MCID: CRY002
MIFTS: 63

Cryptorchidism malady

Genetic diseases (common), Reproductive diseases categories
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Summaries for Cryptorchidism

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65Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:65 Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden ?????, orchis, meaning testicle)... more...

MalaCards: Cryptorchidism, also known as undescended testicle nos, is related to hypospadias and testicular cancer. An important gene associated with Cryptorchidism is INSL3 (insulin-like 3 (Leydig cell)), and among its related pathways are Transcription Role of VDR in regulation of genes involved in osteoporosis and G alpha (s) signalling events. The compounds phthalate esters and deslorelin have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and pituitary, and related mouse phenotypes are tumorigenesis and skeleton.

Description from OMIM:47 219050

Aliases & Classifications for Cryptorchidism

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8Disease Ontology, 9diseasecard, 47OMIM, 10DISEASES, 45Novoseek, 62UMLS, 35MeSH, 58SNOMED-CT, 27ICD9CM, 40NCIt, 25ICD10
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Classifications:

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


Aliases & Descriptions:

cryptorchidism 8 9 47 10 45
undescended testicle nos 8
testicular dysfunction 62
undescended testicles 8
undescended testicle 8
undescended testis 8
cryptorchidism nos 8
cryptorchism 8


External Ids:

Disease Ontology8 DOID:11383
MeSH35 D003456
OMIM47 219050
ICD9CM27 752.51
NCIt40 C12326
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 183)
idRelated DiseaseScoreTop Affiliating Genes
1hypospadias31.0INSL3, AR, CGA, NR5A1
2testicular cancer30.5RXFP2, INSL3, AZF1, CGA, SHBG
3pseudohermaphroditism30.3AR, AMH
4male infertility30.3GNRH1, SHBG, AR
5infertility30.3DAZ1, AZF1, INSL3, AR, CGA, NR5A1
6leydig cell tumor30.2CGA, NR5A1, GNRH1
7mental retardation30.2STS, AR, SHBG
8obesity30.2SHBG, NR5A1, AR, INSL3
9varicocele30.1CGA, SHBG, GNRH1, AZF1
10azoospermia30.1AMH, CGA, AR, SHBG, GNRH1, INSL3
11klinefelter's syndrome30.0CGA, AR, NR5A1, SHBG, GNRH1, AZF1
12oligospermia30.0DAZ1
13hermaphroditism30.0AMH
14x-linked ichthyosis29.9STS
15gynecomastia29.9SHBG, GNRH1, AR, CGA
16germ cell cancer29.9AR, CGA
17alopecia29.8SHBG, AR
18short stature29.7SHBG, STS, GNRH1
19breast cancer29.6STS, SHBG, AR, GNRH1
20hypogonadism29.5CGA, STS, SHBG, GNRH1, AR, NR5A1
21malignant tumor of undescended testis10.4
22mature teratoma10.4
23seminoma10.3
24torticollis keloids cryptorchidism renal dysplasia10.3
25epididymitis10.3
26hydrocele10.3
27germ cell tumors10.3
28testicular microlithiasis10.2
29cystic fibrosis10.1
30focal segmental glomerulosclerosis10.1
31orchitis10.1
32pseudotumor cerebri10.1
33wagr syndrome10.1
34epididymo-orchitis10.1
35malignant teratoma10.1
36pseudohypoaldosteronism type ii10.1
37filippi syndrome10.1
38kallmann syndrome 110.1
39hemihypertrophy10.1
40epispadias10.1
41renal agenesis10.1
42sertoli cell tumor10.1
43persistent mullerian duct syndrome10.1
44prostatitis10.1
45anophthalmia esophageal atresia cryptorchidism10.1
46anorchia10.1
47omphalocele10.1
48sertoli cell-only syndrome10.1DAZ1
49dextrocardia10.1
50ureterocele10.1

Graphical network of the top 20 diseases related to Cryptorchidism:



Diseases related to cryptorchidism

Symptoms for Cryptorchidism

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47OMIM
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Symptoms by clinical synopsis from OMIM:

219050

Clinical features from OMIM:

219050

Drugs & Therapeutics for Cryptorchidism

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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Cryptorchidism

Search NIH Clinical Center for Cryptorchidism

Genetic Tests for Cryptorchidism

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Anatomical Context for Cryptorchidism

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33MalaCards
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MalaCards organs/tissues related to Cryptorchidism:

33
Testis, Testes, Pituitary, Breast, Heart, Prostate, Placenta, Appendix, Brain, Kidney, Thyroid, Colon, Hypothalamus

Animal Models for Cryptorchidism or affiliated genes

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37MGI
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MGI Mouse Phenotypes related to Cryptorchidism:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7AR, RXFP2, AMH, GNRH1
2MP:00053908.1HOXA10, INSL3, GNRH1, RXFP2, AR
3MP:00053797.2AR, HOXA10, INSL3, GNRH1, AMH, RXFP2
4MP:00053897.1HOXA10, INSL3, GNRH1, AMH, RXFP2, NR5A1

Publications for Cryptorchidism

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52PubMed
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Articles related to Cryptorchidism:

(show top 50)    (show all 576)
idTitleAuthorsYear
1
Early Prenatal Detection of an Intra-abdominal Cryptorchid Testicular Teratoma. (24054441)
2014
2
A genome-wide association study for canine cryptorchidism in Siberian Huskies. (24268032)
2013
3
No association between exposure to perfluorinated compounds and congenital cryptorchidism: a nested case-control study among 215 boys from Denmark and Finland. (24218628)
2013
4
Improved Sperm Count and Motility in Young Men Surgically Treated for Cryptorchidism in the First Year of Life. (23852722)
2013
5
Cryptorchidism and testicular germ cell tumors: comprehensive meta-analysis reveals that association between these conditions diminished over time and is modified by clinical characteristics. (23423470)
2012
6
Management of cryptorchidism: a survey of clinical practice in Italy. (22233418)
2012
7
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
8
Comment on "Serum AMH concentration as a marker evaluating gonadal function in boys operated on for unilateral cryptorchidism between 1st and 4th year of life". (22234386)
2012
9
Is laparoscopic re-evaluation justified in cryptorchidism with previous negative open exploration? (22168768)
2012
10
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
11
Laparoscopic testicular preservation in adults with intra-abdominal cryptorchidism: is it beneficial? (23227040)
2012
12
Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. (22648180)
2012
13
History of cryptorchidism and ejaculate volume as simple predictors for the presence of testicular sperm. (21284574)
2011
14
Impact of anatomical and socioeconomic factors on timing of urological consultation for boys with cryptorchidism. (21855921)
2011
15
Diagnostic performance of ultrasound in nonpalpable cryptorchidism: a systematic review and meta-analysis. (21149435)
2011
16
A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism. (20963592)
2010
17
Variations in timing of surgery among boys who underwent orchidopexy for cryptorchidism. (20732947)
2010
18
Splenogonadal fusion presented with cryptorchidism. (19472134)
2009
19
Cryptorchidism with short spermatic vessels: staged orchiopexy preserving spermatic vessels. (19625047)
2009
20
Posterior urethral valves are often associated with cryptorchidism and inguinal hernias. (18554641)
2008
21
Maternal diet and the risk of hypospadias and cryptorchidism in the offspring. (18426520)
2008
22
Studies of cryptorchidism in experimental animal models. (17462054)
2007
23
Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism. (17666478)
2007
24
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
25
Cryptorchidism: classification, prevalence and long-term consequences. (17462053)
2007
26
Efficacy and safety of hormonal treatment of cryptorchidism: current state of the art. (17462056)
2007
27
Mild gestational diabetes as a risk factor for congenital cryptorchidism. (17032715)
2006
28
Persistent pesticides in human breast milk and cryptorchidism. (16835070)
2006
29
Germ cell apoptosis induced by experimental cryptorchidism is mediated by multiple molecular pathways in Cynomolgus Macaque. (16146798)
2006
30
The incidence of bilateral cryptorchidism is increased and the fertility potential is reduced in sons born to mothers who have smoked during pregnancy. (16813933)
2006
31
Cryopreservation of intact testicular tissue from boys with cryptorchidism. (16210383)
2006
32
Congenital Spigelian hernia with cryptorchidism: probably a new syndrome. (15782280)
2005
33
Role of INSL3 and LGR8 in cryptorchidism and testicular functions. (15353080)
2004
34
Maternal and paternal risk factors for cryptorchidism and hypospadias: a case-control study in newborn boys. (15531444)
2004
35
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. (12970298)
2003
36
Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. (14656401)
2003
37
Absence of microdeletions in the Y chromosome in patients with Prader-Willi syndrome with cryptorchidism. (11869370)
2002
38
Cryptorchidism. (12518213)
2002
39
Leydig cell function after cryptorchidism: evidence of the beneficial result of early surgery. (11912442)
2002
40
Cryptorchidism: aspects of fertility and neoplasms. A study including data of 1,335 consecutive boys who underwent testicular biopsy simultaneously with surgery for cryptorchidism. (11423738)
2001
41
Controversy in cryptorchidism: the value of laparoscopy and fertility outcomes. (11397487)
2001
42
Comparative studies of fertility and histologic development of contralateral scrotal testes in two rat models of unilateral cryptorchidism. (11057551)
2000
43
Decreased expression of mouse Rbm3, a cold-shock protein, in Sertoli cells of cryptorchid testis. (10793079)
2000
44
Absence of microdeletions in the Y chromosome in patients with a history of cryptorchidism and azoospermia or oligospermia. (10202881)
1999
45
Association of epididymal anomalies with patent processus vaginalis in hernia, hydrocele and cryptorchidism. (8911389)
1996
46
Cryptorchidism in boys with imperforate anus. (7595851)
1995
47
Cryptorchidism]. (1361054)
1992
48
Evidence in favor of the mechanical (intrauterine torsion) theory over the endocrinopathy (cryptorchidism) theory in the pathogenesis of testicular agenesis. (1677689)
1991
49
X-linked ichthyosis and cryptorchidism. (2874061)
1986
50
Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris. (6122644)
1982

Variations for Cryptorchidism

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64UniProtKB/Swiss-Prot, 7dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Cryptorchidism:

64
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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2BioGPS, 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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50PathCards, 60Thomson Reuters, 55Reactome, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Cryptorchidism

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45Novoseek, 29IUPHAR, 11DrugBank, 51PharmGKB, 61Tocris Bioscience, 24HMDB
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Compounds related to Cryptorchidism according to GeneCards/GeneDecks:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1phthalate esters459.9INSL3, AR
2deslorelin459.8CGA, GNRH1
3pergonal459.7GNRH1, CGA
4metrodin459.7GNRH1, CGA
5altrenogest459.7CGA, GNRH1
6antarelix45 2910.7CGA, GNRH1
7ganirelix45 2910.6GNRH1, CGA
8epitestosterone459.5CGA, SHBG
9dydrogesterone45 29 1111.4STS, CGA
10norelgestromin45 51 1111.4AR, STS
11(+-)-pgf2-alpha459.3GNRH1, NR5A1, CGA
12leuprolide45 61 29 1112.3AR, GNRH1, CGA
13chlormadinone acetate459.2AR, SHBG
14d-trp6-lhrh459.1CGA, GNRH1
15fluoxymesterone45 1110.1SHBG, AR
16steroidal459.1GNRH1, STS, AR
17hydroxyflutamide45 2910.1AR, CGA, SHBG
18androstenediol459.0AR, STS, SHBG
19goserelin45 29 1111.0SHBG, GNRH1, CGA
20leuprolide acetate459.0SHBG, CGA, GNRH1
21clomiphene citrate459.0GNRH1, SHBG, CGA
2217beta-hydroxysteroid459.0CGA, AR, STS, NR5A1
2317-hydroxyprogesterone45 2410.0SHBG, GNRH1, CGA
24tibolone458.9GNRH1, SHBG, STS
25cyproteroneacetate458.9SHBG, GNRH1, AR
26spironolactone45 61 29 51 1112.8GNRH1, AR, SHBG
27bromocriptine45 29 1110.8CGA, SHBG, GNRH1
28metformin45 51 1110.7CGA, GNRH1, SHBG
293beta-hydroxysteroid458.7NR5A1, STS, INSL3, AR, CGA
30letrozole45 51 61 1111.6STS, SHBG, AR, CGA
31dhea458.5AR, SHBG, STS, NR5A1
32flutamide45 61 1110.5AR, CGA, SHBG, GNRH1
33androstenedione45 249.5AR, GNRH1, SHBG, CGA
34danazol45 24 1110.4STS, SHBG, GNRH1, AR
35progestins458.4GNRH1, SHBG, STS, AR
36epinephrine45 24 1110.3GNRH1, AR, CGA, SHBG
37mifepristone45 29 61 1111.2CGA, GNRH1, AMH, AR, SHBG
38gnrh458.0GNRH1, SHBG, NR5A1, CGA, AR
39progestin458.0AR, CGA, STS, GNRH1, SHBG
40dihydrotestosterone45 29 24 1111.0GNRH1, CGA, AR, STS, SHBG
41estrone45 29 24 1111.0SHBG, AR, GNRH1, STS, NR5A1
42adenylate457.9CGA, SHBG, GNRH1, NR5A1, AR
43tamoxifen45 51 29 1110.6GNRH1, SHBG, AMH, STS, CGA, AR
44dehydroepiandrosterone sulfate457.6GNRH1, SHBG, STS, NR5A1, CGA, AR
45diethylstilbestrol45 29 119.5AR, CGA, NR5A1, SHBG, GNRH1, INSL3
46steroid456.9STS, NR5A1, CGA, AR, SHBG, INSL3
47estradiol45 24 118.8STS, NR5A1, CGA, AR, GNRH1, HOXA10
48progesterone45 29 61 24 1110.8AR, CGA, NR5A1, STS, AMH, SHBG
49estrogen456.6AMH, HOXA10, AR, INSL3, GNRH1, SHBG
50testosterone45 61 24 119.3STS, HOXA10, DAZ1, GNRH1, SHBG, AMH

GO Terms for genes affiliated with Cryptorchidism

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16Gene Ontology
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Cellular components related to Cryptorchidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:0055768.0CGA, AMH, SHBG, GNRH1, INSL3

Biological processes related to Cryptorchidism according to GeneCards/GeneDecks:

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oocyte maturationGO:00155610.1RXFP2, INSL3
2positive regulation of cAMP biosynthetic processGO:0308199.9RXFP2, INSL3
3adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:0071939.8INSL3, RXFP2
4sex differentiationGO:0075489.7AMH, AR
5male gonad developmentGO:0085849.6INSL3, RXFP2, NR5A1
6intracellular receptor signaling pathwayGO:0305229.6AR, NR5A1
7negative regulation of cell proliferationGO:0082859.3RXFP2, GNRH1, INSL3
8spermatogenesisGO:0072839.2INSL3, DAZ1, HOXA10
9cell-cell signalingGO:0072678.0AR, CGA, NR5A1, AMH, GNRH1, INSL3

Molecular functions related to Cryptorchidism according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:0051029.3AR, AMH, INSL3
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:0048799.2AR, NR5A1
3androgen bindingGO:0054979.0SHBG, AR
4hormone activityGO:0051798.8CGA, AMH, GNRH1, INSL3

Products for genes affiliated with Cryptorchidism

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Sources for Cryptorchidism

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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet