MCID: CRY002
MIFTS: 59

Cryptorchidism malady

Reproductive category

Summaries for Cryptorchidism

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis,... more...

MalaCards: Cryptorchidism, also known as undescended testicle nos, is related to hypospadias and infertility. An important gene associated with Cryptorchidism is INSL3 (insulin-like 3 (Leydig cell)), and among its related pathways are Relaxin receptors and Glycoprotein hormones. The compounds estrogen and leuprolide have been mentioned in the context of this disorder. Affiliated tissues include brain, heart and kidney, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Description from OMIM:47 219050

Aliases & Classifications for Cryptorchidism

Sources:
8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 45Novoseek, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

cryptorchidism 8 9 47 10 45
undescended testicle nos 8
testicular dysfunction 61
undescended testicles 8
undescended testicle 8
undescended testis 8
cryptorchidism nos 8
cryptorchism 8


External Ids:

Disease Ontology8 DOID:11383
MeSH35 D003456
NCIt40 C12326
OMIM47 219050
ICD9CM27 752.51
ICD1025 Q53, Q53.1, Q53.2

Related Diseases for Cryptorchidism

Sources:
17GeneCards, 18GeneDecks
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Diseases related to Cryptorchidism via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 219)
idRelated DiseaseScoreTop Affiliating Genes
1hypospadias31.0AR, CGA, NR5A1, INSL3, SRD5A1
2infertility30.6DAZ1, INSL3, HOXA10, NR5A1, SHBG, CGA
3testicular cancer30.6RXFP2, AZF1, CGA, CGB5, ALPPL2, ALPP
4klinefelter's syndrome30.3SRD5A1, IGFL3, NR5A1, SHBG, CGA, AR
5azoospermia30.3DAZ1, INSL3, SHBG, CGB5, CGA, AR
6adenoma30.2GNRH1, CGA, SHBG, NR5A1, SRD5A1
7down syndrome30.2CGB5, CGA, STS
8testicular disease30.2INSL3, IGFL3, CGA
9sertoli cell tumor30.1AR, ALPP
10varicocele30.1AZF1, GNRH1, CGA, SHBG
11gynecomastia30.0GNRH1, AR, CGA, CGB5, SHBG, SRD5A1
12oligospermia29.7DAZ1
13teratoma29.7CGA, CGB5, ALPP, ALPPL2
14germ cell cancer29.7ALPPL2, ALPP, CGA, AR
15short stature29.7GNRH1, LBX1, STS, SHBG
16alopecia29.7AR, SHBG
17malignant tumor of undescended testis10.4
18torticollis keloids cryptorchidism renal dysplasia10.4
19testicular microlithiasis10.2
20spigelian hernia-cryptorchidism syndrome10.2
21anophthalmia esophageal atresia cryptorchidism10.1
22mental retardation10.1
23wagr syndrome10.1
24cystic fibrosis10.1
25pseudotumor cerebri10.1
26orchitis10.1
27focal glomerulosclerosis10.1
28pseudohypoaldosteronism type ii10.1
29filippi syndrome10.1
30kallmann syndrome 110.1
31hemihypertrophy10.1
32epididymitis10.1
33epispadias10.1
34renal agenesis10.1
35conn's syndrome10.1
36n syndrome10.1
37persistent mullerian duct syndrome10.1
38testis seminoma10.1
39anorchia10.1
40omphalocele10.1
41klippel-trenaunay syndrome10.1
42adult cystic teratoma10.1
43myofibroma10.1
44dextrocardia10.1
45ureterocele10.1
46adult teratoma10.1
47arachnoid cysts10.1
48inflammatory myofibroblastic tumor10.1
49weber syndrome10.1
50male germ cell tumor, somatic10.1

Graphical network of the top 20 diseases related to Cryptorchidism:



Diseases related to cryptorchidism

Clinical Features for Cryptorchidism

Sources:
47OMIM
See all sources

Clinical features from OMIM:

219050

Clinical synopsis from OMIM:

219050

Drugs & Therapeutics for Cryptorchidism

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

Approved drugs:

Search CenterWatch for Cryptorchidism

Drug clinical trials:

Search ClinicalTrials for Cryptorchidism

Search NIH Clinical Center for Cryptorchidism

Search CenterWatch for Cryptorchidism

Genetic Tests for Cryptorchidism

Anatomical Context for Cryptorchidism

Sources:
33MalaCards
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MalaCards organs/tissues related to Cryptorchidism:

33
Brain, Heart, Kidney, Thyroid, Breast, Placenta, Prostate, Testis, T cells, B cells, Fetal brain, Hypothalamus, Appendix, Fetal thyroid, Pituitary, Testis germ, Testis leydig

Animal Models for Cryptorchidism or affiliated genes

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

MGI Mouse Phenotypes related to Cryptorchidism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.4SRD5A1, HOXA10, RXFP2, AMH
2MP:00053899.9ALPP, AMH, RXFP2, GNRH1, AR, CGA

Publications for Cryptorchidism

Sources:
51PubMed
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Articles related to Cryptorchidism:

(show top 50)    (show all 542)
idTitleAuthorsYear
1
A genome-wide association study for canine cryptorchidism in Siberian Huskies. (24268032)
2013
2
No association between exposure to perfluorinated compounds and congenital cryptorchidism: a nested case-control study among 215 boys from Denmark and Finland. (24218628)
2013
3
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
4
Evaluation of orchiopexy practice patterns in patients with cryptorchidism: A single-centre study. (24090631)
2013
5
Factors related to the time to cryptorchidism surgery-A nationwide, population-based study in Taiwan. (23883792)
2013
6
Silver: russell syndrome with cryptorchidism. (24349852)
2013
7
SPAG5 mRNA is over-expressed in peripheral blood leukocytes of patients with Down's syndrome and cryptorchidism. (22773063)
2013
8
New Zealand Malayan war veterans' exposure to dibutylphthalate is associated with an increased incidence of cryptorchidism, hypospadias and breast cancer in their children. (22864157)
2012
9
Cryptorchidism and hypospadias in a cohort of 934,538 Danish boys: the role of birth weight, gestational age, body dimensions, and fetal growth. (22454385)
2012
10
Abdominal cryptorchidism presenting with an acute abdomen. (22672400)
2012
11
Maternal pregnancy levels of trans-nonachlor and oxychlordane and prevalence of cryptorchidism and hypospadias in boys. (21975279)
2012
12
Protective effect of I+-tocopherol on damage to rat testes by experimental cryptorchidism. (21314742)
2011
13
Serum concentrations of Anti-MA1llerian Hormone (AMH) in 95 patients with Klinefelter syndrome with or without cryptorchidism. (21251056)
2011
14
Weak association of anti-sperm antibodies and strong association of familial cryptorchidism/infertility with HLA-DRB1 polymorphisms in prepubertal Ukrainian boys. (21955839)
2011
15
Diagnostic imaging in cryptorchidism: utility, indications, and effectiveness. (22152893)
2011
16
Seminal vesicle cyst, vas deferens ectopia, pelvic kidney and cryptorchidism. (20557527)
2010
17
Maternal use of acetaminophen, ibuprofen, and acetylsalicylic acid during pregnancy and risk of cryptorchidism. (20805751)
2010
18
Obesity does not decrease the accuracy of testicular examination in anesthetized boys with cryptorchidism. (19095266)
2009
19
A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor. (19048299)
2009
20
Bilateral polyorchidism associated with intraabdominal cryptorchidism: a case report. (19204438)
2009
21
Acquired cryptorchidism is frequent in infancy and childhood. (19515170)
2009
22
Posterior urethral valves are often associated with cryptorchidism and inguinal hernias. (18554641)
2008
23
Prenatal alcohol exposure and cryptorchidism. (17888049)
2007
24
Inducible 70 kDa heat shock protein does not protect spermatogenic cells from damage induced by cryptorchidism. (17014532)
2007
25
Flame retardants in placenta and breast milk and cryptorchidism in newborn boys. (17938745)
2007
26
Development of a model for mapping cryptorchidism in sheep and initial evidence for association of INSL3 with the defect. (17355391)
2007
27
The possible role of endocrine disrupting chemicals in the aetiology of cryptorchidism and hypospadias: a population-based case-control study in rural Sicily. (16824044)
2007
28
Mild gestational diabetes as a risk factor for congenital cryptorchidism. (17032715)
2006
29
HtrA2 is up-regulated in the rat testis after experimental cryptorchidism. (16563141)
2006
30
Over expression of insulin-like 3 does not prevent cryptorchidism in GNRHR or HOXA10 deficient mice. (16753450)
2006
31
Relationship between the persistence of the processus vaginalis and age in patients with cryptorchidism. (15763011)
2005
32
Modulation of germ cell apoptosis with a nitric oxide synthase inhibitor in a murine model of congenital cryptorchidism. (15371801)
2004
33
The gubernaculum in testicular descent and cryptorchidism. (15499792)
2004
34
Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility. (15066457)
2004
35
Electronic data base systems support the evaluation of male infertility factors, example cryptorchidism. (14963358)
2004
36
Differences in the prevalence of cryptorchidism. (15094266)
2004
37
Cryptorchidism, fertility, and cancer. (12514074)
2003
38
MIS/AMH in the assessment of cryptorchidism and intersex conditions. (14656481)
2003
39
Management of the postpubertal patient with cryptorchidism: an updated analysis. (11832725)
2002
40
Needlescopic surgery for cryptorchidism: the initial series. (11051142)
2000
41
Excess fetal estrogen as an etiological cause of human cryptorchidism. (11025751)
2000
42
Life-threatening germ cell tumor arising in cryptorchidism: a case report. (10063723)
1999
43
The histological effect of the human chorionic gonadotropin and luteinizing hormone-releasing hormone on experimental cryptorchidism in rats. (10697694)
1999
44
Bilateral suprarenal cryptorchidism in a patient with the Pfeiffer syndrome. (9224373)
1997
45
Association of epididymal anomalies with patent processus vaginalis in hernia, hydrocele and cryptorchidism. (8911389)
1996
46
The use of the hCG stimulation test in the endocrine evaluation of cryptorchidism. (8535728)
1995
47
Evidence in favor of the mechanical (intrauterine torsion) theory over the endocrinopathy (cryptorchidism) theory in the pathogenesis of testicular agenesis. (1677689)
1991
48
Case conference 4--1989. A 4-year-old, 17-kg boy with panhypopituitarism, cryptorchidism, developmental delay, and second-degree heart block. (2577704)
1989
49
Omphalocele, cryptorchidism and brain malformations. (2898015)
1988
50
Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus. (6132873)
1982

Genetic Variations for Cryptorchidism

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Cryptorchidism:

63
id Symbol AA change Variation SNP ID
1INSL3p.Pro93LeuVAR_013235rs104894697
2INSL3p.Arg102CysVAR_013236
3INSL3p.Asn110LysVAR_017122
4RXFP2p.Thr222ProVAR_015386rs28939382

Expression for genes affiliated with Cryptorchidism

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

Search GEO for disease gene expression data for Cryptorchidism.

Pathways for genes affiliated with Cryptorchidism

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

Pathways related to Cryptorchidism according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.5INSL3, RXFP2
2
Hide members
10.4CGA, GNRH1
310.4ALPPL2, ALPP
410.4SHBG, AR, GNRH1

Compounds for genes affiliated with Cryptorchidism

Sources:
45Novoseek, 60Tocris Bioscience, 29IUPHAR, 11DrugBank, 24HMDB, 50PharmGKB
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Compounds related to Cryptorchidism according to GeneCards/GeneDecks:

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1estrogen4510.8SRD5A1, HOXA10, NR5A1
2leuprolide45 60 29 1113.8GNRH1, AR, CGA, CGB5, SRD5A1
3hydroxyflutamide45 2911.8ALPP, SRD5A1, SHBG, CGA, AR
4androstenediol4510.8SRD5A1, SHBG, STS, AR
5epitestosterone4510.8CGA, SRD5A1, SHBG
6diethylstilbestrol45 29 1112.8INSL3, HOXA10, NR5A1, CGB5, AR, SHBG
73beta-hydroxysteroid4510.8CGA, AR, CGB5, NR5A1, INSL3, SRD5A1
8goserelin45 29 1112.8GNRH1, CGA, SHBG, SRD5A1
9leuprolide acetate4510.8GNRH1, CGA, SHBG, CGB5
1017-hydroxyprogesterone45 2411.8CGB5, CGA, SRD5A1, GNRH1, SHBG
11flutamide45 60 1112.8SRD5A1, GNRH1, CGA, SHBG, AR
1217beta-hydroxysteroid4510.8NR5A1, STS, CGA, SRD5A1, CGB5, AR
13clomiphene citrate4510.7GNRH1, CGA, CGB5, SHBG
14danazol45 11 2412.7STS, SHBG, AR, GNRH1
15mifepristone45 60 29 1113.7CGA, AR, CGB5, AMH, GNRH1, SHBG
16dhea4510.7AR, STS, SRD5A1, NR5A1, CGB5, SHBG
17estrone45 29 11 2413.7SHBG, GNRH1, NR5A1, CGB5, STS, AR
18dehydroepiandrosterone sulfate4510.7GNRH1, AR, STS, CGA, CGB5, SHBG
19androstenedione45 2411.7SHBG, SRD5A1, CGA, AR, GNRH1, CGB5
20(+-)-pgf2-alpha4510.7CGA, CGB5, NR5A1, GNRH1
21progestins4510.7GNRH1, AR, SRD5A1, SHBG, STS
22letrozole45 50 60 1113.7STS, CGA, AR, SHBG
23cyproteroneacetate4510.7GNRH1, SRD5A1, SHBG, AR
24dihydrotestosterone45 29 11 2413.7CGA, STS, CGB5, SHBG, SRD5A1, GNRH1
25progestin4510.7AR, SRD5A1, SHBG, CGB5, CGA, STS
26tamoxifen45 50 29 1113.7STS, GNRH1, CGB5, AMH, SHBG, ALPP
27norgestimate45 1111.7SRD5A1, SHBG, AR
28spironolactone50 45 60 29 1114.7SRD5A1, SHBG, AR, GNRH1
29gnrh4510.7GNRH1, SRD5A1, SHBG, CGB5, CGA, AR
30estradiol45 11 2412.7AR, GNRH1, AMH, SHBG, STS, CGA
31steroidal4510.7GNRH1, SRD5A1, STS, AR
32progesterone45 60 29 11 2414.7AMH, AR, STS, GNRH1, SRD5A1, HOXA10
33steroid4510.7AR, CGB5, SHBG, NR5A1, HOXA10, INSL3
34estradiol benzoate4510.7GNRH1, CGA, CGB5
3517-hydroxypregnenolone4510.6CGA, CGB5, SHBG
36phenytoin45 50 29 1113.6SHBG, CGA, SRD5A1, ALPP
37vitamin d4510.6ALPP, SHBG, SRD5A1, NR5A1, CGA, AR
38testosterone45 60 11 2413.6GNRH1, AMH, ALPP, SRD5A1, AR, STS
39dihydroprogesterone4510.6CGA, CGB5, SRD5A1
40allopregnanolone4510.6SHBG, SRD5A1, GNRH1
41cycloheximide4510.6AR, ALPP, CGA, CGB5, CIRBP, HOXA10
425alpha-androstane-3alpha,17beta-diol4510.6AR, SRD5A1, SHBG
43retinoic acid45 2411.6SRD5A1, SHBG, CGB5, STS, AR, LBX1
44cetrorelix45 29 1112.6GNRH1, CGB5, CGA
4522r-hydroxycholesterol45 2911.5CGB5, NR5A1, CGA
46buserelin45 29 1112.5CGA, CGB5, GNRH1
47finasteride45 60 11 2413.4AR, SHBG, SRD5A1
48epinephrine45 11 2412.4GNRH1, CGA, SHBG, CGB5, AR
49exemestane50 45 60 1113.3SRD5A1, SHBG, AR
50levamisole45 1111.1SRD5A1, ALPPL2, ALPP

GO Terms for genes affiliated with Cryptorchidism

Sources:
16Gene Ontology
See all sources

Biological processes related to Cryptorchidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cell-cell signalingGO:00726710.5INSL3, AMH, GNRH1, AR, CGA, NR5A1
2sex differentiationGO:00754810.5SRD5A1, AR, AMH
3male gonad developmentGO:00858410.4RXFP2, AR, NR5A1, INSL3
4spermatogenesisGO:00728310.4DAZ1, INSL3, HOXA10, AR
5sex determinationGO:00753010.3SRD5A1, AMH
6oocyte maturationGO:00155610.2RXFP2, INSL3

Molecular functions related to Cryptorchidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1alkaline phosphatase activityGO:00403510.4ALPPL2, ALPP
2hormone activityGO:00517910.3INSL3, CGA, GNRH1, AMH
3androgen bindingGO:00549710.1SHBG, AR

Products for genes affiliated with Cryptorchidism

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  • Proteins
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Sources for Cryptorchidism

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