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MCID: HYP040
MIFTS: 59

Hypospadias

Categories: Rare diseases, Reproductive diseases, Fetal diseases, Genetic 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 29 55 6 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


External Ids:

Disease Ontology 12 DOID:10892
ICD10 33 Q54 Q54.9
MeSH 44 D007021
NCIt 50 C40341
SNOMED-CT 68 416010008
Orphanet 59 ORPHA440
ICD10 via Orphanet 34 Q54.0 Q54.1 Q54.2 more
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 5-alpha reductase deficiency and androgen insensitivity, partial. An important gene associated with Hypospadias is MAMLD1 (Mastermind Like Domain Containing 1), and among its related pathways/superpathways are Neural Crest Differentiation and Metabolism of steroid hormones. The drugs Dexmedetomidine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include skin, testis and smooth muscle, and related phenotypes are hypospadias and growth/size/body region

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 197)
# Related Disease Score Top Affiliating Genes
1 5-alpha reductase deficiency 33.7 SRD5A1 SRD5A2
2 androgen insensitivity, partial 32.7 AR SRD5A1
3 androgen insensitivity syndrome 32.1 AR MAMLD1 NR5A1 SRD5A2 SRY
4 46,xx sex reversal 1 31.7 NR5A1 SOX9 SRD5A1 SRY
5 hermaphroditism 30.7 SOX9 SRD5A2 SRY
6 gynecomastia 30.4 AR HSD17B3 SRY
7 cryptorchidism, unilateral or bilateral 30.1 AR NR5A1 SRY WT1
8 sex differentiation disease 30.1 AR CYP17A1 HSD17B3 SRY
9 transsexualism 29.9 AR CYP17A1
10 wilms tumor 1 29.7 AR ATF3 NR5A1 SRY WT1
11 gonadal dysgenesis 29.6 NR5A1 SOX9 SRY WT1
12 mixed gonadal dysgenesis 29.4 SOX9 SRY
13 pseudohermaphroditism 29.0 AR CYP17A1 HSD17B3 NR5A1 SRD5A2 SRY
14 persistent mullerian duct syndrome 28.8 FGFR2 NR5A1 SOX9 SRY WT1
15 pseudovaginal perineoscrotal hypospadias 12.3
16 preaxial deficiency, postaxial polydactyly, and hypospadias 12.3
17 hypospadias 1, x-linked 12.2
18 hypospadias 2, x-linked 12.2
19 posterior hypospadias 12.1
20 hypospadias-intellectual disability, goldblatt type syndrome 12.0
21 hypospadias-mental retardation syndrome 12.0
22 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 12.0
23 radial hypoplasia, triphalangeal thumbs and hypospadias 12.0
24 hypospadias 3, autosomal 11.9
25 hypospadias 4, x-linked 11.9
26 opitz gbbb syndrome, type i 11.8
27 spina bifida hypospadias 11.8
28 schilbach-rott syndrome 11.8
29 anal atresia, hypospadias, and penoscrotal inversion 11.8
30 deafness hypospadias metacarpal and metatarsal syndrome 11.8
31 tracheophageal fistula hypospadias 11.8
32 myopathy-growth delay-intellectual disability-hypospadias syndrome 11.8
33 lower limb malformation-hypospadias syndrome 11.8
34 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 11.8
35 opitz-gbbb syndrome 11.8
36 opitz gbbb syndrome, type ii 11.7
37 acrofrontofacionasal dysostosis 2 11.6
38 schmitt gillenwater kelly syndrome 11.4
39 elsahy-waters syndrome 11.4
40 hypogonadotropic hypogonadism 11.1
41 hand-foot-genital syndrome 11.1
42 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.1
43 mowat-wilson syndrome 11.1
44 acrofacial dysostosis, catania type 10.9
45 leydig cell hypoplasia, type i 10.9
46 pfeiffer kapferer syndrome 10.8
47 say carpenter syndrome 10.8
48 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.7
49 say syndrome 10.7
50 acrocallosal syndrome 10.7

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 (show all 13)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 HOXD13 MID1 WT1 NR5A1 HOXA13 SOX9
2 endocrine/exocrine gland MP:0005379 10.26 HOXD13 SRD5A1 SRD5A2 WT1 NR5A1 HOXA13
3 embryo MP:0005380 10.24 HOXD13 MID1 WT1 NR5A1 HOXA13 SOX9
4 mortality/aging MP:0010768 10.18 SOX9 HOXD13 MID1 FGFR2 NR5A1 HOXA13
5 digestive/alimentary MP:0005381 10.05 SOX9 HOXD13 HOXA13 FGF8 FGFR2 FGF10
6 adipose tissue MP:0005375 10 SOX9 ATF3 CYP17A1 FGFR2 FGF10 AR
7 limbs/digits/tail MP:0005371 9.98 SOX9 HOXD13 HOXA13 FGF8 FGFR2 FGF10
8 muscle MP:0005369 9.97 HOXD13 MID1 WT1 SOX9 FGF8 FGFR2
9 no phenotypic analysis MP:0003012 9.87 SOX9 HOXD13 SRD5A2 WT1 ZEB2 ATF3
10 normal MP:0002873 9.86 SOX9 MID1 NR5A1 WT1 FGF8 FGFR2
11 renal/urinary system MP:0005367 9.81 HOXD13 WT1 HOXA13 SOX9 CYP17A1 FGFR2
12 reproductive system MP:0005389 9.77 HOXD13 SRD5A1 SRD5A2 WT1 NR5A1 HOXA13
13 vision/eye MP:0005391 9.23 SOX9 HOXD13 HOXA13 ZEB2 FGF8 ATF3
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 132)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1 113775-47-6 68602 5311068
2
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 71273 175805
3
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 2180-92-9, 38396-39-3 2474
4 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
5 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
6 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2,Phase 1
7 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
10 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Hypnotics and Sedatives Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
14 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
15 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
16
Epinephrine Approved, Vet_approved Phase 2, Phase 3,Not Applicable 51-43-4 5816
17
Racepinephrine Approved Phase 2, Phase 3,Not Applicable 329-65-7 838
18
Atracurium Approved, Experimental, Investigational Phase 2, Phase 3 64228-79-1 47319
19
Atropine Approved, Vet_approved Phase 2, Phase 3 5908-99-6, 51-55-8 174174
20
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3,Phase 3 437-38-7 3345
21
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
22
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
23
Nitrous oxide Approved, Vet_approved Phase 2, Phase 3,Not Applicable 10024-97-2 948
24
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
25
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
26 Estradiol valerate Approved, Investigational, Vet_approved Phase 3 979-32-8
27
Polyestradiol phosphate Approved Phase 3 28014-46-2
28
Testosterone Approved, Investigational Phase 3 58-22-0 6013
29
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
30
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
31
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
32
leucovorin Approved, Nutraceutical Phase 3,Not Applicable 58-05-9 143 6006
33 Sugarcane Approved, Nutraceutical Phase 3
34 Hematinics Phase 3
35 Micronutrients Phase 3
36 Trace Elements Phase 3
37 Vitamin B Complex Phase 3,Not Applicable
38 Vitamins Phase 3
39 Adrenergic beta-Agonists Phase 2, Phase 3,Not Applicable
40 Anti-Asthmatic Agents Phase 2, Phase 3,Not Applicable
41 Autonomic Agents Phase 2, Phase 3,Phase 1,Not Applicable
42 Bronchodilator Agents Phase 2, Phase 3,Not Applicable
43 Epinephryl borate Phase 2, Phase 3,Not Applicable
44 Mydriatics Phase 2, Phase 3,Not Applicable
45 Respiratory System Agents Phase 2, Phase 3,Not Applicable
46 Vasoconstrictor Agents Phase 2, Phase 3,Not Applicable
47 Adjuvants, Anesthesia Phase 2, Phase 3,Phase 3
48 Analgesics, Opioid Phase 2, Phase 3,Phase 3,Phase 1,Not Applicable
49 Anesthetics, General Phase 2, Phase 3,Phase 3,Not Applicable
50 Anesthetics, Intravenous Phase 2, Phase 3,Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 55)
# Name Status NCT ID Phase Drugs
1 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Unknown status NCT02848157 Phase 4 Dexmedetomidine;plain ropivacaine;Ropivacaine
2 Pudendal Block Versus Caudal Block for Hypospadias Completed NCT02390388 Phase 4
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 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
5 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
6 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications Completed NCT01370798 Phase 3 promestriene;Placebo
7 Dexmedetomidine Infusion in Hypospadias Surgery Completed NCT00926705 Phase 3 Dexmedetomidine and Fentanyl;Fentanyl
8 2-octyl Cyanoacrylate for Closure of Urethrocutaneous Fistula. Completed NCT02115191 Phase 3
9 Study Comparing the Polyurethane Films and Sugarcane Biopolymer Used as Dressings Completed NCT02531828 Phase 3
10 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
11 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
12 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
13 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
14 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
15 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
16 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
17 Caudal Combination of Dexamethasone and/or Dexmedetomidine to Bupivacaine in Pediatric Hypospadias Surgery Completed NCT03261921 Phase 1 Dexamethasone;Dexmedetomidine;Bupivacaine
18 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090 Not Applicable
19 Foreskin Graft Tubularized Incised Plate Urethroplasty vs Tubularized Incised Plate for Primary Hypospadias (FGTIP-TIP) Unknown status NCT02497963 Not Applicable
20 The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group Unknown status NCT01762007
21 Hemostasis During Hypospadias Surgery Unknown status NCT02268019 Not Applicable epinephrine injection
22 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
23 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420 Not Applicable
24 Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
25 Antibiotic Use in Distal Hypospadias Repair Completed NCT03275519 Not Applicable
26 Long Term Outcome of Hypospadias Repair Completed NCT02103712
27 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682
28 The Effect of Anesthetics on Oxidative Stress and Apoptosis Status in Children Completed NCT02711280 Not Applicable Sevoflurane;Propofol
29 DPNB vs. Modified DPNB With Ventromedial Infiltration (DPNB According to Dalens' Technique) Completed NCT01974011 Not Applicable
30 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
31 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389 Not Applicable
32 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205 Not Applicable
33 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
34 "iRestore" Light Therapy Apparatus Completed NCT03331003 Not Applicable
35 Boston Children's Hospital Post Anesthesia Care Unit Outcomes Study Completed NCT02189642
36 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
37 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
38 Effect of Steroids on Post-Operative Complications Following Proximal Hypospadias Repair Recruiting NCT02162810 Not Applicable Prednisolone;placebo-controlled
39 Effect of Caudal and Penile Block on Hypospadias Repair Complications Recruiting NCT02851290 Not Applicable
40 Caudal vs Local Anesthesia in Hypospadias Recruiting NCT02512887 Not Applicable Caudal Block Anesthesia;Dorsal Penile Block Anesthesia
41 Genetics of Disorders of Sex Development and Hypospadias Recruiting NCT03102554 Not Applicable
42 Ultrasound Guided Penile Block vs Pudendal Block for Hypospadias Recruiting NCT03496740 Not Applicable Bupivacaine (Block Drug)
43 Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis Recruiting NCT03295175
44 Effect of Caudal Nalbuphine on Postoperative Analgesia in Children Recruiting NCT02618876 Not Applicable Nalbuphine plus Bupivacaine;Bupivacaine
45 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638 Not Applicable
46 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
47 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
48 Prophylactic Antibiotics or Placebo After Hypospadias Repair Active, not recruiting NCT02096159 Not Applicable trimethoprim-sulfamethoxazole
49 Antibiotic Use Following Distal and Mid-shaft Hypospadias Repair Active, not recruiting NCT02593903 Not Applicable Septra
50 Effect of Mediterranean Diets Based on Organic and Conventional Foods Enrolling by invitation NCT03254537 Not Applicable

Search NIH Clinical Center for Hypospadias

Cochrane evidence based reviews: hypospadias

Sources

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, Smooth Muscle, Testes, Pituitary, Placenta, Small Intestine
Sources

Publications for Hypospadias

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Articles related to Hypospadias:

(show top 50) (show all 942)
# 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
Commentary to 'Current challenges with proximal hypospadias: We have a long way to go'. ( 28479205 )
2017
31
Response to Elwood, M. et al., Comment on: Maternal Exposure to Domestic Hair Cosmetics and Occupational Endocrine Disruptors Is Associated with a Higher Risk of Hypospadias in the Offspring. Int. J. Environ. Res. Public Health 2017, 14, 27. ( 28914781 )
2017
32
Management of the patient with failed hypospadias surgery presenting in adulthood. ( 29263781 )
2017
33
Role of urethral plate and fossa navicularis biopsies in the detection of balanitis xerotica obliterans in boys undergoing redo hypospadias repair. ( 29234536 )
2017
34
Maternal Stressors and Social Support and Risks of Delivering Babies With Gastroschisis or Hypospadias. ( 28505275 )
2017
35
The hypospadias classification affected the surgical outcomes of staged oral mucosa graft urethroplasty in hypospadias reoperation: An observational study. ( 29381913 )
2017
36
A One Stage Hypospadias Repair. ( 28012753 )
2017
37
Late surgical correction of hypospadias increases the risk of complications: a 501 consecutive patients series. ( 28083998 )
2017
38
Commentary: Management of High-Grade Penile Curvature Associated with Hypospadias in Children. ( 29270397 )
2017
39
Surgical Approaches and Long-Term Outcomes in Adults with Complex Reoperative Hypospadias Repair. ( 29198998 )
2017
40
Preoperative hormonal stimulation effect on hypospadias repair complications: Meta-analysis of observational versus randomized controlled studies. ( 28939350 )
2017
41
Testosterone prior to hypospadias repair: No clear-cut benefit or reassurance regarding long-term safety. ( 29248308 )
2017
42
Pediatric Penile and Glans Anthropometry Nomograms: An Aid in Hypospadias Management. ( 28082769 )
2017
43
The role of preoperative intra muscular testosterone in improving functional and cosmetic outcomes following hypospadias repair: A prospective randomized study. ( 28844754 )
2017
44
Impact of smartphone digital photography, email, and media communication on emergency room visits post-hypospadias repair. ( 28515816 )
2017
45
Current Status of Tissue Engineering in the Management of Severe Hypospadias. ( 29404308 )
2017
46
Management of High-Grade Penile Curvature Associated With Hypospadias in Children. ( 28929092 )
2017
47
Testosterone prior to hypospadias repair: Postoperative complication rates and long-term cosmetic results, penile length and body height. ( 29174377 )
2017
48
Outcome after Hypospadias Repair: Evaluation Using the Hypospadias Objective Penile Evaluation Score. ( 28505692 )
2017
49
Two-Stage Urethroplasty with Buccal Mucosa for Penoscrotal Hypospadias Reconstruction in a Male with a 46,XX Karyotype. ( 28752067 )
2017
50
Re: A Comparison between Tourniquet Application and Epinephrine Injection for Hemostasis during Hypospadias Surgery: The Effect on Bleeding and Postoperative Outcome. ( 28905770 )
2017
Sources

Variations for Hypospadias

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ClinVar genetic disease variations for Hypospadias:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(1;5)(p35.3;q31.3)dn Translocation Pathogenic
2 46;XY;t(2;14)(p23;q13)dn Translocation Uncertain significance
3 46;XY;t(2;13)(p25.2;q31.3)dn Translocation Uncertain significance
4 46;XY;inv(9)(q22.3q34.11)dn inversion Pathogenic
5 Translocation Likely pathogenic
6 46;XY;t(1;14)(q42;q13) Translocation Uncertain significance
7 46;XY;t(1;18)(q32.1;q22.1) Translocation Uncertain significance
8 HOXD13 NM_000523.3(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200750564 GRCh37 Chromosome 2, 176959246: 176959246
9 HOXD13 NM_000523.3(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs200750564 GRCh38 Chromosome 2, 176094518: 176094518
10 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh38 Chromosome 5, 36984990: 36984991
11 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh37 Chromosome 5, 36985092: 36985093
12 SETBP1 NM_015559.2(SETBP1): c.2614G> A (p.Gly872Arg) single nucleotide variant Likely pathogenic GRCh38 Chromosome 18, 44951954: 44951954
13 SETBP1 NM_015559.2(SETBP1): c.2614G> A (p.Gly872Arg) single nucleotide variant Likely pathogenic GRCh37 Chromosome 18, 42531919: 42531919
14 LMBR1; RNF32 GRCh37/hg19 7q36.3(chr7: 156333296-156556779) copy number gain Uncertain significance GRCh37 Chromosome 7, 156333296: 156556779
15 LMBR1; MNX1; NOM1 GRCh37/hg19 7q36.3(chr7: 156656444-156866708) copy number gain Uncertain significance GRCh37 Chromosome 7, 156656444: 156866708
16 ARID1B; TMEM242; ZDHHC14 GRCh37/hg19 6q25.3(chr6: 156772218-157870875)x3 copy number gain Uncertain significance GRCh37 Chromosome 6, 156772218: 157870875

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

About this section
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
Neural Crest Differentiation 1
11.51 FGF8 FGFR2 SOX9
2
Metabolism of steroid hormones 66
Show member pathways
 11.4 CYP17A1 HSD17B3 SRD5A1 SRD5A2
3
Neural Stem Cell Differentiation Pathways and Lineage-specific Markers 65
11.33 FGF10 FGF8 SOX9
4
Steroid hormone biosynthesis 37
Show member pathways
 11.07 CYP17A1 HSD17B3 SRD5A1 SRD5A2
5
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.25 CYP17A1 HSD17B3 SRD5A1 SRD5A2
Sources

GO Terms for Hypospadias

About this section

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 74)
# Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.92 CYP17A1 SRD5A1 SRD5A2
2 phosphatidylinositol phosphorylation GO:0046854 9.92 FGF10 FGF8 FGFR2
3 response to organic cyclic compound GO:0014070 9.92 FGF10 FGF8 SRD5A1 SRD5A2
4 lung development GO:0030324 9.91 FGF10 FGF8 FGFR2
5 fibroblast growth factor receptor signaling pathway GO:0008543 9.9 FGF10 FGF8 FGFR2
6 epithelial cell differentiation GO:0030855 9.9 FGF10 FGFR2 WT1
7 cell fate commitment GO:0045165 9.89 FGF8 FGFR2 SOX9
8 inner ear morphogenesis GO:0042472 9.89 FGF10 FGF8 FGFR2
9 hippocampus development GO:0021766 9.88 SRD5A1 SRD5A2 ZEB2
10 negative regulation of epithelial cell proliferation GO:0050680 9.88 AR FGFR2 SOX9
11 positive regulation of epithelial cell proliferation GO:0050679 9.88 FGF10 FGFR2 SOX9
12 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.85 FGF10 FGF8 FGFR2
13 steroid biosynthetic process GO:0006694 9.84 CYP17A1 HSD17B3 SRD5A1 SRD5A2
14 branching involved in ureteric bud morphogenesis GO:0001658 9.83 FGF8 SOX9 WT1
15 bone development GO:0060348 9.83 FGF8 FGFR2 SRD5A1 SRD5A2
16 positive regulation of Wnt signaling pathway GO:0030177 9.81 FGF10 FGFR2 ZEB2
17 response to testosterone GO:0033574 9.79 HOXD13 SRD5A1 SRD5A2
18 adrenal gland development GO:0030325 9.75 NR5A1 WT1
19 embryonic digestive tract morphogenesis GO:0048557 9.74 FGF10 FGFR2
20 hormone metabolic process GO:0042445 9.74 HSD17B3 NR5A1
21 androgen metabolic process GO:0008209 9.74 SRD5A1 SRD5A2
22 epithelial tube branching involved in lung morphogenesis GO:0060441 9.74 FGF10 SOX9
23 hypothalamus development GO:0021854 9.74 SRD5A1 SRD5A2
24 limb morphogenesis GO:0035108 9.74 FGF10 FGF8 HOXD13
25 mesonephros development GO:0001823 9.73 FGF10 FGF8
26 gonad development GO:0008406 9.73 FGF8 WT1
27 organ growth GO:0035265 9.73 FGF10 FGFR2
28 male sex determination GO:0030238 9.73 SOX9 SRY
29 cell proliferation in forebrain GO:0021846 9.73 FGF8 ZEB2
30 organ induction GO:0001759 9.72 FGF10 FGF8
31 cellular response to testosterone stimulus GO:0071394 9.72 AR SRD5A1
32 gland morphogenesis GO:0022612 9.72 FGFR2 HOXD13
33 prostate gland development GO:0030850 9.72 AR HOXD13 SOX9
34 protein localization to microtubule GO:0035372 9.71 MID1 MID2
35 reproductive structure development GO:0048608 9.71 AR FGFR2
36 bud elongation involved in lung branching GO:0060449 9.7 FGF10 FGFR2
37 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.7 FGFR2 HOXD13
38 epidermis morphogenesis GO:0048730 9.69 FGF10 FGFR2
39 female genitalia development GO:0030540 9.69 SRD5A1 SRD5A2
40 animal organ formation GO:0048645 9.69 AR FGF10
41 limb bud formation GO:0060174 9.69 FGF10 FGFR2 SOX9
42 testosterone biosynthetic process GO:0061370 9.68 HSD17B3 SRD5A2
43 response to follicle-stimulating hormone GO:0032354 9.68 SRD5A1 SRD5A2
44 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.68 FGFR2 HOXD13
45 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.67 FGF10 FGFR2
46 prostate gland morphogenesis GO:0060512 9.67 FGFR2 SOX9
47 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGF10 FGF8 FGFR2
48 androgen biosynthetic process GO:0006702 9.67 CYP17A1 HSD17B3 SRD5A1 SRD5A2
49 male genitalia morphogenesis GO:0048808 9.65 AR FGF10
50 progesterone metabolic process GO:0042448 9.65 CYP17A1 SRD5A1 SRD5A2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.95 AR ATF3 HOXD13 NR5A1 SOX9 SRY
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.83 AR HOXD13 SOX9 WT1
3 transcription regulatory region DNA binding GO:0044212 9.81 AR ATF3 SOX9 WT1
4 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.71 FGF10 FGF8 FGFR2
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.67 ATF3 NR5A1 SOX9
6 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.63 FGF10 FGF8 FGFR2
7 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.61 NR5A1 SOX9 SRY
8 RNA polymerase II transcription factor activity, sequence-specific DNA binding GO:0000981 9.61 AR ATF3 HOXA13 HOXD13 NR5A1 SOX9
9 1-phosphatidylinositol-3-kinase activity GO:0016303 9.54 FGF10 FGF8 FGFR2
10 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.32 SRD5A1 SRD5A2
11 cholestenone 5-alpha-reductase activity GO:0047751 9.26 SRD5A1 SRD5A2
12 sequence-specific DNA binding GO:0043565 9.17 AR HOXA13 HOXD13 NR5A1 SOX9 WT1
13 amide binding GO:0033218 9.16 SRD5A1 SRD5A2
14 DNA binding GO:0003677 10.13 AR ATF3 HOXA13 HOXD13 NR5A1 SOX9
Sources

Sources for Hypospadias

About this section
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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