developmental basis. ( 27649475 )
2016
45
Health-related Quality of Life and Mental Health in Adolescents and Adults Operated for Bladder Exstrophy and Epispadias. ( 25881863 )
2015
46
Skin cover in epispadias repair by dorsal transposition of a ventral island flap: a modification of the Pippi Salle technique. ( 26302714 )
2015
47
Pediatric surgical complications of major genitourinary reconstruction in the exstrophy-epispadias complex. ( 25598117 )
2015
48
Clinical pathway for early discharge after complete primary repair of exstrophy and epispadias by using a spica cast. ( 25982019 )
2015
49
Sexual Function in Patients Operated on for Bladder Exstrophy and Epispadias. ( 25644933 )
2015
50
Re: Modified Penile Disassembly Technique for Boys with Epispadias and Those Undergoing Complete Primary Repair of Exstrophy: Long-Term Outcomes. ( 26582706 )
2015

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 9.5 CALCA CKAP4 CYR61
2 feeding behavior GO:0007631 9.4 CALCA NPY
3 ERBB2 signaling pathway GO:0038128 9.37 EGF ERBB2
4 regulation of cell motility GO:2000145 9.26 EGF ERBB2
5 regulation of ERK1 and ERK2 cascade GO:0070372 9.16 CYR61 ERBB2
6 negative regulation of ERBB signaling pathway GO:1901185 8.96 EGF ERBB2
7 cell proliferation GO:0008283 8.92 CYR61 ERBB2 NPY TP63

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 CYR61 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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