MCID: TST015
MIFTS: 42

Testicular Disease

Categories: Endocrine diseases, Reproductive diseases
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Aliases & Classifications for Testicular Disease

MalaCards integrated aliases for Testicular Disease:

Name: Testicular Disease 11 14 16 75
Testicular Dysfunction 53 71 31
Testicular Diseases 53 43 71
Disorder of Testis 11 5
Testicular Disorders 41
Testis Disorder 11

Classifications:



External Ids:

Disease Ontology 11 DOID:2519
MeSH 43 D013733
NCIt 49 C26890
SNOMED-CT 68 236763001
ICD10 31 E29 E29.9
UMLS 71 C0039584 C0405581

Summaries for Testicular Disease

MedlinePlus: 41 Testicles, or testes, make male hormones and sperm. They are two egg-shaped organs inside the scrotum, the loose sac of skin behind the penis. It's easy to injure your testicles because they are not protected by bones or muscles. Men and boys should wear athletic supporters when they play sports. You should examine your testicles monthly and seek medical attention for lumps, redness, pain or other changes. Testicles can get inflamed or infected. They can also develop cancer. Testicular cancer is rare and highly treatable. It usually happens between the ages of 15 and 40.

MalaCards based summary: Testicular Disease, also known as testicular dysfunction, is related to 17-beta hydroxysteroid dehydrogenase iii deficiency and spermatogenic failure, x-linked, 1, and has symptoms including pelvic pain An important gene associated with Testicular Disease is AMHR2 (Anti-Mullerian Hormone Receptor Type 2), and among its related pathways/superpathways are miRNAs involved in DNA damage response and Mammalian disorder of sexual development. The drugs Avelumab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include testis, testes and skin, and related phenotypes are neoplasm and endocrine/exocrine gland

Related Diseases for Testicular Disease

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

(show top 50) (show all 343)
# Related Disease Score Top Affiliating Genes
1 17-beta hydroxysteroid dehydrogenase iii deficiency 30.9 GNRH1 AR AMH
2 spermatogenic failure, x-linked, 1 30.7 MIR202 EPPIN DMRT1 AMH
3 hypogonadotropic hypogonadism 30.6 INSL3 GNRH1 DMRT1 AR AMHR2 AMH
4 testicular torsion 30.4 INSL3 EPPIN AMH AFP
5 leydig cell tumor 30.4 TP53 KIT INSL3 GNRH1 AFP
6 androgen insensitivity syndrome 30.4 INSL3 EPPIN DMRT1 AR AMH
7 germ cell tumor 30.3 KIT DMRT1
8 hydrocele 30.3 MIR371A EPPIN AFP
9 kallmann syndrome 30.2 INSL3 GNRH1 EPPIN AMHR2 AMH
10 testicular germ cell tumor 30.2 MIR372 MIR371A KIT
11 androgen insensitivity, partial 30.2 INSL3 EPPIN AR AMH
12 cystic teratoma 30.2 TP53 AMH AFP
13 penis agenesis 30.2 GNRH1 AR
14 physical disorder 30.2 TP53 MIR199A1 H2AC18 ERCC6 AFP
15 embryonal carcinoma 30.2 TP53 POU5F1 KIT AFP
16 benign teratoma 30.2 TP53 AMH AFP
17 varicocele 30.2 TP53 GNRH1 AR AMH
18 oligospermia 30.2 KIT GNRH1 EPPIN AR AMH
19 infertility 30.2 INSL3 GNRH1 EPPIN AR AMH
20 turner syndrome 30.1 POU5F1 AR AMH
21 mature teratoma 30.1 TP53 POU5F1 MIR371A KIT H2AC18 AFP
22 seminoma 30.1 TP53 POU5F1 KIT DMRT1 AFP
23 pseudohermaphroditism 30.1 INSL3 GNRH1 EPPIN DMRT1 AR AMHR2
24 inguinal hernia 30.0 KIT INSL3 GNRH1 DMRT1 AR AMHR2
25 azoospermia 30.0 KIT INSL3 GNRH1 EPPIN AR AMH
26 teratoma 30.0 TP53 POU5F1 MIR371A KIT DMRT1 AMH
27 male infertility 29.8 MIR513A1 MIR202 KIT INSL3 H2AC18 GNRH1
28 premature menopause 29.8 TP53 POU5F1 KIT INSL3 GNRH1 ERCC6
29 cryptorchidism, unilateral or bilateral 29.7 POU5F1 KIT INSL3 IGFL3 GNRH1 ERCC6
30 testicular cancer 29.3 TP53 POU5F1 PNMA2 MIR513A1 MIR372 MIR371A
31 46,xx sex reversal 1 11.1
32 46,xx sex reversal 11.1
33 nonsyndromic 46,xx testicular disorders/differences of sex development 11.1
34 mediastinum seminoma 10.5 KIT AFP
35 hermaphroditism 10.5 DMRT1 AMHR2 AMH
36 bladder leiomyoma 10.5 KIT GNRH1
37 prostate leiomyoma 10.5 GNRH1 AR
38 dysgerminoma 10.5 MIR371A KIT AFP
39 ovarian carcinosarcoma 10.5 TP53 MIR371A H2AC18
40 childhood endodermal sinus tumor 10.5 MIR371A AFP
41 adenosquamous breast carcinoma 10.5 TP53 AR
42 luteoma 10.5 EPPIN AMHR2 AMH
43 persistent mullerian duct syndrome, types i and ii 10.5 AMHR2 AMH
44 childhood testicular germ cell tumor 10.5 POU5F1 AFP
45 malignant gastric teratoma 10.5 KIT AFP
46 childhood germ cell cancer 10.5 MIR371A DMRT1 AFP
47 pineal region teratoma 10.5 KIT AFP
48 subserous uterine fibroid 10.5 AMH AFP
49 extragonadal seminoma 10.5 KIT AFP
50 blastoma 10.5 TP53 KIT AFP

Graphical network of the top 20 diseases related to Testicular Disease:



Diseases related to Testicular Disease

Symptoms & Phenotypes for Testicular Disease

UMLS symptoms related to Testicular Disease:


pelvic pain

MGI Mouse Phenotypes related to Testicular Disease:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.76 AFP AMH AMHR2 AR ERCC6 GNRH1
2 endocrine/exocrine gland MP:0005379 9.7 AFP AMH AMHR2 AR DMRT1 EPPIN
3 reproductive system MP:0005389 9.36 AFP AMH AMHR2 AR DMRT1 EPPIN

Drugs & Therapeutics for Testicular Disease

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Avelumab Approved, Investigational Phase 2 1537032-82-8
2 Antineoplastic Agents, Immunological Phase 2
3
Lidocaine Approved, Vet_approved 137-58-6 3676
4 Anesthetics
5 Hypnotics and Sedatives
6 Anti-Anxiety Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Phase II Study of Avelumab in Multiple Relapsed/Refractory Testicular Germ Cell Cancer. Completed NCT03403777 Phase 2 Avelumab
2 Up-positioning of the Testes as Supportive Therapy in Patients With Acute Orchitis - a Randomized Controlled Trial Unknown status NCT02665182
3 Evaluation of the Impact of Open or Laparoscopic Preperitoneal Inguinal Hernia Repair on Arterial and Venous Testicular Vascularization by Means of Ecocolordoppler Ultrasound Examination Unknown status NCT03056027
4 Enhancing Men's Awareness of Testicular Diseases (E-MAT): A Feasibility Trial Completed NCT05146466
5 Human Sperm Zona Acceptor: Environmental Effects Completed NCT00012480
6 Anti-1-amino-3-18F-flurocyclobutane-1-carboxylic Acid (Axumin) Positron Emission Tomography/Computed Tomography Prior to Retroperitoneal Lymph Node Dissection for Testicular Cancer Active, not recruiting NCT03426865 Axumin PET scan
7 Evaluating Patient Tolerability and Success for Penile and Scrotal Urologic Procedures Under Conscious Sedation: A Prospective Study Enrolling by invitation NCT05617261
8 Evaluation of the Use of a Virtual Reality Mask During Blood Tests and Prick Tests Performed in Allergic Children Aged 7 to 13 Years: a Multicenter, Randomized Trial Not yet recruiting NCT05378581

Search NIH Clinical Center for Testicular Disease

Cochrane evidence based reviews: testicular diseases

Genetic Tests for Testicular Disease

Anatomical Context for Testicular Disease

Organs/tissues related to Testicular Disease:

MalaCards : Testis, Testes, Skin, Lymph Node, Pituitary, Breast, Spinal Cord

Publications for Testicular Disease

Articles related to Testicular Disease:

(show top 50) (show all 926)
# Title Authors PMID Year
1
Impact of chitosan administration on titanium dioxide nanoparticles induced testicular dysfunction. 62 41
36385626 2022
2
Zhibai Dihuang Pill Alleviates Ureaplasma urealyticum-Induced Spermatogenic Failure and Testicular Dysfunction via MAPK Signaling Pathway. 62 41
35242210 2022
3
Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD). 5
30668521 2019
4
The Persistent Müllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases. 5
28528332 2017
5
Natural mutations of the anti-Mullerian hormone type II receptor found in persistent Mullerian duct syndrome affect ligand binding, signal transduction and cellular transport. 5
19457927 2009
6
Dimethyl Sulfoxide Attenuates Radiation-Induced Testicular Injury through Facilitating DNA Double-Strand Break Repair. 41
35770047 2022
7
Baseline follicle-stimulating hormone is a strong predictor for the outcome of the gonadotrophin-releasing hormone test in young men with unilateral medium- or high-grade varicocele. 53 62
16925763 2006
8
Insulin-like factor 3 serum levels in 135 normal men and 85 men with testicular disorders: relationship to the luteinizing hormone-testosterone axis. 53 62
15755855 2005
9
Basal inhibin B and the testosterone response to human chorionic gonadotropin correlate in prepubertal boys. 53 62
10634376 2000
10
Pituitary-testis axis dysfunction following adjuvant androgen deprivation therapy. 62
36356295 2023
11
Phthalate toxicity mechanisms: An update. 62
36374650 2023
12
Topiramate Reprofiling for the Attenuation of Cadmium-Induced Testicular Impairment in Rats: Role of NLRP3 Inflammasome and AMPK/mTOR-Linked Autophagy. 62
36422532 2022
13
The adverse reactions of anabolic steroid abuse. 62
36426813 2022
14
Genome-wide alternation and effect of DNA methylation in the impairments of steroidogenesis and spermatogenesis after PM2.5 exposure. 62
36174482 2022
15
Coenzyme Q10 alleviates testicular endocrine and spermatogenic dysfunction induced by high-fat diet in male Wistar rats: Role of adipokines, oxidative stress and MAPK/ERK/JNK pathway. 62
35899326 2022
16
The murine male reproductive organ at a glance: Three-dimensional insights and virtual histology using label-free light sheet microcopy. 62
36082398 2022
17
Botanicals in health and disease of the testis and male fertility: A scoping review. 62
36049429 2022
18
Inflammatory Modulation of miR-155 Inhibits Doxorubicin-Induced Testicular Dysfunction via SIRT1/FOXO1 Pathway: Insight into the Role of Acacetin and Bacillus cereus Protease. 62
35715546 2022
19
[Lymphomas and other hematological neoplasms in the testicles]. 62
36149452 2022
20
The effect of Fumaria parviflora on the expression of sexual hormones along with their receptors in testicles of adult rats induced by varicocele. 62
35753722 2022
21
Quercetin Abates Aluminum Trioxide Nanoparticles and Lead Acetate Induced Altered Sperm Quality, Testicular Oxidative Damage, and Sexual Hormones Disruption in Male Rats. 62
36358505 2022
22
Advances in the ultrasound diagnosis in equine reproductive medicine: New approaches. 62
35748405 2022
23
AUTOPSY STUDY OF TESTICLES IN COVID-19: UPREGULATION OF IMMUNE-RELATED GENES AND DOWNREGULATION OF TESTIS-SPECIFIC GENES. 62
36260523 2022
24
Pathologic findings and clinical outcomes in patients who required neoadjuvant chemotherapy before orchiectomy for testicular germ cell tumors. 62
35817140 2022
25
Linagliptin and Vitamin D3 Synergistically Rescue Testicular Steroidogenesis and Spermatogenesis in Cisplatin-Exposed Rats: The Crosstalk of Endoplasmic Reticulum Stress with NF-κB/iNOS Activation. 62
36364125 2022
26
Long-term exposure to cimetidine induced gonado-toxicity in male rats: Modulating role of Ocimum gratissimum. 62
35101366 2022
27
Exploring Nrf2 as a therapeutic target in testicular dysfunction. 62
35788899 2022
28
Paullinia cupana seed extract ameliorated methotrexate-induced testicular dysfunction through the regulation of antioxidants, inflammatory, apoptosis/anti-apoptosis, and steroidogenesis-associated genes. 62
36168017 2022
29
Cabbage (Brassica oleracea) mitigates lead (II) acetate-induced testicular dysfunction in Wistar rats via up-regulation of Bcl-2 protein expression, pituitary-testicular hormonal axis and down-regulation of oxido-inflammatory reactions. 62
35598098 2022
30
Effect of ozone versus naringin on testicular injury in experimentally induced ulcerative colitis in adult male albino rats. 62
36221187 2022
31
Treatment of congenital hypogonadotropic hypogonadism in male patients. 62
36203268 2022
32
[Genetic analysis and pathological features of one 46,XX testicular disorder of sex development cases with prostate germ cell tumor]. 62
36082576 2022
33
Risk factors on testicular function in adolescents. 62
35286610 2022
34
Microsurgical varicocelectomy for intratesticular varicocele with a history of orchiopexy for undescended testis. 62
36090928 2022
35
Low-dose rapamycin prevents Ang-II-induced toxicity in Leydig cells and testicular dysfunction in hypertensive SHR model. 62
35698875 2022
36
Pharmacological action of quercetin against testicular dysfunction: A mini review. 62
35850969 2022
37
A gain-of-function mutation in the ITPR1 gating domain causes male infertility in mice. 62
35621185 2022
38
Klinefelter syndrome: going beyond the diagnosis. 62
35948402 2022
39
Integrity of hypothalamic-pituitary-testicular axis in exceptional longevity. 62
35770332 2022
40
Testicular toxicity of bisphenol compounds: Homeostasis disruption of cholesterol/testosterone via PPARα activation. 62
35504394 2022
41
Repositioning Linagliptin for the Mitigation of Cadmium-Induced Testicular Dysfunction in Rats: Targeting HMGB1/TLR4/NLRP3 Axis and Autophagy. 62
35890148 2022
42
Melatonin supplementation preserves testicular function by attenuating lactate production and oxidative stress in high fat diet-induced obese rat model. 62
35500423 2022
43
Endocrine outcome and seminal parameters in young adult men born with hypospadias: A cross-sectional cohort study. 62
35759917 2022
44
Hyperoside, a natural flavonoid compound, attenuates Triptolide-induced testicular damage by activating the Keap1-Nrf2 and SIRT1-PGC1α signalling pathway. 62
35325199 2022
45
Role of PPAR-γ in diabetes-induced testicular dysfunction, oxidative DNA damage and repair in leptin receptor-deficient obese type 2 diabetic mice. 62
35472412 2022
46
Role of JNK, TGF-β1, Akt, IL-1β and INSL-3 in proanthocyanidin protection against apoptosis in diabetic rat testis. 62
34789048 2022
47
The protective effects and underlying mechanisms of dapagliflozin on diabetes-induced testicular dysfunction. 62
35848706 2022
48
Rifaximin Protects against Malathion-Induced Rat Testicular Toxicity: A Possible Clue on Modulating Gut Microbiome and Inhibition of Oxidative Stress by Mitophagy. 62
35807317 2022
49
Studies on testicular ultrastructural and hormonal changes in type-2 diabetic rats treated with highly active antiretroviral therapy conjugated silver nanoparticles. 62
35341824 2022
50
LIN28 Family in Testis: Control of Cell Renewal, Maturation, Fertility and Aging. 62
35806250 2022

Variations for Testicular Disease

ClinVar genetic disease variations for Testicular Disease:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AMHR2 NM_020547.3(AMHR2):c.649del (p.Val217fs) DEL Pathogenic
1172834 GRCh37: 12:53819499-53819499
GRCh38: 12:53425715-53425715
2 AMHR2 NM_020547.3(AMHR2):c.1483C>T (p.Arg495Trp) SNV Likely Pathogenic
1172835 GRCh37: 12:53825018-53825018
GRCh38: 12:53431234-53431234

Copy number variations for Testicular Disease from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 266734 Y 1 27200000 Chromosomal abnormalities Testicular failure
2 267190 Y 25400000 27200000 Deletion AZF1 Testicular failure
3 267191 Y 25400000 27200000 Deletion Testicular failure
4 267192 Y 25400000 27200000 Deletion Testicular failure

Expression for Testicular Disease

Search GEO for disease gene expression data for Testicular Disease.

Pathways for Testicular Disease

Pathways related to Testicular Disease according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.96 TP53 MIR372 MIR371A
2
Show member pathways
10.61 INSL3 DMRT1 AMHR2 AMH
3 10.11 AMHR2 AMH

GO Terms for Testicular Disease

Biological processes related to Testicular Disease according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.91 TP53 POU5F1 KIT ERCC6 AR AMH
2 Mullerian duct regression GO:0001880 9.46 AMHR2 AMH
3 sex differentiation GO:0007548 9.43 DMRT1 AMHR2 AMH
4 male gonad development GO:0008584 9.28 KIT INSL3 DMRT1 AR AMHR2

Sources for Testicular Disease

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