MCID: HYP040
MIFTS: 58

Hypospadias

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

Aliases & Classifications for Hypospadias

MalaCards integrated aliases for Hypospadias:

Name: Hypospadias 12 38 30 56 45 15 17
Familial Hypospadias 12 60
Hypospadias Familial 77 54

Characteristics:

Orphanet epidemiological data:

60
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
KEGG 38 H02175
MeSH 45 D007021
NCIt 51 C40341
ICD10 34 Q54 Q54.9
ICD10 via Orphanet 35 Q54.0 Q54.1 Q54.2 more
Orphanet 60 ORPHA440
SNOMED-CT via HPO 70 204888000
UMLS 74 C0848558

Summaries for Hypospadias

NIH Rare Diseases : 54 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 Dexamethasone have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and testes, 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 : 77 Hypospadias is a congenital disorder of the penis in which the urethra does not open from its 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 239)
# Related Disease Score Top Affiliating Genes
1 pseudovaginal perineoscrotal hypospadias 34.2 AR CYP17A1 SRD5A1 SRD5A2
2 5-alpha reductase deficiency 33.5 SRD5A1 SRD5A2
3 androgen insensitivity, partial 32.7 AR SRD5A1
4 androgen insensitivity syndrome 32.1 AR MAMLD1 NR5A1 SRD5A2 SRY
5 46,xx sex reversal 1 31.8 NR5A1 SRY
6 cryptorchidism, unilateral or bilateral 31.0 AR INSL3 NR5A1 SRY WT1
7 hermaphroditism 30.7 AR SRD5A2 SRY
8 gynecomastia 30.6 AR HSD17B3 SRY
9 transsexualism 30.0 AR CYP17A1
10 wilms tumor 1 30.0 AR NR5A1 SRY WT1
11 gonadal dysgenesis 30.0 NR5A1 SRY WT1
12 lipoid congenital adrenal hyperplasia 30.0 CYP17A1 NR5A1 SRY
13 pseudohermaphroditism 29.7 AR CYP17A1 HSD17B3 NR5A1 SRD5A2 SRY
14 persistent mullerian duct syndrome 29.6 INSL3 NR5A1 SRY WT1
15 hypospadias 1, x-linked 12.5
16 hypospadias 2, x-linked 12.5
17 preaxial deficiency, postaxial polydactyly, and hypospadias 12.5
18 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 12.4
19 posterior hypospadias 12.3
20 hypospadias-intellectual disability, goldblatt type syndrome 12.2
21 hypospadias-mental retardation syndrome 12.2
22 hypospadias 3, autosomal 12.1
23 opitz gbbb syndrome, type ii 12.1
24 opitz gbbb syndrome, type i 12.0
25 hypospadias 4, x-linked 12.0
26 spina bifida hypospadias 12.0
27 schilbach-rott syndrome 12.0
28 anal atresia, hypospadias, and penoscrotal inversion 12.0
29 deafness hypospadias metacarpal and metatarsal syndrome 12.0
30 tracheophageal fistula hypospadias 12.0
31 myopathy-growth delay-intellectual disability-hypospadias syndrome 12.0
32 lower limb malformation-hypospadias syndrome 12.0
33 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 12.0
34 opitz-gbbb syndrome 12.0
35 acrofrontofacionasal dysostosis 2 11.9
36 elsahy-waters syndrome 11.8
37 pfeiffer kapferer syndrome 11.3
38 hypogonadotropic hypogonadism 11.3
39 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.2
40 mowat-wilson syndrome 11.2
41 abruzzo-erickson syndrome 11.2
42 acrofacial dysostosis, catania type 11.2
43 leydig cell hypoplasia, type i 11.1
44 cardiac-urogenital syndrome 11.1
45 say carpenter syndrome 11.0
46 cleft, median, of upper lip with polyps of facial skin and nasal mucosa 10.9
47 say syndrome 10.9
48 acrocallosal syndrome 10.9
49 ritscher-schinzel syndrome 1 10.9
50 nijmegen breakage syndrome 10.9

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to Hypospadias

Symptoms & Phenotypes for Hypospadias

Human phenotypes related to Hypospadias:

60 33
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 60 33 hallmark (90%) Very frequent (99-80%) HP:0000047

MGI Mouse Phenotypes related to Hypospadias:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.15 AR ATF3 FGF10 FGF8 FGFR2 HOXA13
2 embryo MP:0005380 10.1 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
3 growth/size/body region MP:0005378 10.1 AR ATF3 CYP17A1 FGF10 FGF8 FGFR2
4 limbs/digits/tail MP:0005371 9.73 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
5 muscle MP:0005369 9.7 AR FGF10 FGF8 FGFR2 HOXD13 MID1
6 renal/urinary system MP:0005367 9.5 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
7 reproductive system MP:0005389 9.44 AR CYP17A1 FGF10 FGF8 FGFR2 HOXA13

Drugs & Therapeutics for Hypospadias

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

(show top 50) (show all 154)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4,Not Applicable 84057-95-4 175805 71273
2
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 1 50-02-2 5743
3
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4,Phase 1 1177-87-3
4
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3,Phase 1,Not Applicable 113775-47-6 5311068 68602
5
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable 38396-39-3, 2180-92-9 2474
6
Acetaminophen Approved Phase 4 103-90-2 1983
7 Autonomic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
8 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
9 Adrenergic Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
10 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
11 Neurotransmitter Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
12 Adrenergic Agents Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
13 Hormone Antagonists Phase 4,Phase 3,Phase 1,Not Applicable
14 Hormones Phase 4,Phase 3,Phase 1,Not Applicable
15 Gastrointestinal Agents Phase 4,Phase 2,Phase 1,Not Applicable
16 Anti-Inflammatory Agents Phase 4,Phase 1,Not Applicable
17 BB 1101 Phase 4,Phase 1
18 HIV Protease Inhibitors Phase 4,Phase 1
19 glucocorticoids Phase 4,Phase 1,Not Applicable
20 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4,Phase 3,Phase 1,Not Applicable
21 Antiemetics Phase 4,Phase 2,Phase 1,Not Applicable
22
protease inhibitors Phase 4,Phase 1
23 Antineoplastic Agents, Hormonal Phase 4,Phase 1,Not Applicable
24 Anesthetics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
25 Analgesics Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
26 Anesthetics, Local Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
27 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
28 Analgesics, Non-Narcotic Phase 4,Phase 3,Phase 1,Not Applicable
29 Hypnotics and Sedatives Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable
30 Central Nervous System Depressants Phase 4,Phase 2,Phase 3,Phase 1,Not Applicable
31 Antipyretics Phase 4
32
leucovorin Approved Phase 3,Not Applicable 58-05-9 143 6006
33
Racepinephrine Approved Phase 2, Phase 3,Not Applicable 329-65-7 838
34
Epinephrine Approved, Vet_approved Phase 2, Phase 3,Not Applicable 51-43-4 5816
35
Atropine Approved, Vet_approved Phase 2, Phase 3 5908-99-6, 51-55-8 174174
36
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3,Phase 3,Not Applicable 437-38-7 3345
37
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
38
Atracurium Approved, Experimental, Investigational Phase 2, Phase 3,Not Applicable 64228-79-1 47319
39
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
40
Nitrous oxide Approved, Vet_approved Phase 2, Phase 3,Not Applicable 10024-97-2 948
41
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
42
Polyestradiol phosphate Approved Phase 3 28014-46-2
43
Testosterone Approved, Experimental, Investigational Phase 3 58-22-0, 481-30-1 10204 6013
44
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
45
Midazolam Approved, Illicit Phase 3,Not Applicable 59467-70-8 4192
46 Sugarcane Approved Phase 3
47
Progesterone Approved, Vet_approved Phase 3 57-83-0 5994
48
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Not Applicable 59-30-3 6037
49 Vitamins Phase 3,Not Applicable
50 Vitamin B Complex Phase 3,Not Applicable

Interventional clinical trials:

(show top 50) (show all 68)
# Name Status NCT ID Phase Drugs
1 Effect of Intravenous Dexamethasone With Pudendal Nerve Block on Postoperative Pain in Pediatric Hypospadias Repair Completed NCT03902249 Phase 4 Dexamethasone
2 Pudendal Block Versus Caudal Block for Hypospadias Completed NCT02390388 Phase 4
3 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Completed NCT02848157 Phase 4 Dexmedetomidine;plain ropivacaine;Ropivacaine
4 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
5 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
6 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3 folic acid;folic acid
7 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
8 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications Completed NCT01370798 Phase 3 promestriene;Placebo
9 Dexmedetomidine Infusion in Hypospadias Surgery Completed NCT00926705 Phase 3 Dexmedetomidine and Fentanyl;Fentanyl
10 2-octyl Cyanoacrylate for Closure of Urethrocutaneous Fistula. Completed NCT02115191 Phase 3
11 Study Comparing the Polyurethane Films and Sugarcane Biopolymer Used as Dressings Completed NCT02531828 Phase 3
12 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
13 Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
14 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
15 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
16 Short-term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
17 Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
18 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
19 Smith-Lemli-Opitz Syndrome and Cholic Acid Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
20 Caudal Combination of Dexamethasone and/or Dexmedetomidine to Bupivacaine in Pediatric Hypospadias Surgery Completed NCT03261921 Phase 1 Dexamethasone;Dexmedetomidine;Bupivacaine
21 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090 Not Applicable
22 Foreskin Graft Tubularized Incised Plate Urethroplasty vs Tubularized Incised Plate for Primary Hypospadias (FGTIP-TIP) Unknown status NCT02497963 Not Applicable
23 Comparison of Pudendal Nerve Block and Caudal Block for Hypospadias in Young Children Unknown status NCT03145415 Not Applicable
24 The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group Unknown status NCT01762007
25 Hemostasis During Hypospadias Surgery Unknown status NCT02268019 Not Applicable epinephrine injection
26 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745 Not Applicable Simvastatin
27 Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
28 Antibiotic Use in Distal Hypospadias Repair Completed NCT03275519 Not Applicable
29 Long Term Outcome of Hypospadias Repair Completed NCT02103712
30 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682
31 Antibiotic Use Following Distal and Mid-shaft Hypospadias Repair Completed NCT02593903 Not Applicable Septra
32 Ultrasound Guided Penile Block vs Pudendal Block for Hypospadias Completed NCT03496740 Not Applicable Bupivacaine (Block Drug)
33 The Effect of Anesthetics on Oxidative Stress and Apoptosis Status in Children Completed NCT02711280 Not Applicable Sevoflurane;Propofol
34 DPNB vs. Modified DPNB With Ventromedial Infiltration (DPNB According to Dalens' Technique) Completed NCT01974011 Not Applicable
35 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
36 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389 Not Applicable
37 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205 Not Applicable
38 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
39 "iRestore" Light Therapy Apparatus Completed NCT03331003 Not Applicable
40 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Completed NCT03575377 Not Applicable
41 Boston Children's Hospital Post Anesthesia Care Unit Outcomes Study Completed NCT02189642
42 Prenatal Screening For Smith-Lemli-Opitz Syndrome Completed NCT00070850
43 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
44 Effect of Steroids on Post-Operative Complications Following Proximal Hypospadias Repair Recruiting NCT02162810 Not Applicable Prednisolone;placebo-controlled
45 Effect of Caudal and Penile Block on Hypospadias Repair Complications Recruiting NCT02851290 Not Applicable
46 Caudal vs Local Anesthesia in Hypospadias Recruiting NCT02512887 Not Applicable Caudal Block Anesthesia;Dorsal Penile Block Anesthesia
47 Genetics of Disorders of Sex Development and Hypospadias Recruiting NCT03102554 Not Applicable
48 Incidence of Urethrocutaneous Fistula With and Without Caudal Epidural Block Recruiting NCT03812731 Not Applicable Ropivacaine;Fentanyl Citrate
49 Molecular and Structural Comparison of Hypospadic and Normal Children Prepuces Recruiting NCT03838458
50 Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis Recruiting NCT03295175

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 30

Anatomical Context for Hypospadias

MalaCards organs/tissues related to Hypospadias:

42
Skin, Prostate, Testes, Testis, Heart, Pituitary, Smooth Muscle

Publications for Hypospadias

Articles related to Hypospadias:

(show top 50) (show all 2835)
# Title Authors Year
1
Re: Echocardiographic Evaluation of Left Ventricular Mass Index in Children with Hypospadias after Hormonal Stimulation with Topical Testosterone: . ( 30653008 )
2019
2
Re: The Role of Preoperative Intra Muscular Testosterone in Improving Functional and Cosmetic Outcomes following Hypospadias Repair: . ( 30653009 )
2019
3
Re: The Association between Caudal Anesthesia and Increased Risk of Postoperative Surgical Complications in Boys Undergoing Hypospadias Repair. ( 30653010 )
2019
4
Re: The Staged Urethroplasty with Vascularised Scrotal Flap and Buccal Mucosa Graft after Failed Hypospadias Surgery: . ( 30653012 )
2019
5
Commentary to 'The use of postoperative prophylactic antibiotics in stented distal hypospadias repair: a systematic review and meta-analysis'. ( 30685111 )
2019
6
Hypospadias risk is increased with maternal residential exposure to hormonally active hazardous air pollutants. ( 30694020 )
2019
7
Analgesic efficacy and impact of caudal block on surgical complications of hypospadias repair: a systematic review and meta-analysis. ( 30700621 )
2019
8
Editorial Comment to Autologous platelet-rich plasma covering urethroplasty versus dartos flap in distal hypospadias repair: A prospective randomized study. ( 30719753 )
2019
9
Autologous platelet-rich plasma covering urethroplasty versus dartos flap in distal hypospadias repair: A prospective randomized study. ( 30719774 )
2019
10
Use of a Stent in Distal Hypospadias Repaired by Tubularized Incised Plate Urethroplasty: A Comparative Study. ( 30731455 )
2019
11
No difference in cognitive performance or gender role behavior between men with and without hypospadias. ( 30742831 )
2019
12
Comparative study of urethroplasties to reduce urethral strictures in patients with severe hypospadias. ( 30747026 )
2019
13
Hyperbaric Oxygen Therapy Improves Oral Graft Take In Hypospadias Stag Reoperations. ( 30747872 )
2019
14
Re: Parental Subfertility and Hypospadias and Cryptorchidism in Boys: Results from Two Danish Birth Cohorts. ( 30747890 )
2019
15
Re: Early vs. Late-Presenting Urethroplasty Complications after Hypospadias Repair: Early vs. ( 30759651 )
2019
16
Re: Emerging Role of Preputial Vascular Pattern and Postoperative Microvessel Density in Cases of Proximal Hypospadias: . ( 30759652 )
2019
17
Surgical management of hypospadias in cases with concomitant disorders of sex development. ( 30762107 )
2019
18
Association between SRD5A2 polymorphism and hypospadias: a meta-analysis. ( 30782264 )
2019
19
2-octyl cyanoacrylate hypospadias repair dressing: a retrospective, controlled comparison. ( 30797251 )
2019
20
Fixation of the glans penis and urethral catheter to the abdominal skin to avoid wound dehiscence after a hypospadias surgery: A comparative study. ( 30817275 )
2019
21
Risk factors affecting post-pubertal high serum follicle-stimulating hormone in patients with hypospadias. ( 30820650 )
2019
22
Staged repair of redo and crippled hypospadias: analysis of outcomes and complications. ( 30833176 )
2019
23
Hypospadias as a New Entity to Define the Branchio-Oto-Renal Spectrum Disorders. ( 30834787 )
2019
24
Level of agreement on postoperative complications after one-stage hypospadias correction comparing medical records and parent reports. ( 30850151 )
2019
25
Interaction between CYP1A1/CYP17A1 polymorphisms and parental risk factors in the risk of hypospadias in a Chinese population. ( 30858503 )
2019
26
Hypospadias Risk from Maternal Residential Exposure to Heavy Metal Hazardous Air Pollutants. ( 30875870 )
2019
27
Complications of proximal hypospadias repair with transverse preputial island flap urethroplasty: a 15-year experience with long-term follow-up. ( 30880687 )
2019
28
Unusual finding in the karyotype of a neonate with glandular hypospadias with chordee. ( 30898940 )
2019
29
Association Between Extra-Genital Congenital Anomalies and Hypospadias Outcome. ( 30913557 )
2019
30
Cardiac disorders and structural brain abnormalities are commonly associated with hypospadias in children with neurodevelopmental disorders. ( 30921090 )
2019
31
Midline Incision of a Graft in Staged Hypospadias Repair-Feasible and Durable? ( 30931285 )
2019
32
Re: Testosterone prior to Hypospadias Repair: Postoperative Complication Rates and Long-Term Cosmetic Results, Penile Length and Body Height. ( 30932754 )
2019
33
Risk Factors for hypospadias in Northwest Russia: A Murmansk County Birth Registry Study. ( 30946760 )
2019
34
Timing of pubertal development in boys born with cryptorchidism and hypospadias: a nationwide cohort study. ( 30950413 )
2019
35
Functional Characterization of Two New Variants in the Bone Morphogenetic Protein 7 Prodomain in Two Pairs of Monozygotic Twins With Hypospadias. ( 30963139 )
2019
36
Commentary on "Hypospadias in offspring is associated with chronic exposure of parents to organophosphate and organochlorine pesticides". ( 30978437 )
2019
37
A rare case report: Penile lipoma after hypospadias repair. ( 30983030 )
2019
38
Reverse pedicle flap as a barrier layer for circumcised patients with megameatus hypospadias. ( 31010640 )
2019
39
Editorial: Surgical Management Options in Proximal Hypospadias. ( 31032238 )
2019
40
Characterization and outcomes of urethroplasty for hypospadias-associated urethral strictures in adults. ( 31039108 )
2019
41
The effect of intraurethral dexpanthenol in hypospadias repair: experimental rabbit study. ( 31040076 )
2019
42
A retrospective population-based cohort study to evaluate the impact of an older sibling with undescended testis and hypospadias on the known maternal and fetal risk factors for undescended testis and hypospadias in Ontario, Canada, 1997-2007. ( 30459092 )
2019
43
Association of Prenatal Exposures of Polybrominated Diphenyl Ethers With Hypospadias-Reply. ( 30452509 )
2019
44
Association of Prenatal Exposures of Polybrominated Diphenyl Ethers With Hypospadias. ( 30452505 )
2019
45
Association of Prenatal Exposures of Polybrominated Diphenyl Ethers With Hypospadias. ( 30452503 )
2019
46
An evaluation of the readability, quality, and accuracy of online health information regarding the treatment of hypospadias. ( 30449679 )
2019
47
Isoflavone Intake in Early Pregnancy and Hypospadias in the Japan Environment and Children's Study. ( 30447265 )
2019
48
Maternal hypertension and hypospadias in offspring: A systematic review and meta-analysis. ( 30411533 )
2019
49
Urethral pull-up operation for distal and mid-penile hypospadias: a new safe method. ( 30394855 )
2019
50
Buccal mucosa graft for simultaneous correction of severe chordee and urethroplasty as a one-stage repair of scrotal hypospadias (watch technique). ( 30306261 )
2019

Variations for Hypospadias

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 8.32 SRD5A1

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

(show top 50) (show all 64)
# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.92 AR FGF10 FGFR2 INSL3 SRD5A2
2 steroid metabolic process GO:0008202 9.9 CYP17A1 SRD5A1 SRD5A2
3 lung development GO:0030324 9.89 FGF10 FGF8 FGFR2
4 fibroblast growth factor receptor signaling pathway GO:0008543 9.87 FGF10 FGF8 FGFR2
5 epithelial cell differentiation GO:0030855 9.87 FGF10 FGFR2 WT1
6 inner ear morphogenesis GO:0042472 9.85 FGF10 FGF8 FGFR2
7 steroid biosynthetic process GO:0006694 9.8 CYP17A1 HSD17B3 SRD5A1 SRD5A2
8 positive regulation of Wnt signaling pathway GO:0030177 9.77 FGF10 FGFR2 ZEB2
9 response to organic cyclic compound GO:0014070 9.77 FGF10 FGF8 SRD5A1
10 embryonic pattern specification GO:0009880 9.73 FGF10 FGFR2
11 lung morphogenesis GO:0060425 9.73 FGF10 FGF8
12 embryonic digestive tract morphogenesis GO:0048557 9.73 FGF10 FGFR2
13 male gonad development GO:0008584 9.73 AR MAMLD1 NR5A1 SRD5A1 SRD5A2 WT1
14 androgen metabolic process GO:0008209 9.72 SRD5A1 SRD5A2
15 prostate gland development GO:0030850 9.72 AR HOXD13
16 gonad development GO:0008406 9.72 FGF8 WT1
17 male sex determination GO:0030238 9.71 NR5A1 SRY
18 mesonephros development GO:0001823 9.71 FGF10 FGF8
19 cell proliferation in forebrain GO:0021846 9.71 FGF8 ZEB2
20 organ growth GO:0035265 9.71 FGF10 FGFR2
21 limb bud formation GO:0060174 9.7 FGF10 FGFR2
22 organ induction GO:0001759 9.7 FGF10 FGF8
23 protein localization to microtubule GO:0035372 9.7 MID1 MID2
24 cellular response to testosterone stimulus GO:0071394 9.69 AR SRD5A1
25 limb morphogenesis GO:0035108 9.69 FGF10 FGF8 HOXD13
26 gland morphogenesis GO:0022612 9.68 FGFR2 HOXD13
27 progesterone metabolic process GO:0042448 9.68 CYP17A1 SRD5A1
28 hippocampus development GO:0021766 9.68 SRD5A1 ZEB2
29 reproductive structure development GO:0048608 9.68 AR FGFR2
30 bud elongation involved in lung branching GO:0060449 9.67 FGF10 FGFR2
31 lacrimal gland development GO:0032808 9.66 FGF10 FGFR2
32 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.66 FGFR2 HOXD13
33 animal organ formation GO:0048645 9.65 AR FGF10
34 epidermis morphogenesis GO:0048730 9.65 FGF10 FGFR2
35 branching involved in salivary gland morphogenesis GO:0060445 9.65 FGF10 FGF8 FGFR2
36 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.64 FGFR2 HOXD13
37 testosterone biosynthetic process GO:0061370 9.63 HSD17B3 SRD5A2
38 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.63 FGF10 FGFR2
39 bone development GO:0060348 9.63 FGF8 FGFR2 SRD5A1
40 transcription by RNA polymerase II GO:0006366 9.62 HOXD13 NR5A1
41 male genitalia morphogenesis GO:0048808 9.61 AR FGF10
42 morphogenesis of an epithelial fold GO:0060571 9.61 AR HOXD13
43 response to testosterone GO:0033574 9.58 HOXD13 SRD5A1
44 negative regulation of female gonad development GO:2000195 9.58 NR5A1 WT1
45 positive regulation of male gonad development GO:2000020 9.58 NR5A1 SRY WT1
46 branch elongation involved in salivary gland morphogenesis GO:0060667 9.57 FGF10 FGFR2
47 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.56 FGF10 FGFR2
48 mammary gland bud formation GO:0060615 9.55 FGF10 FGFR2
49 mesenchymal cell differentiation involved in lung development GO:0060915 9.54 FGF10 FGFR2
50 sex determination GO:0007530 9.54 NR5A1 SRD5A1 WT1

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 9.92 AR ATF3 HOXA13 HOXD13 NR5A1 SRY
2 DNA-binding transcription factor activity GO:0003700 9.85 AR ATF3 HOXD13 NR5A1 SRY WT1
3 sequence-specific DNA binding GO:0043565 9.73 AR HOXA13 HOXD13 NR5A1 WT1 ZEB2
4 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.16 SRD5A1 SRD5A2
5 amide binding GO:0033218 8.65 SRD5A1
6 cholestenone 5-alpha-reductase activity GO:0047751 8.62 SRD5A1 SRD5A2

Sources for Hypospadias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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