MCID: CRY035
MIFTS: 55

Cryptorchidism, Unilateral or Bilateral

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Cryptorchidism, Unilateral or Bilateral

MalaCards integrated aliases for Cryptorchidism, Unilateral or Bilateral:

Name: Cryptorchidism, Unilateral or Bilateral 57 40
Cryptorchidism 57 12 75 29 13 55 6 44 15
Undescended Testis 57 12
Impaired Testicular Descent 75
Undescended Testicles 12
Undescended Testicle 12
Cryptosporidiosis 73
Cryptorchism 12
Crypto 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
mutations are frequently maternally inherited


HPO:

32
cryptorchidism, unilateral or bilateral:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 219050
Disease Ontology 12 DOID:11383
ICD9CM 35 752.51
MeSH 44 D003456
NCIt 50 C12326
MedGen 42 C0010417
SNOMED-CT via HPO 69 263681008 204942005 268227001
UMLS 73 C0010417

Summaries for Cryptorchidism, Unilateral or Bilateral

OMIM : 57 Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement of endocrine, environmental, and hereditary factors. Cryptorchidism can result in infertility and increases risk for testicular tumors. Testicular descent from abdomen to scrotum occurs in 2 distinct phases: the transabdominal phase and the inguinoscrotal phase (summary by Gorlov et al., 2002). (219050)

MalaCards based summary : Cryptorchidism, Unilateral or Bilateral, also known as cryptorchidism, is related to persistent mullerian duct syndrome and hypospadias, and has symptoms including fever and pruritus. An important gene associated with Cryptorchidism, Unilateral or Bilateral is INSL3 (Insulin Like 3), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Hormone ligand-binding receptors. The drugs Propofol and Sevoflurane have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and bone, and related phenotypes are renal agenesis and unilateral cryptorchidism

UniProtKB/Swiss-Prot : 75 Cryptorchidism: One of the most frequent congenital abnormalities in humans, involving 2-5% of male births. Cryptorchidism is associated with increased risk of infertility and testicular cancer.

Wikipedia : 76 Cryptorchidism is the absence of one or both testes from the scrotum. The word is from the Greek... more...

Related Diseases for Cryptorchidism, Unilateral or Bilateral

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

(show top 50) (show all 106)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 32.9 AMH INSL3 NR5A1 WT1
2 hypospadias 31.4 AR INSL3 NR5A1 WT1
3 testicular cancer 31.3 CGA INSL3 RXFP2 SHBG
4 leydig cell tumor 31.2 CYP19A1 INSL3 NR5A1
5 infertility 31.0 CYP19A1 DAZ1 GNRH1 INSL3 NR5A1 RXFP2
6 malignant tumor of undescended testis 12.4
7 torticollis, keloids, cryptorchidism, and renal dysplasia 12.1
8 anophthalmia esophageal atresia cryptorchidism 11.9
9 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.9
10 spigelian hernia-cryptorchidism syndrome 11.9
11 prune belly syndrome 11.7
12 cryptosporidiosis 11.7
13 mcdonough syndrome 11.5
14 caudal appendage deafness 11.5
15 ifap syndrome with or without bresheck syndrome 11.5
16 fetal akinesia deformation sequence 11.4
17 testicular germ cell tumor 11.4
18 filippi syndrome 11.1
19 van benthem-driessen-hanveld syndrome 11.1
20 ritscher-schinzel syndrome 1 11.1
21 culler-jones syndrome 11.1
22 hypogonadotropic hypogonadism 11.0
23 47, xxy 11.0 AR SHBG
24 46,xy partial gonadal dysgenesis 11.0 NR5A1 WT1
25 physical disorder 11.0 AMH INSL3 RXFP2
26 endometriosis of ovary 11.0 AMH CYP19A1 HOXA10
27 penis agenesis 11.0 AR CGA GNRH1
28 frasier syndrome 10.9 AMH NR5A1 WT1
29 oocyte maturation defect 1 10.9 CGA CYP19A1
30 hypoactive sexual desire disorder 10.9 CYP19A1 SHBG
31 freemartinism 10.9 AMH GNRH1
32 multiple pterygium syndrome, escobar variant 10.9
33 androgen insensitivity, partial 10.9 AR CYP19A1 SHBG
34 postmenopausal atrophic vaginitis 10.9 AR SHBG
35 gonadal dysgenesis 10.9 AMH NR5A1 WT1
36 prostatic adenoma 10.9 AR SHBG
37 anorchia 10.9 CGA INSL3 NR5A1 RXFP2
38 46 xy gonadal dysgenesis 10.9 NR5A1 SHBG WT1
39 androgenic alopecia 10.9 AR CYP19A1 SHBG
40 amenorrhea 10.9 GNRH1 NR5A1 SHBG
41 testicular disease 10.9 CGA IGFL3 INSL3
42 male reproductive organ cancer 10.9 AR GNRH1 SHBG
43 hyperandrogenism 10.9 CYP19A1 GNRH1 SHBG
44 luteoma 10.8 CGA CYP19A1
45 endometriosis 10.8 CYP19A1 GNRH1 HOXA10 NR5A1
46 alopecia, androgenetic, 1 10.8 AR CYP19A1 SHBG STS
47 ovarian hyperstimulation syndrome 10.8 AMH CGA CYP19A1 GNRH1
48 androgen insensitivity syndrome 10.8 AR CGA NR5A1 SHBG
49 transsexualism 10.8 AR CYP19A1
50 complete androgen insensitivity syndrome 10.8 AR CGA CYP19A1 SHBG

Graphical network of the top 20 diseases related to Cryptorchidism, Unilateral or Bilateral:



Diseases related to Cryptorchidism, Unilateral or Bilateral

Symptoms & Phenotypes for Cryptorchidism, Unilateral or Bilateral

Symptoms via clinical synopsis from OMIM:

57
GenitourinaryInternal GenitaliaMale:
cryptorchidism, unilateral or bilateral
oligozoospermia, mild (in some patients)
normozoospermia (in some patients)


Clinical features from OMIM:

219050

Human phenotypes related to Cryptorchidism, Unilateral or Bilateral:

32
# Description HPO Frequency HPO Source Accession
1 renal agenesis 32 HP:0000104
2 unilateral cryptorchidism 32 HP:0012741

UMLS symptoms related to Cryptorchidism, Unilateral or Bilateral:


fever, pruritus

MGI Mouse Phenotypes related to Cryptorchidism, Unilateral or Bilateral:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10 INSL3 NR5A1 RXFP2 WT1 AMH AR
2 growth/size/body region MP:0005378 9.9 ANKRD11 AR CGA CYP19A1 FGFR1 GNRH1
3 reproductive system MP:0005389 9.77 AMH AR CGA CIRBP CYP19A1 FGFR1
4 skeleton MP:0005390 9.23 ANKRD11 AR CYP19A1 FGFR1 GNRH1 HOXA10

Drugs & Therapeutics for Cryptorchidism, Unilateral or Bilateral

Drugs for Cryptorchidism, Unilateral or Bilateral (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 72)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4,Not Applicable 2078-54-8 4943
2
Sevoflurane Approved, Vet_approved Phase 4,Phase 2,Not Applicable 28523-86-6 5206
3 Anesthetics Phase 4,Phase 2,Not Applicable
4 Anesthetics, General Phase 4,Phase 2,Not Applicable
5 Anesthetics, Intravenous Phase 4,Not Applicable
6 Central Nervous System Depressants Phase 4,Phase 2,Not Applicable
7 Hypnotics and Sedatives Phase 4,Phase 2,Not Applicable
8
Ergocalciferol Approved, Nutraceutical Phase 2, Phase 3 50-14-6 5280793
9
Vitamin D Approved, Nutraceutical, Vet_approved Phase 2, Phase 3 1406-16-2
10
Vitamin D3 Approved, Nutraceutical Phase 2, Phase 3,Phase 3 67-97-0 6221 5280795
11 Hormones Phase 2, Phase 3,Not Applicable
12 Bone Density Conservation Agents Phase 2, Phase 3
13 Calcium, Dietary Phase 2, Phase 3
14 Ergocalciferols Phase 2, Phase 3
15 Micronutrients Phase 2, Phase 3
16 Trace Elements Phase 2, Phase 3
17 Vitamins Phase 2, Phase 3
18 Calciferol Nutraceutical Phase 2, Phase 3
19 Vitamin D2 Nutraceutical Phase 2, Phase 3
20
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
21
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
22
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
23
Levobupivacaine Approved, Investigational Phase 2 27262-47-1 92253
24 tannic acid Approved, Nutraceutical Phase 2
25 Adrenergic Agents Phase 2
26 Adrenergic Agonists Phase 2
27 Adrenergic alpha-2 Receptor Agonists Phase 2
28 Adrenergic alpha-Agonists Phase 2
29 Analgesics Phase 2,Not Applicable
30 Analgesics, Non-Narcotic Phase 2,Not Applicable
31 Anesthetics, Inhalation Phase 2,Not Applicable
32 Anesthetics, Local Phase 2,Not Applicable
33 Neurotransmitter Agents Phase 2,Not Applicable
34 Peripheral Nervous System Agents Phase 2,Not Applicable
35 Platelet Aggregation Inhibitors Phase 2,Not Applicable
36
Dexamethasone Approved, Investigational, Vet_approved Not Applicable 50-02-2 5743
37
Ropivacaine Approved Not Applicable 84057-95-4 71273 175805
38
Acetaminophen Approved Not Applicable 103-90-2 1983
39
Ketorolac Approved Not Applicable 74103-06-3, 66635-83-4 3826
40
Morphine Approved, Investigational Not Applicable 57-27-2 5288826
41
Ondansetron Approved Not Applicable 99614-02-5 4595
42
Remifentanil Approved Not Applicable 132875-61-7 60815
43 Androgens
44 Estrogens
45 Hormone Antagonists ,Not Applicable
46 Hormones, Hormone Substitutes, and Hormone Antagonists ,Not Applicable
47 Antiemetics Not Applicable
48 Anti-Inflammatory Agents Not Applicable
49 Antineoplastic Agents, Hormonal Not Applicable
50 Autonomic Agents Not Applicable

Interventional clinical trials:

(show all 25)
# Name Status NCT ID Phase Drugs
1 The Effect of Induction Technique on Postoperative Pain and Agitation Completed NCT02110745 Phase 4 Sevofluorane;Propofol
2 Vitamin D Supplementation and Male Infertility: The CBG-study a Randomized Clinical Trial Completed NCT01304927 Phase 2, Phase 3 Cholecalciferol and calcium
3 Caudal Versus Intravenous Dexmedetomidine for Supplementation of Caudal Analgesia in Children Completed NCT01701778 Phase 2 Caudal Dexmedetomidine;Intravenous Dexmedetomidine;Placebo;sevoflurane
4 The Incidence of Congenital Undescended Testis Among Dutch Infants Unknown status NCT00264121
5 Odense Androgen Study: Study of Androgens, Body Composition, and Muscle Function in Danish Men Unknown status NCT00150163
6 Cryptorchidism: Impact of in Utero Exposure to Xenobiotics With Hormonal Action Completed NCT00565513 Not Applicable
7 Long-Term Outcome in Congenital Undescended Testis After Surgical Treatment by Orchidopexy Completed NCT00253253
8 A Novel Technique of Circumcision Incision Orchidopexy Completed NCT02249637
9 Comparison of Dexamethasone Added to Ropivacaine and Ropivacaine Alone in Caudal Analgesia in Children Undergoing Orchiopexy Completed NCT01604915 Not Applicable
10 Comparing Oxygen Saturation in Post Anesthesia Care Unit After Different Methods of Pain Relief Completed NCT00435383
11 Can the Hypertrophy of Contralateral Testis Predict the Absence of the Non-palpable Testis in the Boys Aged From 6months to 18months of Age ? Completed NCT02203318
12 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389 Not Applicable
13 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
14 A Case-Control Study of Testicular Germ Cell Tumors Among U.S. Military Servicemen Completed NCT00341588
15 Genetics of Familial Testicular Cancer Completed NCT00342537
16 Comparison Between the Clinical Assessment of the Undescended Testis and Its' Ultrasonographic Size Recruiting NCT02731989
17 Orchidopexy Randomized Clinical Assessment Recruiting NCT02235623 Not Applicable
18 One Stage vs. Two Stage Gubernaculum Sparing Laparoscopic Orchidopexy (GSLO) Recruiting NCT02936024 Not Applicable
19 Expertise-Based Randomized Controlled Trial of Scrotal Versus Inguinal Orchidopexy on Post-operative Pain Recruiting NCT02158780 Not Applicable
20 Evaluating Pain Outcomes of Caudal vs Ilioinguinal Nerve Block in Children Undergoing Orchiopexy Repair Recruiting NCT03041935 Not Applicable Acetaminophen;Sevoflurane;Remifentanil;Propofol;Morphine;Ondansetron;Dexamethasone;Ketorolac;Ropivacaine
21 Impact of Exposure to Environmental Pollutants on Birth Outcomes in an Israeli Cohort Recruiting NCT03084445
22 DNA Analysis in Samples From Younger Patients With Germ Cell Tumors and Their Parents or Siblings Recruiting NCT01434355
23 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
24 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Enrolling by invitation NCT03575377 Not Applicable
25 Impact of Percutaneous Laparoscopic Assisted Internal Ring Ligation During Lap Orchiopexy Not yet recruiting NCT03291678 Not Applicable

Search NIH Clinical Center for Cryptorchidism, Unilateral or Bilateral

Inferred drug relations via UMLS 73 / NDF-RT 51 :


Cochrane evidence based reviews: cryptorchidism

Genetic Tests for Cryptorchidism, Unilateral or Bilateral

Genetic tests related to Cryptorchidism, Unilateral or Bilateral:

# Genetic test Affiliating Genes
1 Cryptorchidism 29 INSL3 RXFP2

Anatomical Context for Cryptorchidism, Unilateral or Bilateral

MalaCards organs/tissues related to Cryptorchidism, Unilateral or Bilateral:

41
Testis, Testes, Bone, Lymph Node, Skin

Publications for Cryptorchidism, Unilateral or Bilateral

Articles related to Cryptorchidism, Unilateral or Bilateral:

(show top 50) (show all 88)
# Title Authors Year
1
Case Report: Laparoscopic Approach for Orchiopexy in a 26-Year-Old Man with Accidentally Discovered Persistent MA1llerian Duct Syndrome and Bilateral Undescended Testis. ( 29845116 )
2018
2
Testicular Torsion in an Infant with Undescended Testis. ( 29429568 )
2018
3
Spontaneous rupture of seminoma in undescended testis with hemoperitoneum: a rare presentation. ( 29674406 )
2018
4
Giant interparietal inguinal hernia with undescended testis-A Rare case report. ( 29202353 )
2018
5
Circumcision-incision orchidopexy: A novel technique for palpable, low inguinal undescended testis. ( 29124248 )
2017
6
Bloating due to massive seminoma in an undescended testis. ( 28944978 )
2017
7
Seminoma in Undescended Testis Presenting as Metastatic Enlarged Cervical Lymph Nodes. ( 29132494 )
2017
8
Testicular torsion in undescended testis: A persistent challenge. ( 29264215 )
2017
9
Paediatric Urology and the Dilemma of Low-quality Evidence for the Management of Common Urological Conditions (Vesicoureteral Reflux, Lower Urinary Tract Dysfunction, Undescended Testis) in Children. ( 28753880 )
2017
10
Undescended testis - current trends and guidelines: a review of the literature. ( 27279862 )
2016
11
Educational survey of regional general practitioner's management of paediatric patients with undescended testis. ( 26777063 )
2016
12
Congenital Erythropoietic Porphyria with Undescended Testis. ( 27512208 )
2016
13
Mature teratoma arising from an undescended testis in a horse: comparison between ultrasonographic and morphological features. ( 26431049 )
2015
14
Hypospadias and concomitant undescended testis: Comparison of no skin incision with inguinal and scrotal skin incision orchiopexy. ( 26343974 )
2015
15
Epididymal anomalies in boys with undescended testis or hydrocele: Significance of testicular location. ( 26497933 )
2015
16
Follicular dendritic cell sarcoma with atypical features surrounding undescended testis: description of a rare case. ( 25889780 )
2015
17
Epididymal-testicular fusion anomalies in cryptorchidism are associated with proximal location of the undescended testis and with a widely patent processus vaginalis. ( 25048056 )
2014
18
Primary testicular carcinoid tumour with mature teratoma in undescended testis metastatic to lymph nodes. ( 24839491 )
2014
19
Ruptured seminoma of undescended testis presenting as acute abdomen: case report with literature review. ( 23634342 )
2013
20
Retroperitoneal mature cystic teratoma arising from intra-abdominal undescended testis in an adult. ( 23466003 )
2013
21
Undescended testis: the underlying mechanism and the effects on germ cells that cause infertility and cancer. ( 24074680 )
2013
22
The utility of ultrasonography in the management of undescended testis in a developing country. ( 22374546 )
2013
23
Testicular microlithiasis in a unilateral undescended testis: a rare phenomenon. ( 24362482 )
2013
24
A case of congenital solitary testicular myofibroma associated with an undescended testis. ( 23856846 )
2013
25
Undescended testis: the underlying mechanisms and the effects on germ cells that cause infertility and cancer. ( 23701757 )
2013
26
Testicular microlithiasis in acquired undescended testis after orchidopexy at diagnosis. ( 24106044 )
2013
27
Teratoma composed of struma and seminoma arising from an undescended testis. ( 22092344 )
2012
28
Editorial Comment to Teratoma composed of struma and seminoma arising from an undescended testis. ( 22168536 )
2012
29
Antenatally detected mature teratoma in an undescended testis. ( 21590592 )
2011
30
Surgical findings in acquired undescended testis: an explanation for pubertal descent or non-descent? ( 21879460 )
2011
31
[Undescended testis: aspects of treatment]. ( 20683702 )
2010
32
Tuberculous epididymo-orchitis in an undescended testis. ( 21043317 )
2010
33
Morphogenetic targets and genetics of undescended testis. ( 20980787 )
2010
34
Patterns of referral and treatment of undescended testis: a 12-year experience in a single centre. ( 20721694 )
2010
35
Radiology-Pathology Conference: Mature teratoma arising from an intra-abdominal undescended testis in a 7-month-old infant. ( 21092878 )
2010
36
Use of the processes vaginalis: A new technique for reinforcing the neourethra in hypospadias associated with undescended testis. ( 19881125 )
2009
37
Inflammatory myofibroblastic tumor of spermatic cord in undescended testis. ( 18538378 )
2009
38
Mutational analysis of proto-oncogene Dbl on Xq27 in testicular germ cell tumors reveals a rare SNP in a patient with bilateral undescended testis. ( 19373475 )
2009
39
Long-term testicular growth and position after orchidopexy for congenital undescended testis. ( 19996652 )
2009
40
Seminoma of undescended testis presenting as acute abdomen. ( 19332943 )
2009
41
Use of the processus vaginalis: A new technique for reinforcing the neourethra in hypospadias associated with undescended testis. ( 19672367 )
2009
42
Risk of contralateral testicular cancer among men with unilaterally undescended testis: a meta analysis. ( 18973229 )
2009
43
Undescended testis: current theories of etiology. ( 18520761 )
2008
44
Isolated dextrocardia with bilateral undescended testis and bilateral polydactyl of the hands and feet: a case report. ( 18408788 )
2008
45
Seminoma in undescended testis. ( 17401599 )
2008
46
Age at surgery for undescended testis and risk of testicular cancer. ( 17476009 )
2007
47
Evaluation of extracellular matrix protein composition in sacs associated with undescended testis, hydrocele, inguinal hernia, and peritoneum. ( 17826504 )
2007
48
Reduction in the number of orchidopexies for cryptorchidism after recognition of acquired undescended testis and implementation of expectative policy. ( 17537024 )
2007
49
Preoperative multidetector computed tomography diagnosis of a seminoma originating from an undescended testis by "testicular vascular pedicle" sign. ( 16954931 )
2006
50
Single scrotal incision orchiopexy for palpable undescended testis. ( 16428094 )
2006

Variations for Cryptorchidism, Unilateral or Bilateral

UniProtKB/Swiss-Prot genetic disease variations for Cryptorchidism, Unilateral or Bilateral:

75
# Symbol AA change Variation ID SNP ID
1 INSL3 p.Pro93Leu VAR_013235 rs104894697
2 INSL3 p.Arg102Cys VAR_013236 rs104894698
3 INSL3 p.Asn110Lys VAR_017122 rs121912555
4 RXFP2 p.Thr222Pro VAR_015386 rs121918303

ClinVar genetic disease variations for Cryptorchidism, Unilateral or Bilateral:

6
(show all 27)
# Gene Variation Type Significance SNP ID Assembly Location
1 INSL3 NM_005543.3(INSL3): c.330C> G (p.Asn110Lys) single nucleotide variant Pathogenic rs121912555 GRCh37 Chromosome 19, 17927729: 17927729
2 INSL3 NM_005543.3(INSL3): c.330C> G (p.Asn110Lys) single nucleotide variant Pathogenic rs121912555 GRCh38 Chromosome 19, 17816920: 17816920
3 INSL3 NM_005543.3(INSL3): c.278C> T (p.Pro93Leu) single nucleotide variant Pathogenic rs104894697 GRCh37 Chromosome 19, 17927781: 17927781
4 INSL3 NM_005543.3(INSL3): c.278C> T (p.Pro93Leu) single nucleotide variant Pathogenic rs104894697 GRCh38 Chromosome 19, 17816972: 17816972
5 INSL3 NM_005543.3(INSL3): c.304C> T (p.Arg102Cys) single nucleotide variant Pathogenic rs104894698 GRCh37 Chromosome 19, 17927755: 17927755
6 INSL3 NM_005543.3(INSL3): c.304C> T (p.Arg102Cys) single nucleotide variant Pathogenic rs104894698 GRCh38 Chromosome 19, 17816946: 17816946
7 INSL3 NM_005543.3(INSL3): c.305G> A (p.Arg102His) single nucleotide variant Pathogenic rs121912556 GRCh37 Chromosome 19, 17927754: 17927754
8 INSL3 NM_005543.3(INSL3): c.305G> A (p.Arg102His) single nucleotide variant Pathogenic rs121912556 GRCh38 Chromosome 19, 17816945: 17816945
9 INSL3 NM_005543.3(INSL3): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs398122886 GRCh37 Chromosome 19, 17927842: 17927842
10 INSL3 NM_005543.3(INSL3): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs398122886 GRCh38 Chromosome 19, 17817033: 17817033
11 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh37 Chromosome 16, 89347633: 89347633
12 ANKRD11 NM_013275.5(ANKRD11): c.5317G> T (p.Glu1773Ter) single nucleotide variant Pathogenic rs1114167291 GRCh38 Chromosome 16, 89281225: 89281225
13 46;XY;t(4;14)(p15.32;q32.1)dn Translocation Uncertain significance
14 46;XY;t(16;20)(q11.2;q13.2)dn Translocation Uncertain significance
15 46;XY;t(6;12)(q14;q24);20p+dn complex Pathogenic
16 46;XY;inv(10)(q11.2q24)dn inversion Pathogenic
17 46;XY;t(5;15)(q11.2;q24) Translocation Pathogenic
18 46;XY;t(6;11)(p12.3;p14.2)dn Translocation Pathogenic
19 BTD NM_001281723.2(BTD): c.106_107delGG (p.Gly36Leufs) deletion Uncertain significance rs765906887 GRCh38 Chromosome 3, 15635479: 15635480
20 BTD NM_001281723.2(BTD): c.106_107delGG (p.Gly36Leufs) deletion Uncertain significance rs765906887 GRCh37 Chromosome 3, 15676986: 15676987
21 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh38 Chromosome 5, 36984990: 36984991
22 NIPBL NM_133433.3(NIPBL): c.1810_1811delTC (p.Ser604Terfs) deletion Likely pathogenic rs1057518944 GRCh37 Chromosome 5, 36985092: 36985093
23 SMCHD1 NM_015295.2(SMCHD1): c.511T> G (p.Phe171Val) single nucleotide variant Pathogenic rs1135402740 GRCh38 Chromosome 18, 2674018: 2674018
24 SMCHD1 NM_015295.2(SMCHD1): c.511T> G (p.Phe171Val) single nucleotide variant Pathogenic rs1135402740 GRCh37 Chromosome 18, 2674017: 2674017
25 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh38 Chromosome 10, 75030037: 75030037
26 KAT6B NM_012330.3(KAT6B): c.5213C> T (p.Thr1738Ile) single nucleotide variant Likely pathogenic GRCh37 Chromosome 10, 76789795: 76789795
27 ARID1B; TMEM242; ZDHHC14 GRCh37/hg19 6q25.3(chr6: 156772218-157870875)x3 copy number gain Uncertain significance GRCh37 Chromosome 6, 156772218: 157870875

Copy number variations for Cryptorchidism, Unilateral or Bilateral from CNVD:

7
# CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 45068 10 6700000 12300000 Gain Cryptorchidism
2 62278 12 107500000 132349534 Gain Cryptorchidism
3 89249 15 17000000 23300000 Loss Cryptorchidism
4 202447 5 8200000 15100000 Gain Cryptorchidism
5 260236 X 146900000 154913754 Gain Cryptorchidism
6 266753 Y 1 57772954 Microdeletion Cryptorchidism

Expression for Cryptorchidism, Unilateral or Bilateral

Search GEO for disease gene expression data for Cryptorchidism, Unilateral or Bilateral.

Pathways for Cryptorchidism, Unilateral or Bilateral

Pathways related to Cryptorchidism, Unilateral or Bilateral according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.79 AR CGA CYP19A1
2 10.37 CGA GNRH1
3 10.05 AR GNRH1 SHBG
4 9.85 CYP19A1 STS

GO Terms for Cryptorchidism, Unilateral or Bilateral

Biological processes related to Cryptorchidism, Unilateral or Bilateral according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell proliferation GO:0008285 9.83 AR GNRH1 LBX1 RXFP2 WT1
2 regulation of gene expression GO:0010468 9.76 AR FGFR1 GNRH1 HOXA10
3 cell-cell signaling GO:0007267 9.73 AMH AR CGA GNRH1 INSL3 NR5A1
4 adrenal gland development GO:0030325 9.49 NR5A1 WT1
5 uterus development GO:0060065 9.48 CYP19A1 HOXA10
6 positive regulation of male gonad development GO:2000020 9.4 NR5A1 WT1
7 prostate gland growth GO:0060736 9.37 AR CYP19A1
8 gonad development GO:0008406 9.33 AMH CGA WT1
9 negative regulation of female gonad development GO:2000195 9.32 NR5A1 WT1
10 sex determination GO:0007530 9.13 AMH NR5A1 WT1
11 male gonad development GO:0008584 9.02 AR HOXA10 NR5A1 RXFP2 WT1

Molecular functions related to Cryptorchidism, Unilateral or Bilateral according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 androgen binding GO:0005497 8.96 AR SHBG
2 hormone activity GO:0005179 8.92 AMH CGA GNRH1 INSL3

Sources for Cryptorchidism, Unilateral or Bilateral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
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62 PubMed
64 QIAGEN
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