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MCID: HYP040
MIFTS: 51

Hypospadias

Categories: Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs
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Aliases & Classifications for Hypospadias

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MalaCards integrated aliases for Hypospadias:

Name: Hypospadias 12 36 29 54 43 15 17 32
Hypospadias Familial 74 52
Familial Hypospadias 12

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Fetal diseases
Anatomical: Reproductive diseases
See all MalaCards categories (disease lists)
ICD10: 32


External Ids:

Disease Ontology 12 DOID:10892
KEGG 36 H02175
MeSH 43 D007021
NCIt 49 C40341
SNOMED-CT 67 416010008
ICD10 32 Q54 Q54.9
UMLS 71 C0848558
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Summaries for Hypospadias

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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 Sevoflurane and Dexmedetomidine have been mentioned in the context of this disorder. Affiliated tissues include skin, testis and prostate, and related phenotypes are endocrine/exocrine gland and embryo

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

Wikipedia : 74 Hypospadias is a common variation in fetal development of the penis in which the urethra does not open... more...

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Related Diseases for Hypospadias

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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 452)
# Related Disease Score Top Affiliating Genes
1 preaxial deficiency, postaxial polydactyly, and hypospadias 34.6 HOXD13 HOXA13
2 posterior hypospadias 34.6 MAMLD1 AR
3 pseudovaginal perineoscrotal hypospadias 34.6 SRD5A2 SRD5A1 CYP17A1 AR
4 androgen insensitivity, partial 33.0 SRD5A1 AR
5 androgen insensitivity syndrome 32.0 SRY SRD5A2 SRD5A1 NR5A1 MAMLD1 HSD17B3
6 hypogonadotropic hypogonadism 32.0 NR5A1 INSL3 FGF8 AR
7 hermaphroditism 31.3 SRY SRD5A2 AR
8 gonadal dysgenesis 30.9 WT1 SRY NR5A1
9 mixed gonadal dysgenesis 30.8 SRY SRD5A1 NR5A1
10 gynecomastia 30.7 SRY SRD5A2 SRD5A1 HSD17B3 AR
11 lipoid congenital adrenal hyperplasia 30.6 SRD5A1 NR5A1 HSD17B3 CYP17A1
12 transsexualism 30.4 SRD5A2 CYP17A1 AR
13 oligospermia 30.4 SRD5A2 HOXD13 AR
14 complete androgen insensitivity syndrome 30.3 SRY AR
15 wilms tumor 1 30.2 WT1 SRY NR5A1 ATF3 AR
16 46,xy partial gonadal dysgenesis 30.2 WT1 SRY NR5A1
17 46,xy sex reversal 2 30.1 WT1 NR5A1 CYP17A1
18 disorders of sexual development 30.1 WT1 SRD5A2 NR5A1 INSL3 HSD17B3 CYP17A1
19 male infertility 30.0 SRY NR5A1 INSL3 AR
20 anorchia 30.0 SRY NR5A1 INSL3
21 synostosis 29.9 HOXD13 FGFR2 FGF8
22 cryptorchidism, unilateral or bilateral 29.8 WT1 SRD5A2 SRD5A1 NR5A1 MAMLD1 INSL3
23 renal hypodysplasia/aplasia 1 29.8 WT1 FGFR2 FGF8 FGF10
24 persistent mullerian duct syndrome 29.8 WT1 SRD5A2 NR5A1 INSL3 HSD17B3
25 pseudohermaphroditism 29.6 WT1 SRY SRD5A2 SRD5A1 NR5A1 INSL3
26 chromosome 2q35 duplication syndrome 29.4 HOXD13 HOXA13 FGFR2 FGF8 FGF10
27 hypospadias 1, x-linked 12.6
28 hypospadias 2, x-linked 12.6
29 radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema 12.5
30 hypospadias 3, autosomal 12.4
31 hypospadias-intellectual disability, goldblatt type syndrome 12.4
32 hypospadias-mental retardation syndrome 12.3
33 hypospadias 4, x-linked 12.3
34 opitz-gbbb syndrome 12.3
35 anal atresia, hypospadias, and penoscrotal inversion 12.2
36 opitz gbbb syndrome, type ii 12.2
37 spina bifida hypospadias 12.2
38 schilbach-rott syndrome 12.2
39 opitz gbbb syndrome, type i 12.2
40 deafness hypospadias metacarpal and metatarsal syndrome 12.1
41 lower limb malformation-hypospadias syndrome 12.1
42 spondylocostal dysostosis-hypospadias-intellectual disability syndrome 12.1
43 acrofrontofacionasal dysostosis 2 12.1
44 elsahy-waters syndrome 12.1
45 hand-foot-genital syndrome 11.5
46 abruzzo-erickson syndrome 11.5
47 leydig cell hypoplasia 11.5
48 penoscrotal transposition 11.4
49 wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome 11.3
50 bowen-conradi syndrome 11.3

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to Hypospadias
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Symptoms & Phenotypes for Hypospadias

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MGI Mouse Phenotypes related to Hypospadias:

45
# 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 muscle MP:0005369 9.8 AR FGF10 FGF8 FGFR2 HOXD13 MID1
5 reproductive system MP:0005389 9.77 AR CYP17A1 FGF10 FGF8 FGFR2 HOXA13
6 renal/urinary system MP:0005367 9.7 AR FGF10 FGF8 FGFR2 HOXA13 HOXD13
7 skeleton MP:0005390 9.28 AR ATF3 CYP17A1 FGF10 FGF8 FGFR2
Sources

Drugs & Therapeutics for Hypospadias

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

(show top 50) (show all 155)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
2
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 5311068 68602
3
Remifentanil Approved Phase 4 132875-61-7 60815
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 Adrenergic alpha-Agonists Phase 4
8 Adrenergic Agents Phase 4
9 Adrenergic Agonists Phase 4
10 Neurotransmitter Agents Phase 4
11 Hypnotics and Sedatives Phase 4
12 Narcotics Phase 4
13 Hormones Phase 4
14 glucocorticoids Phase 4
15 Hormone Antagonists Phase 4
16 Antineoplastic Agents, Hormonal Phase 4
17 Antiemetics Phase 4
18 Analgesics Phase 4
19 Anesthetics, Local Phase 4
20 Analgesics, Non-Narcotic Phase 4
21 Antipyretics Phase 4
22
leucovorin Approved Phase 3 58-05-9 6006 143
23
Epinephrine Approved, Vet_approved Phase 2, Phase 3 51-43-4 5816
24
Racepinephrine Approved Phase 2, Phase 3 329-65-7 838
25
Estradiol Approved, Investigational, Vet_approved Phase 3 50-28-2 5757
26
Testosterone Approved, Experimental, Investigational Phase 3 58-22-0, 481-30-1 10204 6013
27
Polyestradiol phosphate Approved Phase 3 28014-46-2
28
Thiopental Approved, Vet_approved Phase 2, Phase 3 76-75-5 3000715
29
Neostigmine Approved, Vet_approved Phase 2, Phase 3 59-99-4 4456
30
Isoflurane Approved, Vet_approved Phase 2, Phase 3 26675-46-7 3763
31
Atropine Approved, Vet_approved Phase 2, Phase 3 51-55-8, 5908-99-6 174174
32
Midazolam Approved, Illicit Phase 3 59467-70-8 4192
33 Sugarcane Approved Phase 3
34
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
35
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
36
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0
37
Folic acid Approved, Nutraceutical, Vet_approved Phase 3 59-30-3 6037
38
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
39 Vitamin B Complex Phase 3
40 Folate Phase 3
41 Vitamin B9 Phase 3
42 Trace Elements Phase 3
43 Vitamins Phase 3
44 Hematinics Phase 3
45 Nutrients Phase 3
46 Micronutrients Phase 3
47 Adrenergic beta-Agonists Phase 2, Phase 3
48 Respiratory System Agents Phase 2, Phase 3
49 Vasoconstrictor Agents Phase 2, Phase 3
50 Epinephryl borate Phase 2, Phase 3

Interventional clinical trials:

(show top 50) (show all 79)
# Name Status NCT ID Phase Drugs
1 Remifentanil-dexmedetomidine Anesthesia as an Alternative Anesthetic for Elective Pediatric Surgery: a Pilot Study. Unknown status NCT02799589 Phase 4 Remifentanil;Dexmedetomidine;Ropivacaine
2 A Comparison of Effectiveness of Pudendal Nerve Block vs Caudal Block for Hypospadias Surgery in Children Completed NCT02390388 Phase 4
3 Effect of Intravenous Dexamethasone in Combination With Pudendal Nerve Block on Postoperative Pain Control in Pediatric Hypospadias Repair Completed NCT03902249 Phase 4 Dexamethasone
4 Effects of Dexmedetomidine as Adjunct to Pudendal Block for Pediatric Penile Surgery Completed NCT02848157 Phase 4 Dexmedetomidine;plain ropivacaine;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 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
7 Randomized Clinical Trial to Evaluate the Efficacy of High Dose of Folic Acid to Prevent the Occurrence of Congenital Malformations Unknown status NCT01244347 Phase 3 folic acid;folic acid
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 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
11 Expansion of Prospective Randomized Study Comparing the Polyurethane Films and Sugarcane Biopolymer Used as Dressings Completed NCT02531828 Phase 3
12 Use of 2-octylcyanoacrylate for Closure Urethrocutaneous Fistulas After Urethroplasty for Hypospadias Completed NCT02115191 Phase 3
13 Androgen Treatment in Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
14 The Effects of Dietary Cholesterol in the Smith-Lemli-Opitz Syndrome Unknown status NCT00004347 Phase 2
15 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
16 Treatment of the Cholesterol Defect in Smith-Lemli-Opitz Syndrome Completed NCT00272844 Phase 1, Phase 2 crystalline cholesterol oil-based suspension
17 Short-Term Behavioral Effects of Cholesterol Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00114634 Phase 2
18 Investigation of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome Completed NCT00064792 Phase 2 Simvastatin Susp.;OraPlus
19 Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS) Recruiting NCT01773278 Phase 2 Antioxidants;Cholesterol
20 Smith-Lemli-Opitz Syndrome: A Pilot Study of Cholic Acid Supplementation Not yet recruiting NCT03720990 Phase 1, Phase 2 Cholic Acid
21 Adjuncts to Caudal Block in Pediatrics Completed NCT03261921 Phase 1 Dexamethasone;Dexmedetomidine;Bupivacaine
22 Hypospadias and Exome: Identification of New Genes for Familial Hypospadias Unknown status NCT02495090
23 The Change of the Detrusor Thickness After Hypospadias Repair - Comparison With the Normal Control Group Unknown status NCT01762007
24 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
25 Foreskin Graft Tubularized Incised Plate Urethroplasty (TIP) vs Tubularized Incised Plate (TIP) for Primary Hypospadias. Randomized Clinical Trial (FGTIP-TIP) Unknown status NCT02497963
26 Comparison of Pudendal Nerve Block vs Caudal Block for Hypospadias Repair in Young Children: A Blinded Randomized Trial Unknown status NCT03145415
27 Effect of Mediterranean Diets Based on Organic and Conventional Foods on Health Related Physiological Parameters in Urine and Blood/Plasma Unknown status NCT03254537
28 Plastibell Versus Conventional Dissection Techniques for Circumcision in Infants Unknown status NCT02587208
29 Prophylactic Antibiotics Following Distal/Mid-shaft Hypospadias Repair: Are They Necessary? Completed NCT02593903 Septra
30 Comparison of Structural and Molecular Genetic Properties Between Normal and Hypospadic Children's Prepuces Completed NCT03838458
31 The Effect of Sevoflurane and Propofol on Oxidative Stress and Apoptosis Status in Children Undergoing Hypospadias Repair Surgery Completed NCT02711280 Sevoflurane;Propofol
32 Nalbuphine as an Adjuvant to Caudal Bupivacaine for Postoperative Analgesia in Children Undergoing Hypospadias Repair Completed NCT02618876 Nalbuphine plus Bupivacaine;Bupivacaine
33 Case-control Study of the Influence of Pesticide Exposure on the Occurrence of Hypospadias in Newborns in Picardie Completed NCT02805491
34 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
35 Long Term Outcome of Hypospadias Repair: A Comparative Study Completed NCT02103712
36 Randomized Trial of Antibiotic Prophylaxis for Prevention of Symptomatic UTI in Stented, Distal Hypospadias Repair Completed NCT03275519
37 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)
38 A Randomized Controlled Trial of Sacral Erector Spinae Block Versus Caudal Block for Postoperative Analgesia After Hypospadias Surgery in Children Completed NCT04106687
39 The Effect of Caudal Block on the Postoperative Complications in Pediatric Patients After Hypospadias Repair Completed NCT02164682
40 Decision Support for Parents Receiving Information About Child's Rare Disease Completed NCT01875640
41 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
42 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
43 Delayed Puberty in Boys; Clinical and Biochemical Characteristics and Effect of Testosterone Treatment - Retrospective Experience From a Single Tertiary Referral Centre 1990-2013 Completed NCT02034487
44 Carrier Frequency and Incidence of Smith-Lemli-Opitz Syndrome in African Americans Completed NCT00017732
45 The Feasibility of Screening for Smith-Lemli-Opitz Syndrome Completed NCT00070850
46 Comparison of Dorsal Penile Nerve Block (DPNB According to Dalens' Technique) to Dorsale Penile Nerve Block With Ventromedial Infiltration Completed NCT01974011
47 Evaluation of Tissue Regeneration Potential (in the Skin) of Child's Adipose Cells During the Development. Completed NCT02779205
48 "iRestore" Light Therapy Apparatus in the Treatment of Androgenetic Alopecia: A Randomized, Double-blind, Self-comparison, Sham Device-controlled, Multicenter Trial Completed NCT03331003
49 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Completed NCT03575377
50 Long Term Follow-up for Hypospadias. Hypospadias KOK Recruiting NCT04142632

Search NIH Clinical Center for Hypospadias

Cochrane evidence based reviews: hypospadias

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Genetic Tests for Hypospadias

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Genetic tests related to Hypospadias:

# Genetic test Affiliating Genes
1 Hypospadias 29
Sources

Anatomical Context for Hypospadias

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MalaCards organs/tissues related to Hypospadias:

40
Skin, Testis, Prostate, Testes, Heart, Small Intestine, Kidney
Sources

Publications for Hypospadias

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Articles related to Hypospadias:

(show top 50) (show all 5983)
# Title Authors PMID Year
1
Genetics of hypospadias: are single-nucleotide polymorphisms in SRD5A2, ESR1, ESR2, and ATF3 really associated with the malformation? 54 61
20215396 2010
2
[Expressions of ATF3 and CTGF and their regulation by estradiol in the prepuce of hypospadias patients]. 61 54
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. 61 54
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. 54 61
19178528 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. 54 61
18804813 2008
8
[Human chorionic gonadotrophin regulates epidermal growth factor in the phallus of hypospadias mice]. 54 61
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. 54 61
18656523 2008
10
Clinical and molecular studies of patients with characteristics of Opitz G/BBB syndrome shows a novel MID1 mutation. 61 54
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. 54 61
18001166 2007
14
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. 61 54
17656229 2007
15
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. 61 54
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]. 61 54
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. 54 61
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. 54 61
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. 54 61
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. 61 54
14675924 2003
30
The relationship between müllerian inhibiting substance and androgens in boys with hypospadias. 61 54
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. 61 54
11701709 2001
34
Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. 54 61
11331662 2001
35
Disorders linked to insufficient androgen action in male children. 54 61
11392378 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. 61 54
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. 54 61
8560668 1996
47
Maternal serum human chorionic gonadotrophin during early pregnancy resulting in boys with hypospadias or cryptorchidism. 61 54
7551854 1995
48
Steroid 5 alpha-reductase 2 deficiency. 61 54
8262007 1993
49
5 alpha-reductase deficiency without hypospadias. 61 54
2248513 1990
50
Long-term fate of the incised urethral plate in Snodgrass procedure; A real concern does exist. 61
32435593 2020
Sources

Variations for Hypospadias

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Copy number variations for Hypospadias from CNVD:

7 (show all 17)
# CNVD ID Chromosome 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
Sources

Expression for Hypospadias

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Search GEO for disease gene expression data for Hypospadias.
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Pathways for Hypospadias

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Pathways related to Hypospadias according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Metabolism of steroid hormones 65
Show member pathways
 11.4 SRD5A2 SRD5A1 HSD17B3 CYP17A1
2
Steroid hormone biosynthesis 36
Show member pathways
 11.08 SRD5A2 SRD5A1 HSD17B3 CYP17A1
3
superpathway of steroid hormone biosynthesis 1
Show member pathways
 10.27 SRD5A2 SRD5A1 HSD17B3 CYP17A1
Sources

GO Terms for Hypospadias

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Cellular components related to Hypospadias according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromatin GO:0000790 9.17 ZEB2 SRY NR5A1 HOXD13 HOXA13 ATF3
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 52)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 10.18 SRY SRD5A2 SRD5A1 NR5A1 FGF8 FGF10
2 regulation of transcription by RNA polymerase II GO:0006357 10.16 WT1 NR5A1 MAMLD1 HOXA13 ATF3 AR
3 negative regulation of transcription by RNA polymerase II GO:0000122 10.15 ZEB2 WT1 SRY FGFR2 ATF3 AR
4 positive regulation of transcription, DNA-templated GO:0045893 10.11 WT1 SRY NR5A1 FGF10 AR
5 positive regulation of cell proliferation GO:0008284 10.1 FGFR2 FGF8 FGF10 ATF3 AR
6 positive regulation of transcription by RNA polymerase II GO:0045944 10.09 ZEB2 WT1 SRY NR5A1 HOXD13 FGFR2
7 positive regulation of gene expression GO:0010628 10.04 WT1 SRY NR5A1 FGF8 ATF3 AR
8 cell-cell signaling GO:0007267 9.89 SRD5A2 INSL3 FGFR2 FGF10 AR
9 lung development GO:0030324 9.88 FGFR2 FGF8 FGF10
10 fibroblast growth factor receptor signaling pathway GO:0008543 9.85 FGFR2 FGF8 FGF10
11 epithelial cell differentiation GO:0030855 9.84 WT1 FGFR2 FGF10
12 inner ear morphogenesis GO:0042472 9.82 FGFR2 FGF8 FGF10
13 bone development GO:0060348 9.82 SRD5A1 FGFR2 FGF8
14 steroid biosynthetic process GO:0006694 9.78 SRD5A2 SRD5A1 HSD17B3 CYP17A1
15 positive regulation of Wnt signaling pathway GO:0030177 9.76 ZEB2 FGFR2 FGF10
16 embryonic digestive tract morphogenesis GO:0048557 9.71 FGFR2 FGF10
17 androgen metabolic process GO:0008209 9.71 SRD5A2 SRD5A1
18 male sex determination GO:0030238 9.7 SRY NR5A1
19 cell proliferation in forebrain GO:0021846 9.7 ZEB2 FGF8
20 gonad development GO:0008406 9.69 WT1 FGF8
21 mesonephros development GO:0001823 9.69 FGF8 FGF10
22 organ growth GO:0035265 9.69 FGFR2 FGF10
23 limb morphogenesis GO:0035108 9.69 HOXD13 FGF8 FGF10
24 limb bud formation GO:0060174 9.68 FGFR2 FGF10
25 organ induction GO:0001759 9.68 FGF8 FGF10
26 progesterone metabolic process GO:0042448 9.67 SRD5A1 CYP17A1
27 protein localization to microtubule GO:0035372 9.67 MID2 MID1
28 cellular response to testosterone stimulus GO:0071394 9.66 SRD5A1 AR
29 gland morphogenesis GO:0022612 9.65 HOXD13 FGFR2
30 reproductive structure development GO:0048608 9.65 FGFR2 AR
31 bud elongation involved in lung branching GO:0060449 9.64 FGFR2 FGF10
32 epidermis morphogenesis GO:0048730 9.63 FGFR2 FGF10
33 lacrimal gland development GO:0032808 9.63 FGFR2 FGF10
34 branching involved in salivary gland morphogenesis GO:0060445 9.63 FGFR2 FGF8 FGF10
35 male gonad development GO:0008584 9.63 WT1 SRD5A2 SRD5A1 NR5A1 MAMLD1 AR
36 testosterone biosynthetic process GO:0061370 9.62 SRD5A2 HSD17B3
37 prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis GO:0060527 9.62 HOXD13 FGFR2
38 animal organ formation GO:0048645 9.61 FGF10 AR
39 epithelial cell proliferation involved in salivary gland morphogenesis GO:0060664 9.61 FGFR2 FGF10
40 morphogenesis of an epithelial fold GO:0060571 9.6 HOXD13 AR
41 male genitalia morphogenesis GO:0048808 9.59 FGF10 AR
42 negative regulation of female gonad development GO:2000195 9.58 WT1 NR5A1
43 positive regulation of male gonad development GO:2000020 9.58 WT1 SRY NR5A1
44 mesenchymal cell differentiation involved in lung development GO:0060915 9.56 FGFR2 FGF10
45 sex differentiation GO:0007548 9.56 SRY SRD5A2 SRD5A1 CYP17A1
46 branch elongation involved in salivary gland morphogenesis GO:0060667 9.55 FGFR2 FGF10
47 mammary gland bud formation GO:0060615 9.54 FGFR2 FGF10
48 sex determination GO:0007530 9.54 WT1 SRD5A1 NR5A1
49 fibroblast growth factor receptor signaling pathway involved in mammary gland specification GO:0060595 9.52 FGFR2 FGF10
50 otic vesicle formation GO:0030916 9.5 FGFR2 FGF8 FGF10

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

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription factor activity GO:0003700 9.85 WT1 SRY NR5A1 HOXD13 ATF3 AR
2 sequence-specific DNA binding GO:0043565 9.73 ZEB2 WT1 NR5A1 HOXD13 HOXA13 AR
3 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.72 ZEB2 WT1 HOXD13 ATF3 AR
4 transcription regulatory region sequence-specific DNA binding GO:0000976 9.71 WT1 NR5A1 ATF3 AR
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.23 ZEB2 WT1 SRY NR5A1 HOXD13 HOXA13
6 cholestenone 5-alpha-reductase activity GO:0047751 9.16 SRD5A2 SRD5A1
7 3-oxo-5-alpha-steroid 4-dehydrogenase activity GO:0003865 8.96 SRD5A2 SRD5A1
Sources

Sources for Hypospadias

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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29 GTR
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70 Tocris
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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
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