MCID: HYP040
MIFTS: 55

Hypospadias malady

Genetic diseases, Rare diseases, Reproductive diseases, Fetal diseases categories
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Summaries for Hypospadias

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Wikipedia:65 Hypospadias /ha?po??spe?d??s/ is a birth defect of the urethra in males and females that involves an... more...

MalaCards based summary: 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 Transcription Androgen Receptor nuclear signaling and Androgen Signaling. The compounds dutasteride and finasteride have been mentioned in the context of this disorder. Affiliated tissues include skin, testis and breast, and related mouse phenotypes are renal/urinary system and digestive/alimentary.

Descriptions from OMIM:46 300758,300633

Aliases & Classifications for Hypospadias

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Hypospadias, Aliases & Descriptions:

Name: Hypospadias 8 22 10 44
Familial Hypospadias 8
 
Hypospadias Familial 42


Classifications:



External Ids:

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

Related Diseases for Hypospadias

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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 257)
idRelated DiseaseScoreTop Affiliating Genes
1cryptorchidism31.1AR, SRY
2hermaphroditism30.7SRY
3klinefelter's syndrome30.2AR, FGF8
4hand foot uterus syndrome30.0HOXD13, HOXA13
5pseudohermaphroditism30.0SRD5A2, SRY, AR
6gynecomastia30.0SRD5A2, AR, SRY
7polydactyly29.9HOXA13, HOXD13, FGF8
8hypogonadism29.8AR, FGF8
9androgen insensitivity syndrome29.8SRD5A2, AR, SRY
10azoospermia29.6SRY, AR
11breast cancer29.1AR, FGF8, ATF3, SRD5A2
12urethritis10.7
13hypospadias 1, x-linked10.5
14prostatic hypertrophy10.4AR
15urethral stricture10.4
16posterior hypospadias10.4
17epispadias10.4
18opitz-gbbb syndrome10.3
195-alpha reductase deficiency10.3
20penoscrotal transposition10.3
21preaxial deficiency, postaxial polydactyly and hypospadias10.3
22penis agenesis10.3AR, SRD5A2
23opitz gbbb syndrome, type i10.2
24androgenetic alopecia10.2SRD5A2, AR
25schmitt gillenwater kelly syndrome10.2
26hypospadias mental retardation goldblatt type10.2
27naguib-richieri-costa syndrome10.2
28radial hypoplasia, triphalangeal thumbs and hypospadias10.2
29spina bifida hypospadias10.2
30cleft palate10.1
31coloboma10.1
32imperforate anus10.1
33hypospadias 2, x-linked10.1
34hypospadias - hypertelorism - coloboma and deafness10.1
35schilbach-rott syndrome10.1
36hypospadias - intellectual disability, goldblatt type10.1
37syndactyly10.1HOXD13, FGF8
38wagr syndrome10.1
39balanitis xerotica obliterans10.1
40urethral diverticulum10.1
41wolf-hirschhorn syndrome10.1
42balanitis10.1
43deafness hypospadias metacarpal and metatarsal syndrome10.1
44hypotelorism cleft palate hypospadias10.1
45myopathy growth and mental retardation hypospadias10.1
46tracheophageal fistula hypospadias10.1
47myopathy - growth delay - intellectual disability - hypospadias10.1
48tracheo-esophageal fistula - hypospadias10.1
49lower limb deficiency - hypospadias10.1
50male infertility10.0AR, SRY

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to hypospadias

Symptoms for Hypospadias

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Clinical features from OMIM:

300758,300633

Drugs & Therapeutics for Hypospadias

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Drug clinical trials:

Search ClinicalTrials for Hypospadias

Search NIH Clinical Center for Hypospadias

Genetic Tests for Hypospadias

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Genetic tests related to Hypospadias:

id Genetic test Affiliating Genes
1 Hypospadias22

Anatomical Context for Hypospadias

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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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MGI Mouse Phenotypes related to Hypospadias:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.7FGF8, AR, HOXD13, HOXA13
2MP:00053818.6FGF8, AR, HOXD13, HOXA13
3MP:00053698.5HOXD13, MID1, AR, FGF8
4MP:00053808.3HOXA13, HOXD13, MID1, AR, FGF8
5MP:00053908.3HOXA13, HOXD13, AR, FGF8
6MP:00053788.2FGF8, AR, MID1, HOXD13, HOXA13
7MP:00107687.6HOXA13, HOXD13, SRY, MID1, AR, FGF8
8MP:00053897.5HOXA13, HOXD13, SRY, SRD5A2, MAMLD1, AR
9MP:00053797.0FGF8, HOXA13, HOXD13, ATF3, SRY, SRD5A2

Publications for Hypospadias

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Articles related to Hypospadias:

(show top 50)    (show all 707)
idTitleAuthorsYear
1
Uroradiological screening for upper and lower urinary tract anomalies in patients with hypospadias: a systematic literature review. (22815315)
2013
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
Urethral strictures following urethral plate and proximal urethral elevation during proximal TIP hypospadias repair. (23707201)
2013
4
Severe hypospadias and its association with maternal-placental factors. (23913586)
2013
5
Outcome analysis of tubularized incised plate repair in hypospadias: is a catheter necessary? (23548842)
2013
6
Objective use of testosterone reveals androgen insensitivity in patients with proximal hypospadias. (23962431)
2013
7
Re. 'Urethral strictures following urethral plate and proximal urethral elevation during proximal TIP hypospadias repair' (24411689)
2013
8
Hypospadias surgery and locoregional anesthesia. (23647849)
2013
9
Two-stage complex hypospadias repair when urethral plate has to be divided: ventral corporoplasty using a tunica vaginalis flap. (23764375)
2013
10
Hormone therapy in hypospadias surgery: a systematic review. (23602841)
2013
11
19q13.11 cryptic deletion: description of two new cases and indication for a role of WTIP haploinsufficiency in hypospadias. (22378287)
2012
12
Evaluation of distally folded onlay flap in repair of distal penile hypospadias. (20889383)
2012
13
Soft tissue covers in hypospadias surgery: Is tunica vaginalis better than dartos flap? (22869986)
2012
14
Penile length is comparable in boys with and without hypospadias. (22030456)
2012
15
Tubularized incised plate repair for penoscrotal hypospadias: role of surgeon's experience. (22310760)
2012
16
Re: Tubularized incised plate proximal hypospadias repair: continued evolution and extended applications. (21306956)
2011
17
Common variants in DGKK are strongly associated with risk of hypospadias. (21113153)
2011
18
Hypospadias: interactions between environment and genetics. (21256920)
2011
19
Online hypospadias support group data analysis. (21376203)
2011
20
Tubularized incised plate proximal hypospadias repair: Continued evolution and extended applications. (20598641)
2011
21
Hypospadias repair with tubularized incised plate: Does the obstructive flow pattern resolve spontaneously? (20630805)
2011
22
Analysis of risk factors for glans dehiscence after tubularized incised plate hypospadias repair. (21420110)
2011
23
Hypospadias associated with hypertelorism, the mildest phenotype of Opitz syndrome. (21326312)
2011
24
Two-stage repair with buccal mucosa for severe and complicated hypospadias in adults. (21272086)
2011
25
Urinary function after Snodgrass repair of distal hypospadias: comparison with the Mathieu repair. (20169443)
2010
26
Hypospadias algorithm: The way to propose. (20924445)
2010
27
Is there a need to do routine sonological, urodynamic study and cystourethroscopic evaluation of patients with simple hypospadias? (20625749)
2010
28
Repair of extensive perineal hypospadias in a Boston terrier using tubularized incised plate urethroplasty. (19949553)
2009
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
Patient with bilateral breast enlargement and hypospadias. (19182761)
2009
32
Long-term followup of hypospadias: functional and cosmetic results. (19692042)
2009
33
Repair of distal hypospadias and preputioplasty in one operation. Risks and advantages. (19322007)
2009
34
Endocrine disruptors in the workplace, hair spray, folate supplementation, and risk of hypospadias: case-control study. (19270804)
2009
35
Outcome of severe hypospadias repair using three different techniques. (19201261)
2009
36
Activating transcription factor 3: a hormone responsive gene in the etiology of hypospadias. (18426833)
2008
37
Hypospadias in a male patient with 21-hydroxylase deficiency. (18719294)
2008
38
Maternal diet and the risk of hypospadias and cryptorchidism in the offspring. (18426520)
2008
39
Preputial reconstruction with distal hypospadias repair. (18947717)
2007
40
Association of long polyglycine tracts (GGN repeats) in exon 1 of the androgen receptor gene with cryptorchidism and penile hypospadias in Iranian patients. (16957138)
2007
41
Mutation screening of BMP4, BMP7, HOXA4 and HOXB6 genes in Chinese patients with hypospadias. (17003840)
2007
42
Split hand malformation, hypospadias, microphthalmia, distinctive face and short stature in two brothers suggest a new syndrome. (15809993)
2005
43
Maternal and paternal risk factors for cryptorchidism and hypospadias: a case-control study in newborn boys. (15531444)
2004
44
Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias]. (10514539)
1999
45
Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. (8683794)
1996
46
Testicular cancer in association with developmental renal anomalies and hypospadias. (8560668)
1996
47
Two-stage repair for severe hypospadias. (8015102)
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
Roentgenological differential diagnosis of simple hypospadia from hypospadia in hermaphroditism]. (13083763)
1953

Variations for Hypospadias

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Expression for genes affiliated with Hypospadias

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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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Pathways related to Hypospadias according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
Translation Non genomic rapid action of Androgen Receptor60
9.7AR, SRD5A2
2
Show member pathways
9.4AR, SRY
39.4AR, SRY
49.2ATF3, AR
5
Show member pathways
Signaling Pathways in Glioblastoma37
9.2FGF8, AR, SRD5A2

Compounds for genes affiliated with Hypospadias

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Sources:
44Novoseek, 11DrugBank, 61Tocris Bioscience, 24HMDB, 28IUPHAR
See all sources

Compounds related to Hypospadias according to GeneCards/GeneDecks:

(show all 16)
idCompoundScoreTop Affiliating Genes
1dutasteride44 1111.0SRD5A2, AR
2finasteride44 61 24 1113.0AR, SRD5A2
33beta-hydroxysteroid449.9AR, SRD5A2
417beta-hydroxysteroid449.9AR, SRD5A2
5androstenedione44 2410.7AR, SRD5A2
6deoxyribonucleic acid449.6SRD5A2, SRY
7indole-3-carbinol449.5AR, ATF3
8adenine44 24 1111.4AR, SRD5A2, SRY
9dihydrotestosterone44 28 24 1112.4SRY, SRD5A2, AR
10estradiol44 24 1111.3SRY, SRD5A2, AR
11troglitazone44 28 61 1112.2AR, ATF3
12steroid449.0SRY, SRD5A2, AR
13resveratrol44 61 24 1111.9AR, ATF3
14alanine448.8HOXA13, HOXD13, SRY, SRD5A2
15leucine448.8ATF3, SRY, SRD5A2
16testosterone44 61 24 1111.1FGF8, AR, SRD5A2, SRY, ATF3

GO Terms for genes affiliated with Hypospadias

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Cellular components related to Hypospadias according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:0056347.3AR, MAMLD1, SRY, ATF3, HOXD13, HOXA13

Biological processes related to Hypospadias according to GeneCards/GeneDecks:

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1male gonad developmentGO:0085849.7MAMLD1, SRD5A2
2positive regulation of mitosisGO:0458409.6FGF8, HOXA13
3sex differentiationGO:0075489.6AR, SRY
4skeletal system developmentGO:0015019.5HOXD13, HOXA13
5male genitalia developmentGO:0305399.1FGF8, HOXD13, HOXA13
6positive regulation of cell proliferationGO:0082848.7ATF3, AR, FGF8
7transcription, DNA-templatedGO:0063518.1AR, MAMLD1, ATF3, HOXA13

Molecular functions related to Hypospadias according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:0036778.5AR, SRY, HOXD13, HOXA13
2sequence-specific DNA bindingGO:0435658.2AR, ATF3, HOXD13, HOXA13
3sequence-specific DNA binding transcription factor activityGO:0037008.0HOXA13, HOXD13, ATF3, AR

Products for genes affiliated with Hypospadias

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  • Antibodies
  • Proteins
  • Lysates

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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet