MCID: HYP040
MIFTS: 54

Hypospadias malady

Genetic diseases, Rare diseases, Reproductive diseases, Fetal diseases categories

Summaries for Hypospadias

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Disease Ontology:9 A physical disorder characterized by an abnormally placed urethral opening on the underside of the penis or on the perineum.

MalaCards based summary: Hypospadias, also known as familial hypospadias, is related to hermaphroditism and cryptorchidism, and has symptoms including displacement of the external urethral meatusand hypospadias/epispadias/bent penis. An important gene associated with Hypospadias is MAMLD1 (mastermind-like domain containing 1), and among its related pathways are Regulation of Androgen receptor activity and Steroid hormone biosynthesis. 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 muscle.

Wikipedia:63 Hypospadias /ha?po??spe?d??s/ is a birth defect of the urethra in males and females that involves an... more...

Aliases & Classifications for Hypospadias

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Sources:
9Disease Ontology, 11DISEASES, 43Novoseek, 22GTR, 41NIH Rare Diseases, 47Orphanet, 33MeSH, 60UMLS, 27ICD9CM, 26ICD10 via Orphanet, 25ICD10
See all sources

Hypospadias, Aliases & Descriptions:

Name: Hypospadias 9 11 43 22
Familial Hypospadias 9 41 47
 
Hypospadias Familial 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
familial hypospadias:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:10892
MeSH33 D007021
ICD9CM27 752.6
Orphanet47 440
ICD10 via Orphanet26 Q54.0, Q54.1, Q54.2 Q54.3, Q54.4, Q54.8, Q54.9, more
ICD1025 Q54, Q54.9

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 321)
idRelated DiseaseScoreTop Affiliating Genes
1hermaphroditism30.9SRY
2cryptorchidism30.6AR, WT1, NR5A1, SRY
3hand-foot-uterus syndrome30.4HOXA13, HOXD13
4androgen insensitivity30.4SRD5A2, AR, SRY
5polydactyly30.1HOXA13, FGF8, HOXD13
6klinefelter's syndrome29.9FGF8, NR5A1, AR
7azoospermia29.9SRY, AR
8wilms tumor29.9WT1, NR5A1
9gynecomastia29.9SRD5A2, AR, SRY, CYP17A1
10hypogonadism29.6AR, NR5A1, FGF8
11gonadal dysgenesis29.5WT1, NR5A1, SRY
12pseudohermaphroditism29.5AR, SRY, SRD5A2, CYP17A1, WT1
13breast cancer28.7FGF8, AR, SRD5A2, CYP17A1, ATF3, NR5A1
14urethritis10.7
15urethral stricture10.4
16opitz-gbbb syndrome10.4
17posterior hypospadias10.4
18alopecia, androgenetic, 110.4SRD5A2, AR
19guttmacher syndrome10.4
20epispadias10.4
21pseudovaginal perineoscrotal hypospadias10.3
22hypospadias mental retardation goldblatt type10.3
23penoscrotal transposition10.3
24hypospadias 1, x-linked10.3
25hypotelorism cleft palate hypospadias10.3
2646xy sex reversal 310.3NR5A1
27hypospadias 2, x-linked10.2
285-alpha reductase deficiency10.2
29refractory anemia10.2AR, WT1
30radial hypoplasia, triphalangeal thumbs and hypospadias10.2
31spina bifida hypospadias10.2
32prostatic hypertrophy10.2AR, CYP17A1
33frasier syndrome10.2WT1, SRY
34dysgerminoma10.2SRY, WT1
35gonadoblastoma10.2WT1, SRY
36male infertility10.2SRY, AR
37hypospadias 3, autosomal10.2
38imperforate anus10.2
39naguib-richieri-costa syndrome10.2
40schmitt gillenwater kelly syndrome10.2
41polycystic ovary syndrome10.1AR, CYP17A1
42syndactyly10.1HOXD13, FGF8
43penis agenesis10.1CYP17A1, AR, SRD5A2
44coloboma10.1
45deafness hypospadias metacarpal and metatarsal syndrome10.1
46myopathy growth and mental retardation hypospadias10.1
47tracheophageal fistula hypospadias10.1
48myopathy - growth delay - intellectual disability - hypospadias10.1
49tracheo-esophageal fistula - hypospadias10.1
50lower limb deficiency - hypospadias10.1

Graphical network of the top 20 diseases related to Hypospadias:



Diseases related to hypospadias

Symptoms for Hypospadias

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Symptoms:

 47
  • hypospadias/epispadias/bent penis

HPO human phenotypes related to Hypospadias:

id Description Frequency HPO Source Accession
1 displacement of the external urethral meatus hallmark (90%) HP:0100627

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:

31
Skin, Testis, Breast, Testes, Pituitary, Spinal cord, Small intestine, Placenta, Prostate, Hypothalamus

Animal Models for Hypospadias or affiliated genes

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MGI Mouse Phenotypes related to Hypospadias:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.5HOXD13, WT1, AR, FGF8, HOXA13
2MP:00053698.4WT1, FGF8, AR, MID1, HOXD13
3MP:00053858.0HOXA13, WT1, AR, FGF8, NR5A1
4MP:00028737.7WT1, FGF8, AR, MID1, NR5A1
5MP:00053807.4HOXA13, FGF8, AR, WT1, NR5A1, MID1
6MP:00053787.3HOXA13, FGF8, HOXD13, AR, WT1, NR5A1
7MP:00053796.6AR, WT1, NR5A1, SRD5A2, SRY, ATF3
8MP:00107686.4AR, HOXD13, CYP17A1, SRY, MID1, NR5A1
9MP:00053896.2FGF8, HOXA13, HOXD13, CYP17A1, SRY, SRD5A2

Publications for Hypospadias

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Articles related to Hypospadias:

(show top 50)    (show all 726)
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
Cryptorchidism and Hypospadias (25905331)
2000
45
Identification of mutations of SRD5A2 gene and SRY gene in patients with hypospadias]. (10514539)
1999
46
Androgen receptor gene mutations are rarely associated with isolated penile hypospadias. (8683794)
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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Clinvar genetic disease variations for Hypospadias:

6
id Gene Variation Type Significance SNP ID Assembly Location
1MAMLD1NM_005491.4(MAMLD1): c.589G> T (p.Glu197Ter)single nucleotide variantPathogenicrs121909493GRCh37Chr X, 149638434: 149638434
2MAMLD1NM_005491.4(MAMLD1): c.808C> T (p.Gln270Ter)single nucleotide variantPathogenicrs121909494GRCh37Chr X, 149638653: 149638653
3MAMLD1NM_005491.4(MAMLD1): c.2176C> T (p.Arg726Ter)single nucleotide variantPathogenicrs121909495GRCh37Chr X, 149671679: 149671679
4ARNM_000044.3(AR): c.2610T> G (p.Ile870Met)single nucleotide variantPathogenicrs137852574GRCh37Chr X, 66943530: 66943530
5ARNM_000044.3(AR): c.1645C> T (p.Pro549Ser)single nucleotide variantPathogenicrs137852588GRCh37Chr X, 66863126: 66863126

Expression for genes affiliated with Hypospadias

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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 Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8AR, SRY
2
Show member pathways
Glucocorticoid andamp; Mineralcorticoid Metabolism36
9.6SRD5A2, CYP17A1
3
Show member pathways
9.6CYP17A1, SRD5A2
4
Show member pathways
estradiol biosynthesis II36
androgen biosynthesis36
estradiol biosynthesis I36
progesterone biosynthesis36
9.6SRD5A2, CYP17A1
5
Show member pathways
Signaling Pathways in Glioblastoma36
9.4FGF8, AR, SRD5A2
6
Show member pathways
Nuclear Receptors36
9.4AR, NR5A1

Compounds for genes affiliated with Hypospadias

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Compounds related to Hypospadias according to GeneCards Suite gene sharing:

(show all 47)
idCompoundScoreTop Affiliating Genes
1dutasteride43 1211.3AR, SRD5A2
2finasteride43 59 24 1213.2AR, SRD5A2
3hpaii4310.0AR, WT1
4abiraterone acetate4310.0CYP17A1, AR
5exemestane43 49 59 1212.9CYP17A1, AR
6bisphenol a439.9CYP17A1, AR
7letrozole43 49 59 1212.8AR, CYP17A1
8indole-3-carbinol439.7AR, ATF3
9steroidal439.7CYP17A1, AR
10deoxyribonucleic acid439.6WT1, SRD5A2, SRY
11androstenedione43 2410.6CYP17A1, SRD5A2, AR
12valine439.6AR, SRD5A2, CYP17A1
13troglitazone43 28 59 1212.5ATF3, CYP17A1, AR
14adenine43 24 1211.4AR, WT1, SRD5A2, SRY
15vitamin a43 24 1211.3FGF8, AR, CYP17A1
16hydroxysteroid439.3NR5A1, CYP17A1
17dihydrotestosterone43 28 24 1212.3CYP17A1, SRY, SRD5A2, AR
18ketoconazole43 28 24 1212.3AR, CYP17A1
19chloramphenicol43 2 49 1212.3CYP17A1, WT1, AR
20dmrt439.2SRY, NR5A1, WT1
21diethylstilbestrol43 28 1211.2AR, NR5A1, CYP17A1
22dehydroepiandrosterone sulfate439.1CYP17A1, NR5A1, AR
23dhea439.1CYP17A1, NR5A1, AR
24alanine439.1HOXA13, HOXD13, SRY, SRD5A2
25estrone43 28 24 1212.1AR, NR5A1, CYP17A1
26retinoid439.1FGF8, AR, NR5A1
27gnrh439.0CYP17A1, NR5A1, AR
2812-o-tetradecanoylphorbol 13-acetate439.0WT1, CYP17A1, ATF3
29arginine438.9AR, WT1, SRD5A2, CYP17A1
303beta-hydroxysteroid438.9AR, NR5A1, SRD5A2, CYP17A1
3117beta-hydroxysteroid438.9CYP17A1, SRD5A2, NR5A1, AR
32ribonucleic acid438.6CYP17A1, SRD5A2, NR5A1, WT1
33proline438.5WT1, NR5A1, CYP17A1
34estradiol43 24 1210.5CYP17A1, SRY, SRD5A2, NR5A1, AR
35vitamin d438.4CYP17A1, SRD5A2, NR5A1, WT1, AR
36forskolin43 49 1210.3CYP17A1, NR5A1, WT1, FGF8
37progesterone43 28 59 24 1212.3AR, WT1, NR5A1, SRD5A2, CYP17A1
38leucine438.3ATF3, CYP17A1, SRY, SRD5A2, NR5A1
39threonine438.1ATF3, CYP17A1, SRD5A2, NR5A1, WT1
40oligonucleotide438.0WT1, NR5A1, SRY, CYP17A1, ATF3
41zinc43 249.0FGF8, WT1, NR5A1, SRY, CYP17A1
42steroid437.9CYP17A1, SRY, SRD5A2, NR5A1, WT1, AR
43estrogen437.9ATF3, CYP17A1, SRD5A2, NR5A1, WT1, AR
44tyrosine437.8ATF3, CYP17A1, SRY, WT1, FGF8
45serine437.7ATF3, CYP17A1, SRY, NR5A1, WT1, AR
46retinoic acid43 248.7ATF3, CYP17A1, NR5A1, WT1, AR, FGF8
47testosterone43 59 24 1210.0FGF8, AR, WT1, NR5A1, SRD5A2, SRY

GO Terms for genes affiliated with Hypospadias

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

idNameGO IDScoreTop Affiliating Genes
1nucleoplasmGO:00056548.4AR, WT1, NR5A1, ATF3
2nucleusGO:00056346.7AR, HOXA13, HOXD13, ATF3, SRY, MAMLD1

Biological processes related to Hypospadias according to GeneCards Suite gene sharing:

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1androgen biosynthetic processGO:00067029.8SRD5A2, CYP17A1
2positive regulation of mitosisGO:00458409.8FGF8, HOXA13
3gonad developmentGO:00084069.6FGF8, WT1
4cellular response to gonadotropin stimulusGO:00713719.6WT1, CYP17A1
5intracellular receptor signaling pathwayGO:00305229.5NR5A1, AR
6sex differentiationGO:00075489.5AR, CYP17A1, SRY
7steroid metabolic processGO:00082029.5CYP17A1, SRD5A2
8branching involved in ureteric bud morphogenesisGO:00016589.4WT1, FGF8
9negative regulation of female gonad developmentGO:020001959.4NR5A1, WT1
10tissue developmentGO:00098889.4NR5A1, WT1
11regulation of transcription from RNA polymerase II promoterGO:00063579.3WT1, MAMLD1, SRY
12vasculogenesisGO:00015709.3WT1, HOXA13
13cell-cell signalingGO:00072679.2SRD5A2, AR, NR5A1
14positive regulation of male gonad developmentGO:020000209.0SRY, NR5A1, WT1
15male genitalia developmentGO:00305399.0HOXA13, FGF8, WT1, HOXD13
16cell differentiationGO:00301548.9SRD5A2, SRY, NR5A1
17male gonad developmentGO:00085848.9WT1, NR5A1, MAMLD1, SRD5A2
18adrenal gland developmentGO:00303258.8WT1, NR5A1, CYP17A1
19positive regulation of transcription from RNA polymerase II promoterGO:00459448.4AR, NR5A1, HOXD13, HOXA13, WT1

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

idNameGO IDScoreTop Affiliating Genes
1transcription regulatory region DNA bindingGO:00442129.3AR, WT1, HOXA13
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048799.3AR, NR5A1
3chromatin bindingGO:00036829.0NR5A1, HOXD13, AR
4sequence-specific DNA binding transcription factor activityGO:00037008.6AR, WT1, ATF3, HOXD13, HOXA13
5DNA bindingGO:00036777.9NR5A1, SRY, HOXD13, HOXA13, AR
6sequence-specific DNA bindingGO:00435657.8AR, WT1, NR5A1, ATF3, HOXD13, HOXA13

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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet