MCID: CRY002
MIFTS: 57

Cryptorchidism malady

Genetic diseases (common), Reproductive diseases categories

Summaries for Cryptorchidism

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OMIM:45 Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial... (219050) more...

MalaCards based summary: Cryptorchidism, also known as undescended testicles, is related to hypospadias and oligospermia, and has symptoms including cryptorchidismand renal agenesis. 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.

Wikipedia:63 Cryptorchidism (derived from the Greek ???????, kryptos, meaning hidden ?????, orchis, meaning testicle)... more...

Aliases & Classifications for Cryptorchidism

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Cryptorchidism, Aliases & Descriptions:

Name: Cryptorchidism 45 9 10 11 43
Undescended Testicles 9
Undescended Testicle 9
 
Undescended Testis 9
Cryptorchism 9


Classifications:

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


External Ids:

OMIM45 219050
Disease Ontology9 DOID:11383
ICD9CM27 752.51
MeSH33 D003456
NCIt38 C12326
ICD1025 Q53, Q53.1, Q53.2

Related Diseases for Cryptorchidism

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Diseases related to Cryptorchidism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 580)
idRelated DiseaseScoreTop Affiliating Genes
1hypospadias30.8INSL3, AR, CGA, NR5A1
2oligospermia30.4DAZ1
3pseudohermaphroditism30.4AR, AMH
4ichthyosis, x-linked30.4STS
5hermaphroditism30.4AMH
6testicular cancer30.0RXFP2, INSL3, AZF1, CGA, SHBG
7leydig cell tumor30.0CGA, NR5A1, GNRH1
8germ cell cancer30.0AR, CGA
9male infertility29.9GNRH1, SHBG, AR
10mental retardation29.8STS, AR, SHBG
11obesity29.7SHBG, NR5A1, AR, INSL3
12congenital adrenal hyperplasia29.7NR5A1, GNRH1
13complete androgen insensitivity syndrome29.7AR, SHBG
14androgen insensitivity, partial, with or without breast cancer29.7AR, SHBG
15varicocele29.6CGA, SHBG, GNRH1, AZF1
16kallmann syndrome29.5NR5A1, STS, GNRH1, CGA
17alopecia29.5SHBG, AR
18androgen insensitivity29.5CGA, SHBG, AR
19gynecomastia29.3SHBG, GNRH1, AR, CGA
20klinefelter's syndrome29.1CGA, AR, NR5A1, SHBG, GNRH1, AZF1
21azoospermia28.9AMH, CGA, AR, SHBG, GNRH1, INSL3
22breast cancer28.9STS, SHBG, AR, GNRH1
23infertility28.5DAZ1, AZF1, INSL3, AR, CGA, NR5A1
24hypogonadism28.4CGA, STS, SHBG, GNRH1, AR, NR5A1
25malignant tumor of undescended testis10.6
26mature teratoma10.5
27sertoli cell-only syndrome10.5DAZ1
28smith-magenis syndrome10.3AZF1, DAZ1
29testicular disease10.3CGA, INSL3
30torticollis keloids cryptorchidism renal dysplasia10.3
31seminoma10.2
32epididymitis10.2
33anencephaly10.2STS, CGA
34hypothalamic disease10.2CGA, GNRH1
35cystic fibrosis10.2
36focal segmental glomerulosclerosis10.2
37pseudotumor cerebri10.2
38malignant teratoma10.2
39epispadias10.2
40gonadal disease10.2GNRH1, NR5A1
41ovarian cyst10.2CGA, GNRH1
42hydrocele10.2
43ovarian hyperstimulation syndrome10.1GNRH1, CGA
44eagle-barrett syndrome10.1
45klippel-trenaunay-weber syndrome10.1
46inflammatory myofibroblastic tumor10.1
47dextrocardia10.1
48orchitis10.1
49follicular dendritic cell sarcoma10.1
50ureterocele10.1

Graphical network of the top 20 diseases related to Cryptorchidism:



Diseases related to cryptorchidism

Symptoms for Cryptorchidism

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Symptoms by clinical synopsis from OMIM:

219050

Clinical features from OMIM:

219050

HPO human phenotypes related to Cryptorchidism:

id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 renal agenesis HP:0000104

Drugs & Therapeutics for Cryptorchidism

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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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MalaCards organs/tissues related to Cryptorchidism:

31
Testis, Testes, Pituitary, Breast, Brain, Heart, Placenta, Prostate, Kidney, Appendix, Colon, Thyroid, Hypothalamus

Animal Models for Cryptorchidism or affiliated genes

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MGI Mouse Phenotypes related to Cryptorchidism:

35
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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Articles related to Cryptorchidism:

(show top 50)    (show all 616)
idTitleAuthorsYear
1
The variations in the AXIN1 gene and susceptibility to cryptorchidism. (25802106)
2015
2
Snapshots in surgery: incidentally discovered cryptorchidism. (25614818)
2014
3
The management of bilateral cryptorchidism in the adult man: report of two cases. (25407156)
2014
4
Early Prenatal Detection of an Intra-abdominal Cryptorchid Testicular Teratoma. (24054441)
2014
5
Idiopathic scrotal hematoma simulating a testicular torsion, in association with cryptorchidism: US findings. (25061495)
2014
6
Epididymal-testicular fusion anomalies in cryptorchidism are associated with proximal location of the undescended testis and with a widely patent processus vaginalis. (25048056)
2014
7
A genome-wide association study for canine cryptorchidism in Siberian Huskies. (24268032)
2013
8
No association between exposure to perfluorinated compounds and congenital cryptorchidism: a nested case-control study among 215 boys from Denmark and Finland. (24218628)
2013
9
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
10
Management of cryptorchidism: a survey of clinical practice in Italy. (22233418)
2012
11
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
12
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
13
Is laparoscopic re-evaluation justified in cryptorchidism with previous negative open exploration? (22168768)
2012
14
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
15
Laparoscopic testicular preservation in adults with intra-abdominal cryptorchidism: is it beneficial? (23227040)
2012
16
Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. (22648180)
2012
17
History of cryptorchidism and ejaculate volume as simple predictors for the presence of testicular sperm. (21284574)
2011
18
Impact of anatomical and socioeconomic factors on timing of urological consultation for boys with cryptorchidism. (21855921)
2011
19
Diagnostic performance of ultrasound in nonpalpable cryptorchidism: a systematic review and meta-analysis. (21149435)
2011
20
A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism. (20963592)
2010
21
Variations in timing of surgery among boys who underwent orchidopexy for cryptorchidism. (20732947)
2010
22
Splenogonadal fusion presented with cryptorchidism. (19472134)
2009
23
Cryptorchidism with short spermatic vessels: staged orchiopexy preserving spermatic vessels. (19625047)
2009
24
Posterior urethral valves are often associated with cryptorchidism and inguinal hernias. (18554641)
2008
25
Maternal diet and the risk of hypospadias and cryptorchidism in the offspring. (18426520)
2008
26
Studies of cryptorchidism in experimental animal models. (17462054)
2007
27
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
28
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
29
Cryptorchidism: classification, prevalence and long-term consequences. (17462053)
2007
30
Mild gestational diabetes as a risk factor for congenital cryptorchidism. (17032715)
2006
31
Persistent pesticides in human breast milk and cryptorchidism. (16835070)
2006
32
Germ cell apoptosis induced by experimental cryptorchidism is mediated by multiple molecular pathways in Cynomolgus Macaque. (16146798)
2006
33
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
34
Congenital Spigelian hernia with cryptorchidism: probably a new syndrome. (15782280)
2005
35
Role of INSL3 and LGR8 in cryptorchidism and testicular functions. (15353080)
2004
36
Maternal and paternal risk factors for cryptorchidism and hypospadias: a case-control study in newborn boys. (15531444)
2004
37
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. (12970298)
2003
38
Lack of LGR8 gene mutation in Finnish patients with a family history of cryptorchidism. (14656401)
2003
39
Absence of microdeletions in the Y chromosome in patients with Prader-Willi syndrome with cryptorchidism. (11869370)
2002
40
Cryptorchidism. (12518213)
2002
41
Leydig cell function after cryptorchidism: evidence of the beneficial result of early surgery. (11912442)
2002
42
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
43
Controversy in cryptorchidism: the value of laparoscopy and fertility outcomes. (11397487)
2001
44
Cryptorchidism and Hypospadias (25905331)
2000
45
Absence of microdeletions in the Y chromosome in patients with a history of cryptorchidism and azoospermia or oligospermia. (10202881)
1999
46
Association of epididymal anomalies with patent processus vaginalis in hernia, hydrocele and cryptorchidism. (8911389)
1996
47
Cryptorchidism in boys with imperforate anus. (7595851)
1995
48
Cryptorchidism]. (1361054)
1992
49
Evidence in favor of the mechanical (intrauterine torsion) theory over the endocrinopathy (cryptorchidism) theory in the pathogenesis of testicular agenesis. (1677689)
1991
50
X-linked ichthyosis and cryptorchidism. (2874061)
1986

Variations for Cryptorchidism

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UniProtKB/Swiss-Prot 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

Clinvar genetic disease variations for Cryptorchidism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1INSL3NM_005543.3(INSL3): c.330C> G (p.Asn110Lys)single nucleotide variantPathogenicrs121912555GRCh37Chr 19, 17927729: 17927729
2INSL3NM_005543.3(INSL3): c.278C> T (p.Pro93Leu)single nucleotide variantPathogenicrs104894697GRCh37Chr 19, 17927781: 17927781
3INSL3NM_005543.3(INSL3): c.304C> T (p.Arg102Cys)single nucleotide variantPathogenicrs104894698GRCh37Chr 19, 17927755: 17927755
4INSL3NM_005543.3(INSL3): c.305G> A (p.Arg102His)single nucleotide variantPathogenicrs121912556GRCh37Chr 19, 17927754: 17927754
5INSL3NM_005543.3(INSL3): c.217C> T (p.Arg73Ter)single nucleotide variantPathogenicrs398122886GRCh37Chr 19, 17927842: 17927842
6RXFP2NM_130806.3(RXFP2): c.664A> C (p.Thr222Pro)single nucleotide variantPathogenicrs121918303GRCh37Chr 13, 32351535: 32351535

Expression for genes affiliated with Cryptorchidism

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Search GEO for disease gene expression data for Cryptorchidism.

Pathways for genes affiliated with Cryptorchidism

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Compounds for genes affiliated with Cryptorchidism

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Compounds related to Cryptorchidism according to GeneCards Suite gene sharing:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1phthalate esters439.9INSL3, AR
2deslorelin439.8CGA, GNRH1
3pergonal439.7GNRH1, CGA
4metrodin439.7GNRH1, CGA
5altrenogest439.7CGA, GNRH1
6antarelix43 2810.7CGA, GNRH1
7ganirelix43 2810.6GNRH1, CGA
8epitestosterone439.5CGA, SHBG
9dydrogesterone43 28 1211.4STS, CGA
10norelgestromin43 49 1211.4AR, STS
11(+-)-pgf2-alpha439.3GNRH1, NR5A1, CGA
12leuprolide43 59 28 1212.3AR, GNRH1, CGA
13chlormadinone acetate439.2AR, SHBG
14d-trp6-lhrh439.1CGA, GNRH1
15fluoxymesterone43 1210.1SHBG, AR
16steroidal439.1GNRH1, STS, AR
17hydroxyflutamide43 2810.1AR, CGA, SHBG
18androstenediol439.0AR, STS, SHBG
19goserelin43 28 1211.0SHBG, GNRH1, CGA
20leuprolide acetate439.0SHBG, CGA, GNRH1
21clomiphene citrate439.0GNRH1, SHBG, CGA
2217beta-hydroxysteroid439.0CGA, AR, STS, NR5A1
2317-hydroxyprogesterone43 2410.0SHBG, GNRH1, CGA
24tibolone438.9GNRH1, SHBG, STS
25cyproteroneacetate438.9SHBG, GNRH1, AR
26spironolactone43 59 28 49 1212.8GNRH1, AR, SHBG
27bromocriptine43 28 1210.8CGA, SHBG, GNRH1
28metformin43 49 1210.7CGA, GNRH1, SHBG
293beta-hydroxysteroid438.7NR5A1, STS, INSL3, AR, CGA
30letrozole43 49 59 1211.6STS, SHBG, AR, CGA
31dhea438.5AR, SHBG, STS, NR5A1
32flutamide43 59 1210.5AR, CGA, SHBG, GNRH1
33androstenedione43 249.5AR, GNRH1, SHBG, CGA
34danazol43 24 1210.4STS, SHBG, GNRH1, AR
35progestins438.4GNRH1, SHBG, STS, AR
36epinephrine43 24 1210.3GNRH1, AR, CGA, SHBG
37mifepristone43 28 59 1211.2CGA, GNRH1, AMH, AR, SHBG
38gnrh438.0GNRH1, SHBG, NR5A1, CGA, AR
39progestin438.0AR, CGA, STS, GNRH1, SHBG
40dihydrotestosterone43 28 24 1211.0GNRH1, CGA, AR, STS, SHBG
41estrone43 28 24 1211.0SHBG, AR, GNRH1, STS, NR5A1
42adenylate437.9CGA, SHBG, GNRH1, NR5A1, AR
43tamoxifen43 49 28 1210.6GNRH1, SHBG, AMH, STS, CGA, AR
44dehydroepiandrosterone sulfate437.6GNRH1, SHBG, STS, NR5A1, CGA, AR
45diethylstilbestrol43 28 129.5AR, CGA, NR5A1, SHBG, GNRH1, INSL3
46steroid436.9STS, NR5A1, CGA, AR, SHBG, INSL3
47estradiol43 24 128.8STS, NR5A1, CGA, AR, GNRH1, HOXA10
48progesterone43 28 59 24 1210.8AR, CGA, NR5A1, STS, AMH, SHBG
49estrogen436.6AMH, HOXA10, AR, INSL3, GNRH1, SHBG
50testosterone43 59 24 129.3STS, HOXA10, DAZ1, GNRH1, SHBG, AMH

GO Terms for genes affiliated with Cryptorchidism

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

idNameGO IDScoreTop Affiliating Genes
1extracellular regionGO:00055768.0CGA, AMH, SHBG, GNRH1, INSL3

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1oocyte maturationGO:000155610.1RXFP2, INSL3
2positive regulation of cAMP biosynthetic processGO:00308199.9RXFP2, INSL3
3adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00071939.8INSL3, RXFP2
4sex differentiationGO:00075489.7AMH, AR
5male gonad developmentGO:00085849.6INSL3, RXFP2, NR5A1
6intracellular receptor signaling pathwayGO:00305229.6AR, NR5A1
7negative regulation of cell proliferationGO:00082859.3RXFP2, GNRH1, INSL3
8spermatogenesisGO:00072839.2INSL3, DAZ1, HOXA10
9cell-cell signalingGO:00072678.0AR, CGA, NR5A1, AMH, GNRH1, INSL3

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

idNameGO IDScoreTop Affiliating Genes
1receptor bindingGO:00051029.3AR, AMH, INSL3
2ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activityGO:00048799.2AR, NR5A1
3androgen bindingGO:00054979.0SHBG, AR
4hormone activityGO:00051798.8CGA, AMH, GNRH1, INSL3

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