CRYPTO
MCID: CRY002
MIFTS: 60

Cryptorchidism (CRYPTO) malady

Categories: Genetic diseases, Reproductive diseases

Aliases & Classifications for Cryptorchidism

Aliases & Descriptions for Cryptorchidism:

Name: Cryptorchidism 54 12 66 29 13 52 42 14
Cryptorchidism, Unilateral or Bilateral 29
Impaired Testicular Descent 66
Undescended Testicles 12
Undescended Testicle 12
Undescended Testis 12
Cryptosporidiosis 69
Cryptorchism 12
Crypto 66

Characteristics:

HPO:

32
cryptorchidism:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 219050
Disease Ontology 12 DOID:11383
ICD9CM 35 752.51
MeSH 42 D003456
NCIt 47 C12326
MedGen 40 C0010417
UMLS 69 C0010417

Summaries for Cryptorchidism

OMIM : 54 Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial... (219050) more...

MalaCards based summary : Cryptorchidism, also known as cryptorchidism, unilateral or bilateral, is related to malignant tumor of undescended testis and torticollis, keloids, cryptorchidism, and renal dysplasia, and has symptoms including renal agenesis, unilateral cryptorchidism and fever. An important gene associated with Cryptorchidism is INSL3 (Insulin Like 3), and among its related pathways/superpathways are TGF-beta Signaling Pathways and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. The drugs Sevoflurane and Propofol have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and pituitary, and related phenotypes are endocrine/exocrine gland and growth/size/body region

UniProtKB/Swiss-Prot : 66 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 : 71 Cryptorchidism is the absence of one or both testes from the scrotum. It is the most common birth defect... more...

Related Diseases for Cryptorchidism

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

(show top 50) (show all 176)
id Related Disease Score Top Affiliating Genes
1 malignant tumor of undescended testis 12.3
2 torticollis, keloids, cryptorchidism, and renal dysplasia 12.0
3 anophthalmia esophageal atresia cryptorchidism 11.7
4 cryptorchidism arachnodactyly mental retardation 11.7
5 cryptorchidism-arachnodactyly-intellectual disability syndrome 11.7
6 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 11.7
7 spigelian hernia-cryptorchidism syndrome 11.7
8 x-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 11.7
9 prune belly syndrome 11.6
10 cryptosporidiosis 11.6
11 ifap syndrome with or without bresheck syndrome 11.4
12 fetal akinesia deformation sequence 11.3
13 mcdonough syndrome 11.0
14 persistent mullerian duct syndrome 11.0
15 testicular microlithiasis 11.0
16 noonan syndrome 10 10.8
17 noonan syndrome 1 10.8
18 noonan syndrome 9 10.8
19 carpenter syndrome 2 10.8
20 singh chhaparwal dhanda syndrome 10.7
21 van benthem-driessen-hanveld syndrome 10.7
22 arroyo garcia cimadevilla syndrome 10.7
23 mental retardation, autosomal dominant 17 10.7
24 caudal appendage deafness 10.7
25 duker weiss siber syndrome 10.7
26 pacs1-related syndrome 10.7
27 noonan syndrome 7 10.6
28 syndromic x-linked intellectual disability siderius type 10.6
29 prune belly syndome 10.6
30 46,xx testicular disorder of sex development 10.6
31 nablus mask-like facial syndrome 10.6
32 spinal muscular atrophy, x-linked 2, infantile 10.6
33 noonan syndrome 6 10.6
34 mental retardation, x-linked, syndromic, claes-jensen type 10.6
35 ohdo syndrome, x-linked 10.6
36 recombinant 8 syndrome 10.6
37 noonan syndrome 8 10.6
38 bowen-conradi syndrome 10.6
39 escobar syndrome 10.6
40 noonan syndrome 3 10.6
41 chromosome 7q11.23 duplication syndrome 10.6
42 noonan syndrome 4 10.6
43 proud syndrome 10.6
44 filippi syndrome 10.6
45 omodysplasia 1 10.6
46 arhinia, choanal atresia, and microphthalmia 10.6
47 noonan syndrome 5 10.6
48 koolen-de vries syndrome 10.6
49 myhre syndrome 10.6
50 pituitary stalk interruption syndrome 10.6

Graphical network of the top 20 diseases related to Cryptorchidism:



Diseases related to Cryptorchidism

Symptoms & Phenotypes for Cryptorchidism

Symptoms by clinical synopsis from OMIM:

219050

Clinical features from OMIM:

219050

Human phenotypes related to Cryptorchidism:

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

UMLS symptoms related to Cryptorchidism:


fever, pruritus

MGI Mouse Phenotypes related to Cryptorchidism:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10 AMH AR CGA ESR1 FGFR1 GNRH1
2 growth/size/body region MP:0005378 9.9 SOS1 ALPPL2 AR CGA ESR1 FGFR1
3 nervous system MP:0003631 9.65 AR CGA ESR1 FGFR1 GNRH1 HOXA10
4 reproductive system MP:0005389 9.36 ESR1 FGFR1 GNRH1 HOXA10 INSL3 NR5A1

Drugs & Therapeutics for Cryptorchidism

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

(show top 50) (show all 62)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sevoflurane Approved, Vet_approved Phase 4,Phase 2 28523-86-6 5206
2
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
3 Anesthetics Phase 4,Phase 2
4 Anesthetics, General Phase 4,Phase 2
5 Anesthetics, Intravenous Phase 4
6 Hypnotics and Sedatives Phase 4,Phase 2
7 Central Nervous System Depressants Phase 4,Phase 2
8
Dexmedetomidine Approved, Vet_approved Phase 2 76631-46-4, 113775-47-6 68602 5311068 56032
9
Bupivacaine Approved, Investigational Phase 2 2180-92-9, 38396-39-3 2474
10
Benzocaine Approved Phase 2 1994-09-7, 94-09-7 2337
11
Levobupivacaine Approved Phase 2 27262-47-1 92253
12 tannic acid Approved, Nutraceutical Phase 2
13 Analgesics Phase 2
14 Adrenergic Agents Phase 2
15 Narcotics Phase 2
16 Adrenergic Agonists Phase 2
17 Adrenergic alpha-2 Receptor Agonists Phase 2
18 Adrenergic alpha-Agonists Phase 2
19 Neurotransmitter Agents Phase 2
20 Analgesics, Non-Narcotic Phase 2
21 Anesthetics, Inhalation Phase 2
22 Peripheral Nervous System Agents Phase 2
23 Anesthetics, Local Phase 2
24 Platelet Aggregation Inhibitors Phase 2
25
Dexamethasone Approved, Investigational, Vet_approved 50-02-2 5743
26
Ropivacaine Approved 84057-95-4 71273 175805
27
Morphine Approved, Investigational 57-27-2 5288826
28
Acetaminophen Approved 103-90-2 1983
29
Ondansetron Approved 99614-02-5 4595
30
Remifentanil Approved 132875-61-7 60815
31
Ketorolac Approved 74103-06-3, 66635-83-4 3826
32 Hormone Antagonists
33 Androgens
34 Hormones
35 Hormones, Hormone Substitutes, and Hormone Antagonists
36 Estrogens
37 Dexamethasone acetate 1177-87-3
38 glucocorticoids
39
protease inhibitors
40 Gastrointestinal Agents
41 HIV Protease Inhibitors
42 Dexamethasone 21-phosphate
43 Antiemetics
44 Anti-Inflammatory Agents
45 BB 1101
46 Autonomic Agents
47 Antineoplastic Agents, Hormonal
48
Serotonin 50-67-9 5202
49 Serotonin Agents
50 Serotonin Antagonists

Interventional clinical trials:

(show all 22)
id Name Status NCT ID Phase
1 The Effect of Induction Technique on Postoperative Pain and Agitation Completed NCT02110745 Phase 4
2 Comparing Oxygen Saturation in Post Anesthesia Care Unit After Different Methods of Pain Relief Completed NCT00435383 Phase 2
3 Caudal Versus Intravenous Dexmedetomidine for Supplementation of Caudal Analgesia in Children Completed NCT01701778 Phase 2
4 The Incidence of Congenital Undescended Testis Among Dutch Infants Unknown status NCT00264121
5 Odense Androgen Study: Study of Androgens, Body Composition, and Muscle Function in Danish Men Unknown status NCT00150163
6 Cryptorchidism: Impact of in Utero Exposure to Xenobiotics With Hormonal Action Completed NCT00565513
7 A Novel Technique of Circumcision Incision Orchidopexy Completed NCT02249637
8 Long-Term Outcome in Congenital Undescended Testis After Surgical Treatment by Orchidopexy Completed NCT00253253
9 Comparison of Dexamethasone Added to Ropivacaine and Ropivacaine Alone in Caudal Analgesia in Children Undergoing Orchiopexy Completed NCT01604915
10 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
11 Visual Guidelines and Tutoring in Pediatric Urological Surgery Completed NCT02040389
12 The Caudal Space in Children: Ultrasound Evaluation Completed NCT01896076
13 A Case-Control Study of Testicular Germ Cell Tumors Among U.S. Military Servicemen Completed NCT00341588
14 Genetics of Familial Testicular Cancer Completed NCT00342537
15 Orchidopexy Randomized Clinical Assessment Recruiting NCT02235623
16 Expertise-Based Randomized Controlled Trial of Scrotal Versus Inguinal Orchidopexy on Post-operative Pain Recruiting NCT02158780
17 Evaluating Pain Outcomes of Caudal vs Ilioinguinal Nerve Block in Children Undergoing Orchiopexy Repair Recruiting NCT03041935
18 Impact of Exposure to Environmental Pollutants on Birth Outcomes in an Israeli Cohort Recruiting NCT03084445
19 DNA Analysis in Samples From Younger Patients With Germ Cell Tumors and Their Parents or Siblings Recruiting NCT01434355
20 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
21 Comparison Between the Clinical Assessment of the Undescended Testis and Its' Ultrasonographic Size Not yet recruiting NCT02731989
22 One Stage vs. Two Stage Gubernaculum Sparing Laparoscopic Orchidopexy (GSLO) Not yet recruiting NCT02936024

Search NIH Clinical Center for Cryptorchidism

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cochrane evidence based reviews: cryptorchidism

Genetic Tests for Cryptorchidism

Genetic tests related to Cryptorchidism:

id Genetic test Affiliating Genes
1 Cryptorchidism, Unilateral or Bilateral 29
2 Cryptorchidism 29

Anatomical Context for Cryptorchidism

MalaCards organs/tissues related to Cryptorchidism:

39
Testis, Testes, Pituitary, Breast, Placenta, Heart, Prostate

Publications for Cryptorchidism

Articles related to Cryptorchidism:

(show top 50) (show all 706)
id Title Authors Year
1
Scrotal testis size in unilateral non-palpable cryptorchidism, what it can and cannot tell: Study of a Middle Eastern population. ( 28254240 )
2017
2
Cryptorchidism: A practical review for all community healthcare providers. ( 28265313 )
2017
3
Genetic analysis of HOXA11 gene in Chinese patients with cryptorchidism. ( 28261830 )
2017
4
Single nucleotide polymorphisms associated with nonsyndromic cryptorchidism in Mexican patients. ( 28295519 )
2017
5
A population-based study of prevalence trends and geospatial analysis of hypospadias and cryptorchidism compared with non-endocrine mediated congenital anomalies. ( 28351651 )
2017
6
Analgesia use during pregnancy and risk of cryptorchidism: a systematic review and meta-analysis. ( 28333256 )
2017
7
An inguinal hernia with cryptorchidism with a Leydig cell tumor in an elderly man: A case report. ( 28171846 )
2017
8
Pediatric urologists must advocate for improved quality of care in patients with cryptorchidism. ( 28265314 )
2017
9
Health Disparities in the Appropriate Management of Cryptorchidism. ( 28408128 )
2017
10
Commentary to 'Prospective study of histological and endocrine parameters of gonadal function in boys with cryptorchidism'. ( 27346070 )
2016
11
Bisphenol A and other phenols in human placenta from children with cryptorchidism or hypospadias. ( 26602963 )
2016
12
Mutational screening of the INSL3 gene in azoospermic males with a history of cryptorchidism. ( 26840636 )
2016
13
Influence of naturally unilateral cryptorchidism on the histomorphometry of the testes and daily sperm production in West African Dwarf goats. ( 27656223 )
2016
14
Opinion: Comment on Evaluation and Treatment of Cryptorchidism: AUA/AAP and Nordic Consensus Guidelines. ( 26824668 )
2016
15
A systematic review and meta-analysis of comparative studies assessing the efficacy of luteinizing hormone-releasing hormone therapy for children with cryptorchidism. ( 26898822 )
2016
16
Gene Expression Changes Underlying Idiopathic Central Hypogonadism in Cryptorchidism with Defective Mini-Puberty. ( 27561106 )
2016
17
Establishment of a surgically induced cryptorchidism canine recipient model for spermatogonial stem cell transplantation. ( 28053620 )
2016
18
Proximally Directed Double-looped Epididymis and Vas Deferens Simulating Vas Duplication: The Importance of Precise Definition of Abnormal Ductal Anatomy in Cryptorchidism. ( 27397099 )
2016
19
Molecular mechanisms of cryptorchidism development: update of the database, disease comorbidity, and initiative for standardization of reporting in scientific literature. ( 27370962 )
2016
20
Environmental chemicals impact dog semen quality in vitro and may be associated with a temporal decline in sperm motility and increased cryptorchidism. ( 27503122 )
2016
21
Genomic copy number variation association study in Caucasian patients with nonsyndromic cryptorchidism. ( 27769252 )
2016
22
Mixed Germ Cell Tumour in an Infertile Male Having Unilateral Cryptorchidism: A Rare Case Report. ( 27042527 )
2016
23
Gonadal response after a single-dose stimulation test with recombinant human chorionic gonadotropin (rhCG) in patients with isolated prepubertal cryptorchidism. ( 27800162 )
2016
24
Cryptorchidism and pesticides: Is there a connection? ( 27956069 )
2016
25
Sertoli cell tumor arising in a cryptorchid testis presenting as a content of inguinal hernial sac. ( 27510681 )
2016
26
Genetic, Maternal, and Environmental Risk Factors for Cryptorchidism: An Update. ( 27642851 )
2016
27
Cryptorchidism: An Update. ( 27723902 )
2016
28
Response to commentary to 'Prospective study of histological and endocrine parameters of gonadal function in boys with cryptorchidism'. ( 27321558 )
2016
29
Long-Term Follow-Up after Treatment of Cryptorchidism. ( 27589079 )
2016
30
Idiopathic abdominal cocoon syndrome with unilateral abdominal cryptorchidism and greater omentum hypoplasia in a young case of small bowel obstruction. ( 27239122 )
2016
31
Pantaloon Hernia: Obstructed Indirect Component and Direct Component with Cryptorchidism. ( 27579208 )
2016
32
A allele of SNP12 in estrogen receptor 1 was a risk factor for cryptorchidism in Asians: a systematic review with meta-analysis and trial sequential analysis. ( 27376826 )
2016
33
Consequences of bilateral cryptorchidism in adults. ( 26762811 )
2016
34
Re: Hormonal Therapy Using Gonadotropin Releasing Hormone for Improvement of Fertility Index among Children with Cryptorchidism: AA Meta-Analysis and Systematic Review. ( 27628840 )
2016
35
Genetic Association Between IL-21 Polymorphisms and Cryptorchidism in a Chinese Han Population. ( 26990619 )
2016
36
Feasibility and Efficacy of a Urologic Profession Campaign on Cryptorchidism Using Internet and Social Media. ( 27806367 )
2016
37
Bilateral Cryptorchidism, a rare presentation for persistent MA1llerian duct syndrome. ( 28163853 )
2016
38
A Rare Association of Obesity, Diabetes Mellitus and Bilateral Cryptorchidism: Prader - Willi Syndrome. ( 27805351 )
2016
39
Post-fertilization effect of bilateral primary testicular damage induced by unilateral cryptorchidism in the rat model. ( 26757429 )
2016
40
Leydig cell clustering and Reinke crystal distribution in relation to hormonal function in adult patients with testicular dysgenesis syndrome (TDS) including cryptorchidism. ( 28222406 )
2016
41
Acquired cryptorchidism: More harm than thought? ( 27318547 )
2016
42
The Effectiveness of hCG and LHRH in Boys with Cryptorchidism: A Meta-Analysis of Randomized Controlled Trials. ( 27050251 )
2016
43
The Sertoli cell hormones inhibin-B and anti MA1llerian hormone have different patterns of secretion in prepubertal cryptorchid boys. ( 26452703 )
2016
44
Prospective study of histological and endocrine parameters of gonadal function in boys with cryptorchidism. ( 27321556 )
2016
45
Association between two single nucleotide polymorphisms of interleukin-27 gene and increased cryptorchidism risk. ( 25988814 )
2016
46
Mutational analysis of HOXA10 gene in Chinese patients with cryptorchidism. ( 27108669 )
2016
47
Hormonal Aspects of the Pathogenesis and Treatment of Cryptorchidism. ( 27642852 )
2016
48
A Case of Cryptorchidism with Ipsilateral Congenital Unilateral Absence of the Vas Deferens and Contralateral Renal Agenesis. ( 27597925 )
2016
49
Corrigendum: Environmental chemicals impact dog semen quality in vitro and may be associated with a temporal decline in sperm motility and increased cryptorchidism. ( 27633184 )
2016
50
Positive Oct -3/4 and D2-40 Immunohistochemical Expression in Germ Cells and Suspected Histology Pattern of Intratubular Germ Cell Neoplasia in Boys with Cryptorchidism Vanish after the Age of 2 Years. ( 27606906 )
2016

Variations for Cryptorchidism

UniProtKB/Swiss-Prot genetic disease variations for Cryptorchidism:

66
id 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 rs28939382

ClinVar genetic disease variations for Cryptorchidism:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 INSL3 NM_005543.3(INSL3): c.330C> G (p.Asn110Lys) single nucleotide variant Pathogenic rs121912555 GRCh37 Chromosome 19, 17927729: 17927729
2 INSL3 NM_005543.3(INSL3): c.278C> T (p.Pro93Leu) single nucleotide variant Pathogenic rs104894697 GRCh37 Chromosome 19, 17927781: 17927781
3 INSL3 NM_005543.3(INSL3): c.304C> T (p.Arg102Cys) single nucleotide variant Pathogenic rs104894698 GRCh37 Chromosome 19, 17927755: 17927755
4 INSL3 NM_005543.3(INSL3): c.305G> A (p.Arg102His) single nucleotide variant Pathogenic rs121912556 GRCh37 Chromosome 19, 17927754: 17927754
5 INSL3 NM_005543.3(INSL3): c.217C> T (p.Arg73Ter) single nucleotide variant Pathogenic rs398122886 GRCh37 Chromosome 19, 17927842: 17927842

Copy number variations for Cryptorchidism from CNVD:

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

Expression for Cryptorchidism

Search GEO for disease gene expression data for Cryptorchidism.

Pathways for Cryptorchidism

GO Terms for Cryptorchidism

Cellular components related to Cryptorchidism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.28 ALPPL2 AMH CGA CGB5 FGFR1 GNRH1

Biological processes related to Cryptorchidism according to GeneCards Suite gene sharing:

(show all 13)
id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.88 AR CGA CGB5 ESR1 NR5A1
2 spermatogenesis GO:0007283 9.83 AR DAZ1 DAZ4 HOXA10 INSL3
3 regulation of gene expression GO:0010468 9.67 AR FGFR1 GNRH1 HOXA10
4 peptide hormone processing GO:0016486 9.52 CGA CGB5
5 mammary gland alveolus development GO:0060749 9.51 AR ESR1
6 uterus development GO:0060065 9.49 ESR1 HOXA10
7 gonad development GO:0008406 9.46 AMH CGA
8 steroid hormone mediated signaling pathway GO:0043401 9.43 AR ESR1 NR5A1
9 positive regulation of phospholipase C activity GO:0010863 9.4 ESR1 FGFR1
10 male gonad development GO:0008584 9.35 AR ESR1 HOXA10 NR5A1 RXFP2
11 intracellular receptor signaling pathway GO:0030522 9.33 AR ESR1 NR5A1
12 sex determination GO:0007530 9.32 AMH NR5A1
13 cell-cell signaling GO:0007267 9.17 AMH AR CGA CGB5 GNRH1 INSL3

Molecular functions related to Cryptorchidism according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.8 AR ESR1 HOXA10 LBX1 NR5A1
2 lipid binding GO:0008289 9.67 AR ESR1 NR5A1 SHBG
3 steroid hormone receptor activity GO:0003707 9.5 AR ESR1 NR5A1
4 RNA polymerase II transcription factor activity, ligand-activated sequence-specific DNA binding GO:0004879 9.43 AR ESR1 NR5A1
5 hormone activity GO:0005179 9.26 AMH CGA GNRH1 INSL3
6 androgen binding GO:0005497 9.16 AR SHBG
7 steroid binding GO:0005496 8.8 AR ESR1 SHBG

Sources for Cryptorchidism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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