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 20 6
Testicular Agenesis 20 58
Bilateral Anorchia 20 58
Congenital Absence of Testes 20
Absence of Testes 20
Absent Testicle 71
Empty Scrotum 20

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q55.0
Orphanet 58 ORPHA325124
UMLS 71 C0405582

Summaries for Anorchia

MalaCards based summary : Anorchia, also known as testicular agenesis, is related to 46,xy sex reversal 11 and pseudohermaphroditism. An important gene associated with Anorchia is DHX37 (DEAH-Box Helicase 37), and among its related pathways/superpathways are G alpha (s) signalling events and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. Affiliated tissues include testes, testis and uterus, and related phenotypes are increased circulating gonadotropin level and micropenis

Wikipedia : 74 Anorchia (also called anorchidism or anorchism) is a disorder of sex development in which a person with... more...

Related Diseases for Anorchia

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 46,xy sex reversal 11 31.7 SRY DHX37
2 pseudohermaphroditism 29.9 SRY NR5A1 INSL3
3 testicular torsion 29.5 RXFP2 INSL3 CGB5
4 cryptorchidism, unilateral or bilateral 29.2 RXFP2 NR5A1 INSL3 CGB5 CGA
5 gonadal dysgenesis 29.0 SRY NR5A1 DHX37 CGB5
6 hypogonadism 10.3
7 penis agenesis 10.3
8 adrenal rest tumor 10.1 NR5A1 INSL3
9 hypogonadotropic hypogonadism 10.1
10 prune belly syndrome 10.1 RXFP2 INSL3
11 leydig cell tumor 10.1 NR5A1 INSL3
12 nonsyndromic disorders of testicular development 10.0 SRY NR5A1
13 46,xx sex reversal 10.0 SRY NR5A1
14 frasier syndrome 10.0 SRY NR5A1
15 testicular disease 10.0 RXFP2 INSL3
16 46,xx sex reversal 1 10.0 SRY NR5A1
17 campomelic dysplasia 10.0 SRY NR5A1
18 inguinal hernia 9.9
19 hermaphroditism 9.9 SRY CGA
20 complete androgen insensitivity syndrome 9.9 SRY CGA
21 infertility 9.9 RXFP2 NR5A1 INSL3
22 persistent mullerian duct syndrome 9.9 RXFP2 NR5A1 INSL3
23 disorder of sexual development 9.9 RXFP2 NR5A1 INSL3
24 hypogonadotropic hypogonadism 7 with or without anosmia 9.9
25 septooptic dysplasia 9.9
26 testes, rudimentary 9.9
27 chronic pyelonephritis 9.9
28 pyelonephritis 9.9
29 orchitis 9.9
30 acne 9.9
31 isolated gonadotropin-releasing hormone deficiency 9.9
32 congenital hypogonadotropic hypogonadism 9.9
33 darier-white disease 9.8
34 hashimoto thyroiditis 9.8
35 goiter 9.8
36 thyroiditis 9.8
37 47,xyy 9.8
38 46,xy partial gonadal dysgenesis 9.8 SRY NR5A1 DHX37
39 46,xy sex reversal 9.8 SRY NR5A1 DHX37
40 hydatidiform mole, recurrent, 1 9.7 CGB5 CGA
41 trophoblastic neoplasm 9.7 CGB5 CGA
42 germinoma 9.7 CGB5 CGA
43 ovarian hyperstimulation syndrome 9.7 CGB5 CGA
44 ectopic pregnancy 9.6 CGB5 CGA
45 hypospadias 9.6 SRY RXFP2 NR5A1 INSL3
46 mixed gonadal dysgenesis 9.6 SRY NR5A1 CGB5
47 gonadoblastoma 9.6 SRY NR5A1 CGB5
48 placenta disease 9.6 CGB5 CGA
49 seminoma 9.6 CGB5 CGA
50 teratoma 9.5 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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 58 31 hallmark (90%) Very frequent (99-80%) HP:0000837
2 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
3 absent testis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010469
4 absent external genitalia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000042
5 vanishing testis 58 31 hallmark (90%) Very frequent (99-80%) HP:0012870
6 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
7 abnormal vas deferens morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0012872
8 ambiguous genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000062
9 urogenital sinus anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0100779
10 hypoplasia of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000013
11 urethrovaginal fistula 58 31 frequent (33%) Frequent (79-30%) HP:0008716

Drugs & Therapeutics for Anorchia

Search Clinical Trials , NIH Clinical Center for Anorchia

Genetic Tests for Anorchia

Anatomical Context for Anorchia

MalaCards organs/tissues related to Anorchia:

40
Testes, Testis, Uterus, Colon

Publications for Anorchia

Articles related to Anorchia:

(show top 50) (show all 204)
# Title Authors PMID Year
1
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome. 6
31337883 2020
2
Genetic Evidence of the Association of DEAH-Box Helicase 37 Defects With 46,XY Gonadal Dysgenesis Spectrum. 6
31287541 2019
3
Prenatally Diagnosed Testicular Torsion: A Rare Condition That Causes Dilemma in Management. 61
33532107 2021
4
The LH/FSH ratio is not a sex-dimorphic marker after infancy: data from 6417 healthy individuals and 125 patients with Differences of Sex Development. 61
32976602 2020
5
Partial orchiectomy vs. radical orchiectomy for pediatric testis tumors. 61
33209713 2020
6
Distinguishing between hidden testes and anorchia: the role of endocrine evaluation in infancy and childhood. 61
32422605 2020
7
Pubertal growth spurt in patients with bilateral anorchia after testosterone replacement therapy. 61
31353150 2019
8
[Monorchism in a tomcat]. 61
31212353 2019
9
Controversies in the management of neonatal testicular torsion: A meta-analysis. 61
30098810 2019
10
Regulation of anti-Müllerian hormone (AMH) in males and the associations of serum AMH with the disorders of male fertility. 61
30381580 2019
11
Decision-making challenges in children with congenital and acquired monorchism: a critical literature review. 61
31180081 2019
12
A case of bilateral perinatal testicular torsion that presented with unilateral torsion; necessity of contralateral testis exploration. 61
30395797 2018
13
Case of newly diagnosed bilateral anorchia in a 42-year-old male patient. 61
30317195 2018
14
Association between cholesterol gallstones and testosterone replacement therapy in a patient with primary hypogonadism. 61
29656844 2018
15
Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin. 61
29353265 2018
16
Novel double-layer Silastic testicular prosthesis with controlled release of testosterone in vitro, and its effects on castrated rats. 61
27174160 2017
17
Treatment of impalpable testis - one clinic's experience. 61
28694903 2017
18
A novel mutation in steroidogenic factor (SF1/NR5A1) gene in a patient with 46 XY DSD without adrenal insufficiency. 61
27135758 2017
19
[Anti-Müllerian hormone: A brief review of the literature]. 61
28240757 2017
20
New NR5A1 mutations and phenotypic variations of gonadal dysgenesis. 61
28459839 2017
21
Novel Heterozygous Genetic Variants in Patients with 46,XY Gonadal Dysgenesis. 61
27711951 2017
22
Bilateral Simultaneous Testicular Torsion in a Newborn: Report of a Case. 61
29439758 2017
23
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity. 61
27899089 2016
24
Alström Syndrome with Portal Hypertension. 61
27766814 2016
25
Testicular prostheses in children: Is earlier better? 61
27264050 2016
26
Bilateral perinatal testicular torsion: successful salvage supports emergency surgery. 61
27307430 2016
27
Clinical and histopathological results of the adult patients with unilateral cryptorchidism. 61
27274891 2016
28
Clinical, hormonal and radiological profile of 46XY disorders of sexual development. 61
27186544 2016
29
NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations. 61
27463801 2016
30
McCune Albright syndrome - association of fibrous dysplasia, café-au-lait skin spots and hyperthyroidism - case report. 61
27857528 2016
31
Mild Deficits of Cortical Bone in Young Adults With Klinefelter Syndrome or Anorchia Treated With Testosterone. 61
26186297 2015
32
The mutational spectrum of WT1 in male infertility. 61
25451826 2015
33
Testicular failure in a patient with G6PC3 deficiency. 61
24796372 2014
34
[Prune-Belly Syndrome: a case report]. 61
25030009 2014
35
A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia. 61
24035132 2014
36
Seedless orchids: Issues in the anorchid adult. 61
24910839 2013
37
Unfused crossed renal ectopia with ipsilateral anorchia-a rare entity. 61
24179935 2013
38
Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males. 61
23299922 2013
39
[Radiotherapy after testicular-sparing surgery for bilateral or monorchide testicular tumours: an innovative approach]. 61
23810303 2013
40
Is surgical exploration necessary in bilateral anorchia? 61
23079081 2013
41
Serum AMH in Physiology and Pathology of Male Gonads. 61
24282408 2013
42
Steroidogenic factor-1 and human disease. 61
23044873 2012
43
Different surgical findings in congenital and acquired undescended testes. 61
22289624 2012
44
A novel approach in eight polyorchidism cases: vasoepidydimal or epididymo-epididymal approximation in single vas deferens duplicated testis. 61
22521191 2012
45
Gonadotrophin secretion pattern in anorchid boys from birth to pubertal age: pathophysiological aspects and diagnostic usefulness. 61
22098623 2012
46
[Safety and effectiveness of testicular prosthesis implantation for testis loss: clinical observation of 18 cases]. 61
22574373 2012
47
Anorchia masked by septo-optic dysplasia. 61
22196414 2012
48
Neonatal testicular torsion: a survey of current practice amongst paediatric surgeons and urologists in the United Kingdom and Ireland. 61
22075349 2011
49
[Excellent growth following testosterone replacement therapy in identical twin with bilateral anorchia]. 61
21832878 2011
50
Salvage of bilateral asynchronous perinatal testicular torsion. 61
21555015 2011

Variations for Anorchia

ClinVar genetic disease variations for Anorchia:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DHX37 NM_032656.4(DHX37):c.911C>T (p.Thr304Met) SNV Pathogenic 869419 12:125460034-125460034 12:124975488-124975488
2 DHX37 NM_032656.4(DHX37):c.923G>A (p.Arg308Gln) SNV Pathogenic 869420 12:125460022-125460022 12:124975476-124975476
3 DHX37 NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp) SNV Pathogenic 869421 12:125448965-125448965 12:124964419-124964419
4 DHX37 NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe) SNV Pathogenic 869422 12:125449504-125449504 12:124964958-124964958
5 DHX37 NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln) SNV Pathogenic 869423 12:125448964-125448964 12:124964418-124964418

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 G protein-coupled receptor signaling pathway GO:0007186 9.67 RXFP2 INSL3 CGB5 CGA
2 male gonad development GO:0008584 9.4 RXFP2 NR5A1
3 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 9.32 RXFP2 INSL3
4 peptide hormone processing GO:0016486 9.26 CGB5 CGA
5 male sex determination GO:0030238 9.16 SRY NR5A1
6 hormone-mediated signaling pathway GO:0009755 9.13 RXFP2 NR5A1 CGB5
7 positive regulation of male gonad development GO:2000020 8.8 SRY NR5A1 DHX37

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.8 INSL3 CGB5 CGA

Sources for Anorchia

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....