MCID: ANR018
MIFTS: 48

Anorchia malady

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

Aliases & Classifications for Anorchia

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Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Anorchia, Aliases & Descriptions:

Name: Anorchia 41
Testicular Regression Syndrome 41 43 47 60
Rothmund-Thomson Syndrome 41 60
Trs 41 47
Idiopathic Interstitial Pneumonia, Not Otherwise Specified 60
Embryonic Testicular Regression Syndrome 47
Idiopathic Interstitial Pneumonias 60
Idiopathic Interstitial Pneumonia 41
Poikiloderma of Rothmund-Thomson 41
Xy Gonadal Dysgenesis Syndrome 41
 
Congenital Absence of Testes 41
Vanishing Testes Syndrome 47
Vanishing Testis Syndrome 47
Hamman-Rich Syndrome 60
Absence of Testes 41
Vanishing Testes 41
Empty Scrotum 41
Etrs 47
Rts 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
testicular regression syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Orphanet47 983
MESH via Orphanet34 C537770
ICD10 via Orphanet26 Q55.0
UMLS via Orphanet61 C0266427, C0405582, C1261504

Summaries for Anorchia

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Wikipedia:63 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 thyroid cancer, and has symptoms including abnormality of female internal genitalia, abnormality of male internal genitalia and abnormality of the testis. An important gene associated with Anorchia is RECQL4 (RecQ protein-like 4), and among its related pathways are Peptide hormone metabolism and Peptide ligand-binding receptors. The compounds dmrt and dhea 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.

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:

 47 (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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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:

31
Testes, Testis, Uterus

Animal Models for Anorchia or affiliated genes

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MGI Mouse Phenotypes related to Anorchia:

35
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 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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Clinvar genetic disease variations for Anorchia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)single nucleotide variantPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796

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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Compounds for genes affiliated with Anorchia

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Compounds related to Anorchia according to GeneCards Suite gene sharing:

(show top 50)    (show all 62)
idCompoundScoreTop Affiliating Genes
1dmrt439.9SRY, NR5A1
2dhea439.6NR5A1, CGB5
311-ketotestosterone439.6CGB5, CGA
4oestriol439.5CGB5, CGA
5organon439.5CGB5, CGA
6trilostane43 1210.5CGB5, CGA
7estradiol benzoate439.5CGB5, CGA
8leuprolide43 59 28 1212.5CGB5, CGA
917-hydroxypregnenolone439.5CGB5, CGA
10dihydroprogesterone439.5CGB5, CGA
11cetrorelix43 28 1211.5CGA, CGB5
128-bromo-cyclic amp439.5CGA, CGB5
13leuprolide acetate439.5CGA, CGB5
14buserelin43 28 1211.5CGA, CGB5
15ctp439.5CGB5, CGA
16lutein439.5CGB5, CGA
17clomiphene citrate439.5CGA, CGB5
18percoll439.4CGA, CGB5
1917-hydroxyprogesterone43 2410.4CGA, CGB5
20ifosfamide43 1210.4CGA, CGB5
21naloxone43 28 49 1212.4CGB5, CGA
22prostaglandin f2alpha439.4CGB5, CGA
23phenylephrine43 28 24 1212.3CGA, CGB5
24vinblastine43 49 1211.1CGA, CGB5
25dihydrotestosterone43 28 24 1212.1SRY, CGA, CGB5
2622r-hydroxycholesterol43 2810.1NR5A1, CGA, CGB5
27(+-)-pgf2-alpha439.1NR5A1, CGA, CGB5
2825-hydroxycholesterol43 28 2411.1CGB5, CGA, NR5A1
29dehydroepiandrosterone sulfate439.0NR5A1, CGA, CGB5
3017beta-hydroxysteroid439.0NR5A1, CGA, CGB5
31propranolol43 28 49 24 1213.0CGB5, CGA
32prostaglandin439.0NR5A1, CGA, CGB5
33gnrh439.0CGB5, CGA, NR5A1
34ribonucleic acid438.9CGB5, CGA, NR5A1
35actinomycin d438.9CGB5, CGA, NR5A1
36forskolin43 49 1210.9CGB5, CGA, NR5A1
37pge2438.8NR5A1, CGA, CGB5
38dbc-amp438.8CGB5, CGA
39adenylate438.8CGB5, CGA, NR5A1
40cycloheximide438.7CGB5, CGA, NR5A1
41diethylstilbestrol43 28 1210.7CGB5, CGA, NR5A1, INSL3
423beta-hydroxysteroid438.7CGB5, CGA, NR5A1, INSL3
43progesterone43 28 59 24 1212.6CGB5, CGA, NR5A1
44estradiol43 24 1210.6CGB5, CGA, NR5A1, SRY
45alanine438.5INSL3, RXFP2, SRY, CGA
46estrogen438.5INSL3, NR5A1, CGA, CGB5
47serine438.2SRY, NR5A1, CGA, CGB5
48testosterone43 59 24 1211.2INSL3, SRY, NR5A1, CGA, CGB5
49steroid438.2INSL3, SRY, NR5A1, CGA, CGB5
50cyclic amp43 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 Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:020000209.6NR5A1, SRY
2oocyte maturationGO:00015569.4RXFP2, INSL3
3adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00071939.4RXFP2, INSL3
4positive regulation of cAMP biosynthetic processGO:00308199.1RXFP2, INSL3
5male gonad developmentGO:00085849.0NR5A1, RXFP2, INSL3
6cell-cell signalingGO:00072678.6INSL3, NR5A1, CGA

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:00051799.2CGA, INSL3
2RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.2NR5A1, 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
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet