MCID: HYP040
MIFTS: 56

Hypospadias malady

Reproductive, Genetic categories

Summaries for Hypospadias

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Hypospadias /haɪpoʊˈspeɪdɪəs/ is a birth defect of the urethra in the male that involves an... more...

MalaCards: Hypospadias, also known as familial hypospadias, is related to cryptorchidism and klinefelter's syndrome. An important gene associated with Hypospadias is SRD5A2 (steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)), and among its related pathways are Mineralocorticoid biosynthesis and Endogenous sterols. The compounds dmrt and dutasteride have been mentioned in the context of this disorder. Affiliated tissues include skin, small intestine and breast, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Description from OMIM:47 300758,300633

Aliases & Classifications for Hypospadias

Sources:
8Disease Ontology, 43NIH Rare Diseases, 22GTR, 10DISEASES, 45Novoseek, 35MeSH, 61UMLS, 47OMIM, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Reproductive


Aliases & Descriptions:

hypospadias 8 22 10 45
familial hypospadias 8
hypospadias familial 43


External Ids:

Disease Ontology8 DOID:10892
MeSH35 D007021
ICD1025 Q54, Q54.9

Related Diseases for Hypospadias

Sources:
17GeneCards, 18GeneDecks
See all sources

Diseases in the Hypospadias family:

posterior hypospadias

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

(show top 50)    (show all 286)
idRelated DiseaseScoreTop Affiliating Genes
1cryptorchidism30.9WT1, AR, NR5A1, SRY, SRD5A1
2klinefelter's syndrome30.1AR, NR5A1, CYP21A2, FGF8, SRD5A1
3partial androgen insensitivity syndrome30.0SRD5A1, AR
4androgen insensitivity syndrome29.9AR, SRY, SRD5A1, SRD5A2
5gynecomastia29.9AR, CYP17A1, SRY, SRD5A1, SRD5A2
6short stature29.9CYP21A2, SRY
7wilms tumor29.9WT1, NR5A1, SRY, SRD5A1
8conn's syndrome29.9CYP17A1, CYP21A2
9polydactyly29.9FGF8, HOXA13, HOXD13
1046xx sex reversal 129.7SRD5A1, SRY
11mixed gonadal dysgenesis29.7CYP21A2, SRY, SRD5A1
12hand foot uterus syndrome29.7HOXD13, HOXA13
13azoospermia29.7AR, CYP21A2, SRY, SRD5A1
14urethral stricture10.4
15epispadias10.3
16penoscrotal transposition10.3
17preaxial deficiency, postaxial polydactyly and hypospadias10.3
18radial hypoplasia, triphalangeal thumbs and hypospadias10.3
195-alpha reductase deficiency10.2
20hypospadias mental retardation goldblatt type10.2
21opitz-gbbb syndrome10.2
22hypospadias 2, x-linked10.2
23opitz gbbb syndrome, type i10.2
24posterior hypospadias10.2
25cleft palate10.1
26hypotelorism cleft palate hypospadias10.1
27spina bifida hypospadias10.1
28hypospadias 1, x-linked10.1
29schilbach-rott syndrome10.1
30coloboma10.1
31imperforate anus10.1
32naguib-richieri-costa syndrome10.1
33hypospadias - hypertelorism - coloboma and deafness10.1
34wagr syndrome10.0
35balanitis xerotica obliterans10.0
36wolf-hirschhorn syndrome10.0
37urethral diverticulum10.0
38n syndrome10.0
39balanitis10.0
40testicular cancer10.0
41deafness hypospadias metacarpal and metatarsal syndrome10.0
42myopathy growth and mental retardation hypospadias10.0
43tracheophageal fistula hypospadias10.0
44myopathy - growth delay - intellectual deficit - hypospadias10.0
45tracheo-esophageal fistula - hypospadias10.0
46lower limb deficiency - hypospadias10.0
47amenorrhea10.0SRY
48sertoli-leydig cell tumor10.0WT1
49prostatitis10.0SRD5A1
50prostatic hypertrophy10.0AR

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to hypospadias

Clinical Features for Hypospadias

Sources:
47OMIM
See all sources

Clinical features from OMIM:

300758,300633

Drugs & Therapeutics for Hypospadias

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Hypospadias

Drug clinical trials:

Search ClinicalTrials for Hypospadias

Search NIH Clinical Center for Hypospadias

Search CenterWatch for Hypospadias

Genetic Tests for Hypospadias

Sources:
22GTR
See all sources

Genetic tests related to Hypospadias:

id Genetic test Affiliating Genes
1 Hypospadias22

Anatomical Context for Hypospadias

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Hypospadias:

33
Skin, Small intestine, Breast, Placenta, Prostate, Testis, T cells, B cells, Hypothalamus, Pituitary, Testis germ

Animal Models for Hypospadias or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hypospadias

Sources:
51PubMed
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Articles related to Hypospadias:

(show top 50)    (show all 681)
idTitleAuthorsYear
1
Re: observational retrospective study on acquired megalourethra after primary proximal hypospadias repair and its recurrence after tapering. (24411903)
2014
2
Objective use of testosterone reveals androgen insensitivity in patients with proximal hypospadias. (23962431)
2013
3
Urethral plate grafting improves the results of tubularized incised plate urethroplasty in primary hypospadias. (24360521)
2013
4
Association of a tagging single nucleotide polymorphism in the androgen receptor gene region with susceptibility to severe hypospadias in a caucasian population. (23571770)
2013
5
Using the parents' video camera for the follow-up of children who have undergone hypospadias surgery decreases hospital anxiety of children. (24210208)
2013
6
Medium to long term results following single stage Snodgrass hypospadias repair. (23860496)
2013
7
Cumulative summation (CUSUM) charts in the monitoring of hypospadias outcomes: A tool for quality improvement initiative. (24290222)
2013
8
Predictors of secondary surgery after hypospadias repair: a population based analysis of 5,000 patients. (23376710)
2013
9
The need for additional procedures in patients undergoing proximal hypospadias repairs as reported in the pediatric health information system database. (23434940)
2013
10
A new surgical stabilizing instrument for hypospadias repair. (22926693)
2013
11
Correction of problematic hypospadias with dartos fascia-reinforced flap and slanted incision of fistula. (24286052)
2013
12
Hypospadias and maternal intake of phytoestrogens. (23752918)
2013
13
Single-nucleotide polymorphisms of MAMLD1 and hypospadias in Chinese]. (22934520)
2012
14
Neonatal phytoestrogen exposure causes hypospadias in female mice. (21990138)
2012
15
Long-term urethral function measured by uroflowmetry after hypospadias surgery: comparison with an age matched control. (22906660)
2012
16
Androgen receptor CAG and GGN polymorphisms in boys with isolated hypospadias. (22570967)
2012
17
Urethral hairballs as a long-term complication of hypospadias repair: two case reports. (22924153)
2012
18
Brothers with hypospadias, vertebral segmentation defects, and intellectual disability: new syndrome? (23166036)
2012
19
Online hypospadias support group data analysis. (21376203)
2011
20
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. (21326312)
2011
21
Polymorphisms in the P450 c17 (17-hydroxylase/17, 20-Lyase) gene: association with estradiol and testosterone concentration in hypospadias. (21676446)
2011
22
Evidence for epigenetic abnormalities of the androgen receptor gene in foreskin from children with hypospadias. (21937623)
2011
23
"Hanging" of the buccal mucosal graft for urethral stricture repair after failed hypospadias. (21527203)
2011
24
Comparing caudal and penile nerve blockade using bupivacaine in hypospadias repair surgeries in children. (22248893)
2011
25
Resultant hypospadias after epispadias repair in bladder exstrophy patients: a difficult surgical task with high complication rate. (22008335)
2011
26
Trends in hypospadias surgery: results of a worldwide survey. (21871708)
2011
27
Functional, cosmetic and psychosexual results in adult men who underwent hypospadias correction in childhood. (21429804)
2011
28
Rising hypospadias rates: disproving a myth. (20022563)
2010
29
Hemostasis during hypospadias surgery via topical application of feracrylum citrate: A randomized prospective study. (21124661)
2010
30
Enterococcus faecalis cellulitis/fasciitis after hypospadias surgery. (20156646)
2010
31
Comparison of perimeatal-based flap and tubularized incised plate urethroplasty combined with single- or double-layer dartos flap in distal hypospadias. (20389153)
2010
32
Is statistical significance sufficient? Importance of interaction and confounding in hypospadias analysis. (20961580)
2010
33
Factors predicting success in hypospadias repair using preputial flap with limited pedicle mobilization (Asopa procedure). (20381843)
2010
34
Repair of extensive perineal hypospadias in a Boston terrier using tubularized incised plate urethroplasty. (19949553)
2009
35
Use of the processus vaginalis: A new technique for reinforcing the neourethra in hypospadias associated with undescended testis. (19672367)
2009
36
Is there an ideal age for hypospadias repair? A pilot study. (19186110)
2009
37
Algorithm for comprehensive approach to hypospadias reoperation using 3 techniques. (19846161)
2009
38
The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. (18951572)
2008
39
Management of urethral diverticulum complicating hypospadias repair. (18947541)
2005
40
Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. (14764821)
2004
41
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity. (12546710)
2003
42
A strategy for repairing moderately severe hypospadias using onlay urethroplasty versus onlay-tube-onlay urethroplasty. (12736028)
2003
43
Tissue expander enhanced onlay island flap in the repair of severe hypospadias. (12544318)
2003
44
Skin graft for 2-stage treatment of severe hypospadias: back to the future? (12352346)
2002
45
The Koyanagi-Nonomura 1-stage bucket repair of severe hypospadias with and without penoscrotal transposition. (9719286)
1998
46
Macrocephaly, hypospadias grade III-IV, and fragile X-like behavior in identical twins without involvement of the FMR-1 gene. (8897045)
1996
47
Management of severe hypospadias with a 2-stage repair. (8022010)
1994
48
Further experience with one-stage repair of severe hypospadias and scrotal transposition. Modifications in the technique and its result in eight cases. (3384611)
1988
49
Female hypospadias associated with unilateral renal agenesis and genital malformations. A case report. (5566106)
1971
50
A new application for transvaginal plication in the treatment of girls with total urinary incontinence due to epispadias or hypospadias. (4906204)
1969

Genetic Variations for Hypospadias

Expression for genes affiliated with Hypospadias

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Hypospadias

Search GEO for disease gene expression data for Hypospadias.

Pathways for genes affiliated with Hypospadias

Sources:
54Reactome, 38NCBI BioSystems Database, 12EMD Millipore, 30KEGG
See all sources

Pathways related to Hypospadias according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.4CYP21A2, CYP17A1
210.4CYP21A2, CYP17A1
3
Transcription Androgen Receptor nuclear signaling
Hide members
10.4SRD5A2, SRD5A1, AR
4
Hide members
10.4SRD5A2, SRD5A1, CYP17A1
5
Hide members
10.4AR, FGF10, FGF8, SRD5A2
6
Hide members
10.4SRD5A2, SRD5A1, CYP21A2, CYP17A1

Compounds for genes affiliated with Hypospadias

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 24HMDB, 50PharmGKB, 29IUPHAR, 2BitterDB
See all sources

Compounds related to Hypospadias according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idCompoundScoreTop Affiliating Genes
1dmrt4510.8SRY, NR5A1, WT1
2dutasteride45 1111.8AR, SRD5A1, SRD5A2
3estrogen4510.8SRD5A1, NR5A1
4deoxyribonucleic acid4510.8WT1, CYP21A2, SRY, SRD5A2
5finasteride45 60 11 2413.8SRD5A2, SRD5A1, AR
6boldenone45 1111.8SRD5A1, AR
7exemestane50 45 60 1113.8AR, CYP17A1, SRD5A1
8doca4510.8SRD5A1, CYP21A2, CYP17A1
9androstenedione45 2411.8AR, CYP17A1, CYP21A2, SRD5A1, SRD5A2
10ketoconazole45 29 11 2413.8AR, CYP17A1, CYP21A2, SRD5A1
11abiraterone acetate4510.8AR, CYP17A1
12dehydroepiandrosterone sulfate4510.8AR, NR5A1, CYP17A1, CYP21A2, SRD5A1
13dhea4510.8AR, NR5A1, CYP17A1, CYP21A2, SRD5A1
143beta-hydroxysteroid4510.8AR, NR5A1, CYP17A1, CYP21A2, SRD5A1, SRD5A2
15dihydrotestosterone45 29 11 2413.8AR, CYP17A1, CYP21A2, SRY, SRD5A1, SRD5A2
1617beta-hydroxysteroid4510.8AR, NR5A1, CYP17A1, CYP21A2, SRD5A1, SRD5A2
17hydroxysteroid4510.8SRD5A1, CYP17A1, NR5A1
18es 9366010.8SRD5A1, SRD5A2
19pregnanediol4510.8CYP17A1, CYP21A2
20vitamin d4510.8SRD5A2, SRD5A1, CYP17A1, NR5A1, AR, WT1
21spironolactone50 45 60 29 1114.7SRD5A1, CYP21A2, AR
2217-hydroxyprogesterone45 2411.7CYP17A1, CYP21A2, SRD5A1
23estrone45 29 11 2413.7AR, NR5A1, CYP17A1, SRD5A1
24ribonucleic acid4510.7WT1, NR5A1, CYP17A1, CYP21A2, SRD5A2
25estradiol45 11 2412.7AR, NR5A1, CYP17A1, CYP21A2, SRY, SRD5A1
26gnrh4510.7AR, NR5A1, CYP17A1, CYP21A2, SRD5A1
27pygeum4510.7SRD5A1, AR
28adenine45 11 2412.7WT1, AR, SRY, SRD5A2
29steroidal4510.7SRD5A1, CYP17A1, AR
30progesterone45 60 29 11 2414.7WT1, AR, NR5A1, CYP17A1, CYP21A2, SRD5A1
31leucine4510.7ATF3, NR5A1, CYP17A1, CYP21A2, SRY, SRD5A2
32steroid4510.7WT1, AR, NR5A1, CYP17A1, CYP21A2, SRY
3311beta-hydroxysteroid4510.7CYP17A1, CYP21A2, SRD5A1
34retinoic acid45 2411.7WT1, AR, ATF3, NR5A1, CYP17A1, FGF10
35diethylstilbestrol45 29 1112.7AR, NR5A1, CYP17A1
36enterolactone4510.7SRD5A1, CYP17A1
37testosterone45 60 11 2413.7SRD5A2, WT1, AR, ATF3, NR5A1, CYP17A1
385,16-androstadien-3beta-ol4510.7SRD5A1, CYP17A1
3921-deoxycortisol45 2411.6CYP21A2, CYP17A1
40forskolin45 50 1112.6FGF8, CYP21A2, CYP17A1, NR5A1, WT1
41oligonucleotide4510.6WT1, ATF3, NR5A1, CYP17A1, CYP21A2, SRY
42valine4510.6AR, CYP17A1, CYP21A2, SRD5A2
43Pregnenolone11 2411.6CYP21A2, CYP17A1
44zinc45 2411.5ZEB2, WT1, NR5A1, CYP17A1, FGF8, SRY
45norgestimate45 1111.5AR, SRD5A1
46threonine4510.4WT1, ATF3, NR5A1, CYP17A1, CYP21A2, SRD5A2
475alpha-dihydroprogesterone4510.4SRD5A1, SRD5A2
48chloramphenicol45 2 1112.4CYP21A2, CYP17A1, AR, WT1
49pcb 1264510.3CYP21A2, CYP17A1
50androstenediol4510.1AR, SRD5A1

GO Terms for genes affiliated with Hypospadias

Sources:
16Gene Ontology
See all sources

Biological processes related to Hypospadias according to GeneCards/GeneDecks:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:200002010.7SRY, NR5A1, WT1
2male genitalia developmentGO:03053910.7WT1, HOXD13, HOXA13, FGF8
3androgen biosynthetic processGO:00670210.7CYP17A1, SRD5A1, SRD5A2
4negative regulation of female gonad developmentGO:200019510.7WT1, NR5A1
5male gonad developmentGO:00858410.7SRD5A2, SRY, MAMLD1, NR5A1, AR, WT1
6regulation of prostatic bud formationGO:06068510.7AR, FGF10
7sex differentiationGO:00754810.7AR, CYP17A1, SRD5A1
8adrenal gland developmentGO:03032510.7CYP17A1, NR5A1, WT1
9male genitalia morphogenesisGO:04880810.7FGF10, AR
10steroid metabolic processGO:00820210.7SRD5A2, SRD5A1, CYP21A2, CYP17A1
11morphogenesis of an epithelial foldGO:06057110.7HOXD13, AR
12otic vesicle formationGO:03091610.6FGF10, FGF8
13sex determinationGO:00753010.6WT1, SRD5A1
14glucocorticoid biosynthetic processGO:00670410.6CYP17A1, CYP21A2
15cell proliferation in forebrainGO:02184610.6FGF8, ZEB2
16cellular response to gonadotropin stimulusGO:07137110.5WT1, CYP17A1
17mesonephros developmentGO:00182310.5FGF10, FGF8
18organ inductionGO:00175910.4FGF8, FGF10
19positive regulation of transcription from RNA polymerase II promoterGO:04594410.4FGF10, HOXA13, HOXD13, NR5A1, AR
20sterol metabolic processGO:01612510.3CYP21A2, CYP17A1
21thyroid gland developmentGO:03087810.1FGF10, FGF8

Molecular functions related to Hypospadias according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cholestenone 5-alpha-reductase activityGO:04775110.4SRD5A1, SRD5A2
2sequence-specific DNA bindingGO:04356510.4HOXA13, HOXD13, NR5A1, ATF3, AR, WT1
3sequence-specific DNA binding transcription factor activityGO:00370010.3WT1, AR, ATF3, HOXD13, HOXA13, ZEB2
43-oxo-5-alpha-steroid 4-dehydrogenase activityGO:00386510.3SRD5A1, SRD5A2
5type 2 fibroblast growth factor receptor bindingGO:00511110.1FGF8, FGF10

Products for genes affiliated with Hypospadias

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Sources for Hypospadias

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet