MCID: ANR018
MIFTS: 36

Anorchia malady

Categories: Rare diseases, Reproductive diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Anorchia

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Sources:
31ICD10 via Orphanet, 48NIH Rare Diseases, 54Orphanet, 68UMLS
See all MalaCards sources

Aliases & Descriptions for Anorchia:

Name: Anorchia 48
Testicular Agenesis 48 54
Bilateral Anorchia 48 54
Congenital Absence of Testes 48
 
Absence of Testes 48
Absent Testicle 68
Empty Scrotum 48

Classifications:



External Ids:

Orphanet54 ORPHA325124
ICD10 via Orphanet31 Q55.0

Summaries for Anorchia

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Wikipedia:71 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 agenesis, is related to testicular regression syndrome and intraventricular meningioma, and has symptoms including Array, Array and Array. An important gene associated with Anorchia is SRY (Sex Determining Region Y), and among its related pathways are Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors and G alpha (s) signalling events. Affiliated tissues include testes, testis and uterus.

Related Diseases for Anorchia

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

(show all 34)
idRelated DiseaseScoreTop Affiliating Genes
1testicular regression syndrome11.2
2intraventricular meningioma10.1CGA, SRY
38p23.1 duplication syndrome10.1NR5A1, SRY
4congenital articular rigidity10.1CGA, SRY
5abl1 kd-related altered drug metabolism10.1NR5A1, SRY
6capillary disease10.1CGA, SRY
7renal-hepatic-pancreatic dysplasia10.1CGA, INSL3
8malignant teratocarcinosarcoma10.1CGA, CGB5
9autosomal dominant optic atrophy and late-onset deafness10.1NR5A1, SRY
10microcephaly, seizures, and developmental delay10.1CGA, CGB5
11deafness, autosomal recessive 5110.1NR5A1, SRY
12parameningeal embryonal rhabdomyosarcoma10.0CGA, CGB5
13acute gonococcal salpingitis10.0NR5A1, SRY
14jackson-weiss syndrome10.0CGB5, NR5A1
15farmer's lung10.0NR5A1, SRY
1646 xx gonadal dysgenesis10.0NR5A1, SRY
17capillary lymphangioma10.0NR5A1, SRY
18cryptorchidism10.0
19pseudohermaphroditism10.0
20splenic disease10.0CGA, INSL3, SRY
21deafness, autosomal dominant 710.0NR5A1, SRY
22ovarian mucinous cystadenocarcinoma10.0CGA, CGB5
23cone dystrophy9.9INSL3, NR5A1, SRY
24benign essential hypertension9.9INSL3, NR5A1, SRY
25hypospadias 1, x-linked9.9CGA, NR5A1, SRY
26epidural neoplasm9.9CGB5, INSL3, NR5A1
27avoidant personality disorder9.8NR5A1, SRY
28fibrous dysplasia9.8INSL3, RXFP2
29hypogonadism9.7
30conjunctivitis9.7
31hypogonadotropism9.7
32breast myoepithelial neoplasm9.6CGA, CGB5, INSL3, RXFP2
33diabetes mellitus, insulin-resistant, with acanthosis nigricans9.4CGA, CGB5, INSL3, NR5A1, RXFP2
34antisynthetase syndrome9.2CGA, CGB5, INSL3, NR5A1, RXFP2, SRY

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Symptoms & Phenotypes for Anorchia

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Human phenotypes related to Anorchia:

 54 64 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypoplasia of the uterus64 54 Frequent (79-30%) HP:0000013
2 absent external genitalia64 54 Very frequent (99-80%) HP:0000042
3 micropenis64 54 Very frequent (99-80%) HP:0000054
4 ambiguous genitalia64 54 Frequent (79-30%) HP:0000062
5 increased circulating gonadotropin level64 54 Very frequent (99-80%) HP:0000837
6 urethrovaginal fistula64 54 Frequent (79-30%) HP:0008716
7 aplasia of the testes54 Very frequent (99-80%)
8 vanishing testis64 54 Very frequent (99-80%) HP:0012870
9 abnormal vas deferens morphology64 54 Very frequent (99-80%) HP:0012872
10 decreased serum testosterone level64 54 Very frequent (99-80%) HP:0040171
11 urogenital sinus anomaly64 54 Frequent (79-30%) HP:0100779
12 absent testis64 HP:0010469

Drugs & Therapeutics for Anorchia

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Drugs for Anorchia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Oxandroloneapproved, investigationalPhase 11653-39-45878
Synonyms:
(1S,3aS,3bR,5aS,9aS,9bS,11aS)-1-hydroxy-1,9a,11a-trimethyl-2,3,3a,3b,4,5,5a,6,9,9b,10,11-dodecahydroindeno[4,5-h]isochromen-7-one
(4aS,4bS,6aS,7S,9aS,9bR,11aS)-7-hydroxy-4a,6a,7-trimethyltetradecahydroindeno[4,5-h]isochromen-2(1H)-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one
17-beta-hydroxy-17-methyl-2-oxa-androstan-3-one (9CI)
17beta-Hydroxy-17-methyl-2-oxa-5alpha-androstan-3-one
17beta-Hydroxy-17alpha-methyl-2-oxa-5alpha-androstan-3-one
2-Oxa-5alpha-androstan-3-one, 17beta-hydroxy-17-methyl- (8CI)
2-Oxaandrostan-3-one, 17-hydroxy-17-methyl-, (5-alpha,17-beta)- (9CI)
53-39-4
8075 C. B
8075 C. B.
8075 C.B
8075 C.B.
8075 CB
AC-14975
AC1L1LBY
Ambap53-39-4
Anavar
C07346
C19H30O3
CHEBI:7820
CHEMBL1200436
CID5878
D00462
DB00621
Dodecahydro-3-hydroxy-6-(hydroxy-methyl)-3,3a,6-trimethyl-1H-benz(e)indene-7-acetic acid delta-lactone
EINECS 200-172-9
 
HSDB 3373
LS-98540
Lonavar
MolPort-003-986-935
NSC 67068
OXANDROLONE
Ossandrolone
Ossandrolone [DCIT]
Oxandrin
Oxandrin (TN)
Oxandrin, Anavar, Oxandrolone
Oxandrolon
Oxandrolona
Oxandrolona [INN-Spanish]
Oxandrolone
Oxandrolone (JAN/USP/INN)
Oxandrolone [USAN:INN:BAN:JAN]
Oxandrolonum
Oxandrolonum [INN-Latin]
Protivar
Provitar
S1753_Selleck
SC 11585
SC-11585
TL8003512
UNII-7H6TM3CT4L
Vasorome
ZINC03813047
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 113168
3HormonesPhase 114415
4Hormone AntagonistsPhase 113180
5AndrogensPhase 11321
6Anabolic AgentsPhase 1513

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in InfantsActive, not recruitingNCT01048632Phase 1

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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:

36
Testes, Testis, Uterus, Bone

Publications for Anorchia

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Articles related to Anorchia:

(show all 42)
idTitleAuthorsYear
1
Mild Deficits of Cortical Bone in Young Adults With Klinefelter Syndrome or Anorchia Treated With Testosterone. (26186297)
2015
2
A multicenter, open-label, observational study of testosterone gel (1%) in the treatment of adolescent boys with klinefelter syndrome or anorchia. (24035132)
2014
3
Is surgical exploration necessary in bilateral anorchia? (23079081)
2013
4
Unfused crossed renal ectopia with ipsilateral anorchia-a rare entity. (24179935)
2013
5
Anorchia masked by septo-optic dysplasia. (22196414)
2012
6
Clinical, biological and genetic analysis of anorchia in 26 boys. (21853106)
2011
7
Undetectable AMH at 3 days of age: a clue to bilateral anorchia. (20801110)
2010
8
Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study. (17940071)
2007
9
Congenital bilateral anorchia: hormonal, molecular and imaging study of a case. (17183475)
2006
10
Bilateral anorchia in infancy: occurence of micropenis and the effect of testosterone treatment. (17095345)
2006
11
An analysis of the genetic factors involved in testicular descent in a cohort of 14 male patients with anorchia. (15579790)
2004
12
Lost and found testes: the importance of the hCG stimulation test and other testicular markers to confirm a surgical declaration of anorchia. (15286448)
2004
13
Is bilateral congenital anorchia genetically determined? (10584191)
1999
14
A genotypic male with anorchia in conjunction with isolated idiopathic hypogonadotropic hypogonadism. (10573004)
1999
15
Congenital bilateral anorchia: clinical, hormonal and imaging study in 12 cases. (8893097)
1996
16
Bilateral congenital anorchia in three siblings. (8200172)
1994
17
PCR analysis and sequencing of the SRY sex determining gene in four patients with bilateral congenital anorchia. (8435900)
1993
18
Anorchia associated with gonadotropin deficiency. (8266617)
1993
19
Congenital anorchia: natural history and treatment. (1427642)
1992
20
Depot testosterone in boys with anorchia or gonadotrophin deficiency: effect on growth rate and adult height. (2001104)
1991
21
Re: Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. (3981729)
1985
22
Somatomedin response to testosterone stimulation in children with male pseudohermaphroditism, cryptorchidism, anorchia, or micropenis. (2858491)
1985
23
Pitfalls in using human chorionic gonadotropin stimulation test to diagnose anorchia. (6236305)
1984
24
Sex hormone-binding globulin response to human chorionic gonadotropin stimulation in children with cryptorchidism, anorchia, male pseudohermaphroditism, and micropenis. (6120946)
1982
25
Bilateral anorchia. (7185833)
1982
26
Discordance of congenital bilateral anorchia in uniovular twins: 17 years of observations on growth and development. (7195543)
1981
27
Treatment of anorchia with oral testosterone undecanoate: pharmacodynamics and clinical effectiveness. (6776754)
1980
28
Circulating gonadotropin pattern in anorchia syndrome. Response to treatment. (6775612)
1980
29
Anorchia and persistent MA1llerian duct: a variant of the embryonic testicular regression syndrome. (122413)
1978
30
Transplantation of a human testis for anorchia. (680196)
1978
31
Congenital bilateral anorchia in childhood: a clinical, endocrine and therapeutic evaluation of twenty-one cases. (786507)
1976
32
Familial congenital anorchia. (239779)
1975
33
Cone-shaped epiphyses in the distal phalanges. Case report of a child with anorchia. (4404981)
1972
34
Anorchia. A variety of the "empty scrotum". (4396259)
1971
35
Bilateral anorchia with sickle-C disease. (5539785)
1971
36
Bilateral anorchia: discordance in monozygotic twins. (5173161)
1971
37
Effect of testosterone on growth hormone secretion in patients with anorchia and delayed puberty. (4315480)
1970
38
Bilateral anorchia with persistent testosterone production. (5410219)
1970
39
HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism. (4394269)
1970
40
Variants of embryonic testicular dysgenesis: bilateral anorchia and the syndrome of rudimentary testes. (13867602)
1962
41
Monorchia (congenital unilateral anorchia). (13304302)
1956
42
Congenital Absence of Testes (Anorchia). (17866999)
1933

Variations for Anorchia

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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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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:200002010.1NR5A1, SRY
2peptide hormone processingGO:001648610.1CGA, CGB5
3male gonad developmentGO:00085849.7NR5A1, RXFP2
4cell-cell signalingGO:00072679.0CGA, CGB5, INSL3, NR5A1
5regulation of transcription from RNA polymerase II promoterGO:00063578.4CGA, CGB5, NR5A1, SRY

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

idNameGO IDScoreTop Affiliating Genes
1hormone activityGO:000517910.0CGA, INSL3
2transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.4NR5A1, SRY

Sources for Anorchia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet