MCID: HYP040
MIFTS: 59

Hypospadias malady

Reproductive diseases, Genetic diseases categories

Summaries for Hypospadias

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 hermaphroditism. 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, testis and breast, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Description from OMIM:46 300758,300633

Aliases & Classifications for Hypospadias

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8Disease Ontology, 22GTR, 10DISEASES, 44Novoseek, 42NIH Rare Diseases, 34MeSH, 60UMLS, 46OMIM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

hypospadias 8 22 10 44
familial hypospadias 8
hypospadias familial 42


External Ids:

Disease Ontology8 DOID:10892
MeSH34 D007021
ICD1025 Q54, Q54.9

Related Diseases for Hypospadias

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17GeneCards, 18GeneDecks
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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 271)
idRelated DiseaseScoreTop Affiliating Genes
1cryptorchidism30.9NR5A1, WT1, SRD5A1, SRY, AR
2hermaphroditism30.1SRY
3klinefelter's syndrome30.0NR5A1, SRD5A1, FGF8, CYP21A2, AR
4androgen insensitivity syndrome29.9SRD5A2, SRD5A1, AR, SRY
5pseudohermaphroditism29.9SRD5A2, SRY, CYP17A1, AR, WT1
6gynecomastia29.9AR, SRD5A2, CYP17A1, SRY, SRD5A1
7partial androgen insensitivity syndrome29.9AR, SRD5A1
8polydactyly29.8HOXA13, FGF8, HOXD13
9prostatitis29.6SRD5A1
10gonadal dysgenesis29.6SRY, NR5A1, WT1
11hypogonadism29.6AR, NR5A1, FGF8
1246xx sex reversal 129.6SRY, SRD5A1
13mixed gonadal dysgenesis29.6CYP21A2, SRD5A1, SRY
14hand foot uterus syndrome29.6HOXD13, HOXA13
15azoospermia29.6CYP21A2, SRY, AR, SRD5A1
16obesity29.6SRD5A1, AR, NR5A1, CYP21A2
17breast cancer29.6FGF8, SRD5A1, CYP17A1, AR, ATF3, NR5A1
18urethritis10.7
19hypospadias 2, x-linked10.4
20urethral stricture10.4
21preaxial deficiency, postaxial polydactyly and hypospadias10.2
22radial hypoplasia, triphalangeal thumbs and hypospadias10.2
235-alpha reductase deficiency10.2
24hypospadias mental retardation goldblatt type10.2
25opitz-gbbb syndrome10.2
26posterior hypospadias10.2
27opitz gbbb syndrome, type i10.2
28cleft palate10.1
29spina bifida hypospadias10.1
30hypospadias 1, x-linked10.1
31coloboma10.1
32imperforate anus10.1
33naguib-richieri-costa syndrome10.1
34hypospadias - hypertelorism - coloboma and deafness10.1
35schilbach-rott syndrome10.1
36wagr syndrome10.0
37balanitis xerotica obliterans10.0
38wolf-hirschhorn syndrome10.0
39urethral diverticulum10.0
40balanitis10.0
41sexual disorder10.0
42testicular cancer10.0
43deafness hypospadias metacarpal and metatarsal syndrome10.0
44hypotelorism cleft palate hypospadias10.0
45myopathy growth and mental retardation hypospadias10.0
46tracheophageal fistula hypospadias10.0
47myopathy - growth delay - intellectual deficit - hypospadias10.0
48tracheo-esophageal fistula - hypospadias10.0
49lower limb deficiency - hypospadias10.0
50amenorrhea10.0SRY

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to hypospadias

Clinical Features for Hypospadias

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46OMIM
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Clinical features from OMIM:

300758,300633

Drugs & Therapeutics for Hypospadias

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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22GTR
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Genetic tests related to Hypospadias:

id Genetic test Affiliating Genes
1 Hypospadias22

Anatomical Context for Hypospadias

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32MalaCards
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MalaCards organs/tissues related to Hypospadias:

32
Skin, Testis, Breast, Testes, Pituitary, Small intestine, Placenta, Prostate, Hypothalamus

Animal Models for Hypospadias or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Hypospadias:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.4WT1, ATF3, HOXD13, SRY, SRD5A1, SRD5A2
2MP:000538910.3SRD5A2, ZEB2, WT1, AR, NR5A1, MAMLD1
3MP:000538010.3ZEB2, WT1, AR, NR5A1, MID1, HOXD13
4MP:000537810.3WT1, AR, NR5A1, MID1, HOXD13, HOXA13
5MP:001076810.1ZEB2, WT1, AR, NR5A1, MID1, CYP17A1
6MP:000536710.0WT1, AR, HOXD13, HOXA13, FGF10, FGF8

Publications for Hypospadias

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50PubMed
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Articles related to Hypospadias:

(show top 50)    (show all 686)
idTitleAuthorsYear
1
Re: risk factors for different phenotypes of hypospadias: results from a dutch case-control study. (24411901)
2014
2
Inclusion and exclusion criteria to overcome bias and reach a valid conclusion for interpositional flap coverage in primary hypospadias repair with tubularized incised plate urethroplasty. (22868318)
2013
3
Comparison of distal hypospadias repair in circumcised patients and uncircumcised patients. (23533816)
2013
4
Using the parents' video camera for the follow-up of children who have undergone hypospadias surgery decreases hospital anxiety of children. (24210208)
2013
5
Medium to long term results following single stage Snodgrass hypospadias repair. (23860496)
2013
6
Commentary to 'Urethral strictures following urethral plate and proximal urethral elevation during proximal TIP hypospadias repair'. (23791856)
2013
7
Paediatrics: In it for the long-haul--caring for patients treated for hypospadias. (23358520)
2013
8
A comparative study of the use of a transverse preputial island flap (the Duckett technique) to treat primary and secondary hypospadias in older Chinese patients with severe chordee. (23179731)
2013
9
Penile length is comparable in boys with and without hypospadias. (22030456)
2012
10
A nested case-control study of intrauterine exposure to persistent organochlorine pollutants and the risk of hypospadias. (23028613)
2012
11
Surgical Repair of Late Complications in Patients Having Undergone Primary Hypospadias Repair during Childhood: A New Perspective. (22567003)
2012
12
Neonatal phytoestrogen exposure causes hypospadias in female mice. (21990138)
2012
13
Nutritional factors and hypospadias risks. (22686387)
2012
14
Time trends and geographic variations in the prevalence of hypospadias in China. (21960504)
2012
15
Re: Tubularized incised plate proximal hypospadias repair: continued evolution and extended applications. (21306956)
2011
16
Management of recurrent urethral strictures after hypospadias repair: is there a role for repeat dilation or endoscopic incision? (20462798)
2011
17
Urethral stricture in adult as a consequence of childhood hypospadias repair. (21954535)
2011
18
No association between maternal pre-pregnancy obesity and risk of hypospadias or cryptorchidism in male newborns. (21462299)
2011
19
Onlay on albuginea: modified onlay preputial island flap urethroplasty for single-stage repair of primary severe hypospadias requiring urethral plate division. (21185590)
2011
20
Theriogenology question of the month. Hypospadias. (22044324)
2011
21
Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias. (22028768)
2011
22
Long-term outcome of pituitary-gonadal axis and gonadal growth in patients with hypospadias at puberty. (20728133)
2010
23
Double Y glanuloplasty for glanular hypospadias. (20223339)
2010
24
Overnight urethral stenting after tubularized incised plate urethroplasty for distal hypospadias. (20419376)
2010
25
Enterococcus faecalis cellulitis/fasciitis after hypospadias surgery. (20156646)
2010
26
Familial coaggregation of cryptorchidism and hypospadias. (19901839)
2010
27
Urinary tract anomalies in children with hypospadias. (20734052)
2010
28
Outcome of pediatric hypospadias repair in adulthood. (24198614)
2010
29
Midterm outcome of the modified Bretteville technique for hypospadias reconstruction. (19158007)
2009
30
Is tubularization of the mobilized urethral plate a better alternative to tubularization of an incised urethral plate for hypospadias repair? (19096854)
2009
31
Endocrine disruptors in the workplace, hair spray, folate supplementation, and risk of hypospadias: case-control study. (19270804)
2009
32
Is there an ideal age for hypospadias repair? A pilot study. (19186110)
2009
33
Analysis of five-year experience with tubularized incised plate urethroplasty for anterior and mid penile hypospadias. (19360542)
2009
34
The Wiedemann-Rautenstrauch or neonatal progeroid syndrome: report of a patient with hypospadias. (20162872)
2009
35
Adult urethral stricture disease after childhood hypospadias repair. (19009025)
2008
36
Repair of hypospadias with severe chordee using a long, wide, U-shaped flap that preserves ventral penile tissues intact for second-stage urethroplasty. (19040948)
2008
37
The incidence of disorders of sexual differentiation and chromosomal abnormalities of cryptorchidism and hypospadias stratified by meatal location. (18951572)
2008
38
Association of hypospadias with hypoplastic synpolydactyly and role of HOXD13 gene mutations. (17656229)
2007
39
Small intestinal submucosa for corporeal body grafting in severe hypospadias requiring division of the urethral plate. (17707020)
2007
40
Genitourinary anomalies in Mowat-Wilson syndrome with deletion/mutation in the zinc finger homeo box 1B gene (ZFHX1B). Report of three Italian cases with hypospadias and review. (15908750)
2005
41
Molecular study of the 3 beta-hydroxysteroid dehydrogenase gene type II in patients with hypospadias. (14764821)
2004
42
Linkage between cryptorchidism, hypospadias, and GGN repeat length in the androgen receptor gene. (15472213)
2004
43
Management of severe hypospadias using Glassberg's modification of the Duckett repair. (11849172)
2002
44
Bilateral Wilms tumor in a boy with severe hypospadias and cryptochidism due to a heterozygous mutation in the WT1 gene. (10022588)
1999
45
A combined tubularized/onlay graft technique for total correction of severe hypospadias. (10392920)
1999
46
Management of severe hypospadias with a 2-stage repair. (8022010)
1994
47
Surgical correction of incomplete penoscrotal transposition associated with hypospadias. (3511215)
1986
48
Brief Clinical Report: coloboma hypospadias. (7246606)
1981
49
Transverse preputial island flap technique for repair of severe hypospadias. (7404875)
1980
50
Familial incomplete male pseudohermaphroditism, type 2. Decreased dihydrotestosterone formation in pseudovaginal perineoscrotal hypospadias. (4413434)
1974

Genetic Variations for Hypospadias

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Expression for genes affiliated with Hypospadias

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 37NCBI BioSystems Database, 12EMD Millipore, 29KEGG
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Pathways related to Hypospadias according to GeneCards/GeneDecks:

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

Compounds for genes affiliated with Hypospadias

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 24HMDB, 49PharmGKB, 28IUPHAR, 2BitterDB
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Compounds related to Hypospadias according to GeneCards/GeneDecks:

(show top 50)    (show all 67)
idCompoundScoreTop Affiliating Genes
1dmrt4410.8WT1, NR5A1, SRY
2dutasteride44 1111.8SRD5A1, SRD5A2, AR
3estrogen4410.8NR5A1, SRD5A1
4deoxyribonucleic acid4410.8SRY, CYP21A2, WT1, SRD5A2
5finasteride44 59 11 2413.8SRD5A2, AR, SRD5A1
6boldenone44 1111.8AR, SRD5A1
7exemestane49 44 59 1113.8AR, CYP17A1, SRD5A1
8doca4410.8CYP17A1, CYP21A2, SRD5A1
9androstenedione44 2411.8CYP21A2, SRD5A2, AR, CYP17A1, SRD5A1
10ketoconazole44 28 11 2413.8SRD5A1, AR, CYP17A1, CYP21A2
11dehydroepiandrosterone sulfate4410.8AR, NR5A1, CYP21A2, SRD5A1, CYP17A1
12dhea4410.8NR5A1, CYP17A1, CYP21A2, SRD5A1, AR
13abiraterone acetate4410.8AR, CYP17A1
143beta-hydroxysteroid4410.8CYP21A2, SRD5A2, SRD5A1, CYP17A1, NR5A1, AR
15dihydrotestosterone44 28 11 2413.8CYP17A1, AR, CYP21A2, SRY, SRD5A1, SRD5A2
1617beta-hydroxysteroid4410.8SRD5A2, SRD5A1, CYP21A2, CYP17A1, NR5A1, AR
17pregnanediol4410.8CYP17A1, CYP21A2
18hydroxysteroid4410.8NR5A1, SRD5A1, CYP17A1
19es 9365910.8SRD5A2, SRD5A1
20vitamin d4410.8WT1, NR5A1, CYP17A1, SRD5A1, SRD5A2, AR
21spironolactone49 44 59 28 1114.7CYP21A2, SRD5A1, AR
2217-hydroxyprogesterone44 2411.7CYP21A2, CYP17A1, SRD5A1
23estrone44 28 11 2413.7AR, NR5A1, SRD5A1, CYP17A1
24ribonucleic acid4410.7CYP21A2, SRD5A2, WT1, NR5A1, CYP17A1
25estradiol44 11 2412.7CYP17A1, AR, NR5A1, CYP21A2, SRY, SRD5A1
26gnrh4410.7AR, NR5A1, CYP21A2, CYP17A1, SRD5A1
27pygeum4410.7AR, SRD5A1
28adenine44 11 2412.7SRD5A2, SRY, WT1, AR
29steroidal4410.7SRD5A1, AR, CYP17A1
30progesterone44 59 28 11 2414.7WT1, AR, CYP17A1, NR5A1, CYP21A2, SRD5A1
31leucine4410.7SRD5A2, SRY, CYP21A2, ATF3, CYP17A1, NR5A1
32steroid4410.7CYP21A2, SRD5A1, SRY, CYP17A1, NR5A1, AR
3311beta-hydroxysteroid4410.7CYP17A1, CYP21A2, SRD5A1
34retinoic acid44 2411.7ATF3, AR, WT1, NR5A1, CYP17A1, FGF10
35diethylstilbestrol44 28 1112.7CYP17A1, AR, NR5A1
36enterolactone4410.7CYP17A1, SRD5A1
37testosterone44 59 11 2413.7WT1, SRD5A1, SRY, FGF8, FGF10, CYP21A2
385,16-androstadien-3beta-ol4410.7CYP17A1, SRD5A1
3921-deoxycortisol44 2411.6CYP17A1, CYP21A2
40forskolin44 49 1112.6NR5A1, CYP17A1, CYP21A2, FGF8, WT1
41oligonucleotide4410.6WT1, ATF3, NR5A1, SRY, CYP21A2, CYP17A1
42valine4410.6AR, CYP21A2, SRD5A2, CYP17A1
43Pregnenolone11 2411.6CYP17A1, CYP21A2
44zinc44 2411.5ZEB2, WT1, SRY, CYP17A1, FGF8, NR5A1
45norgestimate44 1111.5SRD5A1, AR
46threonine4410.4CYP21A2, ATF3, CYP17A1, SRD5A2, NR5A1, WT1
475alpha-dihydroprogesterone4410.4SRD5A1, SRD5A2
48chloramphenicol44 2 1112.4CYP17A1, WT1, CYP21A2, AR
49androstenediol4410.3SRD5A1, AR
50pcb 1264410.1CYP21A2, CYP17A1

GO Terms for genes affiliated with Hypospadias

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16Gene Ontology
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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:03053910.7HOXA13, WT1, FGF8, HOXD13
3androgen biosynthetic processGO:00670210.7CYP17A1, SRD5A1, SRD5A2
4regulation of prostatic bud formationGO:06068510.7FGF10, AR
5male gonad developmentGO:00858410.7NR5A1, WT1, SRD5A2, SRY, MAMLD1, AR
6negative regulation of female gonad developmentGO:200019510.7NR5A1, WT1
7sex differentiationGO:00754810.7AR, CYP17A1, SRD5A1
8adrenal gland developmentGO:03032510.7WT1, CYP17A1, NR5A1
9male genitalia morphogenesisGO:04880810.7FGF10, AR
10steroid metabolic processGO:00820210.7CYP17A1, CYP21A2, SRD5A1, SRD5A2
11morphogenesis of an epithelial foldGO:06057110.7HOXD13, AR
12sex determinationGO:00753010.6SRD5A1, WT1
13glucocorticoid biosynthetic processGO:00670410.6CYP21A2, CYP17A1
14otic vesicle formationGO:03091610.6FGF8, FGF10
15cell proliferation in forebrainGO:02184610.6FGF8, ZEB2
16cellular response to gonadotropin stimulusGO:07137110.5CYP17A1, WT1
17mesonephros developmentGO:00182310.5FGF10, FGF8
18organ inductionGO:00175910.4FGF10, FGF8
19positive regulation of transcription from RNA polymerase II promoterGO:04594410.4AR, HOXD13, HOXA13, FGF10, NR5A1
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
13-oxo-5-alpha-steroid 4-dehydrogenase activityGO:00386510.4SRD5A2, SRD5A1
2sequence-specific DNA bindingGO:04356510.4HOXA13, HOXD13, NR5A1, ATF3, AR, WT1
3sequence-specific DNA binding transcription factor activityGO:00370010.3ZEB2, WT1, AR, ATF3, HOXD13, HOXA13
4cholestenone 5-alpha-reductase activityGO:04775110.3SRD5A2, SRD5A1
5type 2 fibroblast growth factor receptor bindingGO:00511110.1FGF10, FGF8

Products for genes affiliated with Hypospadias

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Sources for Hypospadias

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet