TRS
MCID: ANR018
MIFTS: 47

Anorchia (TRS) malady

Endocrine diseases, Fetal diseases, Reproductive diseases categories

Summaries for Anorchia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 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 thyroiditis 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 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 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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42NIH Rare Diseases, 44Novoseek, 48Orphanet, 46OMIM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
testicular regression syndrome:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Childhood


Aliases & Descriptions:

anorchia 42
testicular regression syndrome 42 44 48 46
trs 42 48
embryonic testicular regression syndrome 48
congenital absence of testes 42
vanishing testes syndrome 48
vanishing testis syndrome 48
absence of testes 42
empty scrotum 42
etrs 48


External Ids:

SNOMED-CT via Orphanet57 371015003, 53599007
OMIM46 273250
ICD10 via Orphanet26 Q55.0

Related Diseases for Anorchia

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17GeneCards, 18GeneDecks
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Diseases related to Anorchia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 151)
idRelated DiseaseScoreTop Affiliating Genes
1thyroiditis30.8CGA
2gynecomastia30.2CGA, CGB5, SRY
3pseudohermaphroditism30.1SRY
4cryptorchidism30.1RXFP2, INSL3
5thyroid cancer30.0RXFP2, INSL3
6hypogonadism29.7NR5A1, CGB5, CGA
7cerebellar disease10.2
8neuronitis10.2
9premature ejaculation10.2
10personality disorder10.2
11schizophrenia10.1
12mitochondrial disorders10.1
13borderline personality disorder10.0
14thyroid hormone resistance syndrome10.0
15pain disorder10.0
16autism spectrum disorder10.0
17mitochondrial encephalomyopathy10.0
18mood disorder10.0
19colorectal cancer10.0
20encephalomyopathy10.0
21amenorrhea10.0SRY
22hermaphroditism10.0SRY
23anencephaly10.0CGA
24denys-drash syndrome10.0NR5A1
25varicocele10.0CGA
26hypopituitarism10.0CGA
27androgen insensitivity syndrome10.0CGA, SRY
28gonadal dysgenesis10.0NR5A1, SRY
29luteoma10.0CGA, SRY
3046,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0NR5A1, SRY
31testicular disease10.0CGA, INSL3
32turner syndrome10.0SRY, CGA
33klinefelter's syndrome10.0NR5A1, CGA
34congenital adrenal hyperplasia10.0SRY, NR5A1
35male infertility10.0CGA, SRY
36abrikosov's tumor10.0CGA, NR5A1
37obesity10.0INSL3, NR5A1
38adrenoleukodystrophy10.0NR5A1
39placental site trophoblastic tumor10.0CGA, CGB5
40trophoblastic neoplasm10.0CGA, CGB5
41ovarian cyst10.0CGA, CGB5
42gestational trophoblastic tumor10.0CGA, CGB5
43prolactinoma10.0CGA, NR5A1
44ectopic pregnancy10.0CGB5, CGA
45oligospermia10.0CGA, CGB5
46precocious puberty10.0CGB5, CGA
47pregnancy loss10.0CGA, CGB5
48germinoma10.0CGA, CGB5
49gestational trophoblastic neoplasm10.0CGA, CGB5
50polycystic ovary syndrome10.0CGA, CGB5

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Clinical Features for Anorchia

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

273250

Clinical synopsis from OMIM:

273250

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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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

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Anatomical Context for Anorchia

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32MalaCards
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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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36MGI
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MGI Mouse Phenotypes related to Anorchia:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053897.6CGA, NR5A1, INSL3, SRY, RXFP2
2MP:00053797.3SRY, INSL3, NR5A1, CGA, RXFP2

Publications for Anorchia

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Genetic Variations for Anorchia

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Expression for genes affiliated with Anorchia

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1BioGPS, 15Gene 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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53Reactome, 29KEGG
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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

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Sources:
44Novoseek, 11DrugBank, 59Tocris Bioscience, 28IUPHAR, 24HMDB, 49PharmGKB
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Compounds related to Anorchia according to GeneCards/GeneDecks:

(show top 50)    (show all 55)
idCompoundScoreTop Affiliating Genes
1estrogen4410.3NR5A1
2dmrt4410.0SRY, NR5A1
3dhea449.6NR5A1, CGB5
411-ketotestosterone449.6CGA, CGB5
5oestriol449.5CGB5, CGA
6organon449.5CGA, CGB5
7trilostane44 1110.5CGB5, CGA
8estradiol benzoate449.5CGB5, CGA
9leuprolide44 59 28 1112.5CGB5, CGA
1017-hydroxypregnenolone449.5CGB5, CGA
11dihydroprogesterone449.5CGB5, CGA
128-bromo-cyclic amp449.5CGB5, CGA
13cetrorelix44 28 1111.5CGB5, CGA
14buserelin44 28 1111.5CGA, CGB5
15leuprolide acetate449.5CGA, CGB5
16ctp449.5CGB5, CGA
17lutein449.5CGB5, CGA
18clomiphene citrate449.5CGB5, CGA
1917-hydroxyprogesterone44 2410.4CGB5, CGA
20percoll449.4CGB5, CGA
21ifosfamide44 1110.4CGB5, CGA
22naloxone44 49 28 1112.4CGB5, CGA
23prostaglandin f2alpha449.4CGA, CGB5
24phenylephrine44 28 11 2412.4CGB5, CGA
25vinblastine44 49 1111.3CGB5, CGA
26propranolol44 28 49 11 2413.2CGB5, CGA
27androstenedione44 2410.1CGB5, CGA
28dihydrotestosterone44 28 11 2412.1CGA, CGB5, SRY
2922r-hydroxycholesterol44 2810.1CGA, CGB5, NR5A1
30(+-)-pgf2-alpha449.1CGA, CGB5, NR5A1
3125-hydroxycholesterol44 28 2411.1NR5A1, CGB5, CGA
32dehydroepiandrosterone sulfate449.0NR5A1, CGB5, CGA
3317beta-hydroxysteroid449.0NR5A1, CGB5, CGA
34dbc-amp449.0CGB5, CGA
35prostaglandin449.0CGA, CGB5, NR5A1
36gnrh449.0CGA, CGB5, NR5A1
37ribonucleic acid448.9NR5A1, CGB5, CGA
38actinomycin d448.9CGA, CGB5, NR5A1
39pge2448.9NR5A1, CGB5, CGA
40bleomycin44 119.8CGB5, CGA
41adenylate448.8CGA, CGB5, NR5A1
42cycloheximide448.7NR5A1, CGB5, CGA
43estradiol44 11 2410.6CGA, CGB5, NR5A1, SRY
44diethylstilbestrol44 28 1110.6INSL3, NR5A1, CGB5, CGA
453beta-hydroxysteroid448.6INSL3, NR5A1, CGB5, CGA
46alanine448.5RXFP2, CGA, INSL3, SRY
47serine448.2CGA, CGB5, NR5A1, SRY
48testosterone44 59 11 2411.2CGA, CGB5, NR5A1, INSL3, SRY
49steroid448.2SRY, INSL3, NR5A1, CGB5, CGA
50cyclic amp44 249.0INSL3, NR5A1, CGB5, CGA, RXFP2

GO Terms for genes affiliated with Anorchia

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16Gene Ontology
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Biological processes related to Anorchia according to GeneCards/GeneDecks:

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

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet