MCID: CRY002
MIFTS: 66

Cryptorchidism malady

Reproductive diseases category

Summaries for Cryptorchidism

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning ὄρχις, orchis, meaning... 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 testis, testes and pituitary, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Description from OMIM:46 219050

Aliases & Classifications for Cryptorchidism

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8Disease Ontology, 9diseasecard, 46OMIM, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 34MeSH, 39NCIt, 27ICD9CM, 25ICD10
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Classifications:

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


Aliases & Descriptions:

cryptorchidism 8 9 46 10 44
undescended testicle nos 8
testicular dysfunction 60
undescended testicles 8
undescended testicle 8
undescended testis 8
cryptorchidism nos 8
cryptorchism 8


External Ids:

Disease Ontology8 DOID:11383
MeSH34 D003456
NCIt39 C12326
OMIM46 219050
ICD9CM27 752.51
ICD1025 Q53, Q53.1, Q53.2

Related Diseases for Cryptorchidism

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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 199)
idRelated DiseaseScoreTop Affiliating Genes
1hypospadias31.0AR, CGA, NR5A1, INSL3, SRD5A1
2infertility30.7DAZ1, INSL3, HOXA10, NR5A1, SHBG, CGA
3testicular cancer30.5RXFP2, AZF1, CGA, CGB5, ALPPL2, ALPP
4seminoma30.4CGA, CGB5, ALPP, ALPPL2
5testicular disease30.4INSL3, IGFL3, CGA
6male infertility30.4AZF1, GNRH1, AR, CGA, SHBG, DAZ1
7azoospermia30.3DAZ1, INSL3, SHBG, CGB5, CGA, AR
8pseudohermaphroditism30.2AR, AMH
9obesity30.2AR, SHBG, NR5A1, INSL3, SRD5A1
10klinefelter's syndrome30.2SRD5A1, IGFL3, NR5A1, SHBG, CGA, AR
11hypothyroidism30.1GNRH1, CGA, SHBG
12sertoli cell tumor30.1AR, ALPP
13prostatitis30.1SRD5A1
14varicocele30.1AZF1, GNRH1, CGA, SHBG
15leydig cell tumor30.1GNRH1, CGA, CGB5, NR5A1, SRD5A1
16gynecomastia30.0GNRH1, AR, CGA, CGB5, SHBG, SRD5A1
17sexual disorder30.0GNRH1, SHBG
18hypogonadotropism29.7GNRH1
19hermaphroditism29.7AMH
20thyroiditis29.7CGA
21oligospermia29.7DAZ1
22hypogonadism29.7NR5A1, SHBG, CGB5, CGA, STS, AR
23alopecia29.7AR, SHBG
24down syndrome29.7CGB5, CGA, STS
25breast cancer29.7SRD5A1, SHBG, STS, AR, GNRH1
26impotence29.7SRD5A1, SHBG
27malignant tumor of undescended testis10.4
28mature teratoma10.4
29torticollis keloids cryptorchidism renal dysplasia10.3
30hydrocele10.2
31wagr syndrome10.1
32cystic fibrosis10.1
33pseudotumor cerebri10.1
34orchitis10.1
35focal glomerulosclerosis10.1
36epididymo-orchitis10.1
37malignant teratoma10.1
38pseudohypoaldosteronism type ii10.1
39filippi syndrome10.1
40kallmann syndrome 110.1
41x-linked ichthyosis10.1
42renal agenesis10.1
43persistent mullerian duct syndrome10.1
44testis seminoma10.1
45anophthalmia esophageal atresia cryptorchidism10.1
46klippel-trenaunay syndrome10.0
47adult cystic teratoma10.0
48myofibroma10.0
49arachnoiditis10.0
50dextrocardia10.0

Graphical network of the top 20 diseases related to Cryptorchidism:



Diseases related to cryptorchidism

Clinical Features for Cryptorchidism

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46OMIM
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Clinical features from OMIM:

219050

Clinical synopsis from OMIM:

219050

Drugs & Therapeutics for Cryptorchidism

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

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Anatomical Context for Cryptorchidism

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32MalaCards
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MalaCards organs/tissues related to Cryptorchidism:

32
Testis, Testes, Pituitary, Breast, Heart, Prostate, Placenta, Appendix, Kidney, Brain, Colon, Thyroid, Hypothalamus

Animal Models for Cryptorchidism or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Cryptorchidism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537910.4SRD5A1, HOXA10, RXFP2, AMH
2MP:00053899.9ALPP, AMH, RXFP2, GNRH1, AR, CGA

Publications for Cryptorchidism

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50PubMed
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Articles related to Cryptorchidism:

(show top 50)    (show all 581)
idTitleAuthorsYear
1
A novel mutation of anti-Mullerian hormone gene in Persistent Mullerian Duct Syndrome presented with bilateral cryptorchidism: a case report. (23611722)
2013
2
Sertoli cell dedifferentiation in human cryptorchidism and gender reassignment shows similarities between fetal environmental and adult medical treatment estrogen and antiandrogen exposure. (24012888)
2013
3
The controversy regarding the need for hormonal treatment in boys with unilateral cryptorchidism goes on: a review of the literature. (22395567)
2013
4
Serum AMH concentration as a marker evaluating gonadal function in boys operated on for unilateral cryptorchidism between 1st and 4th year of life. (22038452)
2012
5
The controversy regarding the need for hormonal treatment in boys with unilateral cryptorchidism goes on: a review of the literature by B. Ludwikowski and R. GonzA!lez. (22527570)
2012
6
Spermatogenesis in cryptorchidism. (22144242)
2012
7
Persistent mullerian duct syndrome in a patient with bilateral cryptorchid testes with seminoma. (23162363)
2012
8
Cryptorchidism in mice with an androgen receptor ablation in gubernaculum testis. (22322597)
2012
9
Mesenteric cavernous hemangioma in a cryptorchid man. (21743240)
2011
10
A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism. (20963592)
2010
11
Cryptorchidism: pathogenesis, diagnosis, treatment and prognosis. (20569797)
2010
12
Molecular basis of cryptorchidism-induced infertility. (21046318)
2010
13
Expression pattern of testis-specific expressed gene 2 in cryptorchidism model and its role in apoptosis of spermatogenic cells. (20407872)
2010
14
Obesity does not decrease the accuracy of testicular examination in anesthetized boys with cryptorchidism. (19095266)
2009
15
Muesothelial cyst of the spermatic cord as a cause of acquired cryptorchidism. (19085038)
2009
16
Bilateral polyorchidism associated with intraabdominal cryptorchidism: a case report. (19204438)
2009
17
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. (18772597)
2008
18
Re: Relationship between adult dark spermatogonia and secretory capacity of Leydig cells in cryptorchidism. (18234065)
2008
19
Maternal smoking, alcohol consumption, and caffeine consumption during pregnancy in relation to a son's risk of persistent cryptorchidism: a prospective study in the Child Health and Development Studies cohort, 1959-1967. (18024986)
2008
20
Prenatal alcohol exposure and cryptorchidism. (17888049)
2007
21
Inducible 70 kDa heat shock protein does not protect spermatogenic cells from damage induced by cryptorchidism. (17014532)
2007
22
Space-time clustering of cryptorchidism and hypospadias. (17179765)
2007
23
Evidence of an environmental contribution to the aetiology of cryptorchidism and hypospadias? (17636413)
2007
24
Novel mutations involving the INSL3 gene associated with cryptorchidism. (17437853)
2007
25
Human exposure to endocrine-disrupting chemicals and prenatal risk factors for cryptorchidism and hypospadias: a nested case-control study. (18174944)
2007
26
HtrA2 is up-regulated in the rat testis after experimental cryptorchidism. (16563141)
2006
27
Immunostaining for placental alkaline phosphatase on fine-needle aspiration specimens to detect noninvasive testicular cancer: a prospective evaluation in cryptorchid men. (16643476)
2006
28
Screening for Y chromosome microdeletions in idiopathic and nonidiopathic infertile men with varicocele and cryptorchidism. (16157049)
2005
29
Role of INSL3 and LGR8 in cryptorchidism and testicular functions. (15353080)
2004
30
Analysis of the DAZ gene family in cryptorchidism and idiopathic male infertility. (15066457)
2004
31
Cryptorchidism in a local population in Nigeria. (15171530)
2004
32
Cryptorchidism: diagnosis, treatment, and long-term prognosis. (15313056)
2004
33
Testicular tumour with features of sex cord tumor with annular tubules associated with cryptorchidism and infertility--a case report. (16295394)
2004
34
Incidence of cryptorchidism and ascending testes in trisomy 21: a 10 year retrospective review. (15517292)
2004
35
Amplified androstenedione enzymeimmunoassay for the diagnosis of cryptorchidism in the male horse: comparison with testosterone and estrone sulphate methods. (12711026)
2003
36
Impalpable cryptorchidism--a review of 170 testes. (12014360)
2002
37
Long-term cultures of testicular biopsies from boys with cryptorchidism: effect of FSH and LH on the number of germ cells. (11821283)
2002
38
Maternal, delivery, and perinatal characteristics associated with cryptorchidism: a population-based case-control study among births in Washington State. (11880761)
2002
39
A quantitative (stereological) study of the effects of experimental unilateral cryptorchidism and subsequent orchiopexy on spermatogenesis in adult rabbit testis. (12090923)
2002
40
A new experimental model for cryptorchidism: inguinoscrotal approach. (11482442)
2001
41
Needlescopic surgery for cryptorchidism: the initial series. (11051142)
2000
42
Diagnosis and medical-surgical treatment of cryptorchidism. (10882155)
2000
43
Absence of mutations involving the INSL3 gene in human idiopathic cryptorchidism. (10729310)
2000
44
A common polymorphism in the human relaxin-like factor (RLF) gene: no relationship with cryptorchidism. (10759163)
2000
45
Response of testosterone to chorionic gonadotropin stimulus in prepubertal cryptorchidism and retractile testes. Age-related changes in gonadal steroidogenesis. Authors'experience]. (9053722)
1996
46
Cryptorchidism in boys with imperforate anus. (7595851)
1995
47
Persistent mA1llerian duct syndrome: report of a case with bilateral cryptorchidism. (8586516)
1995
48
X-linked ichthyosis and cryptorchidism. (2874061)
1986
49
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
50
Abnormalities of the vas deferens and epididymis in cryptorchid boys with congenital rubella. (45116)
1979

Genetic Variations for Cryptorchidism

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62UniProtKB/Swiss-Prot
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Genetic disease variations for Cryptorchidism:

62
id Symbol AA change Variation ID SNP ID
1INSL3p.Pro93LeuVAR_013235rs104894697
2INSL3p.Arg102CysVAR_013236
3INSL3p.Asn110LysVAR_017122
4RXFP2p.Thr222ProVAR_015386rs28939382

Expression for genes affiliated with Cryptorchidism

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 29KEGG, 37NCBI BioSystems Database
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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

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

(show top 50)    (show all 136)
idCompoundScoreTop Affiliating Genes
1estrogen4410.8SRD5A1, HOXA10, NR5A1
2leuprolide44 59 28 1113.8GNRH1, AR, CGA, CGB5, SRD5A1
3hydroxyflutamide44 2811.8ALPP, SRD5A1, SHBG, CGA, AR
4androstenediol4410.8SRD5A1, SHBG, STS, AR
5epitestosterone4410.8CGA, SRD5A1, SHBG
6diethylstilbestrol44 28 1112.8INSL3, HOXA10, NR5A1, CGB5, AR, SHBG
73beta-hydroxysteroid4410.8CGA, AR, CGB5, NR5A1, INSL3, SRD5A1
8goserelin44 28 1112.8GNRH1, CGA, SHBG, SRD5A1
9leuprolide acetate4410.8GNRH1, CGA, SHBG, CGB5
1017-hydroxyprogesterone44 2411.8CGB5, CGA, SRD5A1, GNRH1, SHBG
11flutamide44 59 1112.8SRD5A1, GNRH1, CGA, SHBG, AR
1217beta-hydroxysteroid4410.8NR5A1, STS, CGA, SRD5A1, CGB5, AR
13clomiphene citrate4410.7GNRH1, CGA, CGB5, SHBG
14danazol44 11 2412.7STS, SHBG, AR, GNRH1
15mifepristone44 59 28 1113.7CGA, AR, CGB5, AMH, GNRH1, SHBG
16dhea4410.7AR, STS, SRD5A1, NR5A1, CGB5, SHBG
17estrone44 28 11 2413.7SHBG, GNRH1, NR5A1, CGB5, STS, AR
18dehydroepiandrosterone sulfate4410.7GNRH1, AR, STS, CGA, CGB5, SHBG
19androstenedione44 2411.7SHBG, SRD5A1, CGA, AR, GNRH1, CGB5
20(+-)-pgf2-alpha4410.7CGA, CGB5, NR5A1, GNRH1
21progestins4410.7GNRH1, AR, SRD5A1, SHBG, STS
22letrozole44 49 59 1113.7STS, CGA, AR, SHBG
23cyproteroneacetate4410.7GNRH1, SRD5A1, SHBG, AR
24dihydrotestosterone44 28 11 2413.7CGA, STS, CGB5, SHBG, SRD5A1, GNRH1
25progestin4410.7AR, SRD5A1, SHBG, CGB5, CGA, STS
26tamoxifen44 49 28 1113.7STS, GNRH1, CGB5, AMH, SHBG, ALPP
27norgestimate44 1111.7SRD5A1, SHBG, AR
28spironolactone49 44 59 28 1114.7SRD5A1, SHBG, AR, GNRH1
29gnrh4410.7GNRH1, SRD5A1, SHBG, CGB5, CGA, AR
30estradiol44 11 2412.7AR, GNRH1, AMH, SHBG, STS, CGA
31steroidal4410.7GNRH1, SRD5A1, STS, AR
32progesterone44 59 28 11 2414.7AMH, AR, STS, GNRH1, SRD5A1, HOXA10
33steroid4410.7AR, CGB5, SHBG, NR5A1, HOXA10, INSL3
34estradiol benzoate4410.7GNRH1, CGA, CGB5
3517-hydroxypregnenolone4410.6CGA, CGB5, SHBG
36phenytoin44 49 28 1113.6SHBG, CGA, SRD5A1, ALPP
37vitamin d4410.6ALPP, SHBG, SRD5A1, NR5A1, CGA, AR
38testosterone44 59 11 2413.6GNRH1, AMH, ALPP, SRD5A1, AR, STS
39dihydroprogesterone4410.6CGA, CGB5, SRD5A1
40allopregnanolone4410.6SHBG, SRD5A1, GNRH1
41cycloheximide4410.6AR, ALPP, CGA, CGB5, CIRBP, HOXA10
425alpha-androstane-3alpha,17beta-diol4410.6AR, SRD5A1, SHBG
43retinoic acid44 2411.6SRD5A1, SHBG, CGB5, STS, AR, LBX1
44cetrorelix44 28 1112.6GNRH1, CGB5, CGA
4522r-hydroxycholesterol44 2811.5CGB5, NR5A1, CGA
46buserelin44 28 1112.5CGA, CGB5, GNRH1
47finasteride44 59 11 2413.4AR, SHBG, SRD5A1
48epinephrine44 11 2412.4GNRH1, CGA, SHBG, CGB5, AR
49exemestane49 44 59 1113.3SRD5A1, SHBG, AR
50levamisole44 1111.1SRD5A1, ALPPL2, ALPP

GO Terms for genes affiliated with Cryptorchidism

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16Gene Ontology
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Biological processes related to Cryptorchidism according to GeneCards/GeneDecks:

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

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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Sources for Cryptorchidism

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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