MCID: HYP040
MIFTS: 51

Hypospadias

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

Aliases & Classifications for Hypospadias

MalaCards integrated aliases for Hypospadias:

Name: Hypospadias 12 36 29 54 44 15 17 32
Hypospadias Familial 73 20
Familial Hypospadias 12

Classifications:



External Ids:

Disease Ontology 12 DOID:10892
KEGG 36 H02175
MeSH 44 D007021
NCIt 50 C40341
SNOMED-CT 67 156968008
ICD10 32 Q54 Q54.9
UMLS 70 C0848558

Summaries for Hypospadias

KEGG : 36 Hypospadias (HYSP) is defined as a defect in the development of the ventral aspect of the penis along with an ectopic opening of the urethral meatus. It is thought to be due to a combination of genetic and environmental factors. Mutations in the androgen receptor gene (AR) have been found in patients with severe forms of hypospadias. It was also reported that MAMLD1 is a causative gene. MAMLD1 is an X-linked transcriptional co-activator, expressed in foetal Sertoli and Leydig cells around the critical period for sexual development.

MalaCards based summary : Hypospadias, also known as hypospadias familial, is related to preaxial deficiency, postaxial polydactyly, and hypospadias and posterior hypospadias. An important gene associated with Hypospadias is SRD5A2 (Steroid 5 Alpha-Reductase 2), and among its related pathways/superpathways are Metabolism of steroid hormones and Steroid hormone biosynthesis. The drugs Ropivacaine and Acetaminophen have been mentioned in the context of this disorder. Affiliated tissues include skin, testis and heart, 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 : 73 Hypospadias is a common variation in fetal development of the penis in which the urethra does not open... 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 459)
# Related Disease Score Top Affiliating Genes
1 preaxial deficiency, postaxial polydactyly, and hypospadias 32.7 HOXD13 HOXA13
2 posterior hypospadias 32.6 MAMLD1 AR
3 androgen insensitivity, partial 32.1 SRD5A1 AR
4 hand-foot-genital syndrome 31.8 MAMLD1 HOXD13 HOXA13 FGF8
5 androgen insensitivity syndrome 31.2 SRY SRD5A2 SRD5A1 NR5A1 MAMLD1 HSD17B3
6 penis agenesis 31.0 SRD5A2 SRD5A1 CYP17A1 AR
7 hermaphroditism 30.8 SRY SRD5A2 AR
8 gonadal dysgenesis 30.7 WT1 SRY NR5A1
9 gynecomastia 30.6 SRY SRD5A2 SRD5A1 HSD17B3 AR
10 cryptorchidism, unilateral or bilateral 30.6 WT1 SRD5A2 SRD5A1 NR5A1 MAMLD1 HSD17B3
11 lipoid congenital adrenal hyperplasia 30.5 SRD5A1 NR5A1 CYP17A1
12 mixed gonadal dysgenesis 30.5 SRY SRD5A1 NR5A1
13 anus, imperforate 30.5 MID1 HOXD13 FGF8 FGF10
14 disorder of sexual development 30.5 WT1 SRD5A2 NR5A1 MAMLD1 HSD17B3 CYP17A1
15 wilms tumor 1 30.2 WT1 SRY NR5A1 ATF3 AR
16 persistent mullerian duct syndrome 30.2 WT1 SRD5A2 NR5A1 MAMLD1 HSD17B3
17 denys-drash syndrome 30.1 WT1 SRD5A1 NR5A1
18 pseudohermaphroditism 30.1 WT1 SRY SRD5A2 SRD5A1 NR5A1 HSD17B3
19 transsexualism 30.1 SRD5A2 CYP17A1 AR
20 male infertility 30.0 SRY NR5A1 HOXD13 CYP17A1 AR
21 oligospermia 30.0 SRD5A2 HOXD13 AR
22 anorchia 30.0 SRY NR5A1
23 renal hypodysplasia/aplasia 1 30.0 WT1 HOXD13 FGFR2 FGF8 FGF10
24 aromatase excess syndrome 29.9 NR5A1 CYP17A1 AR
25 synostosis 29.9 TBX22 HOXD13 FGFR2 FGF8
26 46,xy sex reversal 2 29.9 WT1 NR5A1 CYP17A1
27 acne 29.8 SRD5A1 FGFR2 AR
28 chromosome 2q35 duplication syndrome 29.5 HOXD13 HOXA13 FGFR2 FGF8 FGF10
29 pseudovaginal perineoscrotal hypospadias 11.6
30 opitz-gbbb syndrome 11.6
31 opitz gbbb syndrome, type ii 11.5
32 hypospadias 1, x-linked 11.5
33 schilbach-rott syndrome 11.5
34 hypospadias 2, x-linked 11.4
35 opitz gbbb syndrome, type i 11.4
36 acrofrontofacionasal dysostosis 2 11.3
37 elsahy-waters syndrome 11.3
38 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 11.3
39 hypospadias-intellectual disability, goldblatt type syndrome 11.2
40 hypospadias 3, autosomal 11.2
41 spina bifida hypospadias 11.1
42 hypospadias-mental retardation syndrome 11.1
43 hypospadias 4, x-linked 11.1
44 acrofacial dysostosis, catania type 11.0
45 abruzzo-erickson syndrome 10.9
46 leydig cell hypoplasia 10.9
47 penoscrotal transposition 10.9
48 leydig cell hypoplasia, type i 10.9
49 otopalatodigital syndrome, type ii 10.9
50 n syndrome 10.9

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to Hypospadias

Symptoms & Phenotypes for Hypospadias

MGI Mouse Phenotypes related to Hypospadias:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.27 AR ATF3 CYP17A1 FGF10 FGF8 FGFR2
2 endocrine/exocrine gland MP:0005379 10.18 AR ATF3 FGF10 FGF8 FGFR2 HOXA13
3 embryo MP:0005380 10.13 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
4 digestive/alimentary MP:0005381 10.06 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
5 integument MP:0010771 9.97 AR ATF3 FGF10 FGFR2 HOXA13 HOXD13
6 muscle MP:0005369 9.86 AR FGF10 FGF8 FGFR2 HOXD13 HSD17B3
7 normal MP:0002873 9.76 AR FGF10 FGF8 FGFR2 MID1 NR5A1
8 renal/urinary system MP:0005367 9.56 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
9 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 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
2
Acetaminophen Approved Phase 4 103-90-2 1983
3
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
4 Hormone Antagonists Phase 4
5 glucocorticoids Phase 4
6 Hormones Phase 4
7 Antineoplastic Agents, Hormonal Phase 4
8 Anti-Inflammatory Agents Phase 4
9 Antiemetics Phase 4
10 Analgesics, Non-Narcotic Phase 4
11 Analgesics Phase 4
12 Antipyretics Phase 4
13 Anesthetics Phase 4
14 Anesthetics, Local Phase 4
15 Narcotics Phase 4
16 Analgesics, Opioid Phase 4
17
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
18
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
19
Atropine Approved, Vet_approved Phase 2, Phase 3 5908-99-6, 51-55-8 174174
20
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
21
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
22
Polyestradiol phosphate Approved Phase 3 28014-46-2
23
Testosterone Approved, Investigational Phase 3 58-22-0 6013
24
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
25
Ibuprofen Approved Phase 3 15687-27-1 3672
26
Oxycodone Approved, Illicit, Investigational Phase 3 76-42-6 5284603
27 Vasoconstrictor Agents Phase 2, Phase 3
28 Adrenergic beta-Agonists Phase 2, Phase 3
29 Mydriatics Phase 2, Phase 3
30 Sympathomimetics Phase 2, Phase 3
31 Bronchodilator Agents Phase 2, Phase 3
32 Anesthetics, Intravenous Phase 2, Phase 3
33 Anti-Arrhythmia Agents Phase 2, Phase 3
34 Parasympatholytics Phase 2, Phase 3
35 Cholinergic Agents Phase 2, Phase 3
36 Cholinesterase Inhibitors Phase 2, Phase 3
37 Muscarinic Antagonists Phase 2, Phase 3
38 Cholinergic Antagonists Phase 2, Phase 3
39 Estradiol 17 beta-cypionate Phase 3
40 Estrogens Phase 3
41 Estradiol 3-benzoate Phase 3
42 Cyclooxygenase Inhibitors Phase 3
43 Antirheumatic Agents Phase 3
44 Anti-Inflammatory Agents, Non-Steroidal Phase 3
45
Clonidine Approved Phase 2 4205-90-7 2803
46
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 2 439-14-5 3016
47
Simvastatin Approved Phase 2 79902-63-9 54454
48
tannic acid Approved Phase 1, Phase 2 1401-55-4
49
Benzocaine Approved, Investigational Phase 1, Phase 2 1994-09-7, 94-09-7 2337
50 Psychotropic Drugs Phase 2

Interventional clinical trials:

(show top 50) (show all 69)
# 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 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
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 A Randomized Trial Evaluating Use of Long-Acting Liposomal Bupivacaine (Exparel®) in Reducing Narcotic Pain Requirements in Pediatric Patients Undergoing Minor Urologic Procedures Not yet recruiting NCT04826484 Phase 4 Exparel 133 MG Per 10 ML 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 Local Oestrogen Versus Placebo as Preoperative Treatment in Patients With Severe Hypospadias: Effects on Post-operative Complications. Completed NCT01370798 Phase 3 promestriene;Placebo
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 Use of 2-octylcyanoacrylate for Closure Urethrocutaneous Fistulas After Urethroplasty for Hypospadias Completed NCT02115191 Phase 3
11 Assessment of Postoperative Pain in Boys Undergoing Hypospadias Repair Recruiting NCT04423107 Phase 3 Acetaminophen, Ibuprofen;Acetaminophen, Ibuprofen, Oxycodone
12 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
13 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
14 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
15 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
16 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
17 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
18 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
19 Prospective Randomized Trial of Penile Nerve Block With Liposomal Bupivacaine for Hypospadias Repair vs Standard Penile Block With Bupivacaine Not yet recruiting NCT04479371 Phase 1 Liposomal bupivacaine;Bupivacaine
20 Comparison of Pudendal Nerve Block vs Caudal Block for Hypospadias Repair in Young Children: A Blinded Randomized Trial Unknown status NCT03145415
21 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
22 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090
23 Foreskin Graft Tubularized Incised Plate Urethroplasty (TIP) vs Tubularized Incised Plate (TIP) for Primary Hypospadias. Randomized Clinical Trial (FGTIP-TIP) Unknown status NCT02497963
24 The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group Unknown status NCT01762007
25 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
26 Comparison of Structural and Molecular Genetic Properties Between Normal and Hypospadic Children's Prepuces Completed NCT03838458
27 The Analgesic Effectiveness and Safety of Upgraded Caudal Dexmedetomidine Doses in Pediatric Hypospadias Surgery. Completed NCT03791879 Caudal dexamedatomidine analgesia
28 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
29 To Compare the Frequency of Urethrocutaneous Fistula After Double Dartos Tubularized Incised Plate (TIP) Urethroplasty and Single Dartos Tubularized Incised Completed NCT04699318
30 Incidence of Urethrocutaneous Fistula Following Distal Hypospadias Repair With and Without Caudal Epidural Block - A Pilot Study Completed NCT03812731 Ropivacaine;Fentanyl Citrate
31 Case-control Study of the Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
32 Transverse Preputial Island Flap Versus Double Faced Preputial Flap for Repair of Penoscrotal Hypospadias With Chordee: A Randomized Controlled Trial Completed NCT04605068
33 Prophylactic Antibiotics Following Distal/Mid-shaft Hypospadias Repair: Are They Necessary? Completed NCT02593903 Septra
34 Randomized Trial of Antibiotic Prophylaxis for Prevention of Symptomatic UTI in Stented, Distal Hypospadias Repair Completed NCT03275519
35 Penile Ischemia for Hypospadias Repair and The Patients and Surgeons Reported Outcomes. A Prospective Randomized Study Completed NCT04239066
36 Long Term Outcome of Hypospadias Repair: A Comparative Study Completed NCT02103712
37 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
38 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682
39 Comparison of Dorsal Penile Nerve Block (DPNB According to Dalens' Technique) to Dorsale Penile Nerve Block With Ventromedial Infiltration Completed NCT01974011
40 Role of Lung Ultrasound in Comparison of Different Fluid Replacement Regimens in Pediatric Patients Undergoing Penile Hypospadias Repair, Randomized Control Trial Completed NCT04444089
41 Ultrasound-guided Pudendal Nerve Block Versus Ultrasound-guided Dorsal Penile Nerve Block for Pediatric Distal Hypospadias Surgery Completed NCT04668183
42 The Effect of Sevoflurane and Propofol on Oxidative Stress and Apoptosis Status in Children Undergoing Hypospadias Repair Surgery Completed NCT02711280 Sevoflurane;Propofol
43 Nalbuphine as an Adjuvant to Caudal Bupivacaine for Postoperative Analgesia in Children Undergoing Hypospadias Repair Completed NCT02618876 Nalbuphine plus Bupivacaine;Bupivacaine
44 A Randomized Controlled Trial of Sacral Erector Spinae Block Versus Caudal Block for Postoperative Analgesia After Hypospadias Surgery in Children Completed NCT04106687
45 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)
46 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
47 Clinical and Basic Investigations Into Smith-Lemli-Opitz Syndrome Completed NCT00001721
48 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
49 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
50 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Completed NCT03575377

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 29

Anatomical Context for Hypospadias

MalaCards organs/tissues related to Hypospadias:

40
Skin, Testis, Heart, Testes, Kidney, Breast, Prostate

Publications for Hypospadias

Articles related to Hypospadias:

(show top 50) (show all 6237)
# Title Authors PMID Year
1
Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? 61 54
20215396 2010
2
[Expressions of ATF3 and CTGF and their regulation by estradiol in the prepuce of hypospadias patients]. 61 54
20180416 2009
3
Comparison of the molecular consequences of different mutations at residue 754 and 690 of the androgen receptor (AR) and androgen insensitivity syndrome (AIS) phenotype. 61 54
19178528 2009
4
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. 54 61
19439508 2009
5
Is hypospadias a genetic, endocrine or environmental disease, or still an unexplained malformation? 61 54
18637150 2009
6
Hypospadias in a male patient with 21-hydroxylase deficiency. 61 54
18719294 2008
7
Genomic variants of ATF3 in patients with hypospadias. 61 54
18804813 2008
8
[Human chorionic gonadotrophin regulates epidermal growth factor in the phallus of hypospadias mice]. 61 54
19157095 2008
9
A novel mutation F826L in the human androgen receptor in partial androgen insensitivity syndrome; increased NH2-/COOH-terminal domain interaction and TIF2 co-activation. 61 54
18656523 2008
10
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. 54 61
18697196 2008
11
Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias. 61 54
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. 54 61
18074389 2008
13
Estradiol upregulates activating transcription factor 3, a candidate gene in the etiology of hypospadias. 61 54
18001166 2007
14
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. 54 61
17656229 2007
15
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. 54 61
17264867 2007
16
Remarkably low incidence of hypospadias in Greenland despite high exposure to endocrine disrupters; possible protective effect of androgen receptor genotype. 54 61
16609370 2006
17
[Mutation analysis of SRD5A2 gene in patients with hypospadias]. 54 61
16736621 2006
18
Activating transcription factor 3 is estrogen-responsive in utero and upregulated during sexual differentiation. 61 54
16569931 2006
19
Activating transcription factor 3 is up-regulated in patients with hypospadias. 61 54
16306208 2005
20
The valine allele of the V89L polymorphism in the 5-alpha-reductase gene confers a reduced risk for hypospadias. 54 61
16174723 2005
21
Development of the mammalian urethra is controlled by Fgfr2-IIIb. 61 54
15843416 2005
22
[Study of genic mutations of androgen receptor in hypospadias]. 61 54
15835798 2004
23
Frequency and heritability of WT1 mutations in nonsyndromic Wilms' tumor patients: a UK Children's Cancer Study Group Study. 61 54
15483024 2004
24
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene. 61 54
15472213 2004
25
Mutation analysis of five candidate genes in Chinese patients with hypospadias. 54 61
15266301 2004
26
Lack of defects in androgen production in children with hypospadias. 61 54
15181062 2004
27
CYP17 mutation E305G causes isolated 17,20-lyase deficiency by selectively altering substrate binding. 54 61
14504283 2003
28
De novo chromosome translocation t (2; 11) (p25.1; p13) in a patient with aniridia and genitourinary abnormalities. 54 61
12845852 2003
29
Exclusion of WTAP and HOXA13 as candidate genes for isolated hypospadias. 54 61
14675924 2003
30
The relationship between müllerian inhibiting substance and androgens in boys with hypospadias. 54 61
12352359 2002
31
Expression of the androgen receptor and 5 alpha-reductase type 2 in the developing human fetal penis and urethra. 54 61
11845321 2002
32
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. 61 54
11595972 2001
33
Micropenis and the AR Gene: mutation and CAG repeat-length analysis. 54 61
11701709 2001
34
Disorders linked to insufficient androgen action in male children. 61 54
11392378 2001
35
Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. 61 54
11331662 2001
36
Longer polyglutamine tracts in the androgen receptor are associated with moderate to severe undermasculinized genitalia in XY males. 61 54
10749991 2000
37
[Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias]. 54 61
10514539 1999
38
5alpha-reductase type 2 mutations are present in some boys with isolated hypospadias. 54 61
10458450 1999
39
Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. 54 61
10022588 1999
40
Screening for mutations in candidate genes for hypospadias. 54 61
10092153 1999
41
Constitutional WT1 mutations in Wilms' tumor patients. 61 54
9817285 1998
42
Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. 61 54
9499425 1998
43
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract. 54 61
9207113 1997
44
Assessment of androgen receptor function in genital skin fibroblasts using a recombinant adenovirus to deliver an androgen-responsive reporter gene. 54 61
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. 61 54
9030973 1997
46
Testicular cancer in association with developmental renal anomalies and hypospadias. 61 54
8560668 1996
47
Maternal serum human chorionic gonadotrophin during early pregnancy resulting in boys with hypospadias or cryptorchidism. 54 61
7551854 1995
48
Steroid 5 alpha-reductase 2 deficiency. 54 61
8262007 1993
49
5 alpha-reductase deficiency without hypospadias. 61 54
2248513 1990
50
British Association of Urological Surgeons (BAUS) and Nurses (BAUN) Consensus Document: Management of the Complications of Long Term Indwelling Catheters. 61
33811741 2021

Variations for Hypospadias

Copy number variations for Hypospadias from CNVD:

7 (show all 17)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 137135 2 138750000 144750000 Deletion ARHGAP15 Hypospadia
2 137139 2 138750000 144750000 Deletion GTDC1 Hypospadia
3 137143 2 138750000 144750000 Deletion HNMT Hypospadia
4 137147 2 138750000 144750000 Deletion KYNU Hypospadia
5 137151 2 138750000 144750000 Deletion Hypospadia
6 137155 2 138750000 144750000 Deletion LRP1B Hypospadia
7 137159 2 138750000 144750000 Deletion NXPH2 Hypospadia
8 137163 2 138750000 144750000 Deletion SPOPL Hypospadia
9 128225 19 40300000 43000000 Deletion Hypospadia
10 128223 4 70618892 70712488 Deletion TDO2 Hypospadia
11 128221 19 40300000 43000000 Deletion Hypospadia
12 128219 19 40300000 43000000 Deletion Hypospadia
13 128217 19 40300000 43000000 Deletion Hypospadia
14 128215 19 40300000 43000000 Deletion Hypospadia
15 128213 19 40300000 43000000 Deletion Hypospadia
16 128211 19 40300000 43000000 Deletion Hypospadia
17 128209 6 154402135 154609693 Deletion OPRM1 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 chromatin GO:0000785 9.28 ZEB2 WT1 TBX22 SRY NR5A1 HOXD13
2 organelle membrane GO:0031090 9.13 SRD5A2 SRD5A1 CYP17A1

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

(show top 50) (show all 55)
# Name GO ID Score Top Affiliating Genes
1 regulation of transcription, DNA-templated GO:0006355 10.22 WT1 TBX22 SRY NR5A1 HOXD13 HOXA13
2 regulation of transcription by RNA polymerase II GO:0006357 10.22 ZEB2 WT1 TBX22 NR5A1 MAMLD1 HOXD13
3 cell differentiation GO:0030154 10.19 SRY SRD5A2 SRD5A1 NR5A1 FGF8 FGF10
4 negative regulation of transcription by RNA polymerase II GO:0000122 10.14 ZEB2 WT1 TBX22 SRY FGFR2 ATF3
5 positive regulation of transcription, DNA-templated GO:0045893 10.13 WT1 SRY NR5A1 MID2 FGF10 AR
6 positive regulation of cell proliferation GO:0008284 10.1 FGFR2 FGF8 FGF10 ATF3 AR
7 positive regulation of gene expression GO:0010628 10 WT1 SRY NR5A1 FGF8 FGF10 ATF3
8 cell-cell signaling GO:0007267 9.98 SRD5A2 FGFR2 FGF10 AR
9 positive regulation of transcription by RNA polymerase II GO:0045944 9.96 ZEB2 WT1 SRY NR5A1 HOXD13 HOXA13
10 animal organ morphogenesis GO:0009887 9.91 HOXA13 FGFR2 FGF8 FGF10
11 positive regulation of MAPK cascade GO:0043410 9.89 FGFR2 FGF10 AR
12 lung development GO:0030324 9.88 FGFR2 FGF8 FGF10
13 fibroblast growth factor receptor signaling pathway GO:0008543 9.87 FGFR2 FGF8 FGF10
14 epithelial cell differentiation GO:0030855 9.85 WT1 FGFR2 FGF10
15 inner ear morphogenesis GO:0042472 9.82 FGFR2 FGF8 FGF10
16 bone development GO:0060348 9.82 SRD5A1 FGFR2 FGF8
17 steroid biosynthetic process GO:0006694 9.8 SRD5A2 SRD5A1 HSD17B3 CYP17A1
18 adrenal gland development GO:0030325 9.72 WT1 NR5A1
19 androgen metabolic process GO:0008209 9.71 SRD5A2 SRD5A1
20 embryonic digestive tract morphogenesis GO:0048557 9.71 FGFR2 FGF10
21 gonad development GO:0008406 9.7 WT1 FGF8
22 mesonephros development GO:0001823 9.7 FGF8 FGF10
23 limb bud formation GO:0060174 9.7 FGFR2 FGF10
24 organ growth GO:0035265 9.7 FGFR2 FGF10
25 progesterone metabolic process GO:0042448 9.69 SRD5A1 CYP17A1
26 male sex determination GO:0030238 9.69 SRY NR5A1
27 limb morphogenesis GO:0035108 9.69 HOXD13 FGF8 FGF10
28 organ induction GO:0001759 9.68 FGF8 FGF10
29 gland morphogenesis GO:0022612 9.68 HOXD13 FGFR2
30 cellular response to testosterone stimulus GO:0071394 9.67 SRD5A1 AR
31 protein localization to microtubule GO:0035372 9.67 MID2 MID1
32 bud elongation involved in lung branching GO:0060449 9.67 FGFR2 FGF10
33 epidermis morphogenesis GO:0048730 9.66 FGFR2 FGF10
34 reproductive structure development GO:0048608 9.66 FGFR2 AR
35 lacrimal gland development GO:0032808 9.65 FGFR2 FGF10
36 branching involved in salivary gland morphogenesis GO:0060445 9.65 FGFR2 FGF8 FGF10
37 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.64 HOXD13 FGFR2
38 branching involved in prostate gland morphogenesis GO:0060442 9.63 HOXA13 FGFR2
39 animal organ formation GO:0048645 9.63 FGF10 AR
40 male gonad development GO:0008584 9.63 WT1 SRD5A2 SRD5A1 NR5A1 MAMLD1 AR
41 testosterone biosynthetic process GO:0061370 9.62 SRD5A2 HSD17B3
42 sex differentiation GO:0007548 9.62 SRY SRD5A2 SRD5A1 CYP17A1
43 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.61 FGFR2 FGF10
44 positive regulation of male gonad development GO:2000020 9.61 WT1 SRY NR5A1
45 male genitalia morphogenesis GO:0048808 9.6 FGF10 AR
46 negative regulation of female gonad development GO:2000195 9.58 WT1 NR5A1
47 morphogenesis of an epithelial fold GO:0060571 9.58 HOXD13 AR
48 sex determination GO:0007530 9.58 WT1 SRD5A1 NR5A1
49 mesenchymal cell differentiation involved in lung development GO:0060915 9.56 FGFR2 FGF10
50 branch elongation involved in salivary gland morphogenesis GO:0060667 9.55 FGFR2 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.06 ZEB2 WT1 TBX22 SRY NR5A1 HOXD13
2 sequence-specific DNA binding GO:0043565 9.85 ZEB2 WT1 NR5A1 HOXA13 AR
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.83 WT1 HOXD13 HOXA13 ATF3 AR
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.81 ZEB2 WT1 TBX22 SRY NR5A1 HOXD13
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.78 WT1 HOXA13 ATF3 AR
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.61 ZEB2 WT1 TBX22 SRY NR5A1 HOXD13
7 type 2 fibroblast growth factor receptor binding GO:0005111 9.37 FGF8 FGF10
8 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 9.32 SRD5A2 SRD5A1
9 cholestenone 5-alpha-reductase activity GO:0047751 9.26 SRD5A2 SRD5A1
10 DNA-binding transcription factor activity GO:0003700 9.23 WT1 TBX22 SRY NR5A1 HOXD13 HOXA13

Sources for Hypospadias

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....