MCID: HYP040
MIFTS: 60

Hypospadias

Categories: Rare diseases, Reproductive diseases, Genetic diseases, Fetal diseases

Aliases & Classifications for Hypospadias

MalaCards integrated aliases for Hypospadias:

Name: Hypospadias 12 28 51 41 14
Familial Hypospadias 12 55
Hypospadias Familial 72 49

Characteristics:

Orphanet epidemiological data:

55
familial hypospadias
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

Classifications:



External Ids:

Disease Ontology 12 DOID:10892
ICD10 32 Q54 Q54.9
MeSH 41 D007021
NCIt 46 C40341
SNOMED-CT 64 416010008
Orphanet 55 ORPHA440
ICD10 via Orphanet 33 Q54.0 Q54.1 Q54.2 more
SNOMED-CT via HPO 65 204888000
UMLS 69 C0848558

Summaries for Hypospadias

NIH Rare Diseases : 49 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. Last updated: 5/4/2006

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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Bupivacaine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include skin, testis and smooth muscle, and related phenotypes are growth/size/body region 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 : 72 Hypospadias is a congenital disorder of the urethra where the urinary opening is not at the usual... more...

Related Diseases for Hypospadias

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 201)
# Related Disease Score Top Affiliating Genes
1 5-alpha reductase deficiency 33.3 SRD5A1 SRD5A2
2 androgen insensitivity, partial 32.0 AR SRD5A1
3 androgen insensitivity syndrome 31.9 AR MAMLD1 NR5A1 SRD5A2 SRY
4 46,xx sex reversal 1 31.6 NR5A1 SOX9 SRD5A1 SRY
5 cryptorchidism, unilateral or bilateral 31.0 AR NR5A1 SRY WT1
6 hermaphroditism 30.2 AR SOX9 SRD5A2 SRY
7 gynecomastia 30.1 AR HSD17B3 SRY
8 sex differentiation disease 30.1 AR CYP17A1 HSD17B3 SRY
9 pseudohermaphroditism 29.8 AR CYP17A1 HSD17B3 SRD5A2 WT1
10 transsexualism 29.7 AR CYP17A1
11 gonadal dysgenesis 29.5 NR5A1 SOX9 SRY WT1
12 wilms tumor 1 29.4 AR ATF3 NR5A1 SRY WT1
13 mixed gonadal dysgenesis 29.4 SOX9 SRY
14 persistent mullerian duct syndrome 29.0 FGFR2 NR5A1 SOX9 SRY WT1
15 pseudovaginal perineoscrotal hypospadias 12.3
16 preaxial deficiency, postaxial polydactyly, and hypospadias 12.2
17 hypospadias 1, x-linked 12.2
18 hypospadias 2, x-linked 12.1
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, hypertelorism, upper lid coloboma, and mixed-type hearing loss 11.9
25 hypospadias 3, autosomal 11.9
26 hypospadias 4, x-linked 11.9
27 opitz gbbb syndrome, type i 11.8
28 spina bifida hypospadias 11.8
29 schilbach-rott syndrome 11.8
30 anal atresia, hypospadias, and penoscrotal inversion 11.8
31 deafness hypospadias metacarpal and metatarsal syndrome 11.8
32 tracheophageal fistula hypospadias 11.8
33 myopathy-growth delay-intellectual disability-hypospadias syndrome 11.8
34 lower limb deficiency-hypospadias syndrome 11.8
35 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 11.8
36 opitz gbbb syndrome, type ii 11.7
37 opitz-gbbb syndrome 11.7
38 acrofrontofacionasal dysostosis 2 11.6
39 schmitt gillenwater kelly syndrome 11.5
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 say syndrome 10.7
49 acrocallosal syndrome 10.7
50 brachioskeletogenital syndrome 10.7

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to Hypospadias

Symptoms & Phenotypes for Hypospadias

Human phenotypes related to Hypospadias:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 55 31 hallmark (90%) Very frequent (99-80%) HP:0000047

MGI Mouse Phenotypes related to Hypospadias:

43 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.25 WT1 ZEB2 MID1 NR5A1 SOX9 AR
2 endocrine/exocrine gland MP:0005379 10.23 AR ATF3 FGF10 FGF8 FGFR2 HOXA13
3 embryo MP:0005380 10.22 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
4 digestive/alimentary MP:0005381 10.04 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
5 adipose tissue MP:0005375 9.99 ATF3 CYP17A1 FGF10 FGFR2 SOX9 AR
6 muscle MP:0005369 9.97 AR FGF10 FGF8 FGFR2 HOXD13 MID1
7 limbs/digits/tail MP:0005371 9.95 FGF8 FGFR2 HOXA13 HOXD13 SOX9 AR
8 no phenotypic analysis MP:0003012 9.87 ATF3 FGFR2 HOXD13 SOX9 SRD5A2 WT1
9 normal MP:0002873 9.86 AR FGF10 FGF8 FGFR2 MID1 NR5A1
10 renal/urinary system MP:0005367 9.81 AR CYP17A1 FGF10 FGF8 FGFR2 HOXA13
11 reproductive system MP:0005389 9.77 AR CYP17A1 FGF10 FGF8 FGFR2 HOXA13
12 vision/eye MP:0005391 9.23 ATF3 FGF10 FGF8 FGFR2 HOXA13 HOXD13

Drugs & Therapeutics for Hypospadias

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

(show top 50) (show all 130)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 38396-39-3, 2180-92-9 2474
2
Ropivacaine Approved Phase 4 84057-95-4 175805 71273
3
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1 76631-46-4, 113775-47-6 5311068 56032 68602
4 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1
5 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1
6 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1
7 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1
8 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1
9 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1
10 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1
11 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1
12 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2,Phase 1
13 Analgesics Phase 4,Phase 2,Phase 3,Phase 1
14 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1
15 Hypnotics and Sedatives Phase 4,Phase 3,Phase 2,Phase 1
16
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
17 Racepinephrine Approved Phase 2, Phase 3 329-65-7
18
Atropine Approved, Vet_approved Phase 2, Phase 3 5908-99-6, 51-55-8 174174
19
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 437-38-7 3345
20
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
21
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
22
Nitrous oxide Approved, Vet_approved Phase 2, Phase 3 10024-97-2 948
23
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
24
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
25
Testosterone Approved, Investigational Phase 3 58-22-0 6013
26
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
27
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
28
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
29
leucovorin Approved, Nutraceutical Phase 3 58-05-9 143 6006
30 Sugarcane Approved, Nutraceutical Phase 3
31 Hematinics Phase 3
32 Micronutrients Phase 3
33 Trace Elements Phase 3
34 Vitamin B Complex Phase 3
35 Vitamins Phase 3
36 Adrenergic beta-Agonists Phase 2, Phase 3
37 Anti-Asthmatic Agents Phase 2, Phase 3
38 Autonomic Agents Phase 2, Phase 3,Phase 1
39 Bronchodilator Agents Phase 2, Phase 3
40 Epinephryl borate Phase 2, Phase 3
41 Mydriatics Phase 2, Phase 3
42 Respiratory System Agents Phase 2, Phase 3
43 Vasoconstrictor Agents Phase 2, Phase 3
44 Adjuvants, Anesthesia Phase 2, Phase 3
45 Analgesics, Opioid Phase 2, Phase 3, Phase 1
46 Anesthetics, General Phase 2, Phase 3
47 Anesthetics, Intravenous Phase 2, Phase 3
48 Anti-Arrhythmia Agents Phase 2, Phase 3
49
Atracurium Phase 2, Phase 3 64228-79-1 47319
50 Cholinergic Agents Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 52)

# Name Status NCT ID Phase Drugs
1 Pudendal Block Versus Caudal Block for Hypospadias Completed NCT02390388 Phase 4
2 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
3 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Not yet recruiting NCT02848157 Phase 4 Dexmedetomidine;plain ropivacaine;Ropivacaine
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 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850 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 Caudal Combination of Dexamethasone and/or Dexmedetomidine to Bupivacaine in Pediatric Hypospadias Surgery Completed NCT03261921 Phase 1 Dexamethasone;Dexmedetomidine;Bupivacaine
19 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090
20 Foreskin Graft Tubularized Incised Plate Urethroplasty vs Tubularized Incised Plate for Primary Hypospadias (FGTIP-TIP) Unknown status NCT02497963
21 The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group Unknown status NCT01762007
22 Hemostasis During Hypospadias Surgery Unknown status NCT02268019 epinephrine injection
23 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Simvastatin
24 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
25 Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
26 Antibiotic Use in Distal Hypospadias Repair Completed NCT03275519
27 Long Term Outcome of Hypospadias Repair Completed NCT02103712
28 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682
29 The Effect of Anesthetics on Oxidative Stress and Apoptosis Status in Children Completed NCT02711280 Sevoflurane;Propofol
30 DPNB vs. Modified DPNB With Ventromedial Infiltration (DPNB According to Dalens' Technique) Completed NCT01974011
31 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
32 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
33 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205
34 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
35 "iRestore" Light Therapy Apparatus Completed NCT03331003
36 Boston Children's Hospital Post Anesthesia Care Unit Outcomes Study Completed NCT02189642
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 Prednisolone;placebo-controlled
39 Effect of Caudal and Penile Block on Hypospadias Repair Complications Recruiting NCT02851290
40 Prophylactic Antibiotics or Placebo After Hypospadias Repair Recruiting NCT02096159 trimethoprim-sulfamethoxazole
41 Caudal vs Local Anesthesia in Hypospadias Recruiting NCT02512887 Caudal Block Anesthesia (bupivacaine without epinephrine);Dorsal Penile Block Anesthesia (bupivacaine without epinephrine)
42 Genetics of Disorders of Sex Development and Hypospadias Recruiting NCT03102554
43 Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis Recruiting NCT03295175
44 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638
45 Bohring-Opitz Syndrome and ASXL Registry Recruiting NCT03303716
46 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
47 Antibiotic Use Following Distal and Mid-shaft Hypospadias Repair Active, not recruiting NCT02593903 Septra
48 Effect of Mediterranean Diets Based on Organic and Conventional Foods Enrolling by invitation NCT03254537
49 Comparison of Pudendal Nerve Block and Caudal Block for Hypospadias in Young Children Not yet recruiting NCT03145415
50 Outcomes of Surgical Correction of Penile Curvature in Adult Not yet recruiting NCT03313986

Search NIH Clinical Center for Hypospadias

Cochrane evidence based reviews: hypospadias

Genetic Tests for Hypospadias

Genetic tests related to Hypospadias:

# Genetic test Affiliating Genes
1 Hypospadias 28

Anatomical Context for Hypospadias

MalaCards organs/tissues related to Hypospadias:

38
Skin, Testis, Smooth Muscle, Pituitary, Testes, Placenta, Breast

Publications for Hypospadias

Articles related to Hypospadias:

(show top 50) (show all 899)
# Title Authors Year
1
Role of uroflowmetry before and after hypospadias repair. ( 29416276 )
2018
2
Re: Worldwide Prevalence of Hypospadias. ( 29310187 )
2018
3
Recurrent Intragenic Duplication within the NR5A1 Gene and Severe Proximal Hypospadias. ( 29332064 )
2018
4
Reply to comments on 'The association between caudal anesthesia and increased risk of postoperative surgical complications in boys undergoing hypospadias repair'. ( 29436130 )
2018
5
A new technique for adult hypospadias repair: A combination of TIPU and Mathieu techniques. ( 29413228 )
2018
6
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
7
Risk factors for failed urethrocutaneous fistula repair after transverse preputial island flap urethroplasty in pediatric hypospadias. ( 29282594 )
2018
8
Re: Penile Appearance after Hypospadias Correction from a Parent's Point of View: Comparison of the Hypospadias Objective Penile Evaluation Score and Parents Penile Perception Score. ( 28505945 )
2017
9
Pediatric Penile and Glans Anthropometry Nomograms: An Aid in Hypospadias Management. ( 28082769 )
2017
10
In pursuit of the perfect penis: Hypospadias repair outcomes. ( 28351650 )
2017
11
Management of 220 adolescents and adults with complications of hypospadias repair during childhood. ( 29264201 )
2017
12
Impact of smartphone digital photography, email, and media communication on emergency room visits post-hypospadias repair. ( 28515816 )
2017
13
Histological and Biochemical Evaluation of Urethral Scar following Three Different Hypospadias Repairs: An Experimental Study in Rabbits. ( 28838000 )
2017
14
[Karyotyping and analysis of 5I+ -reductase-2 gene mutation in 25 patients with hypospadias]. ( 28397209 )
2017
15
Single penile incision for combined hypospadias and inguinal surgery: A comparative study. ( 28503233 )
2017
16
Maternal Stressors and Social Support and Risks of Delivering Babies With Gastroschisis or Hypospadias. ( 28505275 )
2017
17
History of hypospadias: Lost in translation. ( 27989535 )
2017
18
Comparison of interrupted- and continuous-suture urethroplasty in tubularised incised-plate hypospadias repair: A prospective study. ( 29234534 )
2017
19
Echocardiographic evaluation of left ventricular mass index in children with hypospadias after hormonal stimulation with topical testosterone: A randomized controlled trial. ( 28434633 )
2017
20
Management of the patient with failed hypospadias surgery presenting in adulthood. ( 29263781 )
2017
21
Use of Hormones, Tissue Factors and Bioengineering in the Management of Hypospadias. ( 28429283 )
2017
22
Associations of TGFBR1 and TGFBR2 gene polymorphisms with the risk of hypospadias: a case-control study in a Chinese population. ( 28894026 )
2017
23
Use of Bipedicled Dorsal Penile Flap with Z Release Incision: a New Option in Redo Hypospadias Surgery. ( 28495506 )
2017
24
Foreskin reconstruction vs circumcision in distal hypospadias. ( 28856414 )
2017
25
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
26
What Is Hypospadias? ( 28081624 )
2017
27
Preoperative hormonal stimulation effect on hypospadias repair complications: Meta-analysis of observational versus randomized controlled studies. ( 28939350 )
2017
28
The role of preoperative intra muscular testosterone in improving functional and cosmetic outcomes following hypospadias repair: A prospective randomized study. ( 28844754 )
2017
29
Association of SRD5A2 gene mutations with risk of hypospadias in the Iranian population. ( 27848231 )
2017
30
Surgical Approaches and Long-Term Outcomes in Adults with Complex Reoperative Hypospadias Repair. ( 29198998 )
2017
31
Frequency of Antibiotic-Associated Diarrhea and Related Complications in Pediatric Patients Who Underwent Hypospadias Repair: a Comparative Study Using Probiotics vs Placebo. ( 28871492 )
2017
32
Commentary: Management of High-Grade Penile Curvature Associated with Hypospadias in Children. ( 29270397 )
2017
33
Late surgical correction of hypospadias increases the risk of complications: a 501 consecutive patients series. ( 28083998 )
2017
34
Psychosocial outcomes in adult men born with hypospadias: A register-based study. ( 28384289 )
2017
35
Testosterone prior to hypospadias repair: No clear-cut benefit or reassurance regarding long-term safety. ( 29248308 )
2017
36
One-stage repair of proximal hypospadias with severe chordee by in situ tubularization of the transverse preputial island flap. ( 28359778 )
2017
37
The hypospadias classification affected the surgical outcomes of staged oral mucosa graft urethroplasty in hypospadias reoperation: An observational study. ( 29381913 )
2017
38
Staged Tubularized Autograft Repair for Primary Proximal Hypospadias with 30-Degree or Greater Ventral Curvature. ( 28400187 )
2017
39
Distal urethral plate adhesions: New anatomical perspective in hypospadias. ( 29183664 )
2017
40
Hypospadias Repair. ( 28010977 )
2017
41
Hypospadias in a male infant with an unusual mosaic 45,X/46,X,psu idic(Y)(p11.32)/46,XY and haploinsufficiency of SHOX: A case report. ( 28498391 )
2017
42
Current Status of Tissue Engineering in the Management of Severe Hypospadias. ( 29404308 )
2017
43
Ultrasound diagnosis of fetal hypospadias: Accuracy and outcomes. ( 28389178 )
2017
44
The role of tunica vaginalis flap in staged repair of hypospadias. ( 29264214 )
2017
45
Re: A Comparison between Tourniquet Application and Epinephrine Injection for Hemostasis during Hypospadias Surgery: The Effect on Bleeding and Postoperative Outcome. ( 28905770 )
2017
46
Emerging role of preputial vascular pattern and postoperative microvessel density in cases of proximal hypospadias: A pilot study. ( 29323065 )
2017
47
A retrospective analysis of mathieu and tip urethroplasty techniques for distal hypospadias repair; A 20 year experience. ( 28891801 )
2017
48
Re: Better Defining the Spectrum of Adult Hypospadias: Examining the Effect of Childhood Surgery on Adult Presentation. ( 28905774 )
2017
49
A population-based study of prevalence trends and geospatial analysis of hypospadias and cryptorchidism compared with non-endocrine mediated congenital anomalies. ( 28351651 )
2017
50
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. ( 28906429 )
2017

Variations for Hypospadias

ClinVar genetic disease variations for Hypospadias:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 HOXD13 NM_000523.3(HOXD13): c.820C> T (p.Arg274Ter) single nucleotide variant Pathogenic/Likely pathogenic rs200750564 GRCh37 Chromosome 2, 176959246: 176959246

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

Expression for Hypospadias

Search GEO for disease gene expression data for Hypospadias.

Pathways for Hypospadias

GO Terms for Hypospadias

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 72)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol phosphorylation GO:0046854 9.92 FGF10 FGF8 FGFR2
2 response to organic cyclic compound GO:0014070 9.92 FGF10 FGF8 SRD5A1 SRD5A2
3 lung development GO:0030324 9.91 FGF10 FGF8 FGFR2
4 positive regulation of MAPK cascade GO:0043410 9.91 AR FGF10 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 hippocampus development GO:0021766 9.89 SRD5A1 SRD5A2 ZEB2
8 negative regulation of epithelial cell proliferation GO:0050680 9.89 AR FGFR2 SOX9
9 positive regulation of epithelial cell proliferation GO:0050679 9.88 FGF10 FGFR2 SOX9
10 inner ear morphogenesis GO:0042472 9.88 FGF10 FGF8 FGFR2
11 cell fate commitment GO:0045165 9.87 FGF8 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 tissue development GO:0009888 9.74 NR5A1 WT1
20 androgen metabolic process GO:0008209 9.74 SRD5A1 SRD5A2
21 epithelial tube branching involved in lung morphogenesis GO:0060441 9.74 FGF10 SOX9
22 hypothalamus development GO:0021854 9.74 SRD5A1 SRD5A2
23 gonad development GO:0008406 9.73 FGF8 WT1
24 mesonephros development GO:0001823 9.73 FGF10 FGF8
25 organ growth GO:0035265 9.73 FGF10 FGFR2
26 male sex determination GO:0030238 9.73 SOX9 SRY
27 cell proliferation in forebrain GO:0021846 9.73 FGF8 ZEB2
28 limb morphogenesis GO:0035108 9.73 FGF10 FGF8 HOXD13
29 organ induction GO:0001759 9.72 FGF10 FGF8
30 cellular response to testosterone stimulus GO:0071394 9.72 AR SRD5A1
31 gland morphogenesis GO:0022612 9.72 FGFR2 HOXD13
32 prostate gland development GO:0030850 9.72 AR HOXD13 SOX9
33 protein localization to microtubule GO:0035372 9.71 MID1 MID2
34 reproductive structure development GO:0048608 9.71 AR FGFR2
35 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.7 FGFR2 HOXD13
36 bud elongation involved in lung branching GO:0060449 9.7 FGF10 FGFR2
37 epidermis morphogenesis GO:0048730 9.7 FGF10 FGFR2
38 response to follicle-stimulating hormone GO:0032354 9.69 SRD5A1 SRD5A2
39 branching involved in salivary gland morphogenesis GO:0060445 9.69 FGF10 FGF8 FGFR2
40 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.68 FGFR2 HOXD13
41 female genitalia development GO:0030540 9.68 SRD5A1 SRD5A2
42 testosterone biosynthetic process GO:0061370 9.68 HSD17B3 SRD5A2
43 animal organ formation GO:0048645 9.68 AR FGF10
44 prostate gland morphogenesis GO:0060512 9.67 FGFR2 SOX9
45 limb bud formation GO:0060174 9.67 FGF10 FGFR2 SOX9
46 androgen biosynthetic process GO:0006702 9.67 CYP17A1 HSD17B3 SRD5A1 SRD5A2
47 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.66 FGF10 FGFR2
48 morphogenesis of an epithelial fold GO:0060571 9.65 AR HOXD13
49 Harderian gland development GO:0070384 9.64 FGF10 SOX9
50 male genitalia morphogenesis GO:0048808 9.64 AR FGF10

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 DNA binding transcription factor activity GO:0003700 9.91 AR ATF3 HOXD13 NR5A1 SOX9 SRY
2 transcriptional activator activity, RNA polymerase II proximal promoter sequence-specific DNA binding GO:0001077 9.8 AR HOXD13 SOX9 WT1
3 transcription regulatory region DNA binding GO:0044212 9.78 AR ATF3 SOX9 WT1
4 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 9.61 NR5A1 SOX9 SRY
5 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.58 FGF10 FGF8 FGFR2
6 1-phosphatidylinositol-3-kinase activity GO:0016303 9.5 FGF10 FGF8 FGFR2
7 amide binding GO:0033218 9.26 SRD5A1 SRD5A2
8 sequence-specific DNA binding GO:0043565 9.17 AR HOXA13 HOXD13 NR5A1 SOX9 WT1
9 cholestenone 5-alpha-reductase activity GO:0047751 9.16 SRD5A1 SRD5A2
10 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 8.96 SRD5A1 SRD5A2
11 DNA binding GO:0003677 10.11 AR ATF3 HOXA13 HOXD13 NR5A1 SOX9

Sources for Hypospadias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
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36 KEGG
37 LifeMap
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41 MeSH
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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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