MCID: ANR018
MIFTS: 36

Anorchia malady

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

Aliases & Classifications for Anorchia

Aliases & Descriptions for Anorchia:

Name: Anorchia 50
Testicular Agenesis 50 56
Bilateral Anorchia 50 56
Congenital Absence of Testes 50
Absence of Testes 50
Absent Testicle 69
Empty Scrotum 50

Classifications:



External Ids:

Orphanet 56 ORPHA325124
ICD10 via Orphanet 34 Q55.0

Summaries for Anorchia

MalaCards based summary : Anorchia, also known as testicular agenesis, is related to testicular regression syndrome and intraventricular meningioma, and has symptoms including increased circulating gonadotropin level, decreased serum testosterone level and ambiguous genitalia. An important gene associated with Anorchia is SRY (Sex Determining Region Y), and among its related pathways/superpathways are G alpha (s) signalling events and Transcriptional regulation by the AP-2 (TFAP2) family of transcription factors. The drugs Oxandrolone and Anabolic Agents have been mentioned in the context of this disorder. Affiliated tissues include testes, testis and uterus.

Wikipedia : 71 Anorchia (or anorchism) is an XY disorder of sex development in which individuals have both testes... more...

Related Diseases for Anorchia

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

(show all 34)
id Related Disease Score Top Affiliating Genes
1 testicular regression syndrome 11.2
2 intraventricular meningioma 10.1 CGA SRY
3 8p23.1 duplication syndrome 10.1 NR5A1 SRY
4 congenital articular rigidity 10.1 CGA SRY
5 abl1 kd-related altered drug metabolism 10.1 NR5A1 SRY
6 capillary disease 10.1 CGA SRY
7 renal-hepatic-pancreatic dysplasia 10.1 CGA INSL3
8 malignant teratocarcinosarcoma 10.1 CGA CGB5
9 autosomal dominant optic atrophy and late-onset deafness 10.1 NR5A1 SRY
10 microcephaly, seizures, and developmental delay 10.1 CGA CGB5
11 deafness, autosomal recessive 51 10.1 NR5A1 SRY
12 parameningeal embryonal rhabdomyosarcoma 10.0 CGA CGB5
13 acute gonococcal salpingitis 10.0 NR5A1 SRY
14 jackson-weiss syndrome 10.0 CGB5 NR5A1
15 farmer's lung 10.0 NR5A1 SRY
16 46 xx gonadal dysgenesis 10.0 NR5A1 SRY
17 capillary lymphangioma 10.0 NR5A1 SRY
18 cryptorchidism 10.0
19 pseudohermaphroditism 10.0
20 splenic disease 10.0 CGA INSL3 SRY
21 deafness, autosomal dominant 7 10.0 NR5A1 SRY
22 ovarian mucinous cystadenocarcinoma 10.0 CGA CGB5
23 cone dystrophy 9.9 INSL3 NR5A1 SRY
24 benign essential hypertension 9.9 INSL3 NR5A1 SRY
25 hypospadias 1, x-linked 9.9 CGA NR5A1 SRY
26 epidural neoplasm 9.9 CGB5 INSL3 NR5A1
27 avoidant personality disorder 9.8 NR5A1 SRY
28 fibrous dysplasia 9.8 INSL3 RXFP2
29 hypogonadism 9.7
30 conjunctivitis 9.7
31 hypogonadotropism 9.7
32 breast myoepithelial neoplasm 9.6 CGA CGB5 INSL3 RXFP2
33 diabetes mellitus, insulin-resistant, with acanthosis nigricans 9.4 CGA CGB5 INSL3 NR5A1 RXFP2
34 antisynthetase syndrome 9.2 CGA CGB5 INSL3 NR5A1 RXFP2 SRY

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to Anorchia

Symptoms & Phenotypes for Anorchia

Human phenotypes related to Anorchia:

56 32 (show all 12)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 increased circulating gonadotropin level 56 32 Very frequent (99-80%) HP:0000837
2 decreased serum testosterone level 56 32 Very frequent (99-80%) HP:0040171
3 ambiguous genitalia 56 32 Frequent (79-30%) HP:0000062
4 urogenital sinus anomaly 56 32 Frequent (79-30%) HP:0100779
5 micropenis 56 32 Very frequent (99-80%) HP:0000054
6 hypoplasia of the uterus 56 32 Frequent (79-30%) HP:0000013
7 abnormal vas deferens morphology 56 32 Very frequent (99-80%) HP:0012872
8 absent external genitalia 56 32 Very frequent (99-80%) HP:0000042
9 vanishing testis 56 32 Very frequent (99-80%) HP:0012870
10 urethrovaginal fistula 56 32 Frequent (79-30%) HP:0008716
11 aplasia of the testes 56 Very frequent (99-80%)
12 absent testis 32 HP:0010469

Drugs & Therapeutics for Anorchia

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

(show all 6)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Oxandrolone Approved, Investigational Phase 1 53-39-4 5878
2 Anabolic Agents Phase 1
3 Hormone Antagonists Phase 1
4 Androgens Phase 1
5 Hormones Phase 1
6 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in Infants Active, not recruiting NCT01048632 Phase 1

Search NIH Clinical Center for Anorchia

Genetic Tests for Anorchia

Anatomical Context for Anorchia

MalaCards organs/tissues related to Anorchia:

39
Testes, Testis, Uterus, Bone

Publications for Anorchia

Articles related to Anorchia:

(show all 42)
id Title Authors Year
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

Expression for Anorchia

Search GEO for disease gene expression data for Anorchia.

Pathways for Anorchia

GO Terms for Anorchia

Biological processes related to Anorchia according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 regulation of transcription from RNA polymerase II promoter GO:0006357 9.46 CGA CGB5 NR5A1 SRY
2 male gonad development GO:0008584 9.32 NR5A1 RXFP2
3 peptide hormone processing GO:0016486 9.26 CGA CGB5
4 positive regulation of male gonad development GO:2000020 8.96 NR5A1 SRY
5 cell-cell signaling GO:0007267 8.92 CGA CGB5 INSL3 NR5A1

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

id Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 8.96 CGA INSL3
2 transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding GO:0003705 8.62 NR5A1 SRY

Sources for Anorchia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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