MCID: ANR018
MIFTS: 36

Anorchia

Categories: Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Anorchia

MalaCards integrated aliases for Anorchia:

Name: Anorchia 53
Testicular Agenesis 53 59
Bilateral Anorchia 53 59
Congenital Absence of Testes 53
Absence of Testes 53
Absent Testicle 72
Empty Scrotum 53

Classifications:



External Ids:

ICD10 via Orphanet 34 Q55.0
Orphanet 59 ORPHA325124
UMLS 72 C0405582

Summaries for Anorchia

MalaCards based summary : Anorchia, also known as testicular agenesis, is related to gonadal dysgenesis and pseudohermaphroditism. An important gene associated with Anorchia is SRY (Sex Determining Region Y), and among its related pathways/superpathways are G alpha (s) signalling events and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. The drugs Oxandrolone and Hormones have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and uterus, and related phenotypes are increased circulating gonadotropin level and decreased serum testosterone level

Wikipedia : 75 Not to be confused with anarchy or... more...

Related Diseases for Anorchia

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

(show top 50) (show all 51)
# Related Disease Score Top Affiliating Genes
1 gonadal dysgenesis 30.5 SRY NR5A1
2 pseudohermaphroditism 30.4 SRY NR5A1
3 46 xy gonadal dysgenesis 30.2 SRY NR5A1
4 cryptorchidism, unilateral or bilateral 27.7 SRY RXFP2 NR5A1 INSL3 CGB5 CGA
5 testicular regression syndrome 11.6
6 pseudovaginal perineoscrotal hypospadias 10.5
7 hypogonadism 10.5
8 hypogonadotropism 10.5
9 hermaphroditism 10.2 SRY CGA
10 testicular torsion 10.2
11 hypogonadotropic hypogonadism 10.2
12 complete androgen insensitivity syndrome 10.2 SRY CGA
13 gynecomastia 10.2 SRY CGA
14 hydatidiform mole, recurrent, 1 10.1 CGB5 CGA
15 46,xy partial gonadal dysgenesis 10.1 SRY NR5A1
16 neurofibromatosis, type ii 10.1
17 hypogonadotropic hypogonadism 7 with or without anosmia 10.1
18 septooptic dysplasia 10.1
19 testes, rudimentary 10.1
20 chronic pyelonephritis 10.1
21 pyelonephritis 10.1
22 orchitis 10.1
23 isolated gonadotropin-releasing hormone deficiency 10.1
24 46,xx sex reversal 1 10.1 SRY NR5A1
25 ectopic pregnancy 10.1 CGB5 CGA
26 placenta disease 10.0 CGB5 CGA
27 frasier syndrome 10.0 SRY NR5A1
28 alternating hemiplegia of childhood 10.0 SRY NR5A1
29 leydig cell tumor 10.0 NR5A1 INSL3
30 inguinal hernia 9.9
31 amenorrhea 9.9 SRY NR5A1
32 seminoma 9.9 CGB5 CGA
33 lipoid congenital adrenal hyperplasia 9.9 SRY NR5A1
34 darier-white disease 9.8
35 hashimoto thyroiditis 9.8
36 goiter 9.8
37 hypothyroidism 9.8
38 thyroiditis 9.8
39 47,xyy 9.8
40 gonadal disease 9.8 SRY NR5A1
41 testicular disease 9.8 RXFP2 INSL3
42 choriocarcinoma 9.7 CGB5 CGA
43 androgen insensitivity syndrome 9.7 SRY NR5A1 CGA
44 persistent mullerian duct syndrome 9.6 SRY NR5A1 INSL3
45 hypospadias 9.6 SRY NR5A1 INSL3
46 physical disorder 9.6 RXFP2 INSL3
47 ovarian disease 9.6 NR5A1 CGB5 CGA
48 premature ovarian failure 1 9.5 SRY NR5A1
49 infertility 9.2 RXFP2 NR5A1 INSL3
50 kallmann syndrome 9.1 NR5A1 INSL3 CGB5 CGA

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to Anorchia

Symptoms & Phenotypes for Anorchia

Human phenotypes related to Anorchia:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 59 32 hallmark (90%) Very frequent (99-80%) HP:0000837
2 decreased serum testosterone level 59 32 hallmark (90%) Very frequent (99-80%) HP:0040171
3 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
4 absent testis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010469
5 abnormal vas deferens morphology 59 32 hallmark (90%) Very frequent (99-80%) HP:0012872
6 absent external genitalia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000042
7 vanishing testis 59 32 hallmark (90%) Very frequent (99-80%) HP:0012870
8 ambiguous genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000062
9 urogenital sinus anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0100779
10 hypoplasia of the uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000013
11 urethrovaginal fistula 59 32 frequent (33%) Frequent (79-30%) HP:0008716

Drugs & Therapeutics for Anorchia

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

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
2 Hormones Phase 1
3 Androgens Phase 1
4 Anabolic Agents Phase 1
5 Hormone Antagonists Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants After Cardiac Surgery Unknown status NCT01048632 Phase 1 Oxandrolone

Search NIH Clinical Center for Anorchia

Genetic Tests for Anorchia

Anatomical Context for Anorchia

MalaCards organs/tissues related to Anorchia:

41
Testes, Testis, Uterus, Bone, Skin, Colon, Kidney

Publications for Anorchia

Articles related to Anorchia:

(show top 50) (show all 199)
# Title Authors PMID Year
1
Pubertal growth spurt in patients with bilateral anorchia after testosterone replacement therapy. 38
31353150 2019
2
[Monorchism in a tomcat]. 38
31212353 2019
3
Controversies in the management of neonatal testicular torsion: A meta-analysis. 38
30098810 2019
4
Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility. 38
30381580 2019
5
Decision-making challenges in children with congenital and acquired monorchism: a critical literature review. 38
31180081 2019
6
A case of bilateral perinatal testicular torsion that presented with unilateral torsion; necessity of contralateral testis exploration. 38
30395797 2018
7
Case of newly diagnosed bilateral anorchia in a 42-year-old male patient. 38
30317195 2018
8
Association between cholesterol gallstones and testosterone replacement therapy in a patient with primary hypogonadism. 38
29656844 2018
9
Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin. 38
29353265 2018
10
Alström Syndrome with Portal Hypertension. 38
29319259 2017
11
Novel double-layer Silastic testicular prosthesis with controlled release of testosterone in vitro, and its effects on castrated rats. 38
27174160 2017
12
Treatment of impalpable testis - one clinic's experience. 38
28694903 2017
13
A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency. 38
27135758 2017
14
[Anti-Müllerian hormone: A brief review of the literature]. 38
28240757 2017
15
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. 38
28459839 2017
16
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. 38
27711951 2017
17
Bilateral Simultaneous Testicular Torsion in a Newborn: Report of a Case. 38
29439758 2017
18
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity. 38
27899089 2016
19
Alström Syndrome with Portal Hypertension. 38
27766814 2016
20
Testicular prostheses in children: Is earlier better? 38
27264050 2016
21
Bilateral perinatal testicular torsion: successful salvage supports emergency surgery. 38
27307430 2016
22
Clinical and histopathological results of the adult patients with unilateral cryptorchidism. 38
27274891 2016
23
Clinical, hormonal and radiological profile of 46XY disorders of sexual development. 38
27186544 2016
24
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. 38
27463801 2016
25
McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report. 38
27857528 2016
26
Mild Deficits of Cortical Bone in Young Adults With Klinefelter Syndrome or Anorchia Treated With Testosterone. 38
26186297 2015
27
The mutational spectrum of WT1 in male infertility. 38
25451826 2015
28
Testicular failure in a patient with G6PC3 deficiency. 38
24796372 2014
29
[Prune-Belly Syndrome: a case report]. 38
25030009 2014
30
A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia. 38
24035132 2014
31
Seedless orchids: Issues in the anorchid adult. 38
24910839 2013
32
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. 38
23299922 2013
33
Unfused crossed renal ectopia with ipsilateral anorchia-a rare entity. 38
24179935 2013
34
[Radiotherapy after testicular-sparing surgery for bilateral or monorchide testicular tumours: an innovative approach]. 38
23810303 2013
35
Is surgical exploration necessary in bilateral anorchia? 38
23079081 2013
36
Serum AMH in Physiology and Pathology of Male Gonads. 38
24282408 2013
37
Steroidogenic factor-1 and human disease. 38
23044873 2012
38
Different surgical findings in congenital and acquired undescended testes. 38
22289624 2012
39
A novel approach in eight polyorchidism cases: vasoepidydimal or epididymo-epididymal approximation in single vas deferens duplicated testis. 38
22521191 2012
40
Gonadotrophin secretion pattern in anorchid boys from birth to pubertal age: pathophysiological aspects and diagnostic usefulness. 38
22098623 2012
41
[Safety and effectiveness of testicular prosthesis implantation for testis loss: clinical observation of 18 cases]. 38
22574373 2012
42
Anorchia masked by septo-optic dysplasia. 38
22196414 2012
43
Neonatal testicular torsion: a survey of current practice amongst paediatric surgeons and urologists in the United Kingdom and Ireland. 38
22075349 2011
44
[Excellent growth following testosterone replacement therapy in identical twin with bilateral anorchia]. 38
21832878 2011
45
Salvage of bilateral asynchronous perinatal testicular torsion. 38
21555015 2011
46
Steroidogenic factor-1 (SF-1, NR5A1) and human disease. 38
21078366 2011
47
Clinical, biological and genetic analysis of anorchia in 26 boys. 38
21853106 2011
48
Testicular gene expression in cryptorchid boys at risk of azoospermia. 38
21412036 2011
49
Congenital pouch colon with unilateral renal agenesis and monorchism. 38
23056753 2010
50
The value of laparoscopy in the management of non-palpable testis. 38
20106723 2010

Variations for Anorchia

Expression for Anorchia

Search GEO for disease gene expression data for Anorchia.

Pathways for Anorchia

GO Terms for Anorchia

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

# Name GO ID Score Top Affiliating Genes
1 male gonad development GO:0008584 9.4 RXFP2 NR5A1
2 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 9.32 RXFP2 INSL3
3 peptide hormone processing GO:0016486 9.26 CGB5 CGA
4 male sex determination GO:0030238 9.16 SRY NR5A1
5 regulation of signaling receptor activity GO:0010469 9.07 CGA
6 positive regulation of male gonad development GO:2000020 8.96 SRY NR5A1
7 hormone-mediated signaling pathway GO:0009755 8.8 RXFP2 NR5A1 CGB5

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.62 INSL3 CGA

Sources for Anorchia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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