CRYPTO
MCID: CRY035
MIFTS: 58

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 73 36 29 13 54 6 44 15 17
Undescended Testicle 12 32
Undescended Testis 57 12
Impaired Testicular Descent 73
Undescended Testicles 12
Cryptosporidiosis 71
Cryptorchism 12
Crypto 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-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 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 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 Anesthetics 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-Mar-2021)

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 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 506)
# Related Disease Score Top Affiliating Genes
1 persistent mullerian duct syndrome 32.6 WT1 RXFP2 NR5A1 INSL3 AMH
2 inguinal hernia 32.1 WT1 INSL3 AR AMH
3 kallmann syndrome 32.0 NR5A1 INSL3 GNRH1 AMH
4 testicular cancer 31.9 RXFP2 INSL3 GNRH1 AR
5 hypospadias 31.7 WT1 RXFP2 NR5A1 INSL3 AR
6 infertility 31.7 RXFP2 NR5A1 INSL3 HOXA10 GNRH1 AR
7 anorchia 31.5 RXFP2 NR5A1 INSL3
8 testicular torsion 31.5 RXFP2 INSL3
9 varicocele 31.3 GNRH1 AR AMH
10 disorder of sexual development 31.1 WT1 RXFP2 NR5A1 INSL3 GNRH1 AR
11 pseudohermaphroditism 31.1 WT1 NR5A1 INSL3 AR AMH
12 male infertility 31.1 WT1 RXFP2 NR5A1 INSL3 GNRH1 AR
13 leydig cell tumor 31.0 NR5A1 INSL3 GNRH1
14 renal hypodysplasia/aplasia 1 31.0 WT1 TMCO1 GNRH1 AMH
15 oligospermia 31.0 GNRH1 AR AMH
16 gonadal dysgenesis 31.0 WT1 NR5A1 ATRX AMH
17 sertoli cell tumor 30.9 WT1 NR5A1 AR
18 hypogonadotropic hypogonadism 30.9 NR5A1 INSL3 GNRH1 AR AMH
19 androgen insensitivity syndrome 30.9 RXFP2 NR5A1 INSL3 AR AMH
20 penis agenesis 30.7 GNRH1 AR
21 testicular disease 30.7 RXFP2 INSL3 GNRH1 AR AMH
22 uvula, bifid 30.6 NSD1 FGF14
23 cleft palate, isolated 30.3 TMCO1 NSD1 NIPBL FGF14
24 malignant tumor of undescended testis 11.5
25 torticollis, keloids, cryptorchidism, and renal dysplasia 11.4
26 cryptosporidiosis 11.3
27 fetal akinesia deformation sequence 1 11.2
28 ifap syndrome 1, with or without bresheck syndrome 11.2
29 mcdonough syndrome 11.1
30 caudal appendage deafness 11.1
31 van benthem-driessen-hanveld syndrome 11.1
32 testicular germ cell tumor 11.1
33 pacs1 syndrome 11.1
34 hypogonadotropic hypogonadism 1 with or without anosmia 11.1
35 congenital lipomatous overgrowth, vascular malformations, and epidermal nevi 11.1
36 penoscrotal transposition 11.1
37 ritscher-schinzel syndrome 1 11.1
38 culler-jones syndrome 11.1
39 chromosome 15, trisomy mosaicism 11.1
40 noonan syndrome 1 11.1
41 schuurs-hoeijmakers syndrome 11.0
42 acrofacial dysostosis, catania type 11.0
43 spinal muscular atrophy, x-linked 2 11.0
44 bosma arhinia microphthalmia syndrome 11.0
45 cryptococcal meningitis 11.0
46 cryptococcosis 11.0
47 anophthalmia esophageal atresia cryptorchidism 10.9
48 arroyo garcia cimadevilla syndrome 10.9
49 singh chhaparwal dhanda syndrome 10.9
50 mental retardation, x-linked, syndromic, 35 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-Mar-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-Mar-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 10.18 ANKRD11 AR ATRX FGF14 INSL3 MFSD2A
2 growth/size/body region MP:0005378 10.1 ANKRD11 AR ATRX FGF14 GNRH1 HOXA10
3 embryo MP:0005380 10.07 ANKRD11 AR ATRX MFSD2A NIPBL NR5A1
4 endocrine/exocrine gland MP:0005379 9.97 AMH AR GNRH1 HOXA10 INSL3 MFSD2A
5 nervous system MP:0003631 9.93 AR ATRX FGF14 GNRH1 HOXA10 MFSD2A
6 reproductive system MP:0005389 9.77 AMH AR ATRX GNRH1 HOXA10 INSL3
7 skeleton MP:0005390 9.28 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 71)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
2 Anesthetics Phase 4
3 Hypnotics and Sedatives Phase 4
4 Anesthetics, Intravenous Phase 4
5 Anesthetics, General Phase 4
6
Nitazoxanide Approved, Investigational, Vet_approved Phase 3 55981-09-4 41684
7 Anti-Infective Agents Phase 3
8 Antiparasitic Agents Phase 3
9 Antiprotozoal Agents Phase 3
10
Dexmedetomidine Approved, Vet_approved Phase 2 113775-47-6 68602 5311068
11
Levobupivacaine Approved, Investigational Phase 2 27262-47-1 92253
12
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
13
Sevoflurane Approved, Vet_approved Phase 2 28523-86-6 5206
14
tannic acid Approved Phase 2 1401-55-4
15
Paromomycin Approved, Investigational Phase 1, Phase 2 7542-37-2, 1263-89-4 165580
16
Azithromycin Approved Phase 1, Phase 2 83905-01-5 55185 447043
17
Clofazimine Approved, Investigational Phase 2 2030-63-9 2794
18 Analgesics Phase 2
19 Adrenergic alpha-Agonists Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Neurotransmitter Agents Phase 2
22 Anesthetics, Inhalation Phase 2
23 Anesthetics, Local Phase 2
24 Platelet Aggregation Inhibitors Phase 2
25 Adrenergic Agents Phase 2
26 Adrenergic Agonists Phase 2
27 Interleukin-12 Phase 1, Phase 2
28 Anti-Bacterial Agents Phase 2
29 Anti-Inflammatory Agents Phase 2
30
Loperamide Approved Phase 1 53179-11-6 3955
31
Spiramycin Approved Phase 1 24916-50-5
32 Antidiarrheals Phase 1
33 Immunoglobulins Phase 1
34 Immunoglobulins, Intravenous Phase 1
35 Antibodies Phase 1
36 Whey Protein Phase 1
37 Vaccines Phase 1
38
Ketorolac Approved 74103-06-3, 66635-83-4 3826
39
Remifentanil Approved 132875-61-7 60815
40
Acetaminophen Approved 103-90-2 1983
41
Ondansetron Approved 99614-02-5 4595
42
Morphine Approved, Investigational 57-27-2 5288826
43
Dexamethasone acetate Approved, Investigational, Vet_approved 1177-87-3
44
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
45
Ropivacaine Approved 84057-95-4 71273 175805
46
Diclazuril Investigational, Vet_approved 101831-37-2
47 Gastrointestinal Agents
48 Hormones
49 Hormone Antagonists
50 Cyclooxygenase Inhibitors

Interventional clinical trials:

(show all 47)
# 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 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
3 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
4 A Phase II/III Placebo-Controlled Study of Nitazoxanide (NTZ) For Persons With AIDS and Cryptosporidiosis Completed NCT00001081 Phase 2 Nitazoxanide
5 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
6 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
7 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
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 Phase I/II Open Label Evaluation of Nitazoxanide for the Treatment of Cryptosporidiosis in AIDS Patients Completed NCT00002444 Phase 1 Nitazoxanide
10 Single-Blind Efficacy Evaluation of Intravenous Spiramycin in Subjects With AIDS-Related Cryptosporidial Diarrhea Completed NCT00000980 Phase 1 Spiramycin
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 Comparison Between the Clinical Assessment of the Undescended Testis and Its' Ultrasonographic Size Unknown status NCT02731989
14 The Incidence of Congenital Undescended Testis Among Dutch Infants in the Medical Centre Alkmaar Unknown status NCT00264121
15 Randomized Control Study for Patient With Abdominal Undescended Testis Using New Technique Unknown status NCT03291678
16 Open-Label Compassionate Use of Nitazoxanide for the Treatment of Cryptosporidiosis in AIDS Patients Unknown status NCT00002158 Nitazoxanide
17 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
18 A Novel Technique of Circumcision Incision Orchidopexy for Palpable Low Inguinal Cryptorchidism: A Preliminary Report Completed NCT02249637
19 Long-Term Outcome in Congenital Undescended Testis After Surgical Treatment by Orchidopexy Completed NCT00253253
20 Spectrum of Epididymis and Vas Deferens Anomalies Among Children With Cryptorchidism: A Retrospective Multi-center Study Completed NCT04696874
21 Cryptorchidism: Impact of in Utero Exposure to Xenobiotics With Hormonal Action and Multidisciplinary Completed NCT00565513
22 Oxygen Saturation During Transfer From Operating Room to Post Anesthesia Care Unit After Current Anesthesia Care Completed NCT00435383
23 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
24 Oral/Intravenous Azithromycin in the Treatment of Cryptosporidiosis in Patients Whose Disease Has Not Been Controlled by Conventional Therapy Completed NCT00002328 Azithromycin
25 Protocol For the Treatment of Cryptosporidiosis in AIDS Patients With Diclazuril (R64,433) Completed NCT00002027 Diclazuril
26 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
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 Open-Label "Compassionate" Use Study of Spiramycin for the Treatment of Diarrhea Due to Chronic Cryptosporidiosis in Immunocompromised Patients Completed NCT00002062 Spiramycin
30 Prevalence and Clinical Presentation of Respiratory Cryptosporidiosis Among Children With Diarrhea in Mulago Hospital, Uganda Completed NCT00507871
31 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
32 Opioid Use, Storage, and Disposal Among Pediatric Patients After Surgery Completed NCT03575377
33 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
34 Interactive Perioperative Teaching Platform (IPTP) Completed NCT03677453
35 Breast Milk Composition and HIV-exposed/Unexposed Early Infant Growth and Infectious Disease Events Completed NCT01699841
36 Pilot Intervention Trial of Ceramic Water Filters to Reduce the Burden of Cryptosporidium in Household Drinking Water in Rural Kenya. Completed NCT01695304
37 The Genetics of Neuroendocrine Reproductive Disorders and of the Cleft Lip and/or Palate Recruiting NCT01601171
38 Randomized Trial of One Stage vs Two Stage Orchidopexy for Abdominal Undescended Testis Recruiting NCT02235623
39 Role of the Environment and Endocrine Disruptors in Child Cryptorchidism Recruiting NCT04342026
40 One Stage vs. Two Stage Gubernaculum Sparing Laparoscopic Orchidopexy: A Randomized Controlled Trial Recruiting NCT02936024
41 Development of an Effective Treatment of Cryptosporidiosis in Bangladeshi Children Recruiting NCT04103216
42 Expertise-Based Randomized Controlled Trial of Scrotal Versus Inguinal (Standard) Orchidopexy on Postoperative Pain: EXPRESSO Trial Active, not recruiting NCT02158780
43 Field Studies of Cryptosporidiosis and Enteropathogens in Bangladesh Active, not recruiting NCT02764918
44 Role of Laparoscopy in Management of Non-palpable Undescended Testis : Assuit University Experience Not yet recruiting NCT04528381
45 Role of the Protozoa Cryptosporidium in the Development of Colorectal Cancer in Humans Not yet recruiting NCT04332705
46 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
47 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 71 / 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 4907)
# Title Authors PMID Year
1
A novel mutation of the insulin-like 3 gene in patients with cryptorchidism. 61 57 6 54
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. 57 6 61
12970298 2003
4
Mutations of the GREAT gene cause cryptorchidism. 57 54 61
12217959 2002
5
Novel insulin-like 3 (INSL3) gene mutation associated with human cryptorchidism. 6 61 54
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. 57 61
10319319 1999
9
Associated renal anomalies in familial cryptorchidism. 57 61
89356 1979
10
Letter: Familial cryptorchidism. 61 57
241049 1975
11
Hereditary cryptorchidism. 57 61
4389642 1969
12
Cryptorchidism in Three Brothers. 61 57
20786638 1946
13
Genetics of undescended testis. 57
6116809 1981
14
[Azoospermia factor and male infertility]. 54 61
20369704 2010
15
Decreased expression of FGFR1, SOS1, RAF1 genes in cryptorchidism. 61 54
20389169 2010
16
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
17
A novel WT1 mutation in a 46,XY boy with congenital bilateral cryptorchidism, nystagmus and Wilms tumor. 54 61
19048299 2009
18
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 54 61
19567835 2009
19
Neoadjuvant gonadotropin-releasing hormone therapy before surgery and effect on fertility index in unilateral undescended testes: a prospective randomized trial. 61 54
19371931 2009
20
Treatment with human chorionic gonadotropin induces left ventricular mass in cryptorchid boys. 54 61
19618664 2009
21
INSL3/RXFP2 signaling in testicular descent. 54 61
19416188 2009
22
Mutations in INSL3 and RXFP2 genes in cryptorchid boys. 54 61
19416190 2009
23
New roles for INSL3 in adults. 54 61
19416191 2009
24
Factors controlling testis descent. 61 54
18647820 2008
25
Genetic alterations associated with cryptorchidism. 54 61
19017913 2008
26
[Genetic causes of male infertility]. 61 54
19004117 2008
27
Role of hormones, genes, and environment in human cryptorchidism. 61 54
18436703 2008
28
Undescended testis: current theories of etiology. 54 61
18520761 2008
29
The leucine-rich repeat-containing G protein-coupled receptor 8 gene T222P mutation does not cause cryptorchidism. 61 54
18073304 2008
30
No association between T222P/LGR8 mutation and cryptorchidism in the Moroccan population. 61 54
18772597 2008
31
Hormonal and genetic control of testicular descent. 54 61
18062862 2007
32
Prolonged human chorionic gonadotrophin stimulation as a tool for investigating and managing undescended testes. 61 54
17645564 2007
33
Developmental expression and gene regulation of insulin-like 3 receptor RXFP2 in mouse male reproductive organs. 54 61
17615407 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
[Molecular and anatomical studies of testicular descent]. 61 54
17702188 2007
36
Novel mutations involving the INSL3 gene associated with cryptorchidism. 54 61
17437853 2007
37
Luteinizing hormone in testicular descent. 61 54
17363139 2007
38
Structural analysis of gubernaculum testis in cryptorchid patients submitted to treatment with human chorionic gonadotrophin. 61 54
17488543 2007
39
Relaxin and related peptides in male reproduction. 61 54
18161481 2007
40
Relaxin, the relaxin-like factor and their receptors. 61 54
18161478 2007
41
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
42
Mutation and polymorphism analyses of INSL3 and LGR8/GREAT in 62 Japanese patients with cryptorchidism. 54 61
17028442 2007
43
The use of human chorionic gonadotropin (HCG) for penile reconstruction in bladder exstrophy and total epispadias patients. 54 61
17211793 2006
44
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
45
Effects of hormonal treatment on the contralateral descended testis in unilateral cryptorchidism. 61 54
18947658 2006
46
Paracrine and endocrine roles of insulin-like factor 3. 61 54
16957417 2006
47
Evaluation of low-dose hCG treatment for cryptorchidism. 54 61
17172066 2006
48
Insulin-like factor 3 gene mutations in testicular dysgenesis syndrome: clinical and functional characterization. 61 54
16687567 2006
49
The CAG repeat within the androgen receptor gene and its relationship to cryptorchidism. 61 54
16813680 2006
50
[HCG in the treatment of cryptorchidism. The effect of age and position of the testis]. 61 54
16584676 2006

Variations for Cryptorchidism, Unilateral or Bilateral

ClinVar genetic disease variations for Cryptorchidism, Unilateral or Bilateral:

6 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 INSL3 NM_005543.4(INSL3):c.330C>G (p.Asn110Lys) SNV Pathogenic 14829 rs121912555 19:17927729-17927729 19:17816920-17816920
2 INSL3 NM_005543.4(INSL3):c.278C>T (p.Pro93Leu) SNV Pathogenic 14830 rs104894697 19:17927781-17927781 19:17816972-17816972
3 INSL3 NM_005543.4(INSL3):c.304C>T (p.Arg102Cys) SNV Pathogenic 14831 rs104894698 19:17927755-17927755 19:17816946-17816946
4 INSL3 NM_005543.4(INSL3):c.305G>A (p.Arg102His) SNV Pathogenic 14832 rs121912556 19:17927754-17927754 19:17816945-17816945
5 INSL3 NM_005543.4(INSL3):c.217C>T (p.Arg73Ter) SNV Pathogenic 37092 rs398122886 19:17927842-17927842 19:17817033-17817033
6 ANKRD11 NM_013275.6(ANKRD11):c.5317G>T (p.Glu1773Ter) SNV Pathogenic 242882 rs1114167291 16:89347633-89347633 16:89281225-89281225
7 SMCHD1 NM_015295.2(SMCHD1):c.511T>G (p.Phe171Val) SNV Pathogenic 431465 rs1135402740 18:2674017-2674017 18:2674018-2674018
8 TMCO1 NM_019026.6(TMCO1):c.463C>T (p.Arg155Ter) SNV Pathogenic 598963 rs765379963 1:165712409-165712409 1:165743172-165743172
9 MFSD2A NM_032793.5(MFSD2A):c.229-25_229-23del Deletion Pathogenic 684729 rs1570238098 1:40424346-40424348 1:39958674-39958676
10 TUBA1A NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala) SNV Pathogenic 208490 rs797045005 12:49578923-49578923 12:49185140-49185140
11 MEFV NM_000243.3(MEFV):c.2080A>G SNV Pathogenic 2538 rs61752717 16:3293407-3293407 16:3243407-3243407
12 NSD1 NM_022455.4(NSD1):c.3839G>A (p.Trp1280Ter) SNV Pathogenic 159315 rs587784105 5:176662864-176662864 5:177235863-177235863
13 ATRX NM_000489.5(ATRX):c.7156C>T (p.Arg2386Ter) SNV Pathogenic 11728 rs122445099 X:76776310-76776310 X:77520832-77520832
14 FGF14 NM_004115.3(FGF14):c.486dup (p.Arg163fs) Duplication Likely pathogenic 598976 rs1566823361 13:102379082-102379083 13:101726732-101726733
15 NIPBL NM_133433.4(NIPBL):c.1811_1812del (p.Lys603_Ser604insTer) Deletion Likely pathogenic 374171 rs1057518944 5:36985092-36985093 5:36984990-36984991
16 DUSP29 NM_012330.4(KAT6B):c.5213C>T (p.Thr1738Ile) SNV Likely pathogenic 523500 rs1554846212 10:76789795-76789795 10:75030037-75030037
17 SZT2 NM_001365999.1(SZT2):c.5025-2A>G SNV Likely pathogenic 598948 rs1557569831 1:43897129-43897129 1:43431458-43431458
18 SZT2 NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) Deletion Likely pathogenic 372895 rs746200792 1:43902925-43902927 1:43437254-43437256
19 SOX3 NM_005634.2(SOX3):c.735_737dup (p.Ala248dup) Duplication Uncertain significance 95305 rs398124211 X:139586488-139586489 X:140504323-140504324
20 BTD NM_001370658.1(BTD):c.40_41del (p.Gly14fs) Deletion Uncertain significance 373906 rs765906887 3:15676986-15676987 3:15635479-15635480
21 ARID1B GRCh37/hg19 6q25.3(chr6:156772218-157870875)x3 copy number gain Uncertain significance 523303 6:156772218-157870875
22 MEFV NM_000243.2(MEFV):c.986G>A (p.Arg329His) SNV Uncertain significance 97557 rs104895112 16:3299705-3299705 16:3249705-3249705
23 LSM1 NM_014462.3(LSM1):c.231+4A>C SNV Uncertain significance 623485 rs775468919 8:38027316-38027316 8:38169798-38169798
24 RXFP2 NM_130806.5(RXFP2):c.664A>C (p.Thr222Pro) SNV Uncertain significance 4159 rs121918303 13:32351535-32351535 13:31777398-31777398

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 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:

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.99 WT1 NR5A1 NIPBL HOXA10 ATRX AR
2 regulation of gene expression GO:0010468 9.77 NIPBL MEFV HOXA10 GNRH1 AR
3 cell-cell signaling GO:0007267 9.55 INSL3 GNRH1 FGF14 AR AMH
4 adrenal gland development GO:0030325 9.49 WT1 NR5A1
5 seminiferous tubule development GO:0072520 9.48 ATRX AR
6 gonad development GO:0008406 9.46 WT1 AMH
7 male sex determination GO:0030238 9.43 NR5A1 GNRH1
8 positive regulation of male gonad development GO:2000020 9.4 WT1 NR5A1
9 negative regulation of female gonad development GO:2000195 9.32 WT1 NR5A1
10 regulation of developmental growth GO:0048638 9.26 NIPBL AR
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 chromatin binding GO:0003682 9.35 NSD1 NR5A1 NIPBL ATRX AR
2 hormone activity GO:0005179 9.33 INSL3 GNRH1 AMH
3 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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....