TRS
MCID: ANR018
MIFTS: 47

Anorchia (TRS) malady

Endocrine, Fetal, Reproductive categories

Summaries for Anorchia

Sources:
64Wikipedia, 47OMIM, 33MalaCards
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Wikipedia:64 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 gynecomastia and cryptorchidism, and has symptoms including autosomal recessive inheritance, late puberty/hypogonadism/hypogenitalism and small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia. An important gene associated with Anorchia is SRY (sex determining region Y), and among its related pathways are Relaxin receptors and Class A/1 (Rhodopsin-like receptors). The compounds estrogen and dmrt have been mentioned in the context of this disorder. Affiliated tissues include uterus, breast and testis, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Description from OMIM:47 273250

Aliases & Classifications for Anorchia

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 47OMIM, 26ICD10 via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Endocrine, Reproductive


Characteristics (Orphanet epidemiological data):

49
testicular regression syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

anorchia 43
testicular regression syndrome 43 45 49 47
trs 43 49
embryonic testicular regression syndrome 49
congenital absence of testes 43
vanishing testes syndrome 49
vanishing testis syndrome 49
xy gonadal agenesis 49
absence of testes 43
empty scrotum 43
etrs 49


External Ids:

OMIM47 273250
ICD10 via Orphanet26 Q55.0

Related Diseases for Anorchia

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 139)
idRelated DiseaseScoreTop Affiliating Genes
1gynecomastia30.2SRY, CGB5, CGA
2cryptorchidism30.1RXFP2, INSL3
3thyroid cancer30.1RXFP2, INSL3
4klinefelter's syndrome29.8CGA, NR5A1
5cerebellar degeneration10.4
6paraneoplastic cerebellar degeneration10.4
7premature ejaculation10.2
8mitochondrial disorders10.2
9borderline personality disorder10.1
10thyroid hormone resistance syndrome10.1
11pain disorder10.1
12autism spectrum disorder10.1
13colorectal cancer10.1
14encephalomyopathy10.1
15pseudohermaphroditism10.0SRY
16amenorrhea10.0SRY
17hermaphroditism10.0SRY
18thyroiditis10.0CGA
19anencephaly10.0CGA
20denys-drash syndrome10.0NR5A1
21varicocele10.0CGA
22hypopituitarism10.0CGA
23androgen insensitivity syndrome10.0SRY, CGA
24gonadal dysgenesis10.0SRY, NR5A1
25luteoma10.0CGA, SRY
2646,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0NR5A1, SRY
27testicular disease10.0CGA, INSL3
28turner syndrome10.0CGA, SRY
29congenital adrenal hyperplasia10.0SRY, NR5A1
30male infertility10.0SRY, CGA
31abrikosov's tumor10.0CGA, NR5A1
32obesity10.0INSL3, NR5A1
33adrenoleukodystrophy10.0NR5A1
34placental site trophoblastic tumor10.0CGB5, CGA
35trophoblastic neoplasm10.0CGB5, CGA
36ovarian cyst10.0CGB5, CGA
37gestational trophoblastic tumor10.0CGA, CGB5
38prolactinoma10.0NR5A1, CGA
39ectopic pregnancy10.0CGA, CGB5
40oligospermia10.0CGA, CGB5
41precocious puberty10.0CGA, CGB5
42pregnancy loss10.0CGA, CGB5
43gestational trophoblastic neoplasm10.0CGB5, CGA
44germinoma10.0CGA, CGB5
45polycystic ovary syndrome10.0CGB5, CGA
46hyperprolactinemia10.0CGB5, CGA
47ovarian hyperstimulation syndrome10.0CGA, CGB5
48dysgerminoma10.0SRY, CGA, CGB5
49neural tube defects10.0CGB5, CGA
50hyperandrogenism10.0CGB5, CGA, INSL3

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Clinical Features for Anorchia

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

273250

Clinical synopsis from OMIM:

273250

Symptoms:

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

Drugs & Therapeutics for Anorchia

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

Approved drugs:

Search CenterWatch for Anorchia

Drug clinical trials:

Search ClinicalTrials for Anorchia

Search NIH Clinical Center for Anorchia

Search CenterWatch for Anorchia

Genetic Tests for Anorchia

Anatomical Context for Anorchia

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Anorchia:

33
Uterus, Breast, Testis

Animal Models for Anorchia or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Anorchia:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6CGA, NR5A1, INSL3, SRY, RXFP2
2MP:00053797.3SRY, INSL3, NR5A1, CGA, RXFP2

Publications for Anorchia

Sources:
51PubMed
See all sources

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

Genetic Variations for Anorchia

Expression for genes affiliated with Anorchia

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG
See all sources

Pathways related to Anorchia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4INSL3, RXFP2
2
Hide members
8.6INSL3, CGA, RXFP2
3
Hide members
8.6INSL3, CGA, RXFP2

Compounds for genes affiliated with Anorchia

Sources:
45Novoseek, 11DrugBank, 60Tocris Bioscience, 29IUPHAR, 24HMDB, 50PharmGKB
See all sources

Compounds related to Anorchia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1estrogen4510.3NR5A1
2dmrt4510.0SRY, NR5A1
3dhea459.6NR5A1, CGB5
411-ketotestosterone459.6CGA, CGB5
5oestriol459.5CGB5, CGA
6organon459.5CGA, CGB5
7trilostane45 1110.5CGB5, CGA
8estradiol benzoate459.5CGB5, CGA
9leuprolide45 60 29 1112.5CGB5, CGA
1017-hydroxypregnenolone459.5CGB5, CGA
11dihydroprogesterone459.5CGB5, CGA
128-bromo-cyclic amp459.5CGB5, CGA
13cetrorelix45 29 1111.5CGB5, CGA
14buserelin45 29 1111.5CGA, CGB5
15leuprolide acetate459.5CGA, CGB5
16ctp459.5CGB5, CGA
17lutein459.5CGB5, CGA
18clomiphene citrate459.5CGB5, CGA
1917-hydroxyprogesterone45 2410.4CGB5, CGA
20percoll459.4CGB5, CGA
21ifosfamide45 1110.4CGB5, CGA
22naloxone45 50 29 1112.4CGB5, CGA
23prostaglandin f2alpha459.4CGA, CGB5
24phenylephrine45 29 11 2412.4CGB5, CGA
25vinblastine45 50 1111.3CGB5, CGA
26propranolol45 29 50 11 2413.2CGB5, CGA
27androstenedione45 2410.1CGB5, CGA
28dihydrotestosterone45 29 11 2412.1CGA, CGB5, SRY
2922r-hydroxycholesterol45 2910.1CGA, CGB5, NR5A1
30(+-)-pgf2-alpha459.1CGA, CGB5, NR5A1
3125-hydroxycholesterol45 29 2411.1NR5A1, CGB5, CGA
32dehydroepiandrosterone sulfate459.0NR5A1, CGB5, CGA
3317beta-hydroxysteroid459.0NR5A1, CGB5, CGA
34dbc-amp459.0CGB5, CGA
35prostaglandin459.0CGA, CGB5, NR5A1
36gnrh459.0CGA, CGB5, NR5A1
37ribonucleic acid458.9NR5A1, CGB5, CGA
38actinomycin d458.9CGA, CGB5, NR5A1
39pge2458.9NR5A1, CGB5, CGA
40bleomycin45 119.8CGB5, CGA
41adenylate458.8CGA, CGB5, NR5A1
42cycloheximide458.7NR5A1, CGB5, CGA
43estradiol45 11 2410.6CGA, CGB5, NR5A1, SRY
44diethylstilbestrol45 29 1110.6INSL3, NR5A1, CGB5, CGA
453beta-hydroxysteroid458.6INSL3, NR5A1, CGB5, CGA
46alanine458.5RXFP2, CGA, INSL3, SRY
47serine458.2CGA, CGB5, NR5A1, SRY
48testosterone45 60 11 2411.2CGA, CGB5, NR5A1, INSL3, SRY
49steroid458.2SRY, INSL3, NR5A1, CGB5, CGA
50cyclic amp45 249.0INSL3, NR5A1, CGB5, CGA, RXFP2

GO Terms for genes affiliated with Anorchia

Sources:
16Gene Ontology
See all sources

Biological processes related to Anorchia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:20000209.6SRY, NR5A1
2oocyte maturationGO:0015569.4RXFP2, INSL3
3adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:0071939.4RXFP2, INSL3
4positive regulation of cAMP biosynthetic processGO:0308199.1INSL3, RXFP2
5male gonad developmentGO:0085848.6SRY, RXFP2, NR5A1, INSL3
6cell-cell signalingGO:0072678.6CGA, NR5A1, INSL3

Molecular functions related to Anorchia according to GeneCards/GeneDecks:

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

Products for genes affiliated with Anorchia

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Anorchia

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet