CRYPTO
MCID: CRY035
MIFTS: 57

Cryptorchidism, Unilateral or Bilateral (CRYPTO)

Categories: Endocrine diseases, 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 39
Cryptorchidism 57 12 72 36 29 13 54 6 44 15 17
Undescended Testicle 12 32
Undescended Testis 57 12
Impaired Testicular Descent 72
Undescended Testicles 12
Cryptosporidiosis 70
Cryptorchism 12
Crypto 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
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® 57 219050
KEGG 36 H02176
ICD9CM 34 752.51
MeSH 44 D003456
NCIt 50 C12326
SNOMED-CT 67 204879009
MedGen 41 C0010417
SNOMED-CT via HPO 68 204942005 263681008 268227001
UMLS 70 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 inguinal hernia, 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 is Nongenotropic Androgen signaling. The drugs Propofol and Bupivacaine 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® : 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 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 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 : 73 Cryptorchidism is the absence of one or both testes from the scrotum. The word is from the Greek κρυπτός... 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 512)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 32.6 RXFP2 INSL3 AMH
2 inguinal hernia 32.0 INSL3 AR AMH
3 testicular cancer 31.9 RXFP2 INSL3 GNRH1 AR
4 genitopatellar syndrome 31.9 KAT6B DUSP29
5 testicular torsion 31.9 RXFP2 INSL3 AMH
6 ohdo syndrome, sbbys variant 31.8 KAT6B DUSP29
7 infertility 31.7 RXFP2 INSL3 HOXA10 GNRH1 AR AMH
8 hypospadias 31.6 RXFP2 INSL3 AR
9 anorchia 31.4 RXFP2 INSL3
10 varicocele 31.3 GNRH1 AR AMH
11 disorder of sexual development 31.1 RXFP2 INSL3 GNRH1 AR AMH
12 pseudohermaphroditism 31.1 RXFP2 INSL3 AR AMH
13 oligospermia 31.0 GNRH1 AR AMH
14 microcephaly 31.0 TUBA1A RAB3GAP1 NSD1 NIPBL MFSD2A MEFV
15 renal hypodysplasia/aplasia 1 30.9 TMCO1 GNRH1 AMH
16 androgen insensitivity syndrome 30.8 RXFP2 INSL3 AR AMH
17 hypogonadotropic hypogonadism 30.8 INSL3 GNRH1 AR AMH
18 penis agenesis 30.8 GNRH1 AR
19 testicular disease 30.7 RXFP2 INSL3 GNRH1 AR AMH
20 cleft palate, isolated 30.7 TMCO1 RAB3GAP1 NSD1 NIPBL FGF14
21 alacrima, achalasia, and mental retardation syndrome 30.7 NSD1 MFSD2A KAT6B DUSP29 ATRX ANKRD11
22 uvula, bifid 30.6 NSD1 FGF14
23 clubfoot 30.5 KAT6B HOXA10 DUSP29
24 malignant tumor of undescended testis 11.5
25 torticollis, keloids, cryptorchidism, and renal dysplasia 11.4
26 cryptosporidiosis 11.3
27 ifap syndrome 1, with or without bresheck syndrome 11.3
28 fetal akinesia deformation sequence 1 11.2
29 van benthem-driessen-hanveld syndrome 11.1
30 pacs1 syndrome 11.1
31 testicular germ cell tumor 11.1
32 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
33 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.1
34 penoscrotal transposition 11.1
35 ritscher-schinzel syndrome 1 11.1
36 culler-jones syndrome 11.1
37 chromosome 15, trisomy mosaicism 11.1
38 noonan syndrome 1 11.1
39 schuurs-hoeijmakers syndrome 11.0
40 acrofacial dysostosis, catania type 11.0
41 spinal muscular atrophy, x-linked 2 11.0
42 bosma arhinia microphthalmia syndrome 11.0
43 cryptococcal meningitis 11.0
44 cryptococcosis 11.0
45 anophthalmia esophageal atresia cryptorchidism 10.9
46 arroyo garcia cimadevilla syndrome 10.9
47 mental retardation, x-linked, syndromic, 35 10.9
48 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 10.9
49 spigelian hernia-cryptorchidism syndrome 10.9
50 stratton-parker syndrome 10.9

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®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism, unilateral or bilateral
oligozoospermia, mild (in some patients)
normozoospermia (in some patients)

Clinical features from OMIM®:

219050 (Updated 05-Apr-2021)

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 behavior/neurological MP:0005386 10.03 ANKRD11 AR ATRX FGF14 INSL3 MFSD2A
2 nervous system MP:0003631 9.93 AR ATRX FGF14 GNRH1 HOXA10 MFSD2A
3 reproductive system MP:0005389 9.7 AMH AR ATRX GNRH1 HOXA10 INSL3
4 skeleton MP:0005390 9.32 ANKRD11 AR GNRH1 HOXA10 INSL3 MEFV

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 2078-54-8 4943
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Hypnotics and Sedatives Phase 4
4 Anesthetics, Intravenous Phase 4
5 Anesthetics, General Phase 4
6 Anesthetics Phase 4
7 Narcotics Phase 4
8 Analgesics, Opioid Phase 4
9 Anesthetics, Local Phase 4
10
Nitazoxanide Approved, Investigational, Vet_approved Phase 3 55981-09-4 41684
11 Antiparasitic Agents Phase 3
12 Anti-Infective Agents Phase 3
13 Antiprotozoal Agents Phase 3
14
Sevoflurane Approved, Vet_approved Phase 2 28523-86-6 5206
15
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 5311068 68602
16
tannic acid Approved Phase 2 1401-55-4
17
Levobupivacaine Approved, Investigational Phase 2 27262-47-1 92253
18
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
19
Azithromycin Approved Phase 1, Phase 2 83905-01-5 447043 55185
20
Paromomycin Approved, Investigational Phase 1, Phase 2 1263-89-4, 7542-37-2 165580
21
Clofazimine Approved, Investigational Phase 2 2030-63-9 2794
22 Analgesics Phase 2
23 Analgesics, Non-Narcotic Phase 2
24 Neurotransmitter Agents Phase 2
25 Anesthetics, Inhalation Phase 2
26 Platelet Aggregation Inhibitors Phase 2
27 Adrenergic Agonists Phase 2
28 Adrenergic alpha-Agonists Phase 2
29 Adrenergic Agents Phase 2
30 Anti-Bacterial Agents Phase 2
31 Interleukin-12 Phase 1, Phase 2
32 Anti-Inflammatory Agents Phase 2
33
Loperamide Approved Phase 1 53179-11-6 3955
34
Spiramycin Approved Phase 1 24916-50-5
35 Antidiarrheals Phase 1
36 Immunoglobulins Phase 1
37 Antibodies Phase 1
38 Immunoglobulins, Intravenous Phase 1
39 Whey Protein Phase 1
40 Vaccines Phase 1
41
Acetaminophen Approved 103-90-2 1983
42
Ondansetron Approved 99614-02-5 4595
43
Morphine Approved, Investigational 57-27-2 5288826
44
Remifentanil Approved 132875-61-7 60815
45
Ketorolac Approved 74103-06-3, 66635-83-4 3826
46
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
47
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
48
Ropivacaine Approved 84057-95-4 71273 175805
49
Diclazuril Investigational, Vet_approved 101831-37-2
50 Gastrointestinal Agents

Interventional clinical trials:

(show all 49)
# 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 Not yet recruiting NCT04826484 Phase 4 Exparel 133 MG Per 10 ML 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 A Phase II/III Placebo-Controlled Study of Nitazoxanide (NTZ) For Persons With AIDS and Cryptosporidiosis Completed NCT00001081 Phase 2 Nitazoxanide
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 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
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 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
9 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
10 Phase I/II Open Label Evaluation of Nitazoxanide for the Treatment of Cryptosporidiosis in AIDS Patients Completed NCT00002444 Phase 1 Nitazoxanide
11 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
12 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)
13 Single-Blind Efficacy Evaluation of Intravenous Spiramycin in Subjects With AIDS-Related Cryptosporidial Diarrhea Completed NCT00000980 Phase 1 Spiramycin
14 Comparison Between the Clinical Assessment of the Undescended Testis and Its' Ultrasonographic Size Unknown status NCT02731989
15 The Incidence of Congenital Undescended Testis Among Dutch Infants in the Medical Centre Alkmaar Unknown status NCT00264121
16 Randomized Control Study for Patient With Abdominal Undescended Testis Using New Technique Unknown status NCT03291678
17 Open-Label Compassionate Use of Nitazoxanide for the Treatment of Cryptosporidiosis in AIDS Patients Unknown status NCT00002158 Nitazoxanide
18 Evaluating Pain Outcomes of Caudal vs Ilioinguinal Nerve Block in Children Undergoing Orchiopexy Repair Unknown status NCT03041935 Acetaminophen;Sevoflurane;Remifentanil;Propofol;Morphine;Ondansetron;Dexamethasone;Ketorolac;Ropivacaine
19 A Novel Technique of Circumcision Incision Orchidopexy for Palpable Low Inguinal Cryptorchidism: A Preliminary Report Completed NCT02249637
20 Long-Term Outcome in Congenital Undescended Testis After Surgical Treatment by Orchidopexy Completed NCT00253253
21 Expertise-Based Randomized Controlled Trial of Scrotal Versus Inguinal (Standard) Orchidopexy on Postoperative Pain: EXPRESSO Trial Completed NCT02158780
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 Oxygen Saturation During Transfer From Operating Room to Post Anesthesia Care Unit After Current Anesthesia Care Completed NCT00435383
25 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
26 Oral/Intravenous Azithromycin in the Treatment of Cryptosporidiosis in Patients Whose Disease Has Not Been Controlled by Conventional Therapy Completed NCT00002328 Azithromycin
27 28 Day Protocol for the Treatment of Cryptosporidiosis in AIDS Patients With Diclazuril (R64,433) Completed NCT00002278 Diclazuril
28 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)
29 Protocol For the Treatment of Cryptosporidiosis in AIDS Patients With Diclazuril (R64,433) Completed NCT00002027 Diclazuril
30 Open-Label "Compassionate" Use Study of Spiramycin for the Treatment of Diarrhea Due to Chronic Cryptosporidiosis in Immunocompromised Patients Completed NCT00002062 Spiramycin
31 Prevalence and Clinical Presentation of Respiratory Cryptosporidiosis Among Children With Diarrhea in Mulago Hospital, Uganda Completed NCT00507871
32 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
33 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
34 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Completed NCT03575377
35 Interactive Perioperative Teaching Platform (IPTP) Completed NCT03677453
36 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
37 Safety and Efficiency of Laparoscopic Management of Intra-canalicular (Emergent) Testis Completed NCT04821167
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 The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate Recruiting NCT01601171
41 Randomized Trial of One Stage vs Two Stage Orchidopexy for Abdominal Undescended Testis Recruiting NCT02235623
42 Role of the Environment and Endocrine Disruptors in Child Cryptorchidism Recruiting NCT04342026
43 One Stage vs. Two Stage Gubernaculum Sparing Laparoscopic Orchidopexy: A Randomized Controlled Trial Recruiting NCT02936024
44 Development of an Effective Treatment of Cryptosporidiosis in Bangladeshi Children Recruiting NCT04103216
45 Field Studies of Cryptosporidiosis and Enteropathogens in Bangladesh Active, not recruiting NCT02764918
46 Role of Laparoscopy in Management of Non-palpable Undescended Testis : Assuit University Experience Not yet recruiting NCT04528381
47 Role of the Protozoa Cryptosporidium in the Development of Colorectal Cancer in Humans Not yet recruiting NCT04332705
48 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 NCT00001128 Interleukin-12;Paromomycin sulfate;Azithromycin
49 Study of Patients With Parasitic Infections of the Gastrointestinal Tract Terminated NCT00001162

Search NIH Clinical Center for Cryptorchidism, Unilateral or Bilateral

Inferred drug relations via UMLS 70 / NDF-RT 51 :


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, Placenta, Brain

Publications for Cryptorchidism, Unilateral or Bilateral

Articles related to Cryptorchidism, Unilateral or Bilateral:

(show top 50) (show all 4948)
# Title Authors PMID Year
1
A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. 57 6 54 61
12601553 2003
2
Insulin-like 3/relaxin-like factor gene mutations are associated with cryptorchidism. 61 54 6 57
11095425 2000
3
The INSL3-LGR8/GREAT ligand-receptor pair in human cryptorchidism. 61 57 6
12970298 2003
4
Mutations of the GREAT gene cause cryptorchidism. 61 54 57
12217959 2002
5
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism. 6 54 61
11746019 2001
6
A transgenic insertion causing cryptorchidism in mice. 61 57
11353515 2001
7
Cryptorchidism in mice mutant for Insl3. 57 61
10391220 1999
8
Targeted disruption of the Insl3 gene causes bilateral cryptorchidism. 61 57
10319319 1999
9
Associated renal anomalies in familial cryptorchidism. 61 57
89356 1979
10
Letter: Familial cryptorchidism. 61 57
241049 1975
11
Hereditary cryptorchidism. 57 61
4389642 1969
12
Cryptorchidism in Three Brothers. 57 61
20786638 1946
13
Whole-genome sequencing of patients with rare diseases in a national health system. 6
32581362 2020
14
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. 6
28067909 2017
15
Genetics of undescended testis. 57
6116809 1981
16
[Azoospermia factor and male infertility]. 54 61
20369704 2010
17
Decreased expression of FGFR1, SOS1, RAF1 genes in cryptorchidism. 61 54
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. 54 61
18336537 2009
19
A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor. 54 61
19048299 2009
20
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 61 54
19567835 2009
21
Neoadjuvant gonadotropin-releasing hormone therapy before surgery and effect on fertility index in unilateral undescended testes: a prospective randomized trial. 61 54
19371931 2009
22
Treatment with human chorionic gonadotropin induces left ventricular mass in cryptorchid boys. 61 54
19618664 2009
23
INSL3/RXFP2 signaling in testicular descent. 54 61
19416188 2009
24
Mutations in INSL3 and RXFP2 genes in cryptorchid boys. 61 54
19416190 2009
25
New roles for INSL3 in adults. 54 61
19416191 2009
26
Factors controlling testis descent. 54 61
18647820 2008
27
Genetic alterations associated with cryptorchidism. 54 61
19017913 2008
28
[Genetic causes of male infertility]. 61 54
19004117 2008
29
Role of hormones, genes, and environment in human cryptorchidism. 61 54
18436703 2008
30
Undescended testis: current theories of etiology. 54 61
18520761 2008
31
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. 54 61
18073304 2008
32
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. 61 54
18772597 2008
33
Hormonal and genetic control of testicular descent. 54 61
18062862 2007
34
Prolonged human chorionic gonadotrophin stimulation as a tool for investigating and managing undescended testes. 61 54
17645564 2007
35
Insulin-like factor 3 levels in cord blood and serum from children: effects of age, postnatal hypothalamic-pituitary-gonadal axis activation, and cryptorchidism. 61 54
17666478 2007
36
Developmental expression and gene regulation of insulin-like 3 receptor RXFP2 in mouse male reproductive organs. 61 54
17615407 2007
37
[Molecular and anatomical studies of testicular descent]. 61 54
17702188 2007
38
Novel mutations involving the INSL3 gene associated with cryptorchidism. 61 54
17437853 2007
39
Luteinizing hormone in testicular descent. 54 61
17363139 2007
40
Structural analysis of gubernaculum testis in cryptorchid patients submitted to treatment with human chorionic gonadotrophin. 54 61
17488543 2007
41
Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. 61 54
17028442 2007
42
Relaxin and related peptides in male reproduction. 61 54
18161481 2007
43
Relaxin, the relaxin-like factor and their receptors. 61 54
18161478 2007
44
T222P mutation of the insulin-like 3 hormone receptor LGR8 is associated with testicular maldescent and hinders receptor expression on the cell surface membrane. 61 54
16926383 2007
45
The use of human chorionic gonadotropin (HCG) for penile reconstruction in bladder exstrophy and total epispadias patients. 54 61
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. 61 54
16978284 2006
47
Effects of hormonal treatment on the contralateral descended testis in unilateral cryptorchidism. 54 61
18947658 2006
48
Evaluation of low-dose hCG treatment for cryptorchidism. 54 61
17172066 2006
49
Paracrine and endocrine roles of insulin-like factor 3. 61 54
16957417 2006
50
Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization. 54 61
16687567 2006

Variations for Cryptorchidism, Unilateral or Bilateral

ClinVar genetic disease variations for Cryptorchidism, Unilateral or Bilateral:

6 (show all 27)
# 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.305G>A (p.Arg102His) SNV Pathogenic 14832 rs121912556 GRCh37: 19:17927754-17927754
GRCh38: 19:17816945-17816945
5 INSL3 NM_005543.4(INSL3):c.217C>T (p.Arg73Ter) SNV Pathogenic 37092 rs398122886 GRCh37: 19:17927842-17927842
GRCh38: 19:17817033-17817033
6 SMCHD1 NM_015295.2(SMCHD1):c.511T>G (p.Phe171Val) SNV Pathogenic 431465 rs1135402740 GRCh37: 18:2674017-2674017
GRCh38: 18:2674018-2674018
7 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 GRCh37: 5:176662864-176662864
GRCh38: 5:177235863-177235863
8 MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23del Deletion Pathogenic 684729 rs1570238098 GRCh37: 1:40424346-40424348
GRCh38: 1:39958674-39958676
9 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 GRCh37: 1:165712409-165712409
GRCh38: 1:165743172-165743172
10 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic 242882 rs1114167291 GRCh37: 16:89347633-89347633
GRCh38: 16:89281225-89281225
11 RAB3GAP1 NM_012233.3(RAB3GAP1):c.151-5T>G SNV Pathogenic 996741 GRCh37: 2:135848563-135848563
GRCh38: 2:135090993-135090993
12 TUBA1A NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) SNV Pathogenic 208490 rs797045005 GRCh37: 12:49578923-49578923
GRCh38: 12:49185140-49185140
13 overlap with 46 genes GRCh37/hg19 22q11.21(chr22:18909044-21464119) copy number gain Pathogenic 997057 GRCh37: 22:18909044-21464119
GRCh38:
14 ATRX NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic 11728 rs122445099 GRCh37: X:76776310-76776310
GRCh38: X:77520832-77520832
15 MEFV NM_000243.3(MEFV):c.2080A>G SNV Pathogenic 2538 rs61752717 GRCh37: 16:3293407-3293407
GRCh38: 16:3243407-3243407
16 overlap with 70 genes GRCh37/hg19 9q34.3(chr9:139284464-141018984) copy number loss Pathogenic 1047897 GRCh37: 9:139284464-141018984
GRCh38:
17 SZT2 NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) Deletion Likely pathogenic 372895 rs746200792 GRCh37: 1:43902925-43902927
GRCh38: 1:43437254-43437256
18 DUSP29 , KAT6B NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) SNV Likely pathogenic 523500 rs1554846212 GRCh37: 10:76789795-76789795
GRCh38: 10:75030037-75030037
19 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs) Duplication Likely pathogenic 598976 rs1566823361 GRCh37: 13:102379082-102379083
GRCh38: 13:101726732-101726733
20 SZT2 NM_001365999.1(SZT2):c.5025-2A>G SNV Likely pathogenic 598948 rs1557569831 GRCh37: 1:43897129-43897129
GRCh38: 1:43431458-43431458
21 NIPBL NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) Deletion Likely pathogenic 374171 rs1057518944 GRCh37: 5:36985092-36985093
GRCh38: 5:36984990-36984991
22 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 GRCh37: X:139586488-139586489
GRCh38: X:140504323-140504324
23 overlap with 3 genes GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3 copy number gain Uncertain significance 523303 GRCh37: 6:156772218-157870875
GRCh38:
24 BTD NM_001370658.1(BTD):c.40_41del (p.Gly14fs) Deletion Uncertain significance 373906 rs765906887 GRCh37: 3:15676986-15676987
GRCh38: 3:15635479-15635480
25 MEFV NM_000243.2(MEFV):c.986G>A (p.Arg329His) SNV Uncertain significance 97557 rs104895112 GRCh37: 16:3299705-3299705
GRCh38: 16:3249705-3249705
26 LSM1 NM_014462.3(LSM1):c.231+4A>C SNV Uncertain significance 623485 rs775468919 GRCh37: 8:38027316-38027316
GRCh38: 8:38169798-38169798
27 RXFP2 NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro) SNV Uncertain significance 4159 rs121918303 GRCh37: 13:32351535-32351535
GRCh38: 13:31777398-31777398

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

72
# 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 9.88 GNRH1 AR

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 chromatin organization GO:0006325 9.71 SMCHD1 NSD1 KAT6B ATRX
2 regulation of gene expression GO:0010468 9.65 NIPBL MEFV HOXA10 GNRH1 AR
3 male gonad development GO:0008584 9.54 RXFP2 HOXA10 AR
4 face morphogenesis GO:0060325 9.33 RAB3GAP1 NIPBL ANKRD11
5 seminiferous tubule development GO:0072520 9.32 ATRX AR
6 cell-cell signaling GO:0007267 9.02 INSL3 GNRH1 FGF14 AR AMH
7 regulation of developmental growth GO:0048638 8.96 NIPBL 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 chromo shadow domain binding GO:0070087 8.62 NIPBL ATRX

Sources for Cryptorchidism, Unilateral or Bilateral

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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