MCID: ANR018
MIFTS: 36

Anorchia malady

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

Aliases & Classifications for Anorchia

About this section
Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Anorchia:

Name: Anorchia 45
Testicular Agenesis 45 51
Bilateral Anorchia 45 51
Congenital Absence of Testes 45
 
Absence of Testes 45
Absent Testicle 65
Empty Scrotum 45

Classifications:



External Ids:

Orphanet51 325124
ICD10 via Orphanet28 Q55.0
UMLS65 C0405582

Summaries for Anorchia

About this section
Wikipedia:68 Anorchia (or anorchism) is an XY disorder of sex development in which individuals have both testes... more...

MalaCards based summary: Anorchia, also known as testicular agenesis, is related to pseudohermaphroditism and testicular regression syndrome. An important gene associated with Anorchia is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways is G alpha (s) signalling events. Affiliated tissues include testes, testis and breast, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Related Diseases for Anorchia

About this section

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

(show all 37)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohermaphroditism30.1CGA, SRY
2testicular regression syndrome10.5
3dysmorphism-short stature-deafness-disorder of sex development syndrome10.4NR5A1, SRY
4actg2-related disorders10.4NR5A1, SRY
548,xxxy syndrome10.3NR5A1, SRY
6swyer-james syndrome10.3NR5A1, SRY
7nephrotic syndrome, type 410.3NR5A1, SRY
8pfeiffer syndrome10.2CGB5, NR5A1
9meacham syndrome10.2NR5A1, SRY
10hidradenitis suppurativa10.2NR5A1, SRY
11alternating hemiplegia of childhood10.2NR5A1, SRY
1246 xy gonadal dysgenesis10.1NR5A1, SRY
13renal adenoma10.1INSL3, NR5A1
14alcoholic psychosis10.1INSL3, SRY
15cryptorchidism10.1
16urinary schistosomiasis10.1NR5A1, SRY
17hyperbiliverdinemia10.0NR5A1, SRY
18testicular spermatocytic seminoma10.0CGA, SRY
19microcephaly9.9NR5A1, SRY
20hypogonadism9.9
21conjunctivitis9.9
22hypogonadotropism9.9
23dysbaric osteonecrosis9.8INSL3, RXFP2
24familial cold autoinflammatory syndrome 29.8CGA, CGB5
25geroderma osteodysplastica9.8CGA, CGB5
26autosomal dominant sideroblastic anemia9.8CGA, CGB5
27lymphadenitis9.8CGA, CGB5
28leiomyoma9.8CGA, SRY
29short qt syndrome9.8INSL3, NR5A1, SRY
30acute hemorrhagic encephalitis9.7INSL3, NR5A1, RXFP2
31infiltrating angiolipoma9.7CGB5, INSL3, NR5A1
32spinal and bulbar muscular atrophy of kennedy9.6CGA, NR5A1, SRY
33placental site trophoblastic tumor9.5CGA, CGB5
34exocervical carcinoma9.4CGA, NR5A1
35female reproductive endometrioid cancer8.8CGA, CGB5, INSL3, RXFP2
36leprechaunism8.4CGA, CGB5, INSL3, NR5A1, RXFP2
37anorectal atresia8.0CGA, CGB5, INSL3, NR5A1, RXFP2, SRY

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Symptoms for Anorchia

About this section

Drugs & Therapeutics for Anorchia

About this section

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

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Oxandroloneapproved, investigationalPhase 11553-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 19988
3HormonesPhase 111748
4Hormone AntagonistsPhase 110002
5AndrogensPhase 11162
6Anabolic AgentsPhase 1375

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in InfantsRecruitingNCT01048632Phase 1

Search NIH Clinical Center for Anorchia

Genetic Tests for Anorchia

About this section

Anatomical Context for Anorchia

About this section

MalaCards organs/tissues related to Anorchia:

33
Testes, Testis, Breast, Bone, Lymph node, Colon, Lung

Animal Models for Anorchia or affiliated genes

About this section

MGI Mouse Phenotypes related to Anorchia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1CGA, INSL3, NR5A1, RXFP2
2MP:00053798.0CGA, INSL3, NR5A1, RXFP2

Publications for Anorchia

About this section

Articles related to Anorchia:

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

Variations for Anorchia

About this section

Expression for genes affiliated with Anorchia

About this section
Search GEO for disease gene expression data for Anorchia.

Pathways for genes affiliated with Anorchia

About this section

Pathways related to Anorchia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.5CGA, INSL3, RXFP2

GO Terms for genes affiliated with Anorchia

About this section

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

idNameGO IDScoreTop Affiliating Genes
1peptide hormone processingGO:00164869.5CGA, CGB5
2negative regulation of cell proliferationGO:00082859.3INSL3, RXFP2
3oocyte maturationGO:00015569.3INSL3, RXFP2
4cell-cell signalingGO:00072678.4CGA, CGB5, NR5A1

Sources for Anorchia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet