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, 42NIH Rare Diseases, 22GTR, 10DISEASES, 44Novoseek, 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
Uroradiological screening for upper and lower urinary tract anomalies in patients with hypospadias: a systematic literature review. (22815315)
2013
2
Hormone therapy in hypospadias surgery: a systematic review. (23602841)
2013
3
Association between organic dietary choice during pregnancy and hypospadias in offspring: a study of mothers of 306 boys operated on for hypospadias. (23036983)
2013
4
Failed hypospadias in paediatric patients. (23917119)
2013
5
Hypospadias surgery and locoregional anesthesia: vice or vertue? (23216937)
2013
6
Two-Stage Repair for Severe Proximal Hypospadias Using Oral Mucosal Grafts: Combination of a Modified Bracka Method and a Modified Byars Flap Method. (23759975)
2013
7
Objective and subjective sexual outcomes in adult patients after hypospadias repair performed in childhood. (23306088)
2013
8
Postpubertal examination after hypospadias repair is necessary to evaluate the success of the primary reconstruction. (23444069)
2013
9
Age-related structural changes of the urethral plate in hypospadias. (23706383)
2013
10
The GMS hypospadias score: assessment of inter-observer reliability and correlation with post-operative complications. (23683961)
2013
11
Evaluation of distally folded onlay flap in repair of distal penile hypospadias. (20889383)
2012
12
Risk factors for the development of urethrocutaneous fistula after hypospadias repair: a retrospective study. (23136632)
2012
13
The forked flap repair for hypospadias: The reality away from ideality. (23450925)
2012
14
Exploration of gene-environment interactions, maternal effects and parent of origin effects in the etiology of hypospadias. (23088992)
2012
15
Outcomes in distal hypospadias: a systematic review of the Mathieu and tubularized incised plate repairs. (21159560)
2012
16
Re: Outcome analysis of tubularized incised urethral plate using dorsal dartos flap for proximal penile hypospadias repair. (22153474)
2012
17
Hypospadias: interactions between environment and genetics. (21256920)
2011
18
The Cleveland Clinic experience with adult hypospadias patients undergoing repair: their presentation and a new classification system. (21438977)
2011
19
Multicentric experience on double dartos flap protection in tubularized incised plate urethroplasty for distal and midpenile hypospadias. (21935592)
2011
20
Trends in the incidence of cryptorchidism and hypospadias of registry-based data in Korea: a comparison between industrialized areas of petrochemical estates and a non-industrialized area. (20729869)
2011
21
Surgery: managing urethral strictures after hypospadias repair. (21660072)
2011
22
A new use of scrotal septal skin flap in repairing hypospadias. (21407073)
2011
23
Modified Byars' flaps for securing skin closure in proximal and mid-penile hypospadias. (22164194)
2011
24
Hypospadias: a 30-year personal journey. (22182846)
2011
25
Urethroscopic holmium:YAG laser epilation of urethral diverticular hair follicles following hypospadias repair. (20970385)
2011
26
Preputial reconstruction and tubularized incised plate urethroplasty in proximal hypospadias with ventral penile curvature. (21369381)
2010
27
Combination of tubularized island flap and ventral skin flap techniques in single-stage correction of severe proximal hypospadias. (20389154)
2010
28
Long-term outcome of severe hypospadias. (20053585)
2010
29
Genetic polymorphisms of 17 I^-hydroxysteroid dehydrogenase 3 and the risk of hypospadias. (20059664)
2010
30
Long-term followup of hypospadias: functional and cosmetic results. (19692042)
2009
31
Repair of distal hypospadias and preputioplasty in one operation. Risks and advantages. (19322007)
2009
32
Straightening ventral curvature while preserving the urethral plate in proximal hypospadias repair. (19692004)
2009
33
A novel homozygous mutation in CYP11A1 gene is associated with late- onset adrenal insufficiency and hypospadias in a 46,XY patient. (19116240)
2009
34
Versatility of tubularized incised plate urethroplasty in the management of different types of hypospadias: 5-year experience. (19661637)
2009
35
Hypospadias and intake of nutrients related to one-carbon metabolism. (19013591)
2009
36
Genomic variants of ATF3 in patients with hypospadias. (18804813)
2008
37
Hypospadias from the perspective of a single-surgeon practice in Malaysia. (19803297)
2008
38
Placental insufficiency in early gestation is associated with hypospadias. (18280290)
2008
39
FGFR2, FGF8, FGF10 and BMP7 as candidate genes for hypospadias. (17264867)
2007
40
Maternal and paternal risk factors for cryptorchidism and hypospadias: a case-control study in newborn boys. (15531444)
2004
41
Lack of defects in androgen production in children with hypospadias. (15181062)
2004
42
Marzouk skin tag two-stage urethroplasty for the repair of complex cases of hypospadias. (14678181)
2004
43
Reconstruction of hypospadias and epispadias with buccal mucosa free graft as primary surgery: more than 10 years of experience. (14501671)
2003
44
Split hand/split foot, iris/choroid coloboma, hypospadias and subfertility: a new developmental malformation syndrome? (12401986)
2002
45
Congenital contractural arachnodactyly (Beals syndrome): first case report with hypospadias. (12522281)
2002
46
Severe hypospadias repair with meatal based paracoronal skin flap: the modified Koyanagi repair. (11490297)
2001
47
Hypospadias and the androgen receptor gene: mutation screening and CAG repeat length analysis. (11331662)
2001
48
Penoscrotal inversion, hypospadias, imperforate anus, facial anomalies, and developmental delay: definition of a new clinical syndrome. (10955572)
2000
49
Klinefelter's syndrome with hypospadias and bilateral cryptorchidism. (2904716)
1988
50
True hermaphroditism discovered 10 years after hypospadias repair: report of 2 cases. (4382251)
1967

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
210.4CYP21A2, CYP17A1
3
Transcription Androgen Receptor nuclear signaling
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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

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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:03053910.7WT1, 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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  • Antibodies
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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