TRS
MCID: ANR018
MIFTS: 55

Anorchia (TRS) malady

Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories

Summaries for Anorchia

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Anorchia (or anorchism) is an XY Disorder of Sex Development in which individuals have both testes... more...

MalaCards: Anorchia, also known as testicular regression syndrome, is related to cryptorchidism and gynecomastia, and has symptoms including male internal genitalia anomaly/deferent ducts agenesis/ectopy/duplication, male pseudohermaphrodism/lack of virilisation and ambiguous genitalia. An important gene associated with Anorchia is INSL3 (insulin-like 3 (Leydig cell)), and among its related pathways are Peptide hormone metabolism and Peptide ligand-binding receptors. The compounds dmrt and 11-ketotestosterone have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and uterus, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Description from OMIM:48 273250

Aliases & Classifications for Anorchia

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44NIH Rare Diseases, 46Novoseek, 50Orphanet, 48OMIM, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
testicular regression syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


Aliases & Descriptions:

anorchia 44
testicular regression syndrome 44 46 50 48
trs 44 50
embryonic testicular regression syndrome 50
xy gonadal dysgenesis syndrome 44
congenital absence of testes 44
vanishing testis syndrome 50
vanishing testes syndrome 50
absence of testes 44
vanishing testes 44
empty scrotum 44
etrs 50


External Ids:

SNOMED-CT via Orphanet60 371015003, 53599007
OMIM48 273250
ICD10 via Orphanet27 Q55.0
UMLS via Orphanet64 C0266427, C0405582, C1261504
MESH via Orphanet37 C537770

Related Diseases for Anorchia

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18GeneCards, 19GeneDecks
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Diseases related to Anorchia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 150)
idRelated DiseaseScoreTop Affiliating Genes
1cryptorchidism30.3INSL3, RXFP2
2gynecomastia30.3SRY, CGA, CGB5
3hypogonadism29.8CGA, NR5A1, CGB5
4thyroiditis10.6
5cerebellar degeneration10.4
6paraneoplastic cerebellar degeneration10.4
7neuronitis10.2
8premature ejaculation10.2
9personality disorder10.2
10schizophrenia10.2
11mitochondrial disorders10.2
12pseudohermaphroditism10.1
13hermaphroditism10.1SRY
1446xy sex reversal 310.1NR5A1
15anencephaly10.1CGA
16borderline personality disorder10.1
17pain disorder10.1
18autism spectrum disorder10.1
19mood disorder10.1
20testicular disease10.1INSL3, CGA
21luteoma10.1CGA, SRY
22pontocerebellar hypoplasia10.1
2346,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0SRY, NR5A1
24gonadal dysgenesis10.0NR5A1, SRY
25klinefelter's syndrome10.0NR5A1, CGA
26androgen insensitivity syndrome10.0SRY, CGA
27turner syndrome10.0SRY, CGA
28congenital adrenal hyperplasia10.0SRY, NR5A1
29abrikosov's tumor10.0NR5A1, CGA
30male infertility10.0SRY, CGA
31prolactinoma10.0NR5A1, CGA
32placental site trophoblastic tumor10.0CGB5, CGA
33trophoblastic neoplasm10.0CGA, CGB5
34germinoma10.0CGA, CGB5
35thyroid cancer10.0INSL3, RXFP2
36gestational trophoblastic tumor10.0CGA, CGB5
37ovarian cyst10.0CGB5, CGA
38ovarian hyperstimulation syndrome10.0CGA, CGB5
39ectopic pregnancy10.0CGA, CGB5
40oligospermia10.0CGA, CGB5
41hyperprolactinemia10.0CGB5, CGA
42precocious puberty10.0CGA, CGB5
43endometriosis10.0NR5A1, CGA
44pregnancy loss10.0CGA, CGB5
45gestational trophoblastic neoplasm10.0CGB5, CGA
46polycystic ovary syndrome10.0CGA, CGB5
47neural tube defects10.0CGB5, CGA
48teratoma10.0CGA, CGB5
49pituitary adenoma10.0CGA, NR5A1
50hyperthyroidism10.0CGA, CGB5

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Symptoms for Anorchia

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

273250

Clinical features from OMIM:

273250

Symptoms:

50 (show all 10)
  • male internal genitalia anomaly/deferent ducts agenesis/ectopy/duplication
  • male pseudohermaphrodism/lack of virilisation
  • ambiguous genitalia
  • sterility/hypofertility
  • uterine/uterus/fallopian tubes anomalies
  • micropenis/small penis/agenesis
  • face/facial anomalies
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • late puberty/hypogonadism/hypogenitalism
  • autosomal recessive inheritance

Drugs & Therapeutics for Anorchia

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Anorchia

Drug clinical trials:

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Search NIH Clinical Center for Anorchia

Search CenterWatch for Anorchia

Genetic Tests for Anorchia

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Anatomical Context for Anorchia

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34MalaCards
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MalaCards organs/tissues related to Anorchia:

34
Testes, Testis, Uterus, Breast

Animal Models for Anorchia or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Anorchia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6RXFP2, SRY, NR5A1, CGA, INSL3
2MP:00053797.3CGA, NR5A1, SRY, RXFP2, INSL3

Publications for Anorchia

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Sources:
53PubMed
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Articles related to Anorchia:

(show all 41)
idTitleAuthorsYear
1
A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia. (24035132)
2014
2
Is surgical exploration necessary in bilateral anorchia? (23079081)
2013
3
Unfused crossed renal ectopia with ipsilateral anorchia-a rare entity. (24179935)
2013
4
Anorchia masked by septo-optic dysplasia. (22196414)
2012
5
Clinical, biological and genetic analysis of anorchia in 26 boys. (21853106)
2011
6
Undetectable AMH at 3 days of age: a clue to bilateral anorchia. (20801110)
2010
7
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. (17940071)
2007
8
Congenital bilateral anorchia: hormonal, molecular and imaging study of a case. (17183475)
2006
9
Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment. (17095345)
2006
10
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. (15579790)
2004
11
Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia. (15286448)
2004
12
Is bilateral congenital anorchia genetically determined? (10584191)
1999
13
A genotypic male with anorchia in conjunction with isolated idiopathic hypogonadotropic hypogonadism. (10573004)
1999
14
Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases. (8893097)
1996
15
Bilateral congenital anorchia in three siblings. (8200172)
1994
16
PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. (8435900)
1993
17
Anorchia associated with gonadotropin deficiency. (8266617)
1993
18
Congenital anorchia: natural history and treatment. (1427642)
1992
19
Depot testosterone in boys with anorchia or gonadotrophin deficiency: effect on growth rate and adult height. (2001104)
1991
20
Re: Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. (3981729)
1985
21
Somatomedin response to testosterone stimulation in children with male pseudohermaphroditism, cryptorchidism, anorchia, or micropenis. (2858491)
1985
22
Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. (6236305)
1984
23
Bilateral anorchia. (7185833)
1982
24
Sex hormone-binding globulin response to human chorionic gonadotropin stimulation in children with cryptorchidism, anorchia, male pseudohermaphroditism, and micropenis. (6120946)
1982
25
Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development. (7195543)
1981
26
Treatment of anorchia with oral testosterone undecanoate: pharmacodynamics and clinical effectiveness. (6776754)
1980
27
Circulating gonadotropin pattern in anorchia syndrome. Response to treatment. (6775612)
1980
28
Anorchia and persistent MA1llerian duct: a variant of the embryonic testicular regression syndrome. (122413)
1978
29
Transplantation of a human testis for anorchia. (680196)
1978
30
Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. (786507)
1976
31
Familial congenital anorchia. (239779)
1975
32
Cone-shaped epiphyses in the distal phalanges. Case report of a child with anorchia. (4404981)
1972
33
Bilateral anorchia: discordance in monozygotic twins. (5173161)
1971
34
Bilateral anorchia with sickle-C disease. (5539785)
1971
35
Anorchia. A variety of the "empty scrotum". (4396259)
1971
36
HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism. (4394269)
1970
37
Bilateral anorchia with persistent testosterone production. (5410219)
1970
38
Effect of testosterone on growth hormone secretion in patients with anorchia and delayed puberty. (4315480)
1970
39
Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndrome of rudimentary testes. (13867602)
1962
40
Monorchia (congenital unilateral anorchia). (13304302)
1956
41
Congenital Absence of Testes (Anorchia). (17866999)
1933

Variations for Anorchia

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Expression for genes affiliated with Anorchia

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Anorchia

Search GEO for disease gene expression data for Anorchia.

Pathways for genes affiliated with Anorchia

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Sources:
51PathCards, 56Reactome, 39NCBI BioSystems Database, 31KEGG
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Compounds for genes affiliated with Anorchia

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Sources:
46Novoseek, 12DrugBank, 62Tocris Bioscience, 30IUPHAR, 25HMDB, 52PharmGKB
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Compounds related to Anorchia according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1dmrt469.9SRY, NR5A1
211-ketotestosterone469.6CGB5, CGA
3oestriol469.5CGB5, CGA
4organon469.5CGB5, CGA
5dhea469.5CGB5, NR5A1
6trilostane46 1210.5CGB5, CGA
7estradiol benzoate469.5CGB5, CGA
817-hydroxypregnenolone469.5CGA, CGB5
9leuprolide46 62 30 1212.5CGA, CGB5
10dihydroprogesterone469.5CGB5, CGA
118-bromo-cyclic amp469.5CGB5, CGA
12cetrorelix46 30 1211.5CGB5, CGA
13buserelin46 30 1211.5CGB5, CGA
14leuprolide acetate469.5CGB5, CGA
15ctp469.5CGB5, CGA
16lutein469.5CGB5, CGA
17clomiphene citrate469.5CGA, CGB5
1817-hydroxyprogesterone46 2510.4CGB5, CGA
19percoll469.4CGB5, CGA
20ifosfamide46 1210.4CGB5, CGA
21naloxone46 30 52 1212.4CGB5, CGA
22prostaglandin f2alpha469.3CGB5, CGA
23phenylephrine46 30 25 1212.2CGB5, CGA
24dbc-amp469.1CGB5, CGA
25dihydrotestosterone46 30 25 1212.1SRY, CGA, CGB5
2622r-hydroxycholesterol46 3010.1NR5A1, CGA, CGB5
27(+-)-pgf2-alpha469.0NR5A1, CGA, CGB5
2825-hydroxycholesterol46 30 2511.0CGB5, CGA, NR5A1
29dehydroepiandrosterone sulfate469.0NR5A1, CGA, CGB5
3017beta-hydroxysteroid469.0NR5A1, CGA, CGB5
31vinblastine46 52 1211.0CGB5, CGA
32prostaglandin469.0CGB5, CGA, NR5A1
33gnrh469.0NR5A1, CGA, CGB5
34ribonucleic acid468.9CGB5, CGA, NR5A1
35actinomycin d468.9CGB5, CGA, NR5A1
36forskolin46 52 1210.9NR5A1, CGA, CGB5
37pge2468.9NR5A1, CGA, CGB5
38propranolol46 30 52 25 1212.8CGB5, CGA
39adenylate468.8CGB5, CGA, NR5A1
40cycloheximide468.8NR5A1, CGA, CGB5
41diethylstilbestrol46 30 1210.7CGB5, CGA, NR5A1, INSL3
423beta-hydroxysteroid468.7CGB5, CGA, NR5A1, INSL3
43progesterone46 30 62 25 1212.6NR5A1, CGA, CGB5
44estradiol46 25 1210.6CGB5, CGA, NR5A1, SRY
45alanine468.5INSL3, RXFP2, SRY, CGA
46estrogen468.5INSL3, NR5A1, CGA, CGB5
47serine468.4SRY, NR5A1, CGA, CGB5
48testosterone46 62 25 1211.2INSL3, SRY, NR5A1, CGA, CGB5
49steroid468.2CGB5, CGA, NR5A1, SRY, INSL3
50cyclic amp46 259.0CGB5, CGA, NR5A1, RXFP2, INSL3

GO Terms for genes affiliated with Anorchia

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17Gene Ontology
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Biological processes related to Anorchia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:20000209.6NR5A1, SRY
2oocyte maturationGO:0015569.4RXFP2, INSL3
3adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:0071939.4RXFP2, INSL3
4positive regulation of cAMP biosynthetic processGO:0308199.1RXFP2, INSL3
5male gonad developmentGO:0085849.0NR5A1, RXFP2, INSL3
6cell-cell signalingGO:0072678.6INSL3, NR5A1, CGA

Molecular functions related to Anorchia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:0051799.2CGA, INSL3
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.2NR5A1, SRY

Products for genes affiliated with Anorchia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anorchia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet