MCID: ANR018
MIFTS: 35

Anorchia malady

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

Aliases & Classifications for Anorchia

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Sources:
46NIH Rare Diseases, 52Orphanet, 66UMLS, 29ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Anorchia:

Name: Anorchia 46
Testicular Agenesis 46 52
Bilateral Anorchia 46 52
Congenital Absence of Testes 46
 
Absence of Testes 46
Absent Testicle 66
Empty Scrotum 46

Classifications:



External Ids:

Orphanet52 ORPHA325124
ICD10 via Orphanet29 Q55.0

Summaries for Anorchia

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Wikipedia:69 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 testicular regression syndrome and female reproductive endometrioid cancer, and has symptoms including Array, Array and Array. An important gene associated with Anorchia is SRY (Sex Determining Region Y), and among its related pathways is G alpha (s) signalling events. Affiliated tissues include testes, testis and uterus, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Related Diseases for Anorchia

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Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Symptoms for Anorchia

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Symptoms:

 52 (show all 11)
  • hypoplasia of the uterus
  • absent external genitalia
  • micropenis
  • ambiguous genitalia
  • gonadotropin excess
  • urethrovaginal fistula
  • aplasia of the testes
  • vanishing testis
  • abnormal vas deferens morphology
  • decreased serum testosterone level
  • urogenital sinus anomaly

Drugs & Therapeutics for Anorchia

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
OxandrolonePhase 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

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

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Anatomical Context for Anorchia

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MalaCards organs/tissues related to Anorchia:

34
Testes, Testis, Uterus, Bone

Animal Models for Anorchia or affiliated genes

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MGI Mouse Phenotypes related to Anorchia:

39
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.1CGA, INSL3, NR5A1, RXFP2
2MP:00053898.0CGA, INSL3, NR5A1, RXFP2

Publications for Anorchia

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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
Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment. (17095345)
2006
10
Congenital bilateral anorchia: hormonal, molecular and imaging study of a case. (17183475)
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
Anorchia. A variety of the "empty scrotum". (4396259)
1971
36
Bilateral anorchia with sickle-C disease. (5539785)
1971
37
Effect of testosterone on growth hormone secretion in patients with anorchia and delayed puberty. (4315480)
1970
38
HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism. (4394269)
1970
39
Bilateral anorchia with persistent testosterone production. (5410219)
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

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Expression for genes affiliated with Anorchia

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Search GEO for disease gene expression data for Anorchia.

Pathways for genes affiliated with Anorchia

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Pathways related to Anorchia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.6CGA, INSL3, RXFP2

GO Terms for genes affiliated with Anorchia

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

idNameGO IDScoreTop Affiliating Genes
1adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00071939.8INSL3, RXFP2
2oocyte maturationGO:00015569.5INSL3, RXFP2
3positive regulation of male gonad developmentGO:20000209.4NR5A1, SRY
4positive regulation of cAMP biosynthetic processGO:00308199.4INSL3, RXFP2
5cell-cell signalingGO:00072678.7CGA, INSL3, NR5A1
6male gonad developmentGO:00085848.2INSL3, NR5A1, RXFP2, SRY

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.2NR5A1, SRY
2hormone activityGO:00051799.2CGA, INSL3

Sources for Anorchia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet