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MCID: HYP040
MIFTS: 58

Hypospadias

Categories: Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Hypospadias

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MalaCards integrated aliases for Hypospadias:

Name: Hypospadias 12 37 29 55 44 15
Familial Hypospadias 12 59
Hypospadias Familial 76 53

Characteristics:

Orphanet epidemiological data:

59
familial hypospadias
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 33 34
Orphanet: 59  
Developmental anomalies during embryogenesis


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Disease Ontology 12 DOID:10892
ICD10 33 Q54 Q54.9
MeSH 44 D007021
NCIt 50 C40341
Orphanet 59 ORPHA440
ICD10 via Orphanet 34 Q54.0 Q54.1 Q54.2 more
KEGG 37 H02175
SNOMED-CT via HPO 69 204888000
UMLS 73 C0848558
Sources

Summaries for Hypospadias

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NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 440Disease definitionHypospadias is the displacement of the urethral meatus on the ventrum of the penis. This abnormality is associated with a varyingly bent, twisted penis and opened dorsal prepuce.EpidemiologyThis congenital malformation is not rare, with an estimated prevalence of 1/1000 births but familial forms account for only 10% of cases.Clinical descriptionHypospadias is clinically more or less severe depending on the location of the urether opening. The type of hypospadias is defined according to the origin of the spongious divergence. Hypospadias is said to be posterior when the spongious body diverges from the central root of the penis, it is middle or anterior if the divergence is located on the ventral side of the penis. Among familial forms, all types of hypospadias have the same semiological value, indeed a minor form observed in a father can result in more severe forms in his male progeny.EtiologyHypospadias is due to defective development of the spongious body of the urether, which stays divergent. This spongious body develops under the genital folds between the 8th and 12th week of embryonic development. Several causes of hypospadias have been suggested. Endocrine aetiology of foetal or maternal origin (especially in cases of medically assisted procreation) has been described. Some hypospadias have been linked to a toxic origin (pesticides).Genetic counselingFamilial forms are identified by determining the medical history of the family.Management and treatmentSurgical repair of hypospadias relies on numerous techniques, aimed at restoring the missing portion of urether. The simplest approach consists of a recently developed technique involving spongious body repair (spongioplasty). This surgery can be proposed in the first few months of life.Visit the Orphanet disease page for more resources.

MalaCards based summary : Hypospadias, also known as familial hypospadias, is related to pseudovaginal perineoscrotal hypospadias and 5-alpha reductase deficiency. An important gene associated with Hypospadias is MAMLD1 (Mastermind Like Domain Containing 1), and among its related pathways/superpathways are Metabolism of steroid hormones and Steroid hormone biosynthesis. The drugs Ropivacaine and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include skin, testis and prostate, and related phenotypes are hypospadias and endocrine/exocrine gland

Disease Ontology : 12 A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.

Wikipedia : 76 Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual... more...

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Related Diseases for Hypospadias

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Diseases in the Hypospadias family:

Hypospadias 3, Autosomal Posterior Hypospadias

Diseases related to Hypospadias via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 213)
# Related Disease Score Top Affiliating Genes
1 pseudovaginal perineoscrotal hypospadias 33.8 SRD5A2 SRD5A1 LHCGR CYP17A1 AR
2 5-alpha reductase deficiency 33.2 SRD5A2 SRD5A1
3 androgen insensitivity, partial 32.4 SRD5A1 AR
4 androgen insensitivity syndrome 32.0 SRY SRD5A2 NR5A1 MAMLD1 AR
5 leydig cell hypoplasia 31.6 LHCGR HSD17B3
6 46,xx sex reversal 1 31.6 SRY NR5A1
7 cryptorchidism, unilateral or bilateral 30.8 WT1 SRY NR5A1 AR
8 gynecomastia 30.5 SRY HSD17B3 AR
9 hermaphroditism 30.4 SRY SRD5A2 AR
10 wilms tumor 1 29.9 WT1 SRY NR5A1 AR
11 transsexualism 29.9 CYP17A1 AR
12 gonadal dysgenesis 29.8 WT1 SRY NR5A1
13 lipoid congenital adrenal hyperplasia 29.8 SRY NR5A1 CYP17A1
14 persistent mullerian duct syndrome 29.8 WT1 SRY NR5A1
15 pseudohermaphroditism 29.6 WT1 SRY SRD5A2 NR5A1 LHCGR HSD17B3
16 preaxial deficiency, postaxial polydactyly, and hypospadias 12.4
17 hypospadias 1, x-linked 12.4
18 hypospadias 2, x-linked 12.3
19 posterior hypospadias 12.3
20 hypospadias-intellectual disability, goldblatt type syndrome 12.2
21 hypospadias-mental retardation syndrome 12.2
22 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 12.1
23 radial hypoplasia, triphalangeal thumbs and hypospadias 12.1
24 hypospadias 3, autosomal 12.0
25 hypospadias 4, x-linked 12.0
26 opitz gbbb syndrome, type i 12.0
27 spina bifida hypospadias 12.0
28 schilbach-rott syndrome 12.0
29 anal atresia, hypospadias, and penoscrotal inversion 11.9
30 deafness hypospadias metacarpal and metatarsal syndrome 11.9
31 tracheophageal fistula hypospadias 11.9
32 myopathy-growth delay-intellectual disability-hypospadias syndrome 11.9
33 lower limb malformation-hypospadias syndrome 11.9
34 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 11.9
35 opitz-gbbb syndrome 11.9
36 acrofrontofacionasal dysostosis 2 11.9
37 opitz gbbb syndrome, type ii 11.9
38 elsahy-waters syndrome 11.7
39 schmitt gillenwater kelly syndrome 11.6
40 pfeiffer kapferer syndrome 11.3
41 hypogonadotropic hypogonadism 11.2
42 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.2
43 mowat-wilson syndrome 11.2
44 acrofacial dysostosis, catania type 11.0
45 leydig cell hypoplasia, type i 11.0
46 say carpenter syndrome 10.9
47 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.9
48 say syndrome 10.9
49 acrocallosal syndrome 10.9
50 ritscher-schinzel syndrome 1 10.9

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to Hypospadias
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Symptoms & Phenotypes for Hypospadias

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Human phenotypes related to Hypospadias:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 59 32 hallmark (90%) Very frequent (99-80%) HP:0000047

MGI Mouse Phenotypes related to Hypospadias:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.18 AR ATF3 FGF10 FGF8 FGFR2 HOXA13
2 growth/size/body region MP:0005378 10.18 AR ATF3 CYP17A1 FGF10 FGF8 FGFR2
3 embryo MP:0005380 10.13 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
4 digestive/alimentary MP:0005381 10 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
5 adipose tissue MP:0005375 9.95 AR ATF3 CYP17A1 FGF10 FGFR2 LHCGR
6 limbs/digits/tail MP:0005371 9.87 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
7 muscle MP:0005369 9.8 AR FGF10 FGF8 FGFR2 HOXD13 MID1
8 normal MP:0002873 9.76 AR FGF10 FGF8 FGFR2 LHCGR MID1
9 renal/urinary system MP:0005367 9.61 AR CYP17A1 FGF10 FGF8 FGFR2 HOXA13
10 reproductive system MP:0005389 9.44 AR CYP17A1 FGF10 FGF8 FGFR2 HOXA13
Sources

Drugs & Therapeutics for Hypospadias

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

(show top 50) (show all 142)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
2
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1 113775-47-6 68602 5311068
3
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
4 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
7 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1,Not Applicable
13 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
14 Hypnotics and Sedatives Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
15 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2,Phase 1
16
leucovorin Approved Phase 3,Not Applicable 58-05-9 6006 143
17
Epinephrine Approved, Vet_approved Phase 2, Phase 3,Not Applicable 51-43-4 5816
18
Racepinephrine Approved Phase 2, Phase 3,Not Applicable 329-65-7 838
19
Atracurium Approved, Experimental, Investigational Phase 2, Phase 3 64228-79-1 47319
20
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
21
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3,Phase 3 437-38-7 3345
22
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
23
Atropine Approved, Vet_approved Phase 2, Phase 3 51-55-8, 5908-99-6 174174
24
Nitrous oxide Approved, Vet_approved Phase 2, Phase 3,Not Applicable 10024-97-2 948
25
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
26
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
27
Testosterone Approved, Investigational Phase 3 58-22-0 6013
28 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
29
Polyestradiol phosphate Approved Phase 3 28014-46-2
30
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
31 Sugarcane Approved Phase 3
32
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
33
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
34 Vitamin B Complex Phase 3,Not Applicable
35 Vitamin B9 Phase 3,Not Applicable
36 Vitamins Phase 3,Not Applicable
37 Micronutrients Phase 3,Not Applicable
38 Folate Phase 3,Not Applicable
39 Hematinics Phase 3,Not Applicable
40 Trace Elements Phase 3,Not Applicable
41 Adrenergic beta-Agonists Phase 2, Phase 3,Not Applicable
42 Vasoconstrictor Agents Phase 2, Phase 3,Not Applicable
43 Anti-Asthmatic Agents Phase 2, Phase 3,Not Applicable
44 Epinephryl borate Phase 2, Phase 3,Not Applicable
45 Mydriatics Phase 2, Phase 3,Not Applicable
46 Sympathomimetics Phase 2, Phase 3,Not Applicable
47 Respiratory System Agents Phase 2, Phase 3,Not Applicable
48 Autonomic Agents Phase 2, Phase 3,Phase 1,Not Applicable
49 Bronchodilator Agents Phase 2, Phase 3,Not Applicable
50 Anti-Arrhythmia Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 64)
# Name Status NCT ID Phase Drugs
1 Pudendal Block Versus Caudal Block for Hypospadias Completed NCT02390388 Phase 4
2 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Completed NCT02848157 Phase 4 Dexmedetomidine;plain ropivacaine;Ropivacaine
3 Does Caudal Block Increase the Incidence of Urethrocutaneous Fistula Formation Following Hypospadias Repair in Infants? Recruiting NCT02861950 Phase 4 Caudal block with ropivacaine;penile nerve block with bupivacaine
4 Effect of Intravenous Paracetamol in Combination With Caudal Ropivacaine on Quality of Postoperative Recovery in Paediatric Patients Undergoing Hypospadias Repair Recruiting NCT03781505 Phase 4 Paracetamol +caudal ropivacaine
5 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
6 Effectiveness of Caudal Epidural Block on Intraoperative Blood Loss During Hypospadias Repair Completed NCT02752308 Phase 2, Phase 3 Bupivacaine;Dilute epinephrine injection;Fentanyl;dextrose plus sodium chloride.;neostigmine and atropine
7 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications Completed NCT01370798 Phase 3 promestriene;Placebo
8 Dexmedetomidine Infusion in Hypospadias Surgery Completed NCT00926705 Phase 3 Dexmedetomidine and Fentanyl;Fentanyl
9 2-octyl Cyanoacrylate for Closure of Urethrocutaneous Fistula. Completed NCT02115191 Phase 3
10 Study Comparing the Polyurethane Films and Sugarcane Biopolymer Used as Dressings Completed NCT02531828 Phase 3
11 A Study Comparing the Efficacy, Safety and Tolerability of Oral Dydrogesterone 30 mg Daily Versus Crinone 8% Intravaginal Progesterone Gel 90 mg Daily for Luteal Support in In-Vitro Fertilization (LOTUS II) Completed NCT02491437 Phase 3 Dydrogesterone 30 mg;intravaginal progesterone gel 90 mg
12 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
13 Association of Different Doses of Clonidine in Caudal Epidural Anesthesia for Hypospadias Surgery Completed NCT02769390 Phase 2 Clonidine 1 mcg/Kg;Clonidine 2 mcg/ Kg;Clonidine 3 mcg/ Kg
14 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
15 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
16 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
17 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
18 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
19 Caudal Combination of Dexamethasone and/or Dexmedetomidine to Bupivacaine in Pediatric Hypospadias Surgery Completed NCT03261921 Phase 1 Dexamethasone;Dexmedetomidine;Bupivacaine
20 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090 Not Applicable
21 Foreskin Graft Tubularized Incised Plate Urethroplasty vs Tubularized Incised Plate for Primary Hypospadias (FGTIP-TIP) Unknown status NCT02497963 Not Applicable
22 The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group Unknown status NCT01762007
23 Hemostasis During Hypospadias Surgery Unknown status NCT02268019 Not Applicable epinephrine injection
24 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
25 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
26 Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
27 Antibiotic Use in Distal Hypospadias Repair Completed NCT03275519 Not Applicable
28 Long Term Outcome of Hypospadias Repair Completed NCT02103712
29 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682
30 Antibiotic Use Following Distal and Mid-shaft Hypospadias Repair Completed NCT02593903 Not Applicable Septra
31 Ultrasound Guided Penile Block vs Pudendal Block for Hypospadias Completed NCT03496740 Not Applicable Bupivacaine (Block Drug)
32 The Effect of Anesthetics on Oxidative Stress and Apoptosis Status in Children Completed NCT02711280 Not Applicable Sevoflurane;Propofol
33 DPNB vs. Modified DPNB With Ventromedial Infiltration (DPNB According to Dalens' Technique) Completed NCT01974011 Not Applicable
34 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
35 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389 Not Applicable
36 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205 Not Applicable
37 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
38 "iRestore" Light Therapy Apparatus Completed NCT03331003 Not Applicable
39 Boston Children's Hospital Post Anesthesia Care Unit Outcomes Study Completed NCT02189642
40 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
41 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
42 Effect of Steroids on Post-Operative Complications Following Proximal Hypospadias Repair Recruiting NCT02162810 Not Applicable Prednisolone;placebo-controlled
43 Effect of Caudal and Penile Block on Hypospadias Repair Complications Recruiting NCT02851290 Not Applicable
44 Caudal vs Local Anesthesia in Hypospadias Recruiting NCT02512887 Not Applicable Caudal Block Anesthesia;Dorsal Penile Block Anesthesia
45 Genetics of Disorders of Sex Development and Hypospadias Recruiting NCT03102554 Not Applicable
46 Incidence of Urethrocutaneous Fistula With and Without Caudal Epidural Block Recruiting NCT03812731 Not Applicable Ropivacaine;Fentanyl Citrate
47 Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis Recruiting NCT03295175
48 Effect of Caudal Nalbuphine on Postoperative Analgesia in Children Recruiting NCT02618876 Not Applicable Nalbuphine plus Bupivacaine;Bupivacaine
49 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638 Not Applicable
50 Interactive Perioperative Teaching Platform (IPTP) Recruiting NCT03677453 Not Applicable

Search NIH Clinical Center for Hypospadias

Cochrane evidence based reviews: hypospadias

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Genetic Tests for Hypospadias

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Genetic tests related to Hypospadias:

# Genetic test Affiliating Genes
1 Hypospadias 29
Sources

Anatomical Context for Hypospadias

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MalaCards organs/tissues related to Hypospadias:

41
Skin, Testis, Prostate, Placenta, Spinal Cord, Bone, Heart
Sources

Publications for Hypospadias

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Articles related to Hypospadias:

(show top 50) (show all 1374)
# Title Authors Year
1
Effectiveness of caudal epidural block on interaoperative blood loss during hypospadias repair: A randomized clinical trial. ( 29858133 )
2018
2
Commentary to: 'Non-stented versus stented urethroplasty for distal hypospadias repair: A systematic review and meta-analysis'. ( 29958640 )
2018
3
Isolated hypospadias: The impact of prenatal exposure to pesticides, as determined by meconium analysis. ( 29929047 )
2018
4
What is the pathogenesis of proximal hypospadias? ( 29799398 )
2018
5
Role of uroflowmetry before and after hypospadias repair. ( 29416276 )
2018
6
A new technique for adult hypospadias repair: A combination of TIPU and Mathieu techniques. ( 29413228 )
2018
7
Reply to comments on 'The association between caudal anesthesia and increased risk of postoperative surgical complications in boys undergoing hypospadias repair'. ( 29436130 )
2018
8
Early readmission and reoperation characteristics of ambulatory hypospadias repair. ( 29929854 )
2018
9
Prophylactic Antibiotics After Stented, Distal Hypospadias Repair: Randomized Pilot Study. ( 29761139 )
2018
10
Hypospadias Is Not Rare in Dogs: Five New Cases, a Retrospective Study, and a Review of the Literature. ( 29902797 )
2018
11
Editorial Comment to Width proportion of the urethral plate to the glans can serve as an appraisal index of the urethral plate in hypospadias repair. ( 29862578 )
2018
12
Commentary: Results of Onlay Preputial Flap Urethroplasty for the Single-Stage Repair of Mid-and Proximal Hypospadias. ( 29869638 )
2018
13
Antibiotic Prophylaxis with Trimethoprim-Sulfamethoxazole versus No Treatment after Mid-to-Distal Hypospadias Repair: A Prospective, Randomized Study. ( 29780414 )
2018
14
Pedicled preputial island flap for double functions in hypospadias surgery. ( 29799409 )
2018
15
Risk factors for failed urethrocutaneous fistula repair after transverse preputial island flap urethroplasty in pediatric hypospadias. ( 29282594 )
2018
16
Re: Pudendal versus Caudal Block in Children Undergoing Hypospadias Surgery: A Randomized Controlled Trial. ( 29783572 )
2018
17
Prevalence and risk factors of testicular microlithiasis in patients with hypospadias: a retrospective study. ( 29843681 )
2018
18
The Wilms' tumour 1 gene as a factor in non-syndromic hypospadias: evidence and controversy. ( 29743143 )
2018
19
Long term follow up of proximal hypospadias repair-urethral stricture should be excluded in adults who present with epididymo-orchitis. ( 29511587 )
2018
20
Description of mutation spectrum and polymorphism of Wilms' tumor 1 (WT1) gene in hypospadias patients in the Indonesian population. ( 29958641 )
2018
21
Re: Worldwide Prevalence of Hypospadias. ( 29310187 )
2018
22
Hypospadias surgery in children: improved service model of enhanced recovery pathway and dedicated surgical team. ( 29807948 )
2018
23
Patients with disorders of sex development and proximal hypospadias are at high risk for reoperation. ( 29855697 )
2018
24
Expression of Xenobiotic Biomarkers CYP1 Family in Preputial Tissue of Patients with Hypospadias and Phimosis and Its Association with DNA Methylation Level of SRD5A2 Minimal Promoter. ( 29080015 )
2018
25
Tunica vaginalis flap for urethrocutaneous fistula repair after proximal and mid-shaft hypospadias surgery: A 12-year experience. ( 29859768 )
2018
26
Psychosocial and sexual outcome in adolescents after surgery for proximal hypospadias in childhood. ( 29940250 )
2018
27
Is distal hypospadias repair mostly a cosmetic operation? ( 29970334 )
2018
28
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias. ( 29332064 )
2018
29
Spontaneous renal hemorrhage secondary to choriocarcinoma in a man with congenital hypospadias and cryptorchidism: a case report and literature review. ( 29739453 )
2018
30
A Rare Case of Human Diphallia Associated with Hypospadias. ( 30009078 )
2018
31
Preoperative Illnesses in Children Do Not Increase the Risk of Complications After Hypospadias Repair. ( 29620719 )
2018
32
Proximal hypospadias treated with a transverse preputial island tube: long-term functional, sexual, and cosmetic outcomes. ( 29624839 )
2018
33
Commentary to "Hypospadias repair with the glanular frenular collar (GFC) technique". ( 29627153 )
2018
34
Somatically Acquired Isodicentric Y and Mosaic Loss of Chromosome Y in a Boy with Hypospadias. ( 29627832 )
2018
35
Re: Long-Term Functional Outcomes after Penoscrotal Hypospadias Repair: A Retrospective Comparative Study of Proximal TIP, Onlay, and Duckett. ( 29642338 )
2018
36
Age-related changes in urinary flow following dorsal inlay graft urethroplasty for hypospadias in early childhood: Potential improvement over 11 years of age. ( 29655861 )
2018
37
Contemporary outcomes of hypospadias retrieval surgery in adults. ( 29671932 )
2018
38
Does grafted tubularized incided plate improve the outcome after repair of primary distal hypospadias: A prospective randomized study? ( 29680277 )
2018
39
Transitioning patients with hypospadias and other penile abnormalities to adulthood: What to expect? ( 29681271 )
2018
40
Width proportion of the urethral plate to the glans can serve as an appraisal index of the urethral plate in hypospadias repair. ( 29717506 )
2018
41
Family History is Underestimated in Children with Isolated Hypospadias: A French Multicenter Report of 88 Families. ( 29723568 )
2018
42
Amniotic Fluid INSL3 Measured During the Critical Time Window in Human Pregnancy Relates to Cryptorchidism, Hypospadias, and Phthalate Load: A Large Case-Control Study. ( 29740335 )
2018
43
Genetic Polymorphism in the RYR1 C6487T Is Associated with Severity of Hypospadias in Chinese Han Children. ( 30027098 )
2018
44
Distal mesonephric duct anomalies in association with penile ectopia and complex hypospadias. ( 30027557 )
2018
45
Hypospadias-Nature and Nurture. ( 30030971 )
2018
46
The risk factors of Urethrocutaneous fistula after hypospadias surgery in the youth population. ( 30041630 )
2018
47
The Modified Multilayer Coverage of Urethroplasty for Distal Hypospadias. ( 30050262 )
2018
48
Shaping parents, shaping penises: How medical teams frame parents' decisions in response to hypospadias. ( 30054962 )
2018
49
Single nucleotide polymorphisms of HAAO and IRX 6 genes as risk factors for hypospadias. ( 30063927 )
2018
50
Secular trends in the incidence and timing of surgical intervention for congenital undescended testis and surgically treated hypospadias in Ontario, Canada between 1997 and 2007. ( 30072120 )
2018
Sources

Variations for Hypospadias

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Copy number variations for Hypospadias from CNVD:

7 (show all 17)
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 128209 6 154402135 154609693 Deletion MOR Hypospadia
2 128211 19 40300000 43000000 Deletion Wilms Hypospadia
3 128213 19 40300000 43000000 Deletion gene Hypospadia
4 128215 19 40300000 43000000 Deletion interacting Hypospadia
5 128217 19 40300000 43000000 Deletion protein Hypospadia
6 128219 19 40300000 43000000 Deletion proximal Hypospadia
7 128221 19 40300000 43000000 Deletion the Hypospadia
8 128223 4 70618892 70712488 Deletion to Hypospadia
9 128225 19 40300000 43000000 Deletion tumor Hypospadia
10 137135 2 138750000 144750000 Deletion ARHGAP15 Hypospadia
11 137139 2 138750000 144750000 Deletion GTDC1 Hypospadia
12 137143 2 138750000 144750000 Deletion HNMT Hypospadia
13 137147 2 138750000 144750000 Deletion KYNU Hypospadia
14 137151 2 138750000 144750000 Deletion LOC64702 Hypospadia
15 137155 2 138750000 144750000 Deletion LRP1B Hypospadia
16 137159 2 138750000 144750000 Deletion NXPH2 Hypospadia
17 137163 2 138750000 144750000 Deletion SPOPL Hypospadia
Sources

Expression for Hypospadias

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Search GEO for disease gene expression data for Hypospadias.
Sources

Pathways for Hypospadias

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Pathways related to Hypospadias according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of steroid hormones 66
Show member pathways
 11.4 CYP17A1 HSD17B3 SRD5A1 SRD5A2
2
Steroid hormone biosynthesis 37
Show member pathways
 11.08 CYP17A1 HSD17B3 SRD5A1 SRD5A2
3
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.25 CYP17A1 HSD17B3 SRD5A1 SRD5A2
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GO Terms for Hypospadias

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Cellular components related to Hypospadias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell body fiber GO:0070852 8.62 SRD5A1 SRD5A2

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

(show top 50) (show all 65)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.91 CYP17A1 SRD5A1 SRD5A2
2 phosphatidylinositol phosphorylation GO:0046854 9.91 FGF10 FGF8 FGFR2
3 lung development GO:0030324 9.9 FGF10 FGF8 FGFR2
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.88 FGF10 FGF8 FGFR2
5 response to organic cyclic compound GO:0014070 9.88 FGF10 FGF8 SRD5A1 SRD5A2
6 epithelial cell differentiation GO:0030855 9.87 FGF10 FGFR2 WT1
7 hippocampus development GO:0021766 9.86 SRD5A1 SRD5A2 ZEB2
8 inner ear morphogenesis GO:0042472 9.85 FGF10 FGF8 FGFR2
9 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.8 FGF10 FGF8 FGFR2
10 steroid biosynthetic process GO:0006694 9.8 CYP17A1 HSD17B3 SRD5A1 SRD5A2
11 positive regulation of Wnt signaling pathway GO:0030177 9.77 FGF10 FGFR2 ZEB2
12 bone development GO:0060348 9.76 FGF8 FGFR2 SRD5A1 SRD5A2
13 response to testosterone GO:0033574 9.75 HOXD13 SRD5A1 SRD5A2
14 embryonic digestive tract morphogenesis GO:0048557 9.73 FGF10 FGFR2
15 androgen metabolic process GO:0008209 9.73 SRD5A1 SRD5A2
16 prostate gland development GO:0030850 9.73 AR HOXD13
17 gonad development GO:0008406 9.72 FGF8 WT1
18 hypothalamus development GO:0021854 9.72 SRD5A1 SRD5A2
19 male sex determination GO:0030238 9.72 NR5A1 SRY
20 mesonephros development GO:0001823 9.71 FGF10 FGF8
21 cell proliferation in forebrain GO:0021846 9.71 FGF8 ZEB2
22 organ growth GO:0035265 9.71 FGF10 FGFR2
23 limb bud formation GO:0060174 9.71 FGF10 FGFR2
24 organ induction GO:0001759 9.71 FGF10 FGF8
25 protein localization to microtubule GO:0035372 9.7 MID1 MID2
26 cellular response to testosterone stimulus GO:0071394 9.69 AR SRD5A1
27 gland morphogenesis GO:0022612 9.69 FGFR2 HOXD13
28 limb morphogenesis GO:0035108 9.69 FGF10 FGF8 HOXD13
29 progesterone metabolic process GO:0042448 9.68 CYP17A1 SRD5A1
30 cellular response to gonadotropin stimulus GO:0071371 9.68 LHCGR WT1
31 reproductive structure development GO:0048608 9.68 AR FGFR2
32 bud elongation involved in lung branching GO:0060449 9.67 FGF10 FGFR2
33 lacrimal gland development GO:0032808 9.66 FGF10 FGFR2
34 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.66 FGFR2 HOXD13
35 animal organ formation GO:0048645 9.65 AR FGF10
36 epidermis morphogenesis GO:0048730 9.65 FGF10 FGFR2
37 female genitalia development GO:0030540 9.65 SRD5A1 SRD5A2
38 branching involved in salivary gland morphogenesis GO:0060445 9.65 FGF10 FGF8 FGFR2
39 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.64 FGFR2 HOXD13
40 response to follicle-stimulating hormone GO:0032354 9.64 SRD5A1 SRD5A2
41 testosterone biosynthetic process GO:0061370 9.63 HSD17B3 SRD5A2
42 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.62 FGF10 FGFR2
43 male genitalia morphogenesis GO:0048808 9.61 AR FGF10
44 morphogenesis of an epithelial fold GO:0060571 9.6 AR HOXD13
45 positive regulation of male gonad development GO:2000020 9.58 NR5A1 SRY WT1
46 negative regulation of female gonad development GO:2000195 9.57 NR5A1 WT1
47 branch elongation involved in salivary gland morphogenesis GO:0060667 9.56 FGF10 FGFR2
48 androgen biosynthetic process GO:0006702 9.56 CYP17A1 HSD17B3 SRD5A1 SRD5A2
49 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.55 FGF10 FGFR2
50 sex differentiation GO:0007548 9.55 AR CYP17A1 SRD5A1 SRD5A2 SRY

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.97 AR ATF3 HOXA13 HOXD13 NR5A1 SRY
2 DNA-binding transcription factor activity GO:0003700 9.91 AR ATF3 HOXD13 NR5A1 SRY WT1
3 sequence-specific DNA binding GO:0043565 9.8 AR HOXA13 HOXD13 NR5A1 WT1 ZEB2
4 proximal promoter DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001077 9.76 AR HOXD13 SRY WT1
5 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.65 FGF10 FGF8 FGFR2
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.58 FGF10 FGF8 FGFR2
7 1-phosphatidylinositol-3-kinase activity GO:0016303 9.43 FGF10 FGF8 FGFR2
8 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.16 SRD5A1 SRD5A2
9 amide binding GO:0033218 8.96 SRD5A1 SRD5A2
10 cholestenone 5-alpha-reductase activity GO:0047751 8.62 SRD5A1 SRD5A2
Sources

Sources for Hypospadias

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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
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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