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:
42NIH Rare Diseases, 61UMLS, 44Novoseek, 48Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Aliases & Descriptions for Anorchia:

Name: Anorchia 42
Testicular Regression Syndrome 42 44 48 61
Rothmund-Thomson Syndrome 42 61
Trs 42 48
Idiopathic Interstitial Pneumonia, Not Otherwise Specified 61
Embryonic Testicular Regression Syndrome 48
Idiopathic Interstitial Pneumonias 61
Idiopathic Interstitial Pneumonia 42
Poikiloderma of Rothmund-Thomson 42
Xy Gonadal Dysgenesis Syndrome 42
 
Congenital Absence of Testes 42
Vanishing Testes Syndrome 48
Vanishing Testis Syndrome 48
Hamman-Rich Syndrome 61
Absence of Testes 42
Vanishing Testes 42
Empty Scrotum 42
Etrs 48
Rts 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Orphanet48 983
MESH via Orphanet34 C537770
ICD10 via Orphanet26 Q55.0
UMLS via Orphanet62 C0266427, C0405582, C1261504

Summaries for Anorchia

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Wikipedia:64 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:

 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:

Search ClinicalTrials for Anorchia

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:

5
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
1dmrt449.9NR5A1, SRY
2dhea449.6NR5A1, CGB5
311-ketotestosterone449.6CGB5, CGA
4oestriol449.5CGB5, CGA
5organon449.5CGA, CGB5
6trilostane44 1110.5CGA, CGB5
7estradiol benzoate449.5CGA, CGB5
8leuprolide44 60 28 1112.5CGA, CGB5
917-hydroxypregnenolone449.5CGB5, CGA
10dihydroprogesterone449.5CGB5, CGA
118-bromo-cyclic amp449.5CGB5, CGA
12cetrorelix44 28 1111.5CGB5, CGA
13leuprolide acetate449.5CGB5, CGA
14buserelin44 28 1111.5CGB5, CGA
15ctp449.5CGA, CGB5
16lutein449.5CGB5, CGA
17clomiphene citrate449.5CGA, CGB5
1817-hydroxyprogesterone44 2410.4CGA, CGB5
19percoll449.4CGA, CGB5
20ifosfamide44 1110.4CGB5, CGA
21naloxone44 28 50 1112.4CGB5, CGA
22prostaglandin f2alpha449.4CGA, CGB5
23phenylephrine44 28 24 1112.3CGB5, CGA
24vinblastine44 50 1111.1CGA, CGB5
25dihydrotestosterone44 28 24 1112.1CGA, SRY, CGB5
2622r-hydroxycholesterol44 2810.1CGA, CGB5, NR5A1
27(+-)-pgf2-alpha449.1CGA, CGB5, NR5A1
2825-hydroxycholesterol44 28 2411.1CGA, CGB5, NR5A1
29dehydroepiandrosterone sulfate449.0CGB5, CGA, NR5A1
3017beta-hydroxysteroid449.0NR5A1, CGA, CGB5
31propranolol44 28 50 24 1113.0CGA, CGB5
32prostaglandin449.0CGA, NR5A1, CGB5
33gnrh449.0CGB5, NR5A1, CGA
34ribonucleic acid448.9CGA, NR5A1, CGB5
35actinomycin d448.9NR5A1, CGA, CGB5
36forskolin44 50 1110.9CGA, CGB5, NR5A1
37pge2448.8CGA, CGB5, NR5A1
38dbc-amp448.8CGA, CGB5
39adenylate448.8CGA, NR5A1, CGB5
40cycloheximide448.7CGA, CGB5, NR5A1
41diethylstilbestrol44 28 1110.7CGB5, CGA, NR5A1, INSL3
423beta-hydroxysteroid448.7CGB5, INSL3, NR5A1, CGA
43progesterone44 28 60 24 1112.6NR5A1, CGA, CGB5
44estradiol44 24 1110.6CGB5, CGA, NR5A1, SRY
45alanine448.5RXFP2, SRY, CGA, INSL3
46estrogen448.5NR5A1, CGA, INSL3, CGB5
47serine448.2CGB5, CGA, NR5A1, SRY
48testosterone44 60 24 1111.2CGB5, CGA, SRY, NR5A1, INSL3
49steroid448.2INSL3, SRY, NR5A1, CGA, CGB5
50cyclic amp44 249.0INSL3, RXFP2, NR5A1, CGA, CGB5

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

Sources for Anorchia

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2CDC
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet