MCID: CRY002
MIFTS: 63

Cryptorchidism malady

Genetic diseases (common), Reproductive diseases categories

Summaries for Cryptorchidism

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OMIM:46 Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial... (219050) more...

MalaCards based summary: Cryptorchidism, also known as testicular dysfunction, is related to hypospadias and pseudohermaphroditism, 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:64 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 9 10 46 11 44
Testicular Dysfunction 61
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:

Disease Ontology9 DOID:11383
NCIt39 C12326
ICD9CM28 752.51
OMIM46 219050
MeSH34 D003456
ICD1026 Q53, Q53.1, Q53.2

Related Diseases for Cryptorchidism

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

(show top 50)    (show all 184)
idRelated DiseaseScoreTop Affiliating Genes
1hypospadias31.0INSL3, AR, CGA, NR5A1
2pseudohermaphroditism30.6AR, AMH
3oligospermia30.6DAZ1
4x-linked ichthyosis30.6STS
5hermaphroditism30.6AMH
6testicular cancer30.3RXFP2, INSL3, AZF1, CGA, SHBG
7leydig cell tumor30.2CGA, NR5A1, GNRH1
8germ cell cancer30.1AR, CGA
9male infertility30.1GNRH1, SHBG, AR
10mental retardation29.9STS, AR, SHBG
11obesity29.9SHBG, NR5A1, AR, INSL3
12varicocele29.8CGA, SHBG, GNRH1, AZF1
13alopecia29.7SHBG, AR
14short stature29.7SHBG, STS, GNRH1
15gynecomastia29.5SHBG, GNRH1, AR, CGA
16klinefelter's syndrome29.3CGA, AR, NR5A1, SHBG, GNRH1, AZF1
17azoospermia29.1AMH, CGA, AR, SHBG, GNRH1, INSL3
18breast cancer29.1STS, SHBG, AR, GNRH1
19infertility28.8DAZ1, AZF1, INSL3, AR, CGA, NR5A1
20hypogonadism28.7CGA, STS, SHBG, GNRH1, AR, NR5A1
21malignant tumor of undescended testis10.5
22mature teratoma10.5
23sertoli cell-only syndrome10.5DAZ1
24seminoma10.4
25torticollis keloids cryptorchidism renal dysplasia10.4
26smith magenis syndrome10.4AZF1, DAZ1
27testicular disease10.3CGA, INSL3
28epididymitis10.3
29germ cell tumors10.3
30hydrocele10.2
31anencephaly10.2STS, CGA
32hypothalamic disease10.2CGA, GNRH1
33testicular microlithiasis10.2
34ovarian cyst10.2CGA, GNRH1
35gonadal disease10.2GNRH1, NR5A1
36ovarian hyperstimulation syndrome10.2GNRH1, CGA
37cystic fibrosis10.2
38focal segmental glomerulosclerosis10.2
39wagr syndrome10.2
40pseudotumor cerebri10.2
41malignant teratoma10.2
42pseudohypoaldosteronism type ii10.2
43filippi syndrome10.2
44kallmann syndrome 110.2
45hemihypertrophy10.2
46epispadias10.2
47aorta atresia10.1CGA, GNRH1
48prostatic hypertrophy10.1AR, GNRH1
49renal agenesis10.1
50persistent mullerian duct syndrome10.1

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:

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

Animal Models for Cryptorchidism or affiliated genes

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MGI Mouse Phenotypes related to Cryptorchidism:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00020068.7AR, RXFP2, AMH, GNRH1
2MP:00053908.1HOXA10, INSL3, GNRH1, RXFP2, AR
3MP:00053797.2NR5A1, CGA, AR, RXFP2, AMH, GNRH1
4MP:00053897.1HOXA10, INSL3, GNRH1, AMH, RXFP2, NR5A1

Publications for Cryptorchidism

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Articles related to Cryptorchidism:

(show top 50)    (show all 597)
idTitleAuthorsYear
1
The management of bilateral cryptorchidism in the adult man: report of two cases. (25407156)
2014
2
Early Prenatal Detection of an Intra-abdominal Cryptorchid Testicular Teratoma. (24054441)
2014
3
Idiopathic scrotal hematoma simulating a testicular torsion, in association with cryptorchidism: US findings. (25061495)
2014
4
Epididymal-testicular fusion anomalies in cryptorchidism are associated with proximal location of the undescended testis and with a widely patent processus vaginalis. (25048056)
2014
5
A genome-wide association study for canine cryptorchidism in Siberian Huskies. (24268032)
2013
6
No association between exposure to perfluorinated compounds and congenital cryptorchidism: a nested case-control study among 215 boys from Denmark and Finland. (24218628)
2013
7
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
8
Management of cryptorchidism: a survey of clinical practice in Italy. (22233418)
2012
9
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
10
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
11
Is laparoscopic re-evaluation justified in cryptorchidism with previous negative open exploration? (22168768)
2012
12
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
13
Laparoscopic testicular preservation in adults with intra-abdominal cryptorchidism: is it beneficial? (23227040)
2012
14
Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias. (22648180)
2012
15
History of cryptorchidism and ejaculate volume as simple predictors for the presence of testicular sperm. (21284574)
2011
16
Impact of anatomical and socioeconomic factors on timing of urological consultation for boys with cryptorchidism. (21855921)
2011
17
Diagnostic performance of ultrasound in nonpalpable cryptorchidism: a systematic review and meta-analysis. (21149435)
2011
18
A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism. (20963592)
2010
19
Variations in timing of surgery among boys who underwent orchidopexy for cryptorchidism. (20732947)
2010
20
Splenogonadal fusion presented with cryptorchidism. (19472134)
2009
21
Cryptorchidism with short spermatic vessels: staged orchiopexy preserving spermatic vessels. (19625047)
2009
22
Posterior urethral valves are often associated with cryptorchidism and inguinal hernias. (18554641)
2008
23
Maternal diet and the risk of hypospadias and cryptorchidism in the offspring. (18426520)
2008
24
Studies of cryptorchidism in experimental animal models. (17462054)
2007
25
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
26
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
27
Cryptorchidism: classification, prevalence and long-term consequences. (17462053)
2007
28
Efficacy and safety of hormonal treatment of cryptorchidism: current state of the art. (17462056)
2007
29
Mild gestational diabetes as a risk factor for congenital cryptorchidism. (17032715)
2006
30
Persistent pesticides in human breast milk and cryptorchidism. (16835070)
2006
31
Germ cell apoptosis induced by experimental cryptorchidism is mediated by multiple molecular pathways in Cynomolgus Macaque. (16146798)
2006
32
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
33
Cryopreservation of intact testicular tissue from boys with cryptorchidism. (16210383)
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
Comparative studies of fertility and histologic development of contralateral scrotal testes in two rat models of unilateral cryptorchidism. (11057551)
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:

63
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:

7
id Gene Name 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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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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Compounds for genes affiliated with Cryptorchidism

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Compounds related to Cryptorchidism according to GeneCards/GeneDecks:

(show top 50)    (show all 102)
idCompoundScoreTop Affiliating Genes
1phthalate esters449.9INSL3, AR
2deslorelin449.8CGA, GNRH1
3pergonal449.7GNRH1, CGA
4metrodin449.7GNRH1, CGA
5altrenogest449.7CGA, GNRH1
6antarelix44 2910.7CGA, GNRH1
7ganirelix44 2910.6GNRH1, CGA
8epitestosterone449.5CGA, SHBG
9dydrogesterone44 29 1211.4STS, CGA
10norelgestromin44 50 1211.4AR, STS
11(+-)-pgf2-alpha449.3GNRH1, NR5A1, CGA
12leuprolide44 60 29 1212.3AR, GNRH1, CGA
13chlormadinone acetate449.2AR, SHBG
14d-trp6-lhrh449.1CGA, GNRH1
15fluoxymesterone44 1210.1SHBG, AR
16steroidal449.1GNRH1, STS, AR
17hydroxyflutamide44 2910.1AR, CGA, SHBG
18androstenediol449.0AR, STS, SHBG
19goserelin44 29 1211.0SHBG, GNRH1, CGA
20leuprolide acetate449.0SHBG, CGA, GNRH1
21clomiphene citrate449.0GNRH1, SHBG, CGA
2217beta-hydroxysteroid449.0CGA, AR, STS, NR5A1
2317-hydroxyprogesterone44 2510.0SHBG, GNRH1, CGA
24tibolone448.9GNRH1, SHBG, STS
25cyproteroneacetate448.9SHBG, GNRH1, AR
26spironolactone44 60 29 50 1212.8GNRH1, AR, SHBG
27bromocriptine44 29 1210.8CGA, SHBG, GNRH1
28metformin44 50 1210.7CGA, GNRH1, SHBG
293beta-hydroxysteroid448.7NR5A1, STS, INSL3, AR, CGA
30letrozole44 50 60 1211.6STS, SHBG, AR, CGA
31dhea448.5AR, SHBG, STS, NR5A1
32flutamide44 60 1210.5AR, CGA, SHBG, GNRH1
33androstenedione44 259.5AR, GNRH1, SHBG, CGA
34danazol44 25 1210.4STS, SHBG, GNRH1, AR
35progestins448.4GNRH1, SHBG, STS, AR
36epinephrine44 25 1210.3GNRH1, AR, CGA, SHBG
37mifepristone44 29 60 1211.2CGA, GNRH1, AMH, AR, SHBG
38gnrh448.0GNRH1, SHBG, NR5A1, CGA, AR
39progestin448.0AR, CGA, STS, GNRH1, SHBG
40dihydrotestosterone44 29 25 1211.0GNRH1, CGA, AR, STS, SHBG
41estrone44 29 25 1211.0SHBG, AR, GNRH1, STS, NR5A1
42adenylate447.9CGA, SHBG, GNRH1, NR5A1, AR
43tamoxifen44 50 29 1210.6GNRH1, SHBG, AMH, STS, CGA, AR
44dehydroepiandrosterone sulfate447.6GNRH1, SHBG, STS, NR5A1, CGA, AR
45diethylstilbestrol44 29 129.5AR, CGA, NR5A1, SHBG, GNRH1, INSL3
46steroid446.9STS, NR5A1, CGA, AR, SHBG, INSL3
47estradiol44 25 128.8STS, NR5A1, CGA, AR, GNRH1, HOXA10
48progesterone44 29 60 25 1210.8AR, CGA, NR5A1, STS, AMH, SHBG
49estrogen446.6AMH, HOXA10, AR, INSL3, GNRH1, SHBG
50testosterone44 60 25 129.3STS, HOXA10, DAZ1, GNRH1, SHBG, AMH

GO Terms for genes affiliated with Cryptorchidism

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Cellular components related to Cryptorchidism according to GeneCards/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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet