MCID: ANR018
MIFTS: 40

Anorchia

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

Aliases & Classifications for Anorchia

MalaCards integrated aliases for Anorchia:

Name: Anorchia 54
Testicular Agenesis 54 60
Bilateral Anorchia 54 60
Congenital Absence of Testes 54
Absence of Testes 54
Absent Testicle 74
Empty Scrotum 54

Classifications:



External Ids:

ICD10 via Orphanet 35 Q55.0
Orphanet 60 ORPHA325124
UMLS 74 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 Androgens 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 : 77 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 36)
# Related Disease Score Top Affiliating Genes
1 pseudohermaphroditism 30.4 NR5A1 SRY
2 testicular regression syndrome 11.5
3 hermaphroditism 10.1 CGA SRY
4 complete androgen insensitivity syndrome 10.1 CGA SRY
5 gynecomastia 10.1 CGA SRY
6 46,xy partial gonadal dysgenesis 10.1 NR5A1 SRY
7 gonadal dysgenesis 10.1 NR5A1 SRY
8 46,xx sex reversal 1 10.0 NR5A1 SRY
9 hydatidiform mole, recurrent, 1 10.0 CGA CGB5
10 hypogonadotropic hypogonadism 7 with or without anosmia 10.0
11 septooptic dysplasia 10.0
12 hypogonadotropic hypogonadism 10.0
13 hypogonadism 10.0
14 isolated gonadotropin-releasing hormone deficiency 10.0
15 46 xy gonadal dysgenesis 10.0 NR5A1 SRY
16 leydig cell tumor 10.0 INSL3 NR5A1
17 ectopic pregnancy 10.0 CGA CGB5
18 frasier syndrome 10.0 NR5A1 SRY
19 placenta disease 10.0 CGA CGB5
20 alternating hemiplegia of childhood 10.0 NR5A1 SRY
21 amenorrhea 10.0 NR5A1 SRY
22 lipoid congenital adrenal hyperplasia 9.9 NR5A1 SRY
23 gonadal disease 9.9 NR5A1 SRY
24 testicular disease 9.9 INSL3 RXFP2
25 seminoma 9.8 CGA CGB5
26 persistent mullerian duct syndrome 9.8 INSL3 NR5A1 SRY
27 hypospadias 9.8 INSL3 NR5A1 SRY
28 physical disorder 9.8 INSL3 RXFP2
29 premature ovarian failure 1 9.8 NR5A1 SRY
30 androgen insensitivity syndrome 9.8 CGA NR5A1 SRY
31 ovarian disease 9.7 CGA CGB5 NR5A1
32 choriocarcinoma 9.7 CGA CGB5
33 infertility 9.5 INSL3 NR5A1 RXFP2
34 kallmann syndrome 9.4 CGA CGB5 INSL3 NR5A1
35 testicular cancer 9.3 CGA CGB5 INSL3 RXFP2
36 cryptorchidism, unilateral or bilateral 8.7 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:

60 33 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 60 33 hallmark (90%) Very frequent (99-80%) HP:0000837
2 decreased serum testosterone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0040171
3 micropenis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000054
4 absent testis 60 33 hallmark (90%) Very frequent (99-80%) HP:0010469
5 abnormal vas deferens morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0012872
6 vanishing testis 60 33 hallmark (90%) Very frequent (99-80%) HP:0012870
7 absent external genitalia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000042
8 ambiguous genitalia 60 33 frequent (33%) Frequent (79-30%) HP:0000062
9 urogenital sinus anomaly 60 33 frequent (33%) Frequent (79-30%) HP:0100779
10 hypoplasia of the uterus 60 33 frequent (33%) Frequent (79-30%) HP:0000013
11 urethrovaginal fistula 60 33 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 Androgens Phase 1
3 Hormones Phase 1
4 Hormone Antagonists Phase 1
5 Anabolic Agents 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 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:

42
Testes, Testis, Uterus, Bone

Publications for Anorchia

Articles related to Anorchia:

(show top 50) (show all 51)
# 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
Case of newly diagnosed bilateral anorchia in a 42-year-old male patient. ( 30317195 )
2018
3
Mild Deficits of Cortical Bone in Young Adults With Klinefelter Syndrome or Anorchia Treated With Testosterone. ( 26186297 )
2015
4
A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia. ( 24035132 )
2014
5
Unfused crossed renal ectopia with ipsilateral anorchia-a rare entity. ( 24179935 )
2013
6
Is surgical exploration necessary in bilateral anorchia? ( 23079081 )
2013
7
Anorchia masked by septo-optic dysplasia. ( 22196414 )
2012
8
Clinical, biological and genetic analysis of anorchia in 26 boys. ( 21853106 )
2011
9
[Excellent growth following testosterone replacement therapy in identical twin with bilateral anorchia]. ( 21832878 )
2011
10
Undetectable AMH at 3 days of age: a clue to bilateral anorchia. ( 20801110 )
2010
11
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. ( 17940071 )
2007
12
Congenital bilateral anorchia: hormonal, molecular and imaging study of a case. ( 17183475 )
2006
13
Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment. ( 17095345 )
2006
14
Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia. ( 15286448 )
2004
15
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. ( 15579790 )
2004
16
Is bilateral congenital anorchia genetically determined? ( 10584191 )
1999
17
A genotypic male with anorchia in conjunction with isolated idiopathic hypogonadotropic hypogonadism. ( 10573004 )
1999
18
Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases. ( 8893097 )
1996
19
Bilateral congenital anorchia in three siblings. ( 8200172 )
1994
20
PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. ( 8435900 )
1993
21
Anorchia associated with gonadotropin deficiency. ( 8266617 )
1993
22
Congenital anorchia: natural history and treatment. ( 1427642 )
1992
23
Evidence in favor of the mechanical (intrauterine torsion) theory over the endocrinopathy (cryptorchidism) theory in the pathogenesis of testicular agenesis. ( 1677689 )
1991
24
Depot testosterone in boys with anorchia or gonadotrophin deficiency: effect on growth rate and adult height. ( 2001104 )
1991
25
Somatomedin response to testosterone stimulation in children with male pseudohermaphroditism, cryptorchidism, anorchia, or micropenis. ( 2858491 )
1985
26
Renal and testicular agenesis in a patient with Darier's disease. ( 3993667 )
1985
27
Re: Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. ( 3981729 )
1985
28
Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. ( 6236305 )
1984
29
Bilateral anorchia. ( 7185833 )
1982
30
Sex hormone-binding globulin response to human chorionic gonadotropin stimulation in children with cryptorchidism, anorchia, male pseudohermaphroditism, and micropenis. ( 6120946 )
1982
31
Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development. ( 7195543 )
1981
32
Circulating gonadotropin pattern in anorchia syndrome. Response to treatment. ( 6775612 )
1980
33
Treatment of anorchia with oral testosterone undecanoate: pharmacodynamics and clinical effectiveness. ( 6776754 )
1980
34
Anorchia and persistent MA1llerian duct: a variant of the embryonic testicular regression syndrome. ( 122413 )
1978
35
Transplantation of a human testis for anorchia. ( 680196 )
1978
36
Angiography of the testicular artery. II. Cryptorchism and testicular agenesis. ( 16439 )
1977
37
Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. ( 786507 )
1976
38
Familial congenital anorchia. ( 239779 )
1975
39
Micropenis associated with testicular agenesis. ( 1147662 )
1975
40
Testicular nondescent versus testicular agenesis: importance of diagnosis and correct surgical management. ( 4156099 )
1974
41
Cone-shaped epiphyses in the distal phalanges. Case report of a child with anorchia. ( 4404981 )
1972
42
Anorchia. A variety of the "empty scrotum". ( 4396259 )
1971
43
Bilateral anorchia: discordance in monozygotic twins. ( 5173161 )
1971
44
Bilateral anorchia with sickle-C disease. ( 5539785 )
1971
45
Bilateral anorchia with persistent testosterone production. ( 5410219 )
1970
46
HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism. ( 4394269 )
1970
47
Effect of testosterone on growth hormone secretion in patients with anorchia and delayed puberty. ( 4315480 )
1970
48
Testicular agenesis in a boy with XY-XYY mosaicism. ( 5308381 )
1969
49
Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndrome of rudimentary testes. ( 13867602 )
1962
50
Monorchia (congenital unilateral anorchia). ( 13304302 )
1956

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 signaling receptor activity GO:0010469 9.54 CGA CGB5 INSL3
2 male gonad development GO:0008584 9.4 NR5A1 RXFP2
3 adenylate cyclase-inhibiting G protein-coupled receptor signaling pathway GO:0007193 9.32 INSL3 RXFP2
4 peptide hormone processing GO:0016486 9.26 CGA CGB5
5 male sex determination GO:0030238 9.16 NR5A1 SRY
6 positive regulation of male gonad development GO:2000020 8.96 NR5A1 SRY
7 hormone-mediated signaling pathway GO:0009755 8.8 CGB5 NR5A1 RXFP2

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 CGA INSL3

Sources for Anorchia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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