CRYPTO
MCID: CRY035
MIFTS: 60

Cryptorchidism, Unilateral or Bilateral (CRYPTO)

Categories: Endocrine diseases, Genetic diseases, Reproductive diseases
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Aliases & Classifications for Cryptorchidism, Unilateral or Bilateral

MalaCards integrated aliases for Cryptorchidism, Unilateral or Bilateral:

Name: Cryptorchidism, Unilateral or Bilateral 57
Cryptorchidism 57 11 73 28 53 5 43 14 38 16 75 33
Undescended Testicle 11 31 33
Undescended Testis 57 11
Nondescent Unilateral Testicle 33
Unilateral Undescended Testis 33
Bilateral Nondescent Testicle 33
Bilateral Undescended Testes 33
Impaired Testicular Descent 73
Ectopic Testis, Unilateral 33
Unilateral Cryptorchidism 33
Bilateral Cryptorchidism 33
Bilateral Ectopic Testes 33
Unilateral Cryptorchism 33
Bilateral Cryptorchism 33
Undescended Testicles 11
Cryptosporidiosis 71
Retained Testis 33
Cryptorchism 11
Crypto 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
mutations are frequently maternally inherited


Classifications:



External Ids:

Disease Ontology 11 DOID:11383
OMIM® 57 219050
ICD9CM 34 752.51
MeSH 43 D003456
NCIt 49 C12326
SNOMED-CT 68 204879009
MedGen 40 C0010417
SNOMED-CT via HPO 69 204942005 268227001
UMLS 71 C0010417 C0010418

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) (Updated 08-Dec-2022)

MalaCards based summary: Cryptorchidism, Unilateral or Bilateral, also known as cryptorchidism, is related to persistent mullerian duct syndrome and acrofacial dysostosis, catania type, 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 Mammalian disorder of sexual development and Nongenotropic Androgen signaling. The drugs Propofol and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and breast, and related phenotypes are renal agenesis and unilateral cryptorchidism

UniProtKB/Swiss-Prot: 73 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: 75 Cryptorchidism, also known as undescended testis, is the failure of one or both testes to descend into... 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 659)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 32.7 WT1 RXFP2 INSL3 AMH
2 acrofacial dysostosis, catania type 32.4 GNRH1 ANKRD11
3 inguinal hernia 32.2 WT1 RXFP2 INSL3 GNRH1 AR AMH
4 testicular cancer 32.1 RXFP2 INSL3 GNRH1 AR AMH
5 androgen insensitivity, partial 32.1 INSL3 AR AMH
6 hypogonadotropic hypogonadism 2 with or without anosmia 32.0 KAT6B GNRH1 AMH
7 testicular torsion 31.8 RXFP2 INSL3 AMH
8 hypospadias 31.7 WT1 RXFP2 INSL3 AR
9 infertility 31.6 RXFP2 INSL3 HOXA10 GNRH1 AR AMH
10 varicocele 31.3 GNRH1 AR AMH
11 androgen insensitivity syndrome 31.3 RXFP2 INSL3 AR AMH
12 pseudohermaphroditism 31.2 WT1 RXFP2 INSL3 GNRH1 AR AMH
13 disorder of sexual development 31.1 WT1 RXFP2 INSL3 HOXA10 GNRH1 AR
14 hypogonadotropic hypogonadism 31.1 SMCHD1 RXFP2 INSL3 GNRH1 AR AMH
15 azoospermia 31.1 WT1 INSL3 GNRH1 AR AMH
16 lipoid congenital adrenal hyperplasia 31.1 INSL3 GNRH1 AR AMH
17 male infertility 31.0 RXFP2 INSL3 GNRH1 AR AMH
18 renal hypodysplasia/aplasia 1 31.0 WT1 TMCO1 GNRH1 AMH
19 microcephaly 31.0 TUBA1A RAB3GAP1 NSD1 NIPBL MFSD2A MEFV
20 oligospermia 31.0 GNRH1 AR AMH
21 testicular disease 30.9 RXFP2 INSL3 GNRH1 AR AMH
22 chromosome 16p13.3 deletion syndrome, proximal 30.9 NSD1 NIPBL KAT6B
23 leydig cell hypoplasia 30.8 INSL3 GNRH1 AMH
24 hermaphroditism 30.8 KAT6B AMH
25 gonadal dysgenesis 30.8 WT1 ATRX AMH
26 testicular germ cell cancer 30.8 INSL3 AR AMH
27 penis agenesis 30.7 GNRH1 AR
28 cleft palate, isolated 30.6 TMCO1 RAB3GAP1 NSD1 NIPBL FGF14
29 complete androgen insensitivity syndrome 30.6 INSL3 AR AMH
30 46,xy sex reversal 30.5 WT1 INSL3 GNRH1 AR AMH
31 testicular granulosa cell tumor 30.4 WT1 AMH
32 premature menopause 30.4 WT1 INSL3 GNRH1 AR AMH
33 estrogen excess 30.4 GNRH1 AMH
34 septooptic dysplasia 30.3 TUBA1A SMCHD1 GNRH1
35 malignant tumor of undescended testis 11.5
36 van benthem-driessen-hanveld syndrome 11.5
37 torticollis, keloids, cryptorchidism, and renal dysplasia 11.5
38 cryptosporidiosis 11.4
39 schuurs-hoeijmakers syndrome 11.4
40 ifap syndrome 1, with or without bresheck syndrome 11.3
41 mcdonough syndrome 11.3
42 testicular germ cell tumor 11.3
43 karandikar maria kamble syndrome 11.3
44 intellectual developmental disorder, x-linked, syndromic, 35 11.2
45 caudal appendage deafness 11.2
46 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.2
47 culler-jones syndrome 11.1
48 chromosome 15, trisomy mosaicism 11.1
49 mosaic trisomy 15 11.1
50 spigelian hernia-cryptorchidism syndrome 11.1

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

Human phenotypes related to Cryptorchidism, Unilateral or Bilateral:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 renal agenesis 30 HP:0000104
2 unilateral cryptorchidism 30 HP:0012741

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Genitourinary Internal Genitalia Male:
cryptorchidism, unilateral or bilateral
oligozoospermia, mild (in some patients)
normozoospermia (in some patients)

Clinical features from OMIM®:

219050 (Updated 08-Dec-2022)

UMLS symptoms related to Cryptorchidism, Unilateral or Bilateral:


fever; pruritus

MGI Mouse Phenotypes related to Cryptorchidism, Unilateral or Bilateral:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.33 AMH ANKRD11 AR ATRX FGF14 GNRH1
2 nervous system MP:0003631 10.32 ANKRD11 AR ATRX FGF14 GNRH1 HOXA10
3 endocrine/exocrine gland MP:0005379 10.13 AMH AR FGF14 GNRH1 HOXA10 INSL3
4 cellular MP:0005384 10.13 AR ATRX HOXA10 INSL3 KAT6B MEFV
5 behavior/neurological MP:0005386 10.03 ANKRD11 AR ATRX FGF14 INSL3 MFSD2A
6 embryo MP:0005380 10.01 ANKRD11 AR ATRX MFSD2A NIPBL NSD1
7 reproductive system MP:0005389 9.93 AMH AR ATRX GNRH1 HOXA10 INSL3
8 craniofacial MP:0005382 9.91 ANKRD11 AR KAT6B MFSD2A NIPBL TMCO1
9 pigmentation MP:0001186 9.89 ANKRD11 AR MFSD2A SMCHD1 SZT2
10 skeleton MP:0005390 9.73 ANKRD11 AR FGF14 GNRH1 HOXA10 INSL3
11 mortality/aging MP:0010768 9.44 ANKRD11 AR ATRX KAT6B MEFV MFSD2A

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 74)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Anesthetics, Intravenous Phase 4
4 Anesthetics, General Phase 4
5 Hypnotics and Sedatives Phase 4
6 Anesthetics Phase 4
7 Narcotics Phase 4
8 Anesthetics, Local Phase 4
9 Analgesics, Opioid Phase 4
10
Nitazoxanide Approved, Investigational, Vet_approved Phase 3 55981-09-4 41684
11 Anti-Infective Agents Phase 3
12 Antiparasitic Agents Phase 3
13 Antiprotozoal Agents Phase 3
14
Dexmedetomidine Approved, Experimental, Vet_approved Phase 2 86347-14-0, 113775-47-6 68602 5311068
15
Levobupivacaine Approved, Investigational Phase 2 27262-47-1 92253
16
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
17
Sevoflurane Approved, Vet_approved Phase 2 28523-86-6 5206
18
Tannic acid Approved Phase 2 1401-55-4 16129878 16129778
19
Clofazimine Approved, Investigational Phase 2 2030-63-9 2794
20
Paromomycin Approved, Investigational Phase 1, Phase 2 1263-89-4, 7542-37-2 165580
21
Azithromycin Approved Phase 1, Phase 2 83905-01-5 447043
22 Neurotransmitter Agents Phase 2
23 Adrenergic alpha-Agonists Phase 2
24 Adrenergic Agonists Phase 2
25 Adrenergic Agents Phase 2
26 Platelet Aggregation Inhibitors Phase 2
27 Anesthetics, Inhalation Phase 2
28 Analgesics, Non-Narcotic Phase 2
29 Anti-Inflammatory Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31 Interleukin-12 Phase 1, Phase 2
32
Spiramycin Approved Phase 1 24916-50-5
33
Loperamide Approved Phase 1 53179-11-6 3955
34 Immunoglobulins, Intravenous Phase 1
35 Immunoglobulins Phase 1
36 Whey Protein Phase 1
37 Antibodies Phase 1
38 Antidiarrheals Phase 1
39
Acetaminophen Approved 103-90-2 1983
40
Ketorolac Approved 74103-06-3, 66635-83-4 3826
41
Ondansetron Approved, Withdrawn 99614-02-5 4595
42
Remifentanil Approved 132875-61-7 60815
43
Morphine Approved, Investigational 57-27-2 5288826
44
Ropivacaine Approved 84057-95-4 71273 175805
45
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3 3680
46
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 3003 5743
47
Diclazuril Investigational, Vet_approved 101831-37-2
48 Endocrine Disruptors
49 Antirheumatic Agents
50 Antipyretics

Interventional clinical trials:

(show top 50) (show all 53)
# Name Status NCT ID Phase Drugs
1 THE EFFECT OF DIFFERENT INDUCTION TECHNIQUES ON POSTOPERATIVE PAIN AND AGITATION IN CHILDREN Completed NCT02110745 Phase 4 Sevofluorane;Propofol
2 A Randomized Trial Evaluating Use of Long-Acting Liposomal Bupivacaine (Exparel®) in Reducing Narcotic Pain Requirements in Pediatric Patients Undergoing Minor Urologic Procedures Recruiting NCT04826484 Phase 4 Exparel 133 miligrams per 10 milliliter injection;Bupivacaine Hydrochloride
3 Open Label, Multi-Center Evaluation of Nitazoxanide for the Treatment of Cryptosporidiosis in Subjects With AIDS in the United States Terminated NCT00004986 Phase 3 Nitazoxanide
4 Double-blind Randomized Controlled Trial of Caudal Versus Intravenous Dexmedetomidine for Supplementation of Caudal Analgesia in Children Completed NCT01701778 Phase 2 Caudal Dexmedetomidine;Intravenous Dexmedetomidine;Placebo;sevoflurane
5 A Double-Blind, Placebo-Controlled Trial of Paromomycin for Treatment of Cryptosporidiosis in Patients With Advanced HIV Disease and CD4 Counts Under 150 Cells/mm3 Completed NCT00000771 Phase 2 Paromomycin sulfate
6 A Phase II/III Placebo-Controlled Study of Nitazoxanide (NTZ) For Persons With AIDS and Cryptosporidiosis Completed NCT00001081 Phase 2 Nitazoxanide
7 A Phase I/II Open Label Study of Nitazoxanide (NTZ) for the Treatment of Cryptosporidium Parvum in HIV Infected Infants, Children, and Adolescents Completed NCT00055107 Phase 1, Phase 2 Nitazoxanide
8 A Phase 2A, Randomized, Double-Blind, Placebo-Controlled Evaluation of the Safety, Tolerability, Pharmacokinetics and Efficacy of Clofazimine (CFZ) in Cryptosporidiosis Terminated NCT03341767 Phase 2 Clofazimine;Placebo
9 A Pilot, Proof-of-Concept, Dose-Escalating Trial of Recombinant Human Interleukin-12 (rhIL-12) Versus Placebo Along With Paromomycin and Azithromycin for Chronic Cryptosporidiosis in AIDS Terminated NCT00057486 Phase 1, Phase 2 IL-12
10 Phase I/II Open Label Evaluation of Nitazoxanide for the Treatment of Cryptosporidiosis in AIDS Patients Completed NCT00002444 Phase 1 Nitazoxanide
11 A Randomized, Multicenter, Double-Blind, Parallel-Group, Placebo-Controlled Trial of the Efficacy and Safety of Bovine Anti-Cryptosporidium Immunoglobulin (BACI) in the Treatment of Cryptosporidium Enteritis in AIDS Patients Completed NCT00002248 Phase 1 Cryptosporidium Immune Whey Protein Concentrate (Bovine)
12 Blinded, Placebo-Controlled, Single-Dose Pharmacokinetics and Dose Escalation, Efficacy, and Safety Study of Letrazuril for AIDS-Related Cryptosporidial Diarrhea Completed NCT00001018 Phase 1 Letrazuril
13 Single-Blind Efficacy Evaluation of Intravenous Spiramycin in Subjects With AIDS-Related Cryptosporidial Diarrhea Completed NCT00000980 Phase 1 Spiramycin
14 An Open Label Cryptosporidium Controlled Human Infection Model (CHIM) to Assess the Efficacy and Safety of ABO809 in Healthy Participants Active, not recruiting NCT05036668 Phase 1
15 Role of the Environment and Endocrine Disruptors in Child Cryptorchidism Unknown status NCT04342026
16 Comparison Between the Clinical Assessment of the Undescended Testis and Its' Ultrasonographic Size Unknown status NCT02731989
17 The Incidence of Congenital Undescended Testis Among Dutch Infants in the Medical Centre Alkmaar Unknown status NCT00264121
18 Role of Laparoscopy in Management of Non-palpable Undescended Testis : Assuit University Experience Unknown status NCT04528381
19 Randomized Control Study for Patient With Abdominal Undescended Testis Using New Technique Unknown status NCT03291678
20 Open-Label Compassionate Use of Nitazoxanide for the Treatment of Cryptosporidiosis in AIDS Patients Unknown status NCT00002158 Nitazoxanide
21 A Novel Technique of Circumcision Incision Orchidopexy for Palpable Low Inguinal Cryptorchidism: A Preliminary Report Completed NCT02249637
22 Spectrum of Epididymis and Vas Deferens Anomalies Among Children With Cryptorchidism: A Retrospective Multi-center Study Completed NCT04696874
23 Cryptorchidism: Impact of in Utero Exposure to Xenobiotics With Hormonal Action and Multidisciplinary Completed NCT00565513
24 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
25 Interactive Perioperative Teaching Platform (IPTP) Completed NCT03677453
26 Oxygen Saturation During Transfer From Operating Room to Post Anesthesia Care Unit After Current Anesthesia Care Completed NCT00435383
27 Comparison of Analgesic Effect of Dexamethasone Added to Ropivacaine and Ropivacaine Alone in Caudal Analgesia on Postoperative Pain Control in Pediatric Patients Undergoing Orchiopexy Completed NCT01604915
28 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
29 Evaluating Pain Outcomes of Caudal vs Ilioinguinal Nerve Block in Children Undergoing Orchiopexy Repair Completed NCT03041935 Acetaminophen;Sevoflurane;Remifentanil;Propofol;Morphine;Ondansetron;Dexamethasone;Ketorolac;Ropivacaine
30 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Completed NCT03575377
31 Long-Term Outcome in Congenital Undescended Testis After Surgical Treatment by Orchidopexy Completed NCT00253253
32 Safety and Efficiency of Laparoscopic Management of Intra-canalicular (Emergent) Testis Completed NCT04821167
33 Expertise-Based Randomized Controlled Trial of Scrotal Versus Inguinal (Standard) Orchidopexy on Postoperative Pain: EXPRESSO Trial Completed NCT02158780
34 Prevalence and Clinical Presentation of Respiratory Cryptosporidiosis Among Children With Diarrhea in Mulago Hospital, Uganda Completed NCT00507871
35 28 Day Protocol for the Treatment of Cryptosporidiosis in AIDS Patients With Diclazuril (R64,433) Completed NCT00002278 Diclazuril
36 Efficacy of Cow's Milk Immune Globulin in the Treatment of Chronic Intestinal Cryptosporidiosis in Patients With AIDS Completed NCT00002264 Cryptosporidium Immune Whey Protein Concentrate (Bovine)
37 Azithromycin in the Treatment of Cryptosporidiosis in Patients With Acquired Immune Deficiency Syndrome (AIDS): A Randomized, Multi-Center, Placebo-Controlled, Double-Blind Study Completed NCT00002082 Azithromycin
38 Open-Label "Compassionate" Use Study of Spiramycin for the Treatment of Diarrhea Due to Chronic Cryptosporidiosis in Immunocompromised Patients Completed NCT00002062 Spiramycin
39 Protocol For the Treatment of Cryptosporidiosis in AIDS Patients With Diclazuril (R64,433) Completed NCT00002027 Diclazuril
40 Oral/Intravenous Azithromycin in the Treatment of Cryptosporidiosis in Patients Whose Disease Has Not Been Controlled by Conventional Therapy Completed NCT00002328 Azithromycin
41 Pilot Intervention Trial of Ceramic Water Filters to Reduce the Burden of Cryptosporidium in Household Drinking Water in Rural Kenya. Completed NCT01695304
42 Breast Milk Composition and HIV-exposed/Unexposed Early Infant Growth and Infectious Disease Events Completed NCT01699841
43 One Stage vs. Two Stage Gubernaculum Sparing Laparoscopic Orchidopexy: A Randomized Controlled Trial Recruiting NCT02936024
44 Randomized Trial of One Stage vs Two Stage Orchidopexy for Abdominal Undescended Testis Recruiting NCT02235623
45 Does Low Dose of Dexamethasone Enhance Analgesic Quality of Caudal Analgesia in Children Undergoing Orchiopexy? Recruiting NCT04841018 High dose dexamethasone;Low dose dexamethasone
46 Prospective Observational Study on SEBBIN Silicone Gel-filled Testicular Implants Recruiting NCT05097820
47 Development of an Effective Treatment of Cryptosporidiosis in Bangladeshi Children Recruiting NCT04103216
48 Genetic Diversity of Cryptosporidium Species Infecting Human in Sohag Governorate Recruiting NCT05208970
49 Field Studies of Cryptosporidiosis and Enteropathogens in Bangladesh Active, not recruiting NCT02764918
50 "Comparison of Analgesic Effects of USG-Guided Caudal Versus Ilioinguinal/Iliohypogastric Nerve Block Techniques for Inguinal Surgeries in Children, a Randomized Controlled Trial." Not yet recruiting NCT05558748

Search NIH Clinical Center for Cryptorchidism, Unilateral or Bilateral

Inferred drug relations via UMLS 71 / NDF-RT 50 :


nitazoxanide

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 28 INSL3

Anatomical Context for Cryptorchidism, Unilateral or Bilateral

Organs/tissues related to Cryptorchidism, Unilateral or Bilateral:

MalaCards : Testis, Testes, Breast, Pituitary, Appendix, Kidney, Placenta

Publications for Cryptorchidism, Unilateral or Bilateral

Articles related to Cryptorchidism, Unilateral or Bilateral:

(show top 50) (show all 8023)
# Title Authors PMID Year
1
A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. 53 62 57 5
12601553 2003
2
Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. 53 62 57 5
11095425 2000
3
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. 62 57 5
12970298 2003
4
Mutations of the GREAT gene cause cryptorchidism. 53 62 57
12217959 2002
5
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism. 53 62 5
11746019 2001
6
A transgenic insertion causing cryptorchidism in mice. 62 57
11353515 2001
7
Cryptorchidism in mice mutant for Insl3. 62 57
10391220 1999
8
Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. 62 57
10319319 1999
9
Genetics of undescended testis. 62 57
6116809 1981
10
Associated renal anomalies in familial cryptorchidism. 62 57
89356 1979
11
Letter: Familial cryptorchidism. 62 57
241049 1975
12
Hereditary cryptorchidism. 62 57
4389642 1969
13
Cryptorchidism in Three Brothers. 62 57
20786638 1946
14
Whole-genome sequencing of patients with rare diseases in a national health system. 5
32581362 2020
15
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 5
28067909 2017
16
[Azoospermia factor and male infertility]. 53 62
20369704 2010
17
Decreased expression of FGFR1, SOS1, RAF1 genes in cryptorchidism. 53 62
20389169 2010
18
The hypothalamus-pituitary-testis axis in boys during the first six months of life: a comparison of cryptorchidism and hypospadias cases with controls. 53 62
18336537 2009
19
A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor. 53 62
19048299 2009
20
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 53 62
19567835 2009
21
Neoadjuvant gonadotropin-releasing hormone therapy before surgery and effect on fertility index in unilateral undescended testes: a prospective randomized trial. 53 62
19371931 2009
22
Treatment with human chorionic gonadotropin induces left ventricular mass in cryptorchid boys. 53 62
19618664 2009
23
Mutations in INSL3 and RXFP2 genes in cryptorchid boys. 53 62
19416190 2009
24
INSL3/RXFP2 signaling in testicular descent. 53 62
19416188 2009
25
New roles for INSL3 in adults. 53 62
19416191 2009
26
Factors controlling testis descent. 53 62
18647820 2008
27
Genetic alterations associated with cryptorchidism. 53 62
19017913 2008
28
[Genetic causes of male infertility]. 53 62
19004117 2008
29
Role of hormones, genes, and environment in human cryptorchidism. 53 62
18436703 2008
30
Undescended testis: current theories of etiology. 53 62
18520761 2008
31
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. 53 62
18073304 2008
32
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. 53 62
18772597 2008
33
Hormonal and genetic control of testicular descent. 53 62
18062862 2007
34
Prolonged human chorionic gonadotrophin stimulation as a tool for investigating and managing undescended testes. 53 62
17645564 2007
35
Developmental expression and gene regulation of insulin-like 3 receptor RXFP2 in mouse male reproductive organs. 53 62
17615407 2007
36
Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism. 53 62
17666478 2007
37
[Molecular and anatomical studies of testicular descent]. 53 62
17702188 2007
38
Novel mutations involving the INSL3 gene associated with cryptorchidism. 53 62
17437853 2007
39
Luteinizing hormone in testicular descent. 53 62
17363139 2007
40
Structural analysis of gubernaculum testis in cryptorchid patients submitted to treatment with human chorionic gonadotrophin. 53 62
17488543 2007
41
Relaxin and related peptides in male reproduction. 53 62
18161481 2007
42
T222P mutation of the insulin-like 3 hormone receptor LGR8 is associated with testicular maldescent and hinders receptor expression on the cell surface membrane. 53 62
16926383 2007
43
Relaxin, the relaxin-like factor and their receptors. 53 62
18161478 2007
44
Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. 53 62
17028442 2007
45
The use of human chorionic gonadotropin (HCG) for penile reconstruction in bladder exstrophy and total epispadias patients. 53 62
17211793 2006
46
Analysis of anomalies of the epididymis and processus vaginalis in human fetuses and in patients with cryptorchidism treated and untreated with human chorionic gonadotrophin. 53 62
16978284 2006
47
Effects of hormonal treatment on the contralateral descended testis in unilateral cryptorchidism. 53 62
18947658 2006
48
Evaluation of low-dose hCG treatment for cryptorchidism. 53 62
17172066 2006
49
Paracrine and endocrine roles of insulin-like factor 3. 53 62
16957417 2006
50
Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization. 53 62
16687567 2006

Variations for Cryptorchidism, Unilateral or Bilateral

ClinVar genetic disease variations for Cryptorchidism, Unilateral or Bilateral:

5 (show all 29)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 INSL3 NM_005543.4(INSL3):c.330C>G (p.Asn110Lys) SNV Pathogenic
14829 rs121912555 GRCh37: 19:17927729-17927729
GRCh38: 19:17816920-17816920
2 INSL3 NM_005543.4(INSL3):c.278C>T (p.Pro93Leu) SNV Pathogenic
14830 rs104894697 GRCh37: 19:17927781-17927781
GRCh38: 19:17816972-17816972
3 INSL3 NM_005543.4(INSL3):c.304C>T (p.Arg102Cys) SNV Pathogenic
14831 rs104894698 GRCh37: 19:17927755-17927755
GRCh38: 19:17816946-17816946
4 INSL3 NM_005543.4(INSL3):c.217C>T (p.Arg73Ter) SNV Pathogenic
37092 rs398122886 GRCh37: 19:17927842-17927842
GRCh38: 19:17817033-17817033
5 SMCHD1 NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val) SNV Pathogenic
431465 rs1135402740 GRCh37: 18:2674017-2674017
GRCh38: 18:2674018-2674018
6 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18909044-21464119) CN GAIN Pathogenic
997057 GRCh37: 22:18909044-21464119
GRCh38:
7 INSL3 NM_005543.4(INSL3):c.305G>A (p.Arg102His) SNV Pathogenic
14832 rs121912556 GRCh37: 19:17927754-17927754
GRCh38: 19:17816945-17816945
8 RAB3GAP1 NM_012233.3(RAB3GAP1):c.151-5T>G SNV Pathogenic
996741 rs1690127143 GRCh37: 2:135848563-135848563
GRCh38: 2:135090993-135090993
9 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic
242882 rs1114167291 GRCh37: 16:89347633-89347633
GRCh38: 16:89281225-89281225
10 MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23del DEL Pathogenic
684729 rs1570238098 GRCh37: 1:40424346-40424348
GRCh38: 1:39958674-39958676
11 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic
598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
12 overlap with 70 genes GRCh37/hg19 9q34.3(chr9:139284464-141018984) CN LOSS Pathogenic
1047897 GRCh37: 9:139284464-141018984
GRCh38:
13 ATRX NM_000489.6(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic
11728 rs122445099 GRCh37: X:76776310-76776310
GRCh38: X:77520832-77520832
14 MEFV NM_000243.3(MEFV):c.2080A>G (p.Met694Val) SNV Pathogenic
2538 rs61752717 GRCh37: 16:3293407-3293407
GRCh38: 16:3243407-3243407
15 TUBA1A NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) SNV Pathogenic
208490 rs797045005 GRCh37: 12:49578923-49578923
GRCh38: 12:49185140-49185140
16 NSD1 NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic
159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
17 NIPBL NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) DEL Likely Pathogenic
374171 rs1057518944 GRCh37: 5:36985092-36985093
GRCh38: 5:36984990-36984991
18 KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) SNV Likely Pathogenic
523500 rs1554846212 GRCh37: 10:76789795-76789795
GRCh38: 10:75030037-75030037
19 SZT2 NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) DEL Likely Pathogenic
372895 rs746200792 GRCh37: 1:43902925-43902927
GRCh38: 1:43437254-43437256
20 FGF14 NM_004115.4(FGF14):c.486dup (p.Arg163fs) DUP Likely Pathogenic
598976 rs1566823361 GRCh37: 13:102379082-102379083
GRCh38: 13:101726732-101726733
21 SZT2 NM_001365999.1(SZT2):c.5025-2A>G SNV Likely Pathogenic
598948 rs1557569831 GRCh37: 1:43897129-43897129
GRCh38: 1:43431458-43431458
22 overlap with 3 genes GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3 CN GAIN Uncertain Significance
523303 GRCh37: 6:156772218-157870875
GRCh38:
23 SOX3 NM_005634.3(SOX3):c.735_737dup (p.Ala248dup) DUP Uncertain Significance
95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
24 RXFP2 NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro) SNV Uncertain Significance
4159 rs121918303 GRCh37: 13:32351535-32351535
GRCh38: 13:31777398-31777398
25 LSM1 NM_014462.3(LSM1):c.231+4A>C SNV Uncertain Significance
623485 rs775468919 GRCh37: 8:38027316-38027316
GRCh38: 8:38169798-38169798
26 MEFV NM_000243.3(MEFV):c.986G>A (p.Arg329His) SNV Uncertain Significance
97557 rs104895112 GRCh37: 16:3299705-3299705
GRCh38: 16:3249705-3249705
27 BTD NM_001370658.1(BTD):c.40_41del (p.Gly14fs) DEL Uncertain Significance
373906 rs765906887 GRCh37: 3:15676986-15676987
GRCh38: 3:15635479-15635480
28 INSL3 NM_005543.4(INSL3):c.178A>G (p.Thr60Ala) SNV Benign
1253265 GRCh37: 19:17932138-17932138
GRCh38: 19:17821329-17821329
29 INSL3 NM_005543.4(INSL3):c.126A>G (p.Leu42=) SNV Benign
1271020 GRCh37: 19:17932190-17932190
GRCh38: 19:17821381-17821381

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

73
# 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

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

6
# CNVD ID Chromosome 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 112791 17 41062469 41719833 Deletion unilateral cryptorchidism
5 202447 5 8200000 15100000 Gain Cryptorchidism
6 260236 X 146900000 154913754 Gain Cryptorchidism
7 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
Show member pathways
10.49 WT1 INSL3 AMH
2 10.41 GNRH1 AR
3 9.86 RXFP2 INSL3

GO Terms for Cryptorchidism, Unilateral or Bilateral

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

# Name GO ID Score Top Affiliating Genes
1 cell-cell signaling GO:0007267 9.96 AMH AR FGF14 GNRH1 INSL3
2 regulation of gene expression GO:0010468 9.91 NIPBL MEFV HOXA10 GNRH1 AR
3 Leydig cell differentiation GO:0033327 9.71 AR AMH
4 face morphogenesis GO:0060325 9.63 RAB3GAP1 NIPBL ANKRD11
5 sex determination GO:0007530 9.62 WT1 AMH
6 male gonad development GO:0008584 9.32 WT1 RXFP2 INSL3 HOXA10 AR
7 regulation of developmental growth GO:0048638 9.26 NIPBL AR

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

# Name GO ID Score Top Affiliating Genes
1 chromo shadow domain binding GO:0070087 8.92 NIPBL ATRX

Sources for Cryptorchidism, Unilateral or Bilateral

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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