MCID: HYP040
MIFTS: 57

Hypospadias malady

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

Aliases & Classifications for Hypospadias

Aliases & Descriptions for Hypospadias:

Name: Hypospadias 12 29 52 42 14
Familial Hypospadias 12 56
Hypospadias Familial 50

Characteristics:

Orphanet epidemiological data:

56
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 33 Q54 Q54.9
MeSH 42 D007021
NCIt 47 C40341
SNOMED-CT 64 416010008
Orphanet 56 ORPHA440
ICD10 via Orphanet 34 Q54.0 Q54.1 Q54.2 more
UMLS 69 C0848558

Summaries for Hypospadias

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

MalaCards based summary : Hypospadias, also known as familial hypospadias, is related to hypospadias 1, x-linked and pseudovaginal perineoscrotal hypospadias. 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 Androstenedione and testosterone biosynthesis and metabolism p.1. The drugs Bupivacaine and Ropivacaine have been mentioned in the context of this disorder. Affiliated tissues include skin, testis and testes, and related phenotypes are endocrine/exocrine gland and embryo

Wikipedia : 71 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 160)
id Related Disease Score Top Affiliating Genes
1 hypospadias 1, x-linked 33.4 AR NR5A1 SRD5A2 SRY
2 pseudovaginal perineoscrotal hypospadias 12.2
3 hypospadias 2, x-linked 12.0
4 posterior hypospadias 12.0
5 hypospadias-mental retardation syndrome 11.9
6 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 11.9
7 hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss 11.8
8 hypospadias mental retardation goldblatt type 11.8
9 hypospadias 4, x-linked 11.7
10 spina bifida hypospadias 11.7
11 hypotelorism cleft palate hypospadias 11.7
12 hypospadias 3, autosomal 11.7
13 radial hypoplasia, triphalangeal thumbs and hypospadias 11.7
14 tracheophageal fistula hypospadias 11.6
15 deafness hypospadias metacarpal and metatarsal syndrome 11.6
16 myopathy growth and mental retardation hypospadias 11.6
17 myopathy-growth delay-intellectual disability-hypospadias syndrome 11.6
18 anal atresia, hypospadias, and penoscrotal inversion 11.6
19 tracheo-esophageal fistula-hypospadias syndrome 11.6
20 lower limb deficiency-hypospadias syndrome 11.6
21 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 11.6
22 opitz-gbbb syndrome 11.6
23 5-alpha reductase deficiency 11.6
24 opitz gbbb syndrome, type ii 11.6
25 guttmacher syndrome 11.5
26 opitz gbbb syndrome, type i 11.5
27 schmitt gillenwater kelly syndrome 11.4
28 androgen insensitivity 11.0
29 mowat-wilson syndrome 11.0
30 wagr syndrome 11.0
31 46,xx testicular disorder of sex development 10.8
32 leydig cell hypoplasia with pseudohermaphroditism 10.8
33 androgen insensitivity, partial, with or without breast cancer 10.8
34 steroid 5-alpha-reductase deficiency 10.8
35 acrofrontofacionasal dysostosis 2 10.8
36 abruzzo-erickson syndrome 10.7
37 hand-foot-uterus syndrome 10.7
38 goldberg-shprintzen megacolon syndrome 10.7
39 proud syndrome 10.7
40 leydig cell hypoplasia 10.7
41 testicular anomalies with or without congenital heart disease 10.7
42 chromosome 19q13.11 deletion syndrome 10.7
43 46, xy disorders of sexual development 10.7
44 say carpenter syndrome 10.7
45 pfeiffer kapferer syndrome 10.7
46 urethritis 10.5
47 cryptorchidism 10.4
48 intraventricular meningioma 10.3 AR SRD5A2 SRY
49 borderline personality disorder 10.3 AR CYP17A1 SRD5A2
50 leukoencephalopathy with ataxia 10.3 AR SRD5A1 SRD5A2

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to Hypospadias

Symptoms & Phenotypes for Hypospadias

Human phenotypes related to Hypospadias:

56 32
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypospadias 56 32 Very frequent (99-80%) HP:0000047

MGI Mouse Phenotypes related to Hypospadias:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.14 AR ATF3 FGF10 FGF8 FGFR2 HOXA13
2 embryo MP:0005380 10.13 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
3 growth/size/body region MP:0005378 10.11 FGF10 FGF8 FGFR2 HOXA13 HOXD13 MID1
4 limbs/digits/tail MP:0005371 9.87 FGFR2 HOXA13 HOXD13 AR CYP17A1 FGF10
5 muscle MP:0005369 9.8 AR FGF10 FGF8 FGFR2 HOXD13 MID1
6 reproductive system MP:0005389 9.73 SRD5A1 SRD5A2 WT1 ZEB2 AR CYP17A1
7 renal/urinary system MP:0005367 9.7 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
8 skeleton MP:0005390 9.28 AR ATF3 CYP17A1 FGF10 FGF8 FGFR2

Drugs & Therapeutics for Hypospadias

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

(show top 50) (show all 127)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bupivacaine Approved, Investigational Phase 4,Phase 2,Phase 3 2180-92-9, 38396-39-3 2474
2
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
3
Dexmedetomidine Approved, Vet_approved Phase 4,Phase 3 76631-46-4, 113775-47-6 68602 5311068 56032
4 Peripheral Nervous System Agents Phase 4,Phase 2,Phase 3
5 Adrenergic Agents Phase 4,Phase 2,Phase 3
6 Adrenergic Agonists Phase 4,Phase 2,Phase 3
7 Adrenergic alpha-Agonists Phase 4,Phase 2,Phase 3
8 Neurotransmitter Agents Phase 4,Phase 2,Phase 3
9 Anesthetics Phase 4,Phase 2,Phase 3
10 Anesthetics, Local Phase 4,Phase 2,Phase 3
11 Central Nervous System Depressants Phase 4,Phase 2,Phase 3
12 Adrenergic alpha-2 Receptor Agonists Phase 4,Phase 3,Phase 2
13 Analgesics Phase 4,Phase 2,Phase 3
14 Analgesics, Non-Narcotic Phase 4,Phase 3
15 Hypnotics and Sedatives Phase 4,Phase 3,Phase 2
16
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
17
Atropine Approved, Vet_approved Phase 2, Phase 3 5908-99-6, 51-55-8 174174
18
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 437-38-7 3345
19
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
20
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
21
Nitrous oxide Approved, Vet_approved Phase 2, Phase 3 10024-97-2 948
22
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
23
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
24
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757 53477783
25
Methyltestosterone Approved Phase 3 58-18-4 6010
26
Testosterone Approved, Investigational Phase 3 58-22-0 6013
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 54575, 6560146 143
30 Hematinics Phase 3
31 Micronutrients Phase 3
32 Trace Elements Phase 3
33 Vitamin B Complex Phase 3
34 Vitamins Phase 3
35 Adrenergic beta-Agonists Phase 2, Phase 3
36 Anti-Asthmatic Agents Phase 2, Phase 3
37 Autonomic Agents Phase 2, Phase 3
38 Bronchodilator Agents Phase 2, Phase 3
39 Epinephryl borate Phase 2, Phase 3
40 Mydriatics Phase 2, Phase 3
41 Racepinephrine 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
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 all 45)
id Name Status NCT ID Phase
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
3 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Not yet recruiting NCT02848157 Phase 4
4 Folic Acid Dosage and Malformations Reduction Unknown status NCT01244347 Phase 3
5 Effectiveness of Caudal Epidural Block on Intraoperative Blood Loss During Hypospadias Repair Completed NCT02752308 Phase 2, Phase 3
6 Dexmedetomidine Infusion in Hypospadias Surgery Completed NCT00926705 Phase 3
7 2-octyl Cyanoacrylate for Closure of Urethrocutaneous Fistula. Completed NCT02115191 Phase 3
8 Study Comparing the Polyurethane Films and Sugarcane Biopolymer Used as Dressings Completed NCT02531828 Phase 3
9 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications Active, not recruiting NCT01370798 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) Active, not recruiting NCT02491437 Phase 3
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
13 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2
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
17 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090
18 The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group Unknown status NCT01762007
19 Hemostasis During Hypospadias Surgery Unknown status NCT02268019
20 SLOS: The Effect of Simvastatin in Patients Receiving Cholesterol Supplementation Unknown status NCT01434745
21 Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome Unknown status NCT01356420
22 Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
23 Long Term Outcome of Hypospadias Repair Completed NCT02103712
24 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682
25 The Effect of Anesthetics on Oxidative Stress and Apoptosis Status in Children Completed NCT02711280
26 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
27 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
28 Child's Adipose Cells: Capacity of Tissue Regeneration Completed NCT02779205
29 Boston Children's Hospital Post Anesthesia Care Unit Outcomes Study Completed NCT02189642
30 Estimation of the Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
31 Effect of Steroids on Post-Operative Complications Following Proximal Hypospadias Repair Recruiting NCT02162810
32 Effect of Caudal and Penile Block on Hypospadias Repair Complications Recruiting NCT02851290
33 Prophylactic Antibiotics or Placebo After Hypospadias Repair Recruiting NCT02096159
34 Caudal vs Local Anesthesia in Hypospadias Recruiting NCT02512887
35 Antibiotic Use Following Distal and Mid-shaft Hypospadias Repair Recruiting NCT02593903
36 DPNB vs. Modified DPNB With Ventromedial Infiltration (DPNB According to Dalens' Technique) Recruiting NCT01974011
37 Pregnancy Environment and Newborn Malformations Recruiting NCT01613638
38 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278
39 Study of Smith-Lemli-Opitz Syndrome Recruiting NCT00001721
40 Decision Support for Parents Receiving Information About Child's Rare Disease Active, not recruiting NCT01875640
41 Foreskin Graft Tubularized Incised Plate Urethroplasty vs Tubularized Incised Plate for Primary Hypospadias (FGTIP-TIP) Not yet recruiting NCT02497963
42 Comparison of Pudendal Nerve Block and Caudal Block for Hypospadias in Young Children Not yet recruiting NCT03145415
43 Genetics of Disorders of Sex Development and Hypospadias Not yet recruiting NCT03102554
44 Intelligence Changes Following Minor Surgery Withdrawn NCT01483313
45 A Long-Term Study of Cholesterol Supplements for Smith-Lemli-Opitz Syndrome Withdrawn NCT01413425

Search NIH Clinical Center for Hypospadias

Cochrane evidence based reviews: hypospadias

Genetic Tests for Hypospadias

Genetic tests related to Hypospadias:

id Genetic test Affiliating Genes
1 Hypospadias 29

Anatomical Context for Hypospadias

MalaCards organs/tissues related to Hypospadias:

39
Skin, Testis, Testes, Breast, Placenta, Pituitary, Small Intestine

Publications for Hypospadias

Articles related to Hypospadias:

(show top 50) (show all 857)
id Title Authors Year
1
Commentary to 'Current challenges with proximal hypospadias: We have a long way to go'. ( 28479205 )
2017
2
Hypospadias surgery in England: Higher volume centres have lower complication rates. ( 28434634 )
2017
3
Role of tubularization of urethral plate in development of urethrocutaneous fistula post hypospadias repair. ( 28479764 )
2017
4
Staged Tubularized Autograft Repair for Primary Proximal Hypospadias with 30-Degree or Greater Ventral Curvature. ( 28400187 )
2017
5
Re: The Effect of Parenteral Testosterone Administration prior to Hypospadias Surgery: A Prospective, Randomized and Controlled Study. ( 27979564 )
2017
6
Single penile incision for combined hypospadias and inguinal surgery: A comparative study. ( 28503233 )
2017
7
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
8
Ultrasound diagnosis of fetal hypospadias: Accuracy and outcomes. ( 28389178 )
2017
9
Outcome after Hypospadias Repair: Evaluation Using the Hypospadias Objective Penile Evaluation Score. ( 28505692 )
2017
10
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
11
Response to Letter to the Editor re 'Comparison of variables affecting the surgical outcome of tubularized and tubularized incised plate urethroplasty in adult and pediatric hypospadias'. ( 28434638 )
2017
12
What Is Hypospadias? ( 28081624 )
2017
13
History of hypospadias: Lost in translation. ( 27989535 )
2017
14
Analysis of preoperative antibiotic prophylaxis in stented, distal hypospadias repair. ( 28436366 )
2017
15
Pediatric Penile and Glans Anthropometry Nomograms: An Aid in Hypospadias Management. ( 28082769 )
2017
16
Maternal Stressors and Social Support and Risks of Delivering Babies With Gastroschisis or Hypospadias. ( 28505275 )
2017
17
Hypospadias Repair. ( 28010977 )
2017
18
Psychosocial outcomes in adult men born with hypospadias: A register-based study. ( 28384289 )
2017
19
A population-based study of prevalence trends and geospatial analysis of hypospadias and cryptorchidism compared with non-endocrine mediated congenital anomalies. ( 28351651 )
2017
20
Echocardiographic evaluation of left ventricular mass index in children with hypospadias after hormonal stimulation with topical testosterone: A randomized controlled trial. ( 28434633 )
2017
21
A One Stage Hypospadias Repair. ( 28012753 )
2017
22
Use of Hormones, Tissue Factors and Bioengineering in the Management of Hypospadias. ( 28429283 )
2017
23
One-stage repair of proximal hypospadias with severe chordee by in situ tubularization of the transverse preputial island flap. ( 28359778 )
2017
24
Use of Bipedicled Dorsal Penile Flap with Z Release Incision: a New Option in Redo Hypospadias Surgery. ( 28495506 )
2017
25
Impact of smartphone digital photography, email, and media communication on emergency room visits post-hypospadias repair. ( 28515816 )
2017
26
Late surgical correction of hypospadias increases the risk of complications: a 501 consecutive patients series. ( 28083998 )
2017
27
In pursuit of the perfect penis: Hypospadias repair outcomes. ( 28351650 )
2017
28
Can a graft be placed over a flap in complex hypospadias surgery? An experimental study in rabbits. ( 27649106 )
2016
29
Fertility Potential in Adult Hypospadias. ( 27656497 )
2016
30
Interaction between MTHFR 677C>T and periconceptional folic acid supplementation in the risk of Hypospadias. ( 26879531 )
2016
31
Mouse hypospadias: A critical examination and definition. ( 27068029 )
2016
32
Response to commentary to 'Results of distal hypospadias repair after pediatric urology fellowship training: A comparison of junior surgeons to their mentor'. ( 27160978 )
2016
33
A New Modification of the Koyanagi Technique for the One-stage Repair of Severe Hypospadias. ( 27041473 )
2016
34
Female hypospadias presenting with urinary retention and renal failure in an adolescent: uncommon and late presentation with significant hidden morbidity. ( 27659910 )
2016
35
Psychosocial outcome in adult men born with hypospadias. ( 28087231 )
2016
36
A Case of Bifid Phallus and Bladder Neck Incompetence: Is This a Variant of Epispadias or Hypospadias? ( 26610674 )
2016
37
Urethroplasty Using Diverticular Tissue for Hypospadias. ( 27619786 )
2016
38
Bisphenol A and other phenols in human placenta from children with cryptorchidism or hypospadias. ( 26602963 )
2016
39
Re: Meta-Analysis of Androgen Insensitivity in Preoperative Hormone Therapy in Hypospadias. ( 26699970 )
2016
40
Preoperative Testosterone Therapy Prior to Surgical Correction of Hypospadias: A Review of the Literature. ( 27551655 )
2016
41
Assessing quality of life of patients with hypospadias: A systematic review of validated patient-reported outcome instruments. ( 28089292 )
2016
42
Hypospadias and maternal exposure to atrazine via drinking water in the National Birth Defects Prevention study. ( 27422386 )
2016
43
Impact of changing trends in technique and learning curve on outcome of hypospadias repair: An experience from tertiary care center. ( 27555680 )
2016
44
Results of a Two-stage Technique for Treatment of Proximal Hypospadias with Severe Curvature: Creation of a Urethral Plate Using a Vascularized Preputial Island Flap. ( 27085564 )
2016
45
Advantages with Reduced Prophylaxis After Tubularized Incised Plate Repair of hypospadias. ( 27157368 )
2016
46
Primary hypospadias repair techniques: A review of the evidence. ( 28057982 )
2016
47
Maternal Exposure to Domestic Hair Cosmetics and Occupational Endocrine Disruptors Is Associated with a Higher Risk of Hypospadias in the Offspring. ( 28036072 )
2016
48
Idiopathic female pseudohermaphroditism with urethral duplication and female hypospadias. ( 26965407 )
2016
49
Multivariate Analysis of the Factors Associated With Sexual Intercourse, Marriage, and Paternity of Hypospadias Patients. ( 27545860 )
2016
50
A novel technique for repair of mid-penile hypospadias using a preputial skin flap: results of 110 patients. ( 27623810 )
2016

Variations for Hypospadias

ClinVar genetic disease variations for Hypospadias:

6
id 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)
id 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:

id 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 67)
id Name GO ID Score Top Affiliating Genes
1 steroid metabolic process GO:0008202 9.91 CYP17A1 SRD5A1 SRD5A2
2 phosphatidylinositol-mediated signaling GO:0048015 9.91 FGF10 FGF8 FGFR2
3 phosphatidylinositol phosphorylation GO:0046854 9.9 FGF10 FGF8 FGFR2
4 lung development GO:0030324 9.9 FGF10 FGF8 FGFR2
5 response to organic cyclic compound GO:0014070 9.9 FGF10 FGF8 SRD5A1 SRD5A2
6 positive regulation of MAPK cascade GO:0043410 9.89 AR FGF10 FGFR2
7 fibroblast growth factor receptor signaling pathway GO:0008543 9.88 FGF10 FGF8 FGFR2
8 regulation of phosphatidylinositol 3-kinase signaling GO:0014066 9.88 FGF10 FGF8 FGFR2
9 epithelial cell differentiation GO:0030855 9.87 FGF10 FGFR2 WT1
10 hippocampus development GO:0021766 9.86 SRD5A1 SRD5A2 ZEB2
11 inner ear morphogenesis GO:0042472 9.86 FGF10 FGF8 FGFR2
12 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.81 FGF10 FGF8 FGFR2
13 positive regulation of Wnt signaling pathway GO:0030177 9.8 FGF10 FGFR2 ZEB2
14 bone development GO:0060348 9.78 FGF8 FGFR2 SRD5A1 SRD5A2
15 response to testosterone GO:0033574 9.76 HOXD13 SRD5A1 SRD5A2
16 embryonic digestive tract morphogenesis GO:0048557 9.74 FGF10 FGFR2
17 adrenal gland development GO:0030325 9.74 NR5A1 WT1
18 tissue development GO:0009888 9.73 NR5A1 WT1
19 androgen metabolic process GO:0008209 9.73 SRD5A1 SRD5A2
20 male gonad development GO:0008584 9.73 AR MAMLD1 NR5A1 SRD5A1 SRD5A2 WT1
21 hypothalamus development GO:0021854 9.72 SRD5A1 SRD5A2
22 cell proliferation in forebrain GO:0021846 9.72 FGF8 ZEB2
23 gonad development GO:0008406 9.72 FGF8 WT1
24 steroid biosynthetic process GO:0006694 9.72 CYP17A1 HSD17B3 HSD3B2 SRD5A1 SRD5A2
25 mesonephros development GO:0001823 9.71 FGF10 FGF8
26 organ growth GO:0035265 9.71 FGF10 FGFR2
27 organ induction GO:0001759 9.7 FGF10 FGF8
28 limb bud formation GO:0060174 9.7 FGF10 FGFR2
29 limb morphogenesis GO:0035108 9.7 FGF10 FGF8 HOXD13
30 cellular response to testosterone stimulus GO:0071394 9.69 AR SRD5A1
31 gland morphogenesis GO:0022612 9.69 FGFR2 HOXD13
32 reproductive structure development GO:0048608 9.68 AR FGFR2
33 glucocorticoid biosynthetic process GO:0006704 9.68 CYP17A1 HSD3B2
34 regulation of branching involved in prostate gland morphogenesis GO:0060687 9.67 FGFR2 HOXD13
35 lacrimal gland development GO:0032808 9.67 FGF10 FGFR2
36 epidermis morphogenesis GO:0048730 9.67 FGF10 FGFR2
37 branching involved in salivary gland morphogenesis GO:0060445 9.67 FGF10 FGF8 FGFR2
38 bud elongation involved in lung branching GO:0060449 9.66 FGF10 FGFR2
39 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.66 FGFR2 HOXD13
40 testosterone biosynthetic process GO:0061370 9.65 HSD17B3 SRD5A2
41 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.65 FGF10 FGFR2
42 animal organ formation GO:0048645 9.65 AR FGF10
43 female genitalia development GO:0030540 9.64 SRD5A1 SRD5A2
44 response to follicle-stimulating hormone GO:0032354 9.63 SRD5A1 SRD5A2
45 progesterone metabolic process GO:0042448 9.63 CYP17A1 SRD5A1 SRD5A2
46 morphogenesis of an epithelial fold GO:0060571 9.62 AR HOXD13
47 male genitalia morphogenesis GO:0048808 9.61 AR FGF10
48 sex determination GO:0007530 9.61 NR5A1 SRD5A1 WT1
49 negative regulation of female gonad development GO:2000195 9.58 NR5A1 WT1
50 positive regulation of male gonad development GO:2000020 9.58 NR5A1 SRY WT1

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

id Name GO ID Score Top Affiliating Genes
1 transcription factor activity, sequence-specific DNA binding GO:0003700 9.91 AR ATF3 HOXA4 HOXD13 NR5A1 SRY
2 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.58 FGF10 FGF8 FGFR2
3 1-phosphatidylinositol-3-kinase activity GO:0016303 9.5 FGF10 FGF8 FGFR2
4 amide binding GO:0033218 9.26 SRD5A1 SRD5A2
5 sequence-specific DNA binding GO:0043565 9.17 AR ATF3 HOXA13 HOXA4 HOXD13 NR5A1
6 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.16 SRD5A1 SRD5A2
7 cholestenone 5-alpha-reductase activity GO:0047751 8.96 SRD5A1 SRD5A2

Sources for Hypospadias

3 CDC
7 CNVD
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16 ExPASy
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38 LifeMap
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67 TGDB
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