MCID: ANR018
MIFTS: 40

Anorchia

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Fetal 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 73
Empty Scrotum 53

Classifications:



External Ids:

Orphanet 59 ORPHA325124
ICD10 via Orphanet 34 Q55.0
UMLS 73 C0405582

Summaries for Anorchia

MalaCards based summary : Anorchia, also known as testicular agenesis, is related to pseudohermaphroditism and testicular regression syndrome. 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 Anabolic Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and uterus, and related phenotypes are hypoplasia of the uterus and absent external genitalia

Wikipedia : 76 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 all 39)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphroditism 30.1 NR5A1 SRY
2 testicular regression syndrome 11.3
3 complete androgen insensitivity syndrome 10.2 CGA SRY
4 gynecomastia 10.2 CGA SRY
5 46,xy partial gonadal dysgenesis 10.1 NR5A1 SRY
6 46,xx sex reversal 1 10.1 NR5A1 SRY
7 hydatidiform mole, recurrent, 1 10.1 CGA CGB5
8 46 xy gonadal dysgenesis 10.1 NR5A1 SRY
9 ectopic pregnancy 10.1 CGA CGB5
10 frasier syndrome 10.0 NR5A1 SRY
11 leydig cell tumor 10.0 INSL3 NR5A1
12 gonadal disease 10.0 NR5A1 SRY
13 alternating hemiplegia of childhood 10.0 NR5A1 SRY
14 amenorrhea 10.0 NR5A1 SRY
15 47, xxy 10.0
16 gonadal dysgenesis 10.0 NR5A1 SRY
17 lipoid congenital adrenal hyperplasia 9.9 NR5A1 SRY
18 reproductive system disease 9.8 NR5A1 SRY
19 hypogonadotropic hypogonadism 7 with or without anosmia 9.8
20 septooptic dysplasia 9.8
21 aging 9.8
22 hypogonadotropic hypogonadism 9.8
23 hypogonadism 9.8
24 conjunctivitis 9.8
25 hypogonadotropism 9.8
26 isolated gonadotropin-releasing hormone deficiency 9.8
27 seminoma 9.8 CGA CGB5
28 testicular disease 9.7 CGA INSL3 SRY
29 choriocarcinoma 9.7 CGA CGB5
30 persistent mullerian duct syndrome 9.6 INSL3 NR5A1 SRY
31 hypospadias 9.6 INSL3 NR5A1 SRY
32 physical disorder 9.6 INSL3 RXFP2
33 androgen insensitivity syndrome 9.5 CGA NR5A1 SRY
34 ovarian disease 9.5 CGA NR5A1
35 wilms tumor 1 9.4 NR5A1 SRY
36 infertility 9.1 INSL3 NR5A1 RXFP2
37 kallmann syndrome 8.9 CGA CGB5 INSL3 NR5A1
38 testicular cancer 8.6 CGA CGB5 INSL3 RXFP2
39 cryptorchidism, unilateral or bilateral 7.4 CGA CGB5 INSL3 NR5A1 RXFP2 SRY

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

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 Anabolic Agents Phase 1
3 Androgens Phase 1
4 Hormone Antagonists Phase 1
5 Hormones Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants Active, not recruiting 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

Publications for Anorchia

Articles related to Anorchia:

(show all 50)
# Title Authors Year
1
Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin. ( 29353265 )
2018
2
Mild Deficits of Cortical Bone in Young Adults With Klinefelter Syndrome or Anorchia Treated With Testosterone. ( 26186297 )
2015
3
A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia. ( 24035132 )
2014
4
Unfused crossed renal ectopia with ipsilateral anorchia-a rare entity. ( 24179935 )
2013
5
Is surgical exploration necessary in bilateral anorchia? ( 23079081 )
2013
6
Anorchia masked by septo-optic dysplasia. ( 22196414 )
2012
7
Clinical, biological and genetic analysis of anorchia in 26 boys. ( 21853106 )
2011
8
[Excellent growth following testosterone replacement therapy in identical twin with bilateral anorchia]. ( 21832878 )
2011
9
Undetectable AMH at 3 days of age: a clue to bilateral anorchia. ( 20801110 )
2010
10
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. ( 17940071 )
2007
11
Congenital bilateral anorchia: hormonal, molecular and imaging study of a case. ( 17183475 )
2006
12
Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment. ( 17095345 )
2006
13
Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia. ( 15286448 )
2004
14
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. ( 15579790 )
2004
15
Is bilateral congenital anorchia genetically determined? ( 10584191 )
1999
16
A genotypic male with anorchia in conjunction with isolated idiopathic hypogonadotropic hypogonadism. ( 10573004 )
1999
17
Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases. ( 8893097 )
1996
18
Bilateral congenital anorchia in three siblings. ( 8200172 )
1994
19
PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. ( 8435900 )
1993
20
Anorchia associated with gonadotropin deficiency. ( 8266617 )
1993
21
Congenital anorchia: natural history and treatment. ( 1427642 )
1992
22
Evidence in favor of the mechanical (intrauterine torsion) theory over the endocrinopathy (cryptorchidism) theory in the pathogenesis of testicular agenesis. ( 1677689 )
1991
23
Depot testosterone in boys with anorchia or gonadotrophin deficiency: effect on growth rate and adult height. ( 2001104 )
1991
24
Somatomedin response to testosterone stimulation in children with male pseudohermaphroditism, cryptorchidism, anorchia, or micropenis. ( 2858491 )
1985
25
Renal and testicular agenesis in a patient with Darier's disease. ( 3993667 )
1985
26
Re: Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. ( 3981729 )
1985
27
Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. ( 6236305 )
1984
28
Bilateral anorchia. ( 7185833 )
1982
29
Sex hormone-binding globulin response to human chorionic gonadotropin stimulation in children with cryptorchidism, anorchia, male pseudohermaphroditism, and micropenis. ( 6120946 )
1982
30
Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development. ( 7195543 )
1981
31
Circulating gonadotropin pattern in anorchia syndrome. Response to treatment. ( 6775612 )
1980
32
Treatment of anorchia with oral testosterone undecanoate: pharmacodynamics and clinical effectiveness. ( 6776754 )
1980
33
Anorchia and persistent MA1llerian duct: a variant of the embryonic testicular regression syndrome. ( 122413 )
1978
34
Transplantation of a human testis for anorchia. ( 680196 )
1978
35
Angiography of the testicular artery. II. Cryptorchism and testicular agenesis. ( 16439 )
1977
36
Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. ( 786507 )
1976
37
Familial congenital anorchia. ( 239779 )
1975
38
Micropenis associated with testicular agenesis. ( 1147662 )
1975
39
Testicular nondescent versus testicular agenesis: importance of diagnosis and correct surgical management. ( 4156099 )
1974
40
Cone-shaped epiphyses in the distal phalanges. Case report of a child with anorchia. ( 4404981 )
1972
41
Anorchia. A variety of the "empty scrotum". ( 4396259 )
1971
42
Bilateral anorchia: discordance in monozygotic twins. ( 5173161 )
1971
43
Bilateral anorchia with sickle-C disease. ( 5539785 )
1971
44
Bilateral anorchia with persistent testosterone production. ( 5410219 )
1970
45
HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism. ( 4394269 )
1970
46
Effect of testosterone on growth hormone secretion in patients with anorchia and delayed puberty. ( 4315480 )
1970
47
Testicular agenesis in a boy with XY-XYY mosaicism. ( 5308381 )
1969
48
Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndrome of rudimentary testes. ( 13867602 )
1962
49
Monorchia (congenital unilateral anorchia). ( 13304302 )
1956
50
Congenital Absence of Testes (Anorchia). ( 17866999 )
1933

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 regulation of transcription by RNA polymerase II GO:0006357 9.56 CGA CGB5 NR5A1 SRY
2 regulation of signaling receptor activity GO:0010469 9.5 CGA CGB5 INSL3
3 male gonad development GO:0008584 9.37 NR5A1 RXFP2
4 peptide hormone processing GO:0016486 9.16 CGA CGB5
5 positive regulation of male gonad development GO:2000020 8.96 NR5A1 SRY
6 cell-cell signaling GO:0007267 8.92 CGA CGB5 INSL3 NR5A1

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

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.96 CGA INSL3
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 NR5A1 SRY

Sources for Anorchia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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