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 49
Testicular Agenesis 49 55
Bilateral Anorchia 49 55
Congenital Absence of Testes 49
Absence of Testes 49
Absent Testicle 69
Empty Scrotum 49

Classifications:



External Ids:

Orphanet 55 ORPHA325124
ICD10 via Orphanet 33 Q55.0
UMLS 69 C0405582

Summaries for Anorchia

MalaCards based summary : Anorchia, also known as testicular agenesis, is related to cryptorchidism, unilateral or bilateral and testicular regression syndrome, and has symptoms including hypoplasia of the uterus, absent external genitalia and micropenis. 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.

Wikipedia : 72 Anorchia (or anorchism) is an XY disorder of sex development in which individuals have both testes... 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 cryptorchidism, unilateral or bilateral 27.6 CGA CGB5 INSL3 NR5A1 RXFP2 SRY
2 testicular regression syndrome 11.3
3 complete androgen insensitivity syndrome 10.1 CGA SRY
4 gynecomastia 10.1 CGA SRY
5 46,xy partial gonadal dysgenesis 10.1 NR5A1 SRY
6 pseudohermaphroditism 10.1
7 46,xx sex reversal 1 10.1 NR5A1 SRY
8 malignant germ cell tumor 10.1 CGA CGB5
9 hydatidiform mole, recurrent, 1 10.0 CGA CGB5
10 ectopic pregnancy 10.0 CGA CGB5
11 frasier syndrome 10.0 NR5A1 SRY
12 46 xy gonadal dysgenesis 10.0 NR5A1 SRY
13 gonadal disease 10.0 NR5A1 SRY
14 alternating hemiplegia of childhood 10.0 NR5A1 SRY
15 lipoid congenital adrenal hyperplasia 10.0 NR5A1 SRY
16 amenorrhea 10.0 NR5A1 SRY
17 gonadal dysgenesis 9.9 NR5A1 SRY
18 reproductive system disease 9.9 NR5A1 SRY
19 testicular disease 9.8 CGA INSL3 SRY
20 hypogonadotropic hypogonadism 7 with or without anosmia 9.8
21 septooptic dysplasia 9.8
22 aging 9.8
23 hypogonadotropic hypogonadism 9.8
24 hypogonadism 9.8
25 conjunctivitis 9.8
26 hypogonadotropism 9.8
27 seminoma 9.8 CGA CGB5
28 persistent mullerian duct syndrome 9.7 INSL3 NR5A1 SRY
29 hypospadias 9.7 INSL3 NR5A1 SRY
30 choriocarcinoma 9.7 CGA CGB5
31 androgen insensitivity syndrome 9.7 CGA NR5A1 SRY
32 physical disorder 9.7 INSL3 RXFP2
33 wilms tumor 1 9.6 NR5A1 SRY
34 infertility 9.4 INSL3 NR5A1 RXFP2
35 kallmann syndrome 9.3 CGA CGB5 INSL3 NR5A1
36 testicular cancer 9.1 CGA CGB5 INSL3 RXFP2

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to Anorchia

Symptoms & Phenotypes for Anorchia

Human phenotypes related to Anorchia:

55 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the uterus 55 31 frequent (33%) Frequent (79-30%) HP:0000013
2 absent external genitalia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000042
3 micropenis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000054
4 ambiguous genitalia 55 31 frequent (33%) Frequent (79-30%) HP:0000062
5 increased circulating gonadotropin level 55 31 hallmark (90%) Very frequent (99-80%) HP:0000837
6 urethrovaginal fistula 55 31 frequent (33%) Frequent (79-30%) HP:0008716
7 absent testis 55 31 hallmark (90%) Very frequent (99-80%) HP:0010469
8 vanishing testis 55 31 hallmark (90%) Very frequent (99-80%) HP:0012870
9 abnormal vas deferens morphology 55 31 hallmark (90%) Very frequent (99-80%) HP:0012872
10 decreased serum testosterone level 55 31 hallmark (90%) Very frequent (99-80%) HP:0040171
11 urogenital sinus anomaly 55 31 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:

38
Testes, Testis, Uterus, Bone

Publications for Anorchia

Articles related to Anorchia:

(show all 43)
# 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
Undetectable AMH at 3 days of age: a clue to bilateral anorchia. ( 20801110 )
2010
9
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. ( 17940071 )
2007
10
Congenital bilateral anorchia: hormonal, molecular and imaging study of a case. ( 17183475 )
2006
11
Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment. ( 17095345 )
2006
12
Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia. ( 15286448 )
2004
13
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. ( 15579790 )
2004
14
Is bilateral congenital anorchia genetically determined? ( 10584191 )
1999
15
A genotypic male with anorchia in conjunction with isolated idiopathic hypogonadotropic hypogonadism. ( 10573004 )
1999
16
Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases. ( 8893097 )
1996
17
Bilateral congenital anorchia in three siblings. ( 8200172 )
1994
18
PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. ( 8435900 )
1993
19
Anorchia associated with gonadotropin deficiency. ( 8266617 )
1993
20
Congenital anorchia: natural history and treatment. ( 1427642 )
1992
21
Depot testosterone in boys with anorchia or gonadotrophin deficiency: effect on growth rate and adult height. ( 2001104 )
1991
22
Somatomedin response to testosterone stimulation in children with male pseudohermaphroditism, cryptorchidism, anorchia, or micropenis. ( 2858491 )
1985
23
Re: Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. ( 3981729 )
1985
24
Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. ( 6236305 )
1984
25
Bilateral anorchia. ( 7185833 )
1982
26
Sex hormone-binding globulin response to human chorionic gonadotropin stimulation in children with cryptorchidism, anorchia, male pseudohermaphroditism, and micropenis. ( 6120946 )
1982
27
Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development. ( 7195543 )
1981
28
Treatment of anorchia with oral testosterone undecanoate: pharmacodynamics and clinical effectiveness. ( 6776754 )
1980
29
Circulating gonadotropin pattern in anorchia syndrome. Response to treatment. ( 6775612 )
1980
30
Transplantation of a human testis for anorchia. ( 680196 )
1978
31
Anorchia and persistent MA1llerian duct: a variant of the embryonic testicular regression syndrome. ( 122413 )
1978
32
Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. ( 786507 )
1976
33
Familial congenital anorchia. ( 239779 )
1975
34
Cone-shaped epiphyses in the distal phalanges. Case report of a child with anorchia. ( 4404981 )
1972
35
Bilateral anorchia with sickle-C disease. ( 5539785 )
1971
36
Bilateral anorchia: discordance in monozygotic twins. ( 5173161 )
1971
37
Anorchia. A variety of the "empty scrotum". ( 4396259 )
1971
38
Bilateral anorchia with persistent testosterone production. ( 5410219 )
1970
39
HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism. ( 4394269 )
1970
40
Effect of testosterone on growth hormone secretion in patients with anorchia and delayed puberty. ( 4315480 )
1970
41
Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndrome of rudimentary testes. ( 13867602 )
1962
42
Monorchia (congenital unilateral anorchia). ( 13304302 )
1956
43
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 receptor activity GO:0010469 9.5 CGA CGB5 INSL3
2 regulation of transcription by RNA polymerase II GO:0006357 9.46 CGA CGB5 NR5A1 SRY
3 male gonad development GO:0008584 9.37 NR5A1 RXFP2
4 peptide hormone processing GO:0016486 9.26 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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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