TRS
MCID: ANR018
MIFTS: 55

Anorchia (TRS) malady

Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases categories
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Summaries for Anorchia

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Wikipedia:65 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 regression syndrome, is related to cryptorchidism and gynecomastia, and has symptoms including ambiguous genitalia, male pseudohermaphrodism/lack of virilisation and uterine/uterus/fallopian tubes anomalies. 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:46 273250

Aliases & Classifications for Anorchia

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 62UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
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Anorchia, Aliases & Descriptions:

Name: Anorchia 42
Testicular Regression Syndrome 42 44 48 46 62
Xy Gonadal Dysgenesis Syndrome 42 62
Vanishing Testes 42 62
Trs 42 48
Embryonic Testicular Regression Syndrome 48
 
Congenital Absence of Testes 42
Vanishing Testis Syndrome 48
Vanishing Testes Syndrome 48
Absence of Testes 42
Empty Scrotum 42
Etrs 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
testicular regression syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

OMIM46 273250
MESH via Orphanet35 C537770
ICD10 via Orphanet26 Q55.0
UMLS via Orphanet63 C0266427, C0405582, C1261504

Related Diseases for Anorchia

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

(show top 50)    (show all 149)
idRelated DiseaseScoreTop Affiliating Genes
1cryptorchidism30.6RXFP2, INSL3
2gynecomastia30.1SRY, CGA, CGB5
3hypogonadism29.6NR5A1, CGA, CGB5
4thyroiditis10.6
5hermaphroditism10.4SRY
646xy sex reversal 310.4NR5A1
7anencephaly10.4CGA
8cerebellar degeneration10.4
9paraneoplastic cerebellar degeneration10.4
10premature ejaculation10.3
11neuronitis10.3
12personality disorder10.3
13testicular disease10.2CGA, INSL3
14luteoma10.2SRY, CGA
1546,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.2SRY, NR5A1
16gonadal dysgenesis10.2SRY, NR5A1
17klinefelter's syndrome10.2CGA, NR5A1
18androgen insensitivity syndrome10.2SRY, CGA
19schizophrenia10.2
20autism spectrum disorder10.2
21mitochondrial disorders10.2
22turner syndrome10.2SRY, CGA
23pseudohermaphroditism10.2
24congenital adrenal hyperplasia10.2NR5A1, SRY
25abrikosov's tumor10.1CGA, NR5A1
26male infertility10.1CGA, SRY
27trichotillomania10.1
28borderline personality disorder10.1
29pain disorder10.1
30mood disorder10.1
31prolactinoma10.1CGA, NR5A1
32pontocerebellar hypoplasia10.1
33placental site trophoblastic tumor10.1CGA, CGB5
34trophoblastic neoplasm10.1CGA, CGB5
35germinoma10.0CGA, CGB5
36thyroid hurthle cell carcinoma10.0RXFP2, INSL3
37ovarian cyst10.0CGA, CGB5
38gestational trophoblastic tumor10.0CGA, CGB5
39ovarian hyperstimulation syndrome10.0CGB5, CGA
40ectopic pregnancy10.0CGA, CGB5
41oligospermia10.0CGB5, CGA
42hyperprolactinemia10.0CGA, CGB5
43precocious puberty10.0CGB5, CGA
44endometriosis10.0NR5A1, CGA
45pregnancy loss10.0CGA, CGB5
46gestational trophoblastic neoplasm10.0CGA, CGB5
47polycystic ovary syndrome10.0CGA, CGB5
48neural tube defects10.0CGB5, CGA
49teratoma10.0CGA, CGB5
50pituitary adenoma10.0CGA, NR5A1

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Symptoms for Anorchia

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Symptoms by clinical synopsis from OMIM:

273250

Clinical features from OMIM:

273250

Symptoms:

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

HPO human phenotypes related to Anorchia:

(show all 9)
id Description Frequency HPO Source Accession
1 abnormality of female internal genitalia hallmark (90%) HP:0000008
2 abnormality of male internal genitalia hallmark (90%) HP:0000022
3 abnormality of the testis hallmark (90%) HP:0000035
4 male pseudohermaphroditism hallmark (90%) HP:0000037
5 ambiguous genitalia hallmark (90%) HP:0000062
6 decreased fertility hallmark (90%) HP:0000144
7 hypoplasia of penis hallmark (90%) HP:0008736
8 abnormality of the face occasional (7.5%) HP:0000271
9 abnormal internal genitalia HP:0000812

Drugs & Therapeutics for Anorchia

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Drug clinical trials:

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Genetic Tests for Anorchia

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Anatomical Context for Anorchia

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MalaCards organs/tissues related to Anorchia:

32
Testes, Testis, Uterus, Breast

Animal Models for Anorchia or affiliated genes

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MGI Mouse Phenotypes related to Anorchia:

36
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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Articles related to Anorchia:

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

Variations for Anorchia

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Expression for genes affiliated with Anorchia

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Expression patterns in normal tissues for genes affiliated with Anorchia

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Pathways for genes affiliated with Anorchia

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Compounds for genes affiliated with Anorchia

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Compounds related to Anorchia according to GeneCards/GeneDecks:

(show top 50)    (show all 61)
idCompoundScoreTop Affiliating Genes
1dmrt449.9SRY, NR5A1
211-ketotestosterone449.6CGB5, CGA
3oestriol449.5CGB5, CGA
4organon449.5CGB5, CGA
5dhea449.5CGB5, NR5A1
6trilostane44 1110.5CGB5, CGA
7estradiol benzoate449.5CGB5, CGA
817-hydroxypregnenolone449.5CGA, CGB5
9leuprolide44 61 28 1112.5CGA, CGB5
10dihydroprogesterone449.5CGB5, CGA
118-bromo-cyclic amp449.5CGB5, CGA
12cetrorelix44 28 1111.5CGB5, CGA
13buserelin44 28 1111.5CGB5, CGA
14leuprolide acetate449.5CGB5, CGA
15ctp449.5CGB5, CGA
16lutein449.5CGB5, CGA
17clomiphene citrate449.5CGA, CGB5
1817-hydroxyprogesterone44 2410.4CGB5, CGA
19percoll449.4CGB5, CGA
20ifosfamide44 1110.4CGB5, CGA
21naloxone44 28 50 1112.4CGB5, CGA
22prostaglandin f2alpha449.3CGB5, CGA
23phenylephrine44 28 24 1112.2CGB5, CGA
24dbc-amp449.1CGB5, CGA
25dihydrotestosterone44 28 24 1112.1SRY, CGA, CGB5
2622r-hydroxycholesterol44 2810.1NR5A1, CGA, CGB5
27(+-)-pgf2-alpha449.0NR5A1, CGA, CGB5
2825-hydroxycholesterol44 28 2411.0CGB5, CGA, NR5A1
29dehydroepiandrosterone sulfate449.0NR5A1, CGA, CGB5
3017beta-hydroxysteroid449.0NR5A1, CGA, CGB5
31vinblastine44 50 1111.0CGB5, CGA
32prostaglandin449.0CGB5, CGA, NR5A1
33gnrh449.0NR5A1, CGA, CGB5
34ribonucleic acid448.9CGB5, CGA, NR5A1
35actinomycin d448.9CGB5, CGA, NR5A1
36forskolin44 50 1110.9NR5A1, CGA, CGB5
37pge2448.9NR5A1, CGA, CGB5
38propranolol44 28 50 24 1112.8CGB5, CGA
39adenylate448.8CGB5, CGA, NR5A1
40cycloheximide448.8NR5A1, CGA, CGB5
41diethylstilbestrol44 28 1110.7CGB5, CGA, NR5A1, INSL3
423beta-hydroxysteroid448.7CGB5, CGA, NR5A1, INSL3
43progesterone44 28 61 24 1112.6NR5A1, CGA, CGB5
44estradiol44 24 1110.6CGB5, CGA, NR5A1, SRY
45alanine448.5INSL3, RXFP2, SRY, CGA
46estrogen448.5INSL3, NR5A1, CGA, CGB5
47serine448.4SRY, NR5A1, CGA, CGB5
48testosterone44 61 24 1111.2INSL3, SRY, NR5A1, CGA, CGB5
49steroid448.2CGB5, CGA, NR5A1, SRY, INSL3
50cyclic amp44 249.0CGB5, CGA, NR5A1, RXFP2, INSL3

GO Terms for genes affiliated with Anorchia

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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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Sources for Anorchia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet