CRYPTO
MCID: CRY035
MIFTS: 59

Cryptorchidism, Unilateral or Bilateral (CRYPTO)

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 56 39
Cryptorchidism 56 12 73 36 29 13 54 6 43 15 17
Undescended Testicle 12 32
Undescended Testis 56 12
Impaired Testicular Descent 73
Undescended Testicles 12
Cryptosporidiosis 71
Cryptorchism 12
Crypto 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mutations are frequently maternally inherited


HPO:

31
cryptorchidism, unilateral or bilateral:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:11383
OMIM 56 219050
KEGG 36 H02176
ICD9CM 34 752.51
MeSH 43 D003456
NCIt 49 C12326
SNOMED-CT 67 37501009
MedGen 41 C0010417
SNOMED-CT via HPO 68 204942005 263681008 268227001
UMLS 71 C0010417 C0010418

Summaries for Cryptorchidism, Unilateral or Bilateral

KEGG : 36 Cryptorchidism is the absence of at least one testicle from the scrotum. It is the most common birth defect involving the male genitalia. It is associated with a higher risk of developing testicular tumors in adulthood. Studies in humans have investigated the possibility that mutations in the INSL3 gene are the cause of cryptorchidism. It has shown that INSL3 is involved in testicular descent, however, mutations of this gene are not a frequent cause of cryptorchidism.

MalaCards based summary : Cryptorchidism, Unilateral or Bilateral, also known as cryptorchidism, is related to persistent mullerian duct syndrome and kallmann syndrome, 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 Nongenotropic Androgen signaling and Aromatase Inhibitor Pathway (Multiple Tissues), Pharmacodynamics. The drugs Propofol and Anesthetics, General have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and pituitary, and related phenotypes are renal agenesis and unilateral cryptorchidism

OMIM : 56 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)

UniProtKB/Swiss-Prot : 73 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 : 74 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 544)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 33.7 NR5A1 INSL3 AMH
2 kallmann syndrome 33.2 STS NR5A1 INSL3 GNRH1 FGFR1 AMH
3 androgen insensitivity, partial 33.1 SHBG CYP19A1 AR
4 inguinal hernia 32.4 WT1 AR AMH
5 testicular cancer 32.3 SHBG RXFP2 INSL3 AR
6 infertility 32.2 SHBG RXFP2 NR5A1 INSL3 HOXA10 GNRH1
7 hypospadias 32.2 WT1 RXFP2 NR5A1 INSL3 AR
8 anorchia 31.9 RXFP2 NR5A1 INSL3
9 varicocele 31.8 SHBG GNRH1 AR AMH
10 pseudohermaphroditism 31.6 WT1 NR5A1 INSL3 CYP19A1 AR AMH
11 hypogonadism 31.6 SHBG GNRH1 FGFR1 CYP19A1 AR
12 sertoli cell tumor 31.6 WT1 NR5A1 CYP19A1 AR
13 lipoid congenital adrenal hyperplasia 31.6 SHBG NR5A1 GNRH1 CYP19A1 BTD AMH
14 gonadal dysgenesis 31.5 WT1 SHBG NR5A1 ATRX AMH
15 renal hypodysplasia/aplasia 1 31.5 WT1 TMCO1 GNRH1 FGFR1
16 leydig cell tumor 31.5 NR5A1 INSL3 GNRH1 CYP19A1
17 testicular disease 31.5 SHBG RXFP2 INSL3 IGFL3 GNRH1 AR
18 male infertility 31.4 SHBG GNRH1 CYP19A1 AR
19 sexual disorder 31.3 SHBG GNRH1 AR
20 hermaphroditism 31.3 SHBG NR5A1 AR AMH
21 alopecia 31.3 SHBG BTD AR
22 androgen insensitivity syndrome 31.3 SHBG NR5A1 AR AMH
23 sex development disorder 31.3 WT1 SHBG NR5A1 INSL3 GNRH1 CYP19A1
24 hypogonadotropic hypogonadism 31.3 SHBG NR5A1 INSL3 GNRH1 FGFR1 CYP19A1
25 gynecomastia 31.2 SHBG GNRH1 CYP19A1 AR
26 47, xxy 31.2 SHBG AR
27 amenorrhea 31.2 SHBG NR5A1 GNRH1 CYP19A1
28 endometriosis 31.2 STS NR5A1 HOXA10 GNRH1 CYP19A1
29 estrogen excess 31.1 SHBG GNRH1 CYP19A1
30 turner syndrome 31.1 SHBG AR AMH
31 testicular granulosa cell tumor 31.0 WT1 AMH
32 46 xy gonadal dysgenesis 30.9 WT1 SHBG NR5A1 AMH
33 complete androgen insensitivity syndrome 30.9 SHBG CYP19A1 AR
34 gonadoblastoma 30.9 WT1 NR5A1 AMH
35 impotence 30.8 SHBG GNRH1 AR
36 endometrial hyperplasia 30.8 HOXA10 CYP19A1 AR
37 malignant tumor of undescended testis 12.7
38 torticollis, keloids, cryptorchidism, and renal dysplasia 12.6
39 anophthalmia esophageal atresia cryptorchidism 12.2
40 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 12.2
41 spigelian hernia-cryptorchidism syndrome 12.2
42 obsolete: male infertility with normal virilization due to a developmental or structural testicular defect associated with cryptorchidism 12.2
43 cryptosporidiosis 12.0
44 ifap syndrome with or without bresheck syndrome 12.0
45 mcdonough syndrome 11.8
46 caudal appendage deafness 11.8
47 fetal akinesia deformation sequence 1 11.8
48 pacs1 syndrome 11.7
49 testicular germ cell tumor 11.6
50 noonan syndrome 1 11.5

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:

31
# Description HPO Frequency HPO Source Accession
1 renal agenesis 31 HP:0000104
2 unilateral cryptorchidism 31 HP:0012741

Symptoms via clinical synopsis from OMIM:

56
Genitourinary Internal Genitalia Male:
cryptorchidism, unilateral or bilateral
oligozoospermia, mild (in some patients)
normozoospermia (in some patients)

Clinical features from OMIM:

219050

UMLS symptoms related to Cryptorchidism, Unilateral or Bilateral:


fever, pruritus

MGI Mouse Phenotypes related to Cryptorchidism, Unilateral or Bilateral:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.14 ANKRD11 AR ATRX BTD CYP19A1 FGFR1
2 growth/size/body region MP:0005378 10.03 ANKRD11 AR ATRX BTD CYP19A1 FGFR1
3 endocrine/exocrine gland MP:0005379 10.02 AMH AR CYP19A1 FGFR1 GNRH1 HOXA10
4 embryo MP:0005380 9.97 ANKRD11 AR ATRX FGFR1 NR5A1 NSD1
5 reproductive system MP:0005389 9.8 AMH AR ATRX CIRBP CYP19A1 FGFR1
6 renal/urinary system MP:0005367 9.7 AR BTD CYP19A1 FGFR1 GNRH1 RXFP2
7 skeleton MP:0005390 9.32 ANKRD11 AR BTD CYP19A1 FGFR1 GNRH1

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 148)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2 Anesthetics, General Phase 4
3 Hypnotics and Sedatives Phase 4
4 Anesthetics, Intravenous Phase 4
5
Azithromycin Approved Phase 3 83905-01-5 55185 447043
6
Methyltestosterone Approved Phase 2, Phase 3 58-18-4 6010
7
Testosterone Approved, Experimental, Investigational Phase 2, Phase 3 58-22-0, 481-30-1 6013 10204
8
Testosterone undecanoate Approved, Investigational Phase 2, Phase 3 5949-44-0
9
Testosterone enanthate Approved Phase 2, Phase 3 315-37-7 9416
10
Fluconazole Approved, Investigational Phase 3 86386-73-4 3365
11
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
12
Rifabutin Approved, Investigational Phase 3 72559-06-9 6323490 46783538
13
Peginterferon alfa-2a Approved, Investigational Phase 2, Phase 3 198153-51-4 5360545
14
Ribavirin Approved Phase 2, Phase 3 36791-04-5 37542
15
Nitazoxanide Approved, Investigational, Vet_approved Phase 3 55981-09-4 41684
16
Castor oil Approved, Investigational, Nutraceutical, Vet_approved Phase 2, Phase 3 8001-79-4
17 Gastrointestinal Agents Phase 2, Phase 3
18 Hormone Antagonists Phase 3
19 Antineoplastic Agents, Hormonal Phase 2, Phase 3
20 Hormones Phase 3
21 Anti-Bacterial Agents Phase 3
22 Anabolic Agents Phase 2, Phase 3
23 Testosterone 17 beta-cypionate Phase 2, Phase 3
24 Androgens Phase 2, Phase 3
25 Cytochrome P-450 Enzyme Inhibitors Phase 3
26 Antitubercular Agents Phase 3
27 Antibiotics, Antitubercular Phase 3
28 Antifungal Agents Phase 3
29 Steroid Synthesis Inhibitors Phase 3
30 Cytochrome P-450 CYP2C9 Inhibitors Phase 3
31 Cathartics Phase 2, Phase 3
32 Castor Phase 2, Phase 3
33 Laxatives Phase 2, Phase 3
34 Liver Extracts Phase 2, Phase 3
35 Antiviral Agents Phase 2, Phase 3
36 Antimetabolites Phase 2, Phase 3
37 Anti-Infective Agents Phase 3
38 Antiparasitic Agents Phase 3
39 Antiprotozoal Agents Phase 3
40
Sevoflurane Approved, Vet_approved Phase 2 28523-86-6 5206
41
tannic acid Approved Phase 2 1401-55-4
42
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
43
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
44
Levobupivacaine Approved, Investigational Phase 2 27262-47-1 92253
45
Paromomycin Approved, Investigational Phase 1, Phase 2 7542-37-2, 1263-89-4 165580
46
Clofazimine Approved, Investigational Phase 2 2030-63-9 2794
47 Anesthetics, Local Phase 2
48 Neurotransmitter Agents Phase 2
49 Anesthetics Phase 2
50 Platelet Aggregation Inhibitors Phase 2

Interventional clinical trials:

(show top 50) (show all 66)
# 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 Study of Daily and Intermittent Prophylactic Regimens for the Prevention of Disseminated Mycobacterium Avium Complex (MAC) and Fungal Infections in HIV-Infected Patients Completed NCT00002122 Phase 3 Azithromycin;Rifabutin;Fluconazole
3 Androgen Treatment in Leydig Cell Proliferation Completed NCT01206270 Phase 2, Phase 3 Testosterone undecanoate;Castor Oil
4 Impact of Nitazoxanide on Virologic Responses in Chronic HCV Infected Patients With Genotype 4: A Placebo-controlled Randomized Trial Completed NCT01197157 Phase 2, Phase 3 Placebo;Nitazoxanide
5 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
6 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
7 A Phase II/III Placebo-Controlled Study of Nitazoxanide (NTZ) For Persons With AIDS and Cryptosporidiosis Completed NCT00001081 Phase 2 Nitazoxanide
8 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
9 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
10 Fecal Microbiota Transplantation in Refractory Clostridium Difficile Colitis Recruiting NCT02127398 Phase 2
11 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
12 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
13 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)
14 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
15 Single-Blind Efficacy Evaluation of Intravenous Spiramycin in Subjects With AIDS-Related Cryptosporidial Diarrhea Completed NCT00000980 Phase 1 Spiramycin
16 Phase I/II Open Label Evaluation of Nitazoxanide for the Treatment of Cryptosporidiosis in AIDS Patients Completed NCT00002444 Phase 1 Nitazoxanide
17 Comparison Between the Clinical Assessment of the Undescended Testis and Its' Ultrasonographic Size Unknown status NCT02731989
18 The Incidence of Congenital Undescended Testis Among Dutch Infants in the Medical Centre Alkmaar Unknown status NCT00264121
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 Parasitic Causes of Secretory Diarrhea in Children and Chronically Ill Adult. Unknown status NCT03166670
22 Odense Androgen Study – A Population-Based Study of Androgens, Body Composition, and Muscle Function in 20-29 Year-Old Danish Men Unknown status NCT00150163
23 Long-Term Outcome in Congenital Undescended Testis After Surgical Treatment by Orchidopexy Completed NCT00253253
24 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
25 A Novel Technique of Circumcision Incision Orchidopexy for Palpable Low Inguinal Cryptorchidism: A Preliminary Report Completed NCT02249637
26 A Case-Control Study of Testicular Germ Cell Tumors Among U.S. Military Servicemen Completed NCT00341588
27 Oral/Intravenous Azithromycin in the Treatment of Cryptosporidiosis in Patients Whose Disease Has Not Been Controlled by Conventional Therapy Completed NCT00002328 Azithromycin
28 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
29 Quadratus Lumborum Block Versus Caudal Block Completed NCT03294291
30 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)
31 Open-Label "Compassionate" Use Study of Spiramycin for the Treatment of Diarrhea Due to Chronic Cryptosporidiosis in Immunocompromised Patients Completed NCT00002062 Spiramycin
32 28 Day Protocol for the Treatment of Cryptosporidiosis in AIDS Patients With Diclazuril (R64,433) Completed NCT00002278 Diclazuril
33 Protocol For the Treatment of Cryptosporidiosis in AIDS Patients With Diclazuril (R64,433) Completed NCT00002027 Diclazuril
34 Transversus Abdominis Plane Versus Quadratus Lumborum Block for Pediatrics Completed NCT02715999
35 Cryptorchidism: Impact of in Utero Exposure to Xenobiotics With Hormonal Action and Multidisciplinary Completed NCT00565513
36 Oxygen Saturation During Transfer From Operating Room to Post Anesthesia Care Unit After Current Anesthesia Care Completed NCT00435383
37 Prevalence and Clinical Presentation of Respiratory Cryptosporidiosis Among Children With Diarrhea in Mulago Hospital, Uganda Completed NCT00507871
38 Pilot Intervention Trial of Ceramic Water Filters to Reduce the Burden of Cryptosporidium in Household Drinking Water in Rural Kenya. Completed NCT01695304
39 Breast Milk Composition and HIV-exposed/Unexposed Early Infant Growth and Infectious Disease Events Completed NCT01699841
40 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
41 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
42 Delayed Puberty in Boys; Clinical and Biochemical Characteristics and Effect of Testosterone Treatment - Retrospective Experience From a Single Tertiary Referral Centre 1990-2013 Completed NCT02034487
43 Molecular Epidemiology of Pediatric Germ Cell Tumors Completed NCT01434355
44 Field Studies of Human Immunity to Amebiasis in Bangladesh: A Prospective Study of Children Ages 0-17 Years Completed NCT02734264
45 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
46 Oxidative Stress in Testicular Tissue Before and After Cryopreservation Completed NCT03621995
47 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Completed NCT03575377
48 Evaluating Pain Outcomes of Caudal vs Ilioinguinal Nerve Block in Children Undergoing Orchiopexy Repair Recruiting NCT03041935 Acetaminophen;Sevoflurane;Remifentanil;Propofol;Morphine;Ondansetron;Dexamethasone;Ketorolac;Ropivacaine
49 Randomized Trial of One Stage vs Two Stage Orchidopexy for Abdominal Undescended Testis Recruiting NCT02235623
50 One Stage vs. Two Stage Gubernaculum Sparing Laparoscopic Orchidopexy: A Randomized Controlled Trial Recruiting NCT02936024

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 29 INSL3

Anatomical Context for Cryptorchidism, Unilateral or Bilateral

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

40
Testis, Testes, Pituitary, Heart, Kidney, Breast, Prostate

Publications for Cryptorchidism, Unilateral or Bilateral

Articles related to Cryptorchidism, Unilateral or Bilateral:

(show top 50) (show all 4713)
# Title Authors PMID Year
1
A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. 54 61 56 6
12601553 2003
2
Mutations of the GREAT gene cause cryptorchidism. 54 61 56 6
12217959 2002
3
Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. 54 61 56 6
11095425 2000
4
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. 61 56 6
12970298 2003
5
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism. 54 61 6
11746019 2001
6
Further insights into the role of T222P variant of RXFP2 in non-syndromic cryptorchidism in two Mediterranean populations. 61 6
20636340 2011
7
A transgenic insertion causing cryptorchidism in mice. 61 56
11353515 2001
8
Cryptorchidism in mice mutant for Insl3. 61 56
10391220 1999
9
Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. 61 56
10319319 1999
10
Associated renal anomalies in familial cryptorchidism. 61 56
89356 1979
11
Letter: Familial cryptorchidism. 61 56
241049 1975
12
Hereditary cryptorchidism. 61 56
4389642 1969
13
Cryptorchidism in Three Brothers. 61 56
20786638 1946
14
Genetics of undescended testis. 56
6116809 1981
15
[Azoospermia factor and male infertility]. 54 61
20369704 2010
16
Decreased expression of FGFR1, SOS1, RAF1 genes in cryptorchidism. 54 61
20389169 2010
17
The hypothalamus-pituitary-testis axis in boys during the first six months of life: a comparison of cryptorchidism and hypospadias cases with controls. 54 61
18336537 2009
18
A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor. 54 61
19048299 2009
19
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 54 61
19567835 2009
20
Neoadjuvant gonadotropin-releasing hormone therapy before surgery and effect on fertility index in unilateral undescended testes: a prospective randomized trial. 54 61
19371931 2009
21
Treatment with human chorionic gonadotropin induces left ventricular mass in cryptorchid boys. 54 61
19618664 2009
22
Mutations in INSL3 and RXFP2 genes in cryptorchid boys. 54 61
19416190 2009
23
INSL3/RXFP2 signaling in testicular descent. 54 61
19416188 2009
24
New roles for INSL3 in adults. 54 61
19416191 2009
25
Factors controlling testis descent. 54 61
18647820 2008
26
Genetic alterations associated with cryptorchidism. 54 61
19017913 2008
27
[Genetic causes of male infertility]. 54 61
19004117 2008
28
Role of hormones, genes, and environment in human cryptorchidism. 54 61
18436703 2008
29
Undescended testis: current theories of etiology. 54 61
18520761 2008
30
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. 54 61
18073304 2008
31
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. 54 61
18772597 2008
32
Hormonal and genetic control of testicular descent. 54 61
18062862 2007
33
Prolonged human chorionic gonadotrophin stimulation as a tool for investigating and managing undescended testes. 54 61
17645564 2007
34
Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism. 54 61
17666478 2007
35
Developmental expression and gene regulation of insulin-like 3 receptor RXFP2 in mouse male reproductive organs. 54 61
17615407 2007
36
[Molecular and anatomical studies of testicular descent]. 54 61
17702188 2007
37
Novel mutations involving the INSL3 gene associated with cryptorchidism. 54 61
17437853 2007
38
Luteinizing hormone in testicular descent. 54 61
17363139 2007
39
Structural analysis of gubernaculum testis in cryptorchid patients submitted to treatment with human chorionic gonadotrophin. 54 61
17488543 2007
40
Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. 54 61
17028442 2007
41
Relaxin, the relaxin-like factor and their receptors. 54 61
18161478 2007
42
Relaxin and related peptides in male reproduction. 54 61
18161481 2007
43
T222P mutation of the insulin-like 3 hormone receptor LGR8 is associated with testicular maldescent and hinders receptor expression on the cell surface membrane. 54 61
16926383 2007
44
The use of human chorionic gonadotropin (HCG) for penile reconstruction in bladder exstrophy and total epispadias patients. 54 61
17211793 2006
45
Effects of hormonal treatment on the contralateral descended testis in unilateral cryptorchidism. 54 61
18947658 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. 54 61
16978284 2006
47
Evaluation of low-dose hCG treatment for cryptorchidism. 54 61
17172066 2006
48
Paracrine and endocrine roles of insulin-like factor 3. 54 61
16957417 2006
49
Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization. 54 61
16687567 2006
50
The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism. 54 61
16813680 2006

Variations for Cryptorchidism, Unilateral or Bilateral

ClinVar genetic disease variations for Cryptorchidism, Unilateral or Bilateral:

6 (show all 28) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ATRX NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter)SNV Pathogenic 11728 rs122445099 X:76776310-76776310 X:77520832-77520832
2 INSL3 NM_005543.4(INSL3):c.330C>G (p.Asn110Lys)SNV Pathogenic 14829 rs121912555 19:17927729-17927729 19:17816920-17816920
3 INSL3 NM_005543.4(INSL3):c.278C>T (p.Pro93Leu)SNV Pathogenic 14830 rs104894697 19:17927781-17927781 19:17816972-17816972
4 INSL3 NM_005543.4(INSL3):c.304C>T (p.Arg102Cys)SNV Pathogenic 14831 rs104894698 19:17927755-17927755 19:17816946-17816946
5 INSL3 NM_005543.4(INSL3):c.305G>A (p.Arg102His)SNV Pathogenic 14832 rs121912556 19:17927754-17927754 19:17816945-17816945
6 INSL3 NM_005543.4(INSL3):c.217C>T (p.Arg73Ter)SNV Pathogenic 37092 rs398122886 19:17927842-17927842 19:17817033-17817033
7 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter)SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
8 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter)SNV Pathogenic 242882 rs1114167291 16:89347633-89347633 16:89281225-89281225
9 46;XY;t(6;12)(q14;q24);20p+dncomplex Pathogenic 267833
10 46;XY;inv(10)(q11.2q24)dninversion Pathogenic 267853
11 46;XY;t(5;15)(q11.2;q24)Translocation Pathogenic 267937
12 46;XY;t(6;11)(p12.3;p14.2)dnTranslocation Pathogenic 268006
13 BTD NM_001370658.1(BTD):c.40_41del (p.Gly14fs)deletion Pathogenic 373906 rs765906887 3:15676986-15676987 3:15635479-15635480
14 SMCHD1 NM_015295.2(SMCHD1):c.511T>G (p.Phe171Val)SNV Pathogenic 431465 rs1135402740 18:2674017-2674017 18:2674018-2674018
15 TMCO1 NM_019026.4(TMCO1):c.616C>T (p.Arg206Ter)SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
16 SZT2 NM_001365999.1(SZT2):c.5025-2A>GSNV Likely pathogenic 598948 rs1557569831 1:43897129-43897129 1:43431458-43431458
17 FGF14 NM_175929.2(FGF14):c.501dup (p.Arg168fs)duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
18 KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile)SNV Likely pathogenic 523500 rs1554846212 10:76789795-76789795 10:75030037-75030037
19 NIPBL NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer)deletion Likely pathogenic 374171 rs1057518944 5:36985092-36985093 5:36984990-36984991
20 SZT2 NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del)deletion Likely pathogenic 372895 rs746200792 1:43902925-43902927 1:43437254-43437256
21 MEFV NM_000243.2(MEFV):c.2080A>G (p.Met694Val)SNV Conflicting interpretations of pathogenicity 2538 rs61752717 16:3293407-3293407 16:3243407-3243407
22 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup)duplication Conflicting interpretations of pathogenicity 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
23 MEFV NM_000243.2(MEFV):c.986G>A (p.Arg329His)SNV Conflicting interpretations of pathogenicity 97557 rs104895112 16:3299705-3299705 16:3249705-3249705
24 RXFP2 NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro)SNV Uncertain significance 4159 rs121918303 13:32351535-32351535 13:31777398-31777398
25 46;XY;t(4;14)(p15.32;q32.1)dnTranslocation Uncertain significance 267808
26 46;XY;t(16;20)(q11.2;q13.2)dnTranslocation Uncertain significance 267820
27 ARID1B , TMEM242 , ZDHHC14 GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3copy number gain Uncertain significance 523303 6:156772218-157870875
28 LSM1 NM_014462.3(LSM1):c.231+4A>CSNV Uncertain significance 623485 rs775468919 8:38027316-38027316 8:38169798-38169798

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:

7
# 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 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 10.05 SHBG GNRH1 AR
2 9.65 STS CYP19A1

GO Terms for Cryptorchidism, Unilateral or Bilateral

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.71 HOXA10 GNRH1 FGFR1 AR
2 cell-cell signaling GO:0007267 9.67 INSL3 GNRH1 AR AMH
3 multicellular organism growth GO:0035264 9.63 ATRX AR ANKRD11
4 uterus development GO:0060065 9.51 HOXA10 CYP19A1
5 male sex determination GO:0030238 9.49 NR5A1 GNRH1
6 gonad development GO:0008406 9.48 WT1 AMH
7 seminiferous tubule development GO:0072520 9.43 ATRX AR
8 positive regulation of male gonad development GO:2000020 9.32 WT1 NR5A1
9 prostate gland growth GO:0060736 9.26 CYP19A1 AR
10 negative regulation of female gonad development GO:2000195 9.16 WT1 NR5A1
11 sex determination GO:0007530 9.13 WT1 NR5A1 AMH
12 male gonad development GO:0008584 9.02 WT1 RXFP2 NR5A1 HOXA10 AR

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.13 INSL3 GNRH1 AMH
2 androgen binding GO:0005497 8.62 SHBG AR

Sources for Cryptorchidism, Unilateral or Bilateral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
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37 LifeMap
39 LOVD
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43 MeSH
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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