MCID: TST025
MIFTS: 29

Testicular Microlithiasis

Categories: Reproductive diseases

Aliases & Classifications for Testicular Microlithiasis

MalaCards integrated aliases for Testicular Microlithiasis:

Name: Testicular Microlithiasis 57 29 13 39 70

Classifications:



External Ids:

OMIM® 57 610441
MedGen 41 C1864873
SNOMED-CT via HPO 68 117261000119108
UMLS 70 C1864873

Summaries for Testicular Microlithiasis

OMIM® : 57 Testicular microlithiasis, the deposition of calcium phosphate microliths within the seminiferous tubules, has a population prevalence of 0.6 to 9% (Kim et al., 2003). Middleton et al. (2002) found that it was associated with a majority of primary testicular malignancies. Miller and Sidhu (2002) found that it was present in 1% of male idiopathic infertility cases. (610441) (Updated 20-May-2021)

MalaCards based summary : Testicular Microlithiasis is related to testicular cancer and teratoma. An important gene associated with Testicular Microlithiasis is SLC34A2 (Solute Carrier Family 34 Member 2), and among its related pathways/superpathways is Direct p53 effectors. Affiliated tissues include testis, testes and spleen, and related phenotypes are testicular microlithiasis and Decreased shRNA abundance (Z-score < -2)

Wikipedia : 73 Testicular microlithiasis is an unusual condition diagnosed on testicular ultrasound. It is found in... more...

Related Diseases for Testicular Microlithiasis

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

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 testicular cancer 30.9 PTEN AFP
2 teratoma 30.2 PTEN AFP
3 pulmonary alveolar microlithiasis 29.6 SLC34A2 GALNT3
4 cryptorchidism, unilateral or bilateral 10.7
5 germ cells tumors 10.7
6 infertility 10.7
7 varicocele 10.6
8 seminoma 10.5
9 in situ carcinoma 10.5
10 testicular germ cell tumor 10.5
11 male infertility 10.5
12 testicular torsion 10.4
13 mixed germ cell tumor 10.4
14 hypogonadotropic hypogonadism 10.3
15 testicular disease 10.3
16 hydrocele 10.3
17 mccune-albright syndrome 10.3
18 endodermal sinus tumor 10.3
19 hypogonadism 10.3
20 precocious puberty 10.3
21 down syndrome 10.2
22 germ cell cancer 10.2
23 testicular yolk sac tumor 10.2
24 lipoid congenital adrenal hyperplasia 10.2
25 azoospermia 10.2
26 orchitis 10.2
27 extragonadal germ cell cancer 10.2
28 peutz-jeghers syndrome 10.1
29 pseudoxanthoma elasticum 10.1
30 gonadoblastoma 10.1
31 teratocarcinoma 10.1
32 embryonal carcinoma 10.1
33 sertoli cell tumor 10.1
34 choriocarcinoma 10.1
35 mature teratoma 10.1
36 epididymo-orchitis 10.1
37 testicular seminoma 10.1
38 thalassemia 10.1
39 epidermoid cysts 9.9
40 lentigines 9.9
41 ruvalcaba syndrome 9.9
42 tumoral calcinosis, hyperphosphatemic, familial, 1 9.9
43 adrenal hypoplasia, congenital 9.9
44 fragile x syndrome 9.9
45 ichthyosis, x-linked 9.9
46 chromosome 18q deletion syndrome 9.9
47 alpha/beta t-cell lymphopenia with gamma/delta t-cell expansion, severe cytomegalovirus infection, and autoimmunity 9.9
48 autosomal recessive disease 9.9
49 inguinal hernia 9.9
50 fibrous dysplasia 9.9

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



Diseases related to Testicular Microlithiasis

Symptoms & Phenotypes for Testicular Microlithiasis

Human phenotypes related to Testicular Microlithiasis:

31
# Description HPO Frequency HPO Source Accession
1 testicular microlithiasis 31 HP:0012215

Clinical features from OMIM®:

610441 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Testicular Microlithiasis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-13 8.96 SLC34A2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-152 8.96 PTEN
3 Reduced mammosphere formation GR00396-S 8.8 AFP GALNT3 PTEN

Drugs & Therapeutics for Testicular Microlithiasis

Search Clinical Trials , NIH Clinical Center for Testicular Microlithiasis

Genetic Tests for Testicular Microlithiasis

Genetic tests related to Testicular Microlithiasis:

# Genetic test Affiliating Genes
1 Testicular Microlithiasis 29

Anatomical Context for Testicular Microlithiasis

MalaCards organs/tissues related to Testicular Microlithiasis:

40
Testis, Testes, Spleen, Appendix, Kidney, Breast

Publications for Testicular Microlithiasis

Articles related to Testicular Microlithiasis:

(show top 50) (show all 362)
# Title Authors PMID Year
1
Increased prevalence of testicular microlithiasis in men with familial testicular cancer and their relatives. 61 57
18841155 2008
2
Testicular microlithiasis as a familial risk factor for testicular germ cell tumour. 61 57
17971766 2007
3
Mutations in SLC34A2 cause pulmonary alveolar microlithiasis and are possibly associated with testicular microlithiasis. 57 61
16960801 2006
4
Testicular microlithiasis: clinical significance and review of the literature. 57 61
14531010 2003
5
Does testicular microlithiasis matter? A review. 57 61
12413911 2002
6
Testicular microlithiasis: prospective analysis of prevalence and associated tumor. 57 61
12147838 2002
7
Clinical and seminal parameters associated with testicular microlithiasis and its severity in males from infertile couples. 61
33406236 2021
8
Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism. 61
33381670 2021
9
Mediastinal Germ Cell Tumor with Testicular Microlithiasis. 61
33614354 2021
10
Incidence characteristics of testicular microlithiasis and its association with risk of primary testicular tumors in children: a systematic review and meta-analysis. 61
31853884 2020
11
Prevalence of testicular microlithiasis in healthy newlywed men trying for first-time pregnancy. 61
32776360 2020
12
Testicular microlithiasis on scrotal ultrasound in 4850 young men from the general population: associations with semen quality. 61
32619084 2020
13
Expanded Clinical Phenotype, Oncological Associations, and Immunopathologic Insights of Paraneoplastic Kelch-like Protein-11 Encephalitis. 61
32744608 2020
14
Shear-wave elastography of the testicle: potential role of the stiffness value in various common testicular diseases. 61
32248949 2020
15
[Relationship between testicular microcalcifications and clinical characteristics in patients with testicular cancer]. 61
31383611 2020
16
Re: Adolescent Testicular Microlithiasis: A Case-Based, Multinational Survey of Clinical Management Practices. 61
32155375 2020
17
Multiparametric ultrasonographic analysis of testicular tumors: a single-center experience in a collective of 49 patients. 61
32449437 2020
18
Is testicular microlithiasis a really innocent condition? Its effects on oncological outcomes of germ cell testicular cancer: An observational study. 61
32240112 2020
19
Testicular Microlithiasis Is Associated with Impaired Spermatogenesis in Patients with Unexplained Infertility. 61
32594086 2020
20
Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role. 61
33626548 2020
21
Scrotal ultrasonographic findings in obese infertile patients and their correlations to semen and hormonal profile. 61
30183611 2019
22
Testicular microlithiasis: Systematic review and Clinical guidelines. 61
31383508 2019
23
Association between risk factors and testicular microlithiasis. 61
31588363 2019
24
Elastography and diffusion-weighted MRI in patients with testicular microlithiasis, normal testicular tissue, and testicular cancer: an observational study. 61
29969051 2019
25
Testicular Cancer in Infertile Men With and Without Testicular Microlithiasis: A Systematic Review and Meta-Analysis of Case-Control Studies. 61
30949131 2019
26
The role of ARFI elastography to evaluate microstructrual changes of patients with testicular microlithiasis. 61
29566548 2018
27
Is Testicular Macrocalcification a Risk for Malignancy?: Tumor Development on Ultrasonographic Follow-up of Preexisting Intratesticular Macrocalcification. 61
29665033 2018
28
[Testicular Microlithiasis: Update on diagnosis and management.] 61
30560797 2018
29
Genes associated with testicular germ cell tumors and testicular dysgenesis in patients with testicular microlithiasis. 61
30027931 2018
30
Re: Association between Testicular Microlithiasis and Testicular Neoplasia: Large Multicenter Study in a Pediatric Population. 61
30227564 2018
31
European Society of Paediatric Radiology Abdominal Imaging Task Force recommendations in paediatric uroradiology, part X: how to perform paediatric gastrointestinal ultrasonography, use gadolinium as a contrast agent in children, follow up paediatric testicular microlithiasis, and an update on paediatric contrast-enhanced ultrasound. 61
29796794 2018
32
The role of electrocardiogram in sex verification in a young adult with primary amenorrhea: a case report. 61
30220253 2018
33
Ultrasound Evaluation of Testicular Volume in Patients with Testicular Microlithiasis. 61
30250943 2018
34
Testicular microlithiasis in a boy with X-linked adrenal hypoplasia congenita. 61
30286574 2018
35
Fertility preservation in testicular cancer - predictors of spermatogenesis. 61
29667332 2018
36
Prevalence, clinical characteristics and long-term outcomes of classical 11 β-hydroxylase deficiency (11BOHD) in Turkish population and novel mutations in CYP11B1 gene. 61
29626607 2018
37
[Pathologic features on gonadal changes of sexual developmental disorders in children]. 61
29996319 2018
38
Prevalence and risk factors of testicular microlithiasis in patients with hypospadias: a retrospective study. 61
29843681 2018
39
Shear wave elastography evaluation in pediatric testicular microlithiasis: a comparative study. 61
29075915 2018
40
Testicular microlithiasis in a clinically healthy cynomolgus monkey (Macaca fascicularis). 61
29750004 2018
41
Adolescent testicular microlithiasis: A case-based, multinational survey of clinical management practices. 61
29428360 2018
42
Testicular microlithiasis in patients with testicular cancer in the United Kingdom and in Denmark. 61
29510806 2018
43
Hyperphosphatemic Familial Tumoral Calcinosis 61
29389098 2018
44
Testicular microlithiasis and testicular tumor: a review of the literature. 61
30002831 2018
45
A case of Riley Ruvalcaba syndrome with a novel PTEN mutation accompanied by diffuse testicular microlithiasis and precocious puberty. 61
29194042 2018
46
Testicular microlithiasis: what urologists should know. A review of the current literature. 61
30386652 2018
47
Prevalence and Chronological Changes of Testicular Microlithiasis in Isolated Congenital Undescended Testes Operated On at Less Than 3 Years of Age. 61
28780301 2017
48
Association between Testicular Microlithiasis and Testicular Neoplasia: Large Multicenter Study in a Pediatric Population. 61
28715257 2017
49
Role of calcifying nanoparticles in the development of testicular microlithiasis in vivo. 61
29084530 2017
50
The influence of testicular microlithiasis on the outcomes of in vitro fertilisation in a Chinese Han population. 61
27882628 2017

Variations for Testicular Microlithiasis

Expression for Testicular Microlithiasis

Search GEO for disease gene expression data for Testicular Microlithiasis.

Pathways for Testicular Microlithiasis

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

# Super pathways Score Top Affiliating Genes
1 10.74 PTEN AFP

GO Terms for Testicular Microlithiasis

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

# Name GO ID Score Top Affiliating Genes
1 cellular protein metabolic process GO:0044267 8.62 SLC34A2 AFP

Sources for Testicular Microlithiasis

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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