Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect
Release Notes Disease Lists/Categories
About
About MalaCards Datasets Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
MCID: HYP040
MIFTS: 55

Hypospadias

Categories: Genetic diseases, Rare diseases, Reproductive diseases
Data Licensing
For inquiries, contact:
[email protected]
Genes Variations Tissues Related diseases Publications Drugs
Sources

Aliases & Classifications for Hypospadias

About this section

MalaCards integrated aliases for Hypospadias:

Name: Hypospadias 11 28 53 5 43 14 16 75 31 33
Hypospadias Familial 19 75
Familial Hypospadias 11

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:10892
MeSH 43 D007021
NCIt 49 C40341
SNOMED-CT 68 156968008
ICD10 31 Q54 Q54.9
UMLS 71 C0848558
Sources

Summaries for Hypospadias

About this section

GARD: 19 A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.

MalaCards based summary: Hypospadias, also known as hypospadias familial, is related to preaxial deficiency, postaxial polydactyly, and hypospadias and non-syndromic posterior hypospadias. An important gene associated with Hypospadias is SRD5A2 (Steroid 5 Alpha-Reductase 2), and among its related pathways/superpathways are Mesenchymal Stem Cells and Lineage-specific Markers and Metabolism of steroid hormones. The drugs Dexmedetomidine and Dexamethasone acetate have been mentioned in the context of this disorder. Affiliated tissues include skin, prostate and testis, and related phenotypes are growth/size/body region and homeostasis/metabolism

Disease Ontology: 11 A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.

Wikipedia: 75 Hypospadias is a common variation in fetal development of the penis in which the urethra does not open... more...
Sources

Related Diseases for Hypospadias

About this section

Diseases in the Hypospadias family:

Hypospadias 3, Autosomal

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

(show top 50) (show all 560)
# Related Disease Score Top Affiliating Genes
1 preaxial deficiency, postaxial polydactyly, and hypospadias 32.8 MAMLD1 HOXD13 HOXA13
2 non-syndromic posterior hypospadias 32.4 MAMLD1 AR
3 hand-foot-genital syndrome 31.9 HOXD13 HOXA13 FGF8
4 46,xx sex reversal 1 31.8 SRY SRD5A1 NR5A1
5 leydig cell hypoplasia 31.7 SRD5A2 NR5A1 INSL3 HSD17B3 CYP17A1
6 17-beta hydroxysteroid dehydrogenase iii deficiency 31.6 SRD5A2 NR5A1 HSD17B3 AR
7 androgen insensitivity, partial 31.4 SRD5A2 SRD5A1 NR5A1 MAMLD1 INSL3 HSD17B3
8 hypogonadotropic hypogonadism 31.2 SRD5A2 NR5A1 INSL3 HSD17B3 FGF8 CYP17A1
9 androgen insensitivity syndrome 31.1 SRY SRD5A2 SRD5A1 NR5A1 MAMLD1 INSL3
10 syndrome with 46,xy disorder of sex development 31.1 SRY NR5A1
11 penis agenesis 31.1 SRD5A2 SRD5A1 CYP17A1 AR
12 hypertelorism 31.0 SRY MID1 FGFR2
13 gonadal dysgenesis 30.8 WT1 SRY NR5A1
14 anus, imperforate 30.8 MID1 HOXD13 FGF8
15 turner syndrome 30.7 SRY HOXD13 AR
16 gynecomastia 30.6 SRY SRD5A2 SRD5A1 HSD17B3 AR
17 cryptorchidism, unilateral or bilateral 30.5 WT1 SRD5A2 SRD5A1 NR5A1 MAMLD1 INSL3
18 cleft lip 30.5 MID1 FGFR2 FGF8 FGF10
19 mixed gonadal dysgenesis 30.4 SRY SRD5A1 NR5A1 HSD17B3
20 inguinal hernia 30.4 WT1 SRD5A2 NR5A1 INSL3 HSD17B3 GATA4
21 gender incongruence 30.4 SRD5A2 CYP17A1 AR
22 renal hypodysplasia/aplasia 1 30.4 WT1 FGFR2 FGF8 FGF10
23 46,xx sex reversal 30.3 WT1 SRY SRD5A2 NR5A1 HSD17B3
24 denys-drash syndrome 30.1 WT1 SRD5A1 NR5A1
25 sexual health disorder 30.1 SRD5A2 AR
26 acne 30.1 SRD5A1 CYP17A1 AR
27 azoospermia 30.0 WT1 SRD5A2 NR5A1 INSL3 GATA4 AR
28 lipoid congenital adrenal hyperplasia 30.0 SRY SRD5A2 SRD5A1 NR5A1 INSL3 HSD17B3
29 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 30.0 NR5A1 HSD17B3 CYP17A1
30 46,xy sex reversal 3 30.0 NR5A1 GATA4
31 cloacal exstrophy 30.0 SRD5A2 NR5A1
32 premature menopause 30.0 WT1 SRD5A2 NR5A1 INSL3 CYP17A1 AR
33 46,xy sex reversal 2 30.0 WT1 NR5A1 CYP17A1
34 synostosis 30.0 HOXD13 FGFR2 FGF8
35 pseudohermaphroditism 30.0 WT1 SRY SRD5A2 SRD5A1 NR5A1 INSL3
36 complete androgen insensitivity syndrome 30.0 SRY SRD5A2 NR5A1 INSL3 HSD17B3 CYP17A1
37 oligospermia 29.9 SRD5A2 HOXD13 AR
38 muenke syndrome 29.9 FGFR2 FGF8 FGF10
39 persistent mullerian duct syndrome 29.7 WT1 SRD5A2 NR5A1 MAMLD1 INSL3 HSD17B3
40 chromosome 2q35 duplication syndrome 29.7 HOXD13 HOXA13 FGFR2 FGF8
41 craniosynostosis 29.7 FGFR2 FGF8 FGF10 CYP17A1
42 diaphragmatic hernia, congenital 29.6 WT1 GATA4 FGF10
43 kallmann syndrome 29.5 NR5A1 INSL3 FGFR2 FGF8
44 disorder of sexual development 29.5 WT1 SRY SRD5A2 SRD5A1 NR5A1 MAMLD1
45 46,xy sex reversal 29.0 WT1 SRY SRD5A2 NR5A1 MAMLD1 INSL3
46 opitz gbbb syndrome 11.7
47 pseudovaginal perineoscrotal hypospadias 11.7
48 hypospadias 1, x-linked 11.5
49 schilbach-rott syndrome 11.5
50 hypospadias 2, x-linked 11.4

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to Hypospadias
Sources

Symptoms & Phenotypes for Hypospadias

About this section

MGI Mouse Phenotypes related to Hypospadias:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 AR ATF3 CYP17A1 FGF10 FGF8 FGFR2
2 homeostasis/metabolism MP:0005376 10.28 AR ATF3 CYP17A1 DGKK FGF10 FGF8
3 nervous system MP:0003631 10.26 AR ATF3 FGF10 FGF8 FGFR2 GATA4
4 endocrine/exocrine gland MP:0005379 10.24 AR ATF3 FGF10 FGF8 FGFR2 GATA4
5 normal MP:0002873 10.15 AR FGF10 FGF8 FGFR2 GATA4 MID1
6 muscle MP:0005369 10.15 AR FGF10 FGF8 FGFR2 GATA4 HOXD13
7 renal/urinary system MP:0005367 10.11 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
8 reproductive system MP:0005389 10.09 AR CYP17A1 FGF10 FGF8 FGFR2 GATA4
9 no phenotypic analysis MP:0003012 10.08 ATF3 FGFR2 GATA4 HOXD13 SRD5A2 WT1
10 limbs/digits/tail MP:0005371 10.08 AR FGF10 FGF8 FGFR2 GATA4 HOXA13
11 embryo MP:0005380 10.06 AR FGF10 FGF8 FGFR2 GATA4 HOXA13
12 adipose tissue MP:0005375 10 AR ATF3 CYP17A1 FGF10 FGFR2 HSD17B3
13 digestive/alimentary MP:0005381 9.86 AR FGF10 FGF8 FGFR2 GATA4 HOXA13
14 skeleton MP:0005390 9.65 AR CYP17A1 FGF10 FGF8 FGFR2 GATA4
15 integument MP:0010771 9.28 AR ATF3 FGF10 FGFR2 GATA4 HOXA13
Sources

Drugs & Therapeutics for Hypospadias

About this section

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

(show top 50) (show all 127)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dexmedetomidine Approved, Experimental, Vet_approved Phase 4 86347-14-0, 113775-47-6 68602 5311068
2
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3 3680
3
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 3003 5743
4
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
5
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
6
Acetaminophen Approved Phase 4 103-90-2 1983
7 Neurotransmitter Agents Phase 4
8 Adrenergic alpha-Agonists Phase 4
9 Adrenergic Agonists Phase 4
10 Adrenergic Agents Phase 4
11 Hypnotics and Sedatives Phase 4
12 Antineoplastic Agents, Hormonal Phase 4
13 Hormones Phase 4
14 Hormone Antagonists Phase 4
15 Antiemetics Phase 4
16 glucocorticoids Phase 4
17 Anesthetics, Local Phase 4
18 Analgesics, Non-Narcotic Phase 4
19 Analgesics Phase 4
20 Analgesics, Opioid Phase 4
21 Narcotics Phase 4
22 Antipyretics Phase 4
23
Atracurium Approved, Experimental, Investigational Phase 2, Phase 3 64228-79-1 47319
24
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456 5824
25
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
26
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
27
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 2, Phase 3 437-38-7 3345
28
Atropine Approved, Vet_approved Phase 2, Phase 3 101-31-5, 5908-99-6, 51-55-8 3661 154417 174174
29
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
30
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
31
Polyestradiol phosphate Approved Phase 3 28014-46-2
32
Testosterone Approved, Investigational Phase 3 58-22-0 5408 6013
33
Ibuprofen Approved Phase 3 15687-27-1 3672
34
Oxycodone Approved, Illicit, Investigational Phase 3 76-42-6 5284603
35 Bronchodilator Agents Phase 2, Phase 3
36 Parasympatholytics Phase 2, Phase 3
37 Adrenergic beta-Agonists Phase 2, Phase 3
38 Anti-Asthmatic Agents Phase 2, Phase 3
39 Anti-Arrhythmia Agents Phase 2, Phase 3
40 Vasoconstrictor Agents Phase 2, Phase 3
41 Pharmaceutical Solutions Phase 2, Phase 3
42 Anesthetics, Intravenous Phase 2, Phase 3
43 Respiratory System Agents Phase 2, Phase 3
44 Mydriatics Phase 2, Phase 3
45 Muscarinic Antagonists Phase 2, Phase 3
46 Cholinesterase Inhibitors Phase 2, Phase 3
47 Cholinergic Antagonists Phase 2, Phase 3
48 Sympathomimetics Phase 2, Phase 3
49 Cholinergic Agents Phase 2, Phase 3
50 Estrogens Phase 3

Interventional clinical trials:

(show top 50) (show all 84)
# Name Status NCT ID Phase Drugs
1 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Completed NCT02848157 Phase 4 Dexmedetomidine;plain ropivacaine;Ropivacaine
2 Effect of Intravenous Dexamethasone in Combination With Pudendal Nerve Block on Postoperative Pain Control in Pediatric Hypospadias Repair Completed NCT03902249 Phase 4 Dexamethasone
3 A Comparison of Effectiveness of Pudendal Nerve Block vs Caudal Block for Hypospadias Surgery in Children Completed NCT02390388 Phase 4
4 Effect of Intravenous Paracetamol in Combination With Caudal Ropivacaine on Quality of Postoperative Recovery in Paediatric Patients Undergoing Hypospadias Repair Recruiting NCT03781505 Phase 4 Paracetamol +caudal ropivacaine
5 Does Caudal Block Increase the Incidence of Urethrocutaneous Fistula Formation Following Hypospadias Repair in Infants? A Multi-center Prospective Randomized Trial. Recruiting NCT02861950 Phase 4 Caudal block with ropivacaine;penile nerve block with bupivacaine
6 A Randomized Trial Evaluating Use of Long-Acting Liposomal Bupivacaine (Exparel®) in Reducing Narcotic Pain Requirements in Pediatric Patients Undergoing Minor Urologic Procedures Recruiting NCT04826484 Phase 4 Exparel 133 miligrams per 10 milliliter injection;Bupivacaine Hydrochloride
7 Effectiveness of Caudal Epidural Block on Intraoperative Blood Loss During Hypospadias Repair; A Randomized Clinical Trial Completed NCT02752308 Phase 2, Phase 3 Bupivacaine;Dilute epinephrine injection;Fentanyl;dextrose plus sodium chloride.;neostigmine and atropine
8 Use of 2-octylcyanoacrylate for Closure Urethrocutaneous Fistulas After Urethroplasty for Hypospadias Completed NCT02115191 Phase 3
9 An Intraoperative Infusion of Dexmedetomidine Reduces the Opioid Requirements for Pediatric Patients Undergoing Hypospadias Surgery Completed NCT00926705 Phase 3 Dexmedetomidine and Fentanyl;Fentanyl
10 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications. Completed NCT01370798 Phase 3 promestriene;Placebo
11 Isoamyl 2-Cyanoacrylate Interposition in the Urethro-cutaneous Fistula Repair: A Randomized Controlled Trial. Completed NCT04876976 Phase 2, Phase 3 Cyanoacrylate, Isobutyl
12 Assessment of Postoperative Pain in Boys Undergoing Hypospadias Repair Recruiting NCT04423107 Phase 3 Acetaminophen, Ibuprofen;Acetaminophen, Ibuprofen, Oxycodone
13 The Effects of Dietary Cholesterol in the 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 Modified Tubularized Incised Plate Urethroplasty (Snodgrass) For Distal Hypospadias Repair in a Circumcised Patient With the Use of a Derma -Dartos Flap for Second Layer Closure: Our Initial Experience Completed NCT05253456 Phase 2
16 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
17 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
18 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
19 Prospective, Open-label, Uncontrolled Pilot Clinical Trial to Assess the Safety and Efficacy of Autologous Cultured Oral Mucosa Grafts for Urethral Reconstruction in Patients Due to Hypospadias Treatment Failure Recruiting NCT05093166 Phase 1, Phase 2 "Ex vivo" expanded autologous human oral epithelium containing stem cells
20 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
21 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Active, not recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
22 Prospective Randomized Trial of Penile Nerve Block With Liposomal Bupivacaine for Hypospadias Repair vs Standard Penile Block With Bupivacaine Withdrawn NCT04479371 Phase 1 Liposomal bupivacaine;Bupivacaine
23 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090
24 Applying of Urethral Advancement, Glanuloplasty and Preputioplasty Technique for More Proximal Degrees of Hypospadias. Selective Criteria and a Modified Technique Unknown status NCT03911635
25 Comparison of Caudal Block Versus Dexmedetomidine Infusion in Pediatric Patients Undergoing Hypospadias Repair Surgery Unknown status NCT04331418 Dexmedetomidine
26 A Comparison Between Tourniquet Application and Epinephrine Injection for Hemostasis During Hypospadias Surgery: the Effect on Bleeding and Post-operative Outcome Unknown status NCT02268019 epinephrine injection
27 Prospective Comparative Trial to Assess the Role of Local Long Acting Steroid Injection After Hypospadias Surgery in Decreasing Complications and Preserving Better Cosmesis Unknown status NCT04196400 Early Phase 1 steroid betamethasone
28 Ultrasound Guided Out Of-Plane Technique Against Ä°n-Plane Technique for Caudal Block in Pediatric Hypospadias Surgery: A Prospective Randomized Clinical Study Unknown status NCT04671992
29 Foreskin Graft Tubularized Incised Plate Urethroplasty (TIP) vs Tubularized Incised Plate (TIP) for Primary Hypospadias. Randomized Clinical Trial (FGTIP-TIP) Unknown status NCT02497963
30 Penile Ischemia for Hypospadias Repair and The Patients and Surgeons Reported Outcomes. A Prospective Randomized Study Completed NCT04239066
31 Transverse Preputial Island Flap Versus Double Faced Preputial Flap for Repair of Penoscrotal Hypospadias With Chordee: A Randomized Controlled Trial Completed NCT04605068
32 Engaging Families to Improve the Care of Patients With Hypospadias Completed NCT05056311
33 Nalbuphine as an Adjuvant to Caudal Bupivacaine for Postoperative Analgesia in Children Undergoing Hypospadias Repair Completed NCT02618876 Nalbuphine plus Bupivacaine;Bupivacaine
34 Long Term Outcome of Hypospadias Repair: A Comparative Study Completed NCT02103712
35 Caudal Epidural Block and Ultrasound-guided Dorsal Penile Nerve Block With the In-plane Technique for Pediatric Distal Hypospadias Surgery: A Prospective Observational Study Completed NCT04215874
36 Randomized Trial of Antibiotic Prophylaxis for Prevention of Symptomatic UTI in Stented, Distal Hypospadias Repair Completed NCT03275519
37 Incidence of Urethrocutaneous Fistula Following Distal Hypospadias Repair With and Without Caudal Epidural Block - A Pilot Study Completed NCT03812731 Ropivacaine;Fentanyl Citrate
38 The Analgesic Effectiveness and Safety of Upgraded Caudal Dexmedetomidine Doses in Pediatric Hypospadias Surgery. Completed NCT03791879 Caudal dexamedatomidine analgesia
39 The Effect of Sevoflurane and Propofol on Oxidative Stress and Apoptosis Status in Children Undergoing Hypospadias Repair Surgery Completed NCT02711280 Sevoflurane;Propofol
40 A Randomized Controlled Trial of Sacral Erector Spinae Block Versus Caudal Block for Postoperative Analgesia After Hypospadias Surgery in Children Completed NCT04106687
41 Ultrasound-guided Pudendal Nerve Block Versus Ultrasound-guided Dorsal Penile Nerve Block for Pediatric Distal Hypospadias Surgery Completed NCT04668183
42 Prophylactic Antibiotics Following Distal/Mid-shaft Hypospadias Repair: Are They Necessary? Completed NCT02593903 Septra
43 Comparison of Pudendal Nerve Block vs Caudal Block for Hypospadias Repair in Young Children: A Blinded Randomized Trial Completed NCT03145415
44 Role of Lung Ultrasound in Comparison of Different Fluid Replacement Regimens in Pediatric Patients Undergoing Penile Hypospadias Repair, Randomized Control Trial Completed NCT04444089
45 Evaluation of Double Faced Transverse Preputial Onlay Island Flap for Hypospadias Repair in Pediatrics. Completed NCT05144659
46 Does the Single Use of Intravenous Dexamethasone Enhance Analgesic Quality of Pudendal Analgesia in Children Undergoing Hypospadias Surgery? Completed NCT04836962 normal saline;dexamethasone
47 Case-control Study of the Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
48 Effect of Steroids on Post-Operative Complications Following Proximal Hypospadias Repair Completed NCT02162810 Prednisolone;placebo-controlled
49 Ultrasound Guided Dorsal Penile Block vs Neurostimulator Guided Pudendal Block in Children Undergoing Hypospadias Surgery: A Prospective, Randomized, Double-Blind Trial Completed NCT03496740 Bupivacaine (Block Drug)
50 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682

Search NIH Clinical Center for Hypospadias

Cochrane evidence based reviews: hypospadias

Sources

Genetic Tests for Hypospadias

About this section

Genetic tests related to Hypospadias:

# Genetic test Affiliating Genes
1 Hypospadias 28
Sources

Anatomical Context for Hypospadias

About this section

Organs/tissues related to Hypospadias:

MalaCards : Skin, Prostate, Testis, Lung, Testes, Placenta, Heart
Sources

Publications for Hypospadias

About this section

Articles related to Hypospadias:

(show top 50) (show all 6697)
# Title Authors PMID Year
1
Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? 53 62
20215396 2010
2
[Expressions of ATF3 and CTGF and their regulation by estradiol in the prepuce of hypospadias patients]. 53 62
20180416 2009
3
The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency. 53 62
19439508 2009
4
Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype. 53 62
19178528 2009
5
Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation? 53 62
18637150 2009
6
Hypospadias in a male patient with 21-hydroxylase deficiency. 53 62
18719294 2008
7
Genomic variants of ATF3 in patients with hypospadias. 53 62
18804813 2008
8
[Human chorionic gonadotrophin regulates epidermal growth factor in the phallus of hypospadias mice]. 53 62
19157095 2008
9
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. 53 62
18697196 2008
10
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation. 53 62
18656523 2008
11
Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias. 53 62
18426833 2008
12
Diagnosis of a terminal deletion of 4p with duplication of Xp22.31 in a patient with findings of Opitz G/BBB syndrome and Wolf-Hirschhorn syndrome. 53 62
18074389 2008
13
Estradiol upregulates activating transcription factor 3, a candidate gene in the etiology of hypospadias. 53 62
18001166 2007
14
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. 53 62
17656229 2007
15
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. 53 62
17264867 2007
16
Remarkably low incidence of hypospadias in Greenland despite high exposure to endocrine disrupters; possible protective effect of androgen receptor genotype. 53 62
16609370 2006
17
[Mutation analysis of SRD5A2 gene in patients with hypospadias]. 53 62
16736621 2006
18
Activating transcription factor 3 is estrogen-responsive in utero and upregulated during sexual differentiation. 53 62
16569931 2006
19
The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias. 53 62
16174723 2005
20
Activating transcription factor 3 is up-regulated in patients with hypospadias. 53 62
16306208 2005
21
Development of the mammalian urethra is controlled by Fgfr2-IIIb. 53 62
15843416 2005
22
[Study of genic mutations of androgen receptor in hypospadias]. 53 62
15835798 2004
23
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene. 53 62
15472213 2004
24
Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study. 53 62
15483024 2004
25
Mutation analysis of five candidate genes in Chinese patients with hypospadias. 53 62
15266301 2004
26
Lack of defects in androgen production in children with hypospadias. 53 62
15181062 2004
27
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. 53 62
14504283 2003
28
De novo chromosome translocation t (2; 11) (p25.1; p13) in a patient with aniridia and genitourinary abnormalities. 53 62
12845852 2003
29
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. 53 62
14675924 2003
30
The relationship between müllerian inhibiting substance and androgens in boys with hypospadias. 53 62
12352359 2002
31
Expression of the androgen receptor and 5 alpha-reductase type 2 in the developing human fetal penis and urethra. 53 62
11845321 2002
32
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. 53 62
11595972 2001
33
Micropenis and the AR Gene: mutation and CAG repeat-length analysis. 53 62
11701709 2001
34
Disorders linked to insufficient androgen action in male children. 53 62
11392378 2001
35
Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. 53 62
11331662 2001
36
Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. 53 62
10749991 2000
37
[Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias]. 53 62
10514539 1999
38
5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias. 53 62
10458450 1999
39
Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. 53 62
10022588 1999
40
Screening for mutations in candidate genes for hypospadias. 53 62
10092153 1999
41
Constitutional WT1 mutations in Wilms' tumor patients. 53 62
9817285 1998
42
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 53 62
9499425 1998
43
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. 53 62
9207113 1997
44
Assessment of androgen receptor function in genital skin fibroblasts using a recombinant adenovirus to deliver an androgen-responsive reporter gene. 53 62
9177411 1997
45
Report of an XX male with hypospadias and pubertal gynecomastia, SRY gene negative in blood leukocytes but SRY gene positive in testicular cells. 53 62
9030973 1997
46
Testicular cancer in association with developmental renal anomalies and hypospadias. 53 62
8560668 1996
47
Maternal serum human chorionic gonadotrophin during early pregnancy resulting in boys with hypospadias or cryptorchidism. 53 62
7551854 1995
48
Steroid 5 alpha-reductase 2 deficiency. 53 62
8262007 1993
49
5 alpha-reductase deficiency without hypospadias. 53 62
2248513 1990
50
Identification of endocrine-disrupting chemicals targeting the genes and pathways of genital anomalies in males. 62
36308879 2022
Sources

Variations for Hypospadias

About this section

ClinVar genetic disease variations for Hypospadias:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DDX46 NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser) SNV Uncertain Significance
 1684500 GRCh37: 5:134153391-134153391
GRCh38: 5:134817701-134817701
2 NR5A1 NM_004959.5(NR5A1):c.910G>A (p.Glu304Lys) SNV Uncertain Significance
 1700702 GRCh37: 9:127255389-127255389
GRCh38: 9:124493110-124493110
3 FSCN3 NM_020369.3(FSCN3):c.1154A>G (p.Asn385Ser) SNV Uncertain Significance
 1339469 GRCh37: 7:127239468-127239468
GRCh38: 7:127599414-127599414
4 WNT11 NM_004626.3(WNT11):c.922A>G (p.Ser308Gly) SNV Uncertain Significance
 1339468 GRCh37: 11:75898252-75898252
GRCh38: 11:76187208-76187208
5 WNT8A NM_001300939.2(WNT8A):c.142A>G (p.Ile48Val) SNV Uncertain Significance
 1339467 GRCh37: 5:137419958-137419958
GRCh38: 5:138084269-138084269
6 PACS1 NM_018026.4(PACS1):c.2146G>A (p.Gly716Arg) SNV Uncertain Significance
 1339466 GRCh37: 11:66002813-66002813
GRCh38: 11:66235342-66235342
7 KAT6B NM_012330.4(KAT6B):c.1688C>T (p.Pro563Leu) SNV Uncertain Significance
 1339465 GRCh37: 10:76735783-76735783
GRCh38: 10:74976025-74976025
8 SND1 NM_014390.4(SND1):c.2597G>A (p.Arg866His) SNV Uncertain Significance
 1339464 GRCh37: 7:127729719-127729719
GRCh38: 7:128089667-128089667

Copy number variations for Hypospadias from CNVD:

6 (show all 17)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 128209 6 154402135 154609693 Deletion OPRM1 Hypospadia
2 128211 19 40300000 43000000 Deletion Hypospadia
3 128213 19 40300000 43000000 Deletion Hypospadia
4 128215 19 40300000 43000000 Deletion Hypospadia
5 128217 19 40300000 43000000 Deletion Hypospadia
6 128219 19 40300000 43000000 Deletion Hypospadia
7 128221 19 40300000 43000000 Deletion Hypospadia
8 128223 4 70618892 70712488 Deletion TDO2 Hypospadia
9 128225 19 40300000 43000000 Deletion 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 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

About this section

Pathways related to Hypospadias according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Mesenchymal Stem Cells and Lineage-specific Markers 65
11.52 GATA4 FGF8 FGF10
2
Metabolism of steroid hormones 66
Show member pathways
 11.44 SRD5A2 SRD5A1 HSD17B3 CYP17A1
3
Heart development 74
11.17 GATA4 FGF8 FGF10
4
Genes controlling nephrogenesis 74
11.08 WT1 FGFR2 FGF8
5
Mammalian disorder of sexual development 74
Show member pathways
 10.86 WT1 SRY SRD5A1 NR5A1 INSL3 GATA4
6
BMP signaling in eyelid development 74
10.73 FGFR2 FGF10
7
MAP3K1 role in promoting and blocking gonadal determination 74
10.61 SRY FGFR2
8
Alternative pathway of fetal androgen synthesis 74
10.17 SRD5A2 HSD17B3 CYP17A1
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 chromatin GO:0000785 9.53 ZEB2 SRY NR5A1 HOXD13 HOXA13 GATA4
2 cell body fiber GO:0070852 9.26 SRD5A2 SRD5A1

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

(show all 48)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell population proliferation GO:0008284 10.46 AR ATF3 FGF10 FGF8 FGFR2 INSL3
2 regulation of DNA-templated transcription GO:0006355 10.44 AR ATF3 GATA4 HOXA13 HOXD13 NR5A1
3 positive regulation of gene expression GO:0010628 10.38 AR ATF3 FGF10 FGF8 NR5A1 SRY
4 positive regulation of transcription by RNA polymerase II GO:0045944 10.36 AR ATF3 FGF10 FGFR2 GATA4 HOXA13
5 cell-cell signaling GO:0007267 10.25 AR FGF10 FGFR2 GATA4 INSL3 SRD5A2
6 animal organ morphogenesis GO:0009887 10.23 HOXA13 FGFR2 FGF8 FGF10
7 cell fate commitment GO:0045165 10.18 GATA4 FGFR2 FGF8
8 fibroblast growth factor receptor signaling pathway GO:0008543 10.17 FGFR2 FGF8 FGF10
9 anatomical structure morphogenesis GO:0009653 10.15 SRY HOXA13 GATA4 FGF8
10 bone development GO:0060348 10.13 SRD5A2 SRD5A1 FGFR2 FGF8
11 steroid biosynthetic process GO:0006694 10.1 SRD5A2 SRD5A1 HSD17B3 CYP17A1
12 tissue development GO:0009888 10.04 WT1 NR5A1 GATA4
13 organ induction GO:0001759 10 FGF8 FGF10
14 cellular response to testosterone stimulus GO:0071394 10 SRD5A1 AR
15 progesterone metabolic process GO:0042448 10 SRD5A1 CYP17A1
16 inner ear morphogenesis GO:0042472 9.99 FGFR2 FGF8 FGF10
17 bud elongation involved in lung branching GO:0060449 9.98 FGFR2 FGF10
18 lacrimal gland development GO:0032808 9.98 FGFR2 FGF10
19 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.96 HOXD13 FGFR2
20 response to follicle-stimulating hormone GO:0032354 9.96 SRD5A2 SRD5A1
21 organ growth GO:0035265 9.96 FGF10 FGF8 FGFR2
22 female genitalia development GO:0030540 9.95 SRD5A2 SRD5A1
23 branching involved in prostate gland morphogenesis GO:0060442 9.95 HOXA13 FGFR2
24 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.93 FGF10 FGFR2
25 testosterone biosynthetic process GO:0061370 9.93 HSD17B3 SRD5A2
26 positive regulation of male gonad development GO:2000020 9.93 WT1 SRY NR5A1
27 mitotic nuclear division GO:0140014 9.92 FGF8 HOXA13
28 morphogenesis of an epithelial fold GO:0060571 9.92 HOXD13 AR
29 male genitalia morphogenesis GO:0048808 9.91 FGF10 AR
30 negative regulation of female gonad development GO:2000195 9.91 WT1 NR5A1
31 sex determination GO:0007530 9.91 WT1 SRD5A1 NR5A1
32 response to testosterone GO:0033574 9.91 SRD5A2 SRD5A1 HOXD13 HOXA13
33 embryonic hindgut morphogenesis GO:0048619 9.9 HOXD13 HOXA13
34 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.89 FGF10 FGFR2
35 mammary gland bud formation GO:0060615 9.88 FGF10 FGFR2
36 branch elongation involved in salivary gland morphogenesis GO:0060667 9.88 FGF10 FGFR2
37 branching involved in salivary gland morphogenesis GO:0060445 9.88 FGFR2 FGF8 FGF10
38 otic vesicle formation GO:0030916 9.88 FGF10 FGF8 FGFR2
39 mesenchymal cell differentiation involved in lung development GO:0060915 9.87 FGF10 FGFR2
40 gland morphogenesis GO:0022612 9.86 HOXD13 FGFR2
41 male gonad development GO:0008584 9.86 WT1 SRD5A2 SRD5A1 NR5A1 MAMLD1 INSL3
42 epidermis morphogenesis GO:0048730 9.85 FGFR2 FGF10
43 limb morphogenesis GO:0035108 9.85 HOXD13 FGF8 FGF10
44 reproductive structure development GO:0048608 9.83 FGFR2 AR
45 animal organ formation GO:0048645 9.82 FGF10 AR
46 androgen biosynthetic process GO:0006702 9.76 CYP17A1 HSD17B3 SRD5A1 SRD5A2
47 sex differentiation GO:0007548 9.73 SRY SRD5A2 SRD5A1 CYP17A1
48 male genitalia development GO:0030539 9.47 WT1 SRD5A2 SRD5A1 HSD17B3 HOXD13 HOXA13

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 10.39 AR ATF3 GATA4 HOXA13 HOXD13 NR5A1
2 RNA polymerase II cis-regulatory region sequence-specific DNA binding GO:0000978 10.32 AR ATF3 GATA4 HOXA13 HOXD13 NR5A1
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 10.27 WT1 HOXD13 HOXA13 GATA4 ATF3 AR
4 transcription cis-regulatory region binding GO:0000976 10.06 WT1 HOXA13 GATA4 ATF3 AR
5 testosterone dehydrogenase [NAD(P)] activity GO:0030283 9.78 SRD5A2 HSD17B3
6 type 2 fibroblast growth factor receptor binding GO:0005111 9.76 FGF8 FGF10
7 cis-regulatory region sequence-specific DNA binding GO:0000987 9.69 HOXD13 HOXA13 GATA4
8 sequence-specific DNA binding GO:0043565 9.65 AR GATA4 HOXA13 NR5A1 WT1 ZEB2
9 cholestenone 5-alpha-reductase activity GO:0047751 9.62 SRD5A2 SRD5A1
10 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.56 SRD5A2 SRD5A1
11 amide binding GO:0033218 9.46 SRD5A2 SRD5A1
12 DNA-binding transcription factor activity GO:0003700 9.44 WT1 SRY NR5A1 HOXD13 HOXA13 GATA4
Sources

Sources for Hypospadias

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 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
Content
Loading form....