MCID: ANR018
MIFTS: 42

Anorchia malady

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

Aliases & Classifications for Anorchia

About this section
Sources:
65UMLS, 45NIH Rare Diseases, 47Novoseek, 51Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet
See all sources

Aliases & Descriptions for Anorchia:

Name: Anorchia 45
Testicular Regression Syndrome 45 47 51 65
Trs 45 51
Idiopathic Interstitial Pneumonia, Not Otherwise Specified 65
Embryonic Testicular Regression Syndrome 51
Idiopathic Interstitial Pneumonias 65
Xy Gonadal Dysgenesis Syndrome 45
Congenital Absence of Testes 45
 
Rothmund-Thomson Syndrome 65
Vanishing Testis Syndrome 51
Vanishing Testes Syndrome 51
Hamman-Rich Syndrome 65
Absence of Testes 45
Vanishing Testes 45
Empty Scrotum 45
Etrs 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
testicular regression syndrome:
Inheritance: Autosomal recessive; Age of onset: Childhood


External Ids:

Orphanet51 983
ICD10 via Orphanet28 Q55.0
MESH via Orphanet37 C537770
UMLS via Orphanet66 C0266427, C0405582, C1261504

Summaries for Anorchia

About this section
Wikipedia:68 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 48,xxxy syndrome and spinal and bulbar muscular atrophy of kennedy, and has symptoms including abnormality of female internal genitalia, abnormality of male internal genitalia and male pseudohermaphroditism. An important gene associated with Anorchia is RECQL4 (RecQ Helicase-Like 4), and among its related pathways is G alpha (s) signalling events. Affiliated tissues include testes, testis and uterus, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Related Diseases for Anorchia

About this section

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

(show top 50)    (show all 221)
idRelated DiseaseScoreTop Affiliating Genes
148,xxxy syndrome30.1NR5A1, SRY
2spinal and bulbar muscular atrophy of kennedy30.1CGA, SRY
3thyroiditis10.6
4cerebellar degeneration10.4
5paraneoplastic cerebellar degeneration10.4
6gynecomastia10.2
7schizophrenia10.2
8premature ejaculation10.2
9neuronitis10.2
10autism spectrum disorder10.2
11personality disorder10.2
12cryptorchidism10.2
13pseudohermaphroditism10.2
14human immunodeficiency virus infectious disease10.2
15von economo's disease10.2CGA, SRY
16herpes simplex10.1CGA, SRY
17actg2-related disorders10.1NR5A1, SRY
18pigmented paravenous retinochoroidal atrophy10.1NR5A1, SRY
19complete atrioventricular canal10.1CGA, SRY
20chronic closed-angle glaucoma10.1NR5A1, SRY
21swyer-james syndrome10.1NR5A1, SRY
22sclerosteosis10.1CGA, INSL3
23diphyllobothriasis10.1CGA, SRY
24pontocerebellar hypoplasia10.1
25frasier syndrome10.1NR5A1, SRY
26cerebellar ataxia10.1
27drug psychosis10.1
28borderline personality disorder10.1
29pain disorder10.1
30psychotic disorder10.1
31vein disease10.1
32withdrawal disorder10.1
33ataxia10.1
34alternating hemiplegia of childhood10.0NR5A1, SRY
35trichohepatoenteric syndrome 210.0
36immunodeficiency 1210.0
37spastic diplegia10.0
38b cell deficiency10.0
39nutritional deficiency disease10.0
40sexual disorder10.0
41white piedra10.0NR5A1, SRY
42gonococcal seminal vesiculitis10.0NR5A1, SRY
43testicular granulosa cell tumor10.0CGA, INSL3, SRY
44respiratory failure10.0NR5A1, SRY
45nephrogenic adenoma10.0NR5A1, SRY
46schwartz-jampel syndrome, type 110.0
47erythrokeratodermia variabilis et progressiva10.0
48prune belly syndrome10.0
49alstrom syndrome10.0
50werner syndrome10.0

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Symptoms for Anorchia

About this section

Symptoms:

 51 (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 male pseudohermaphroditism hallmark (90%) HP:0000037
4 ambiguous genitalia hallmark (90%) HP:0000062
5 decreased fertility hallmark (90%) HP:0000144
6 hypoplasia of penis hallmark (90%) HP:0008736
7 abnormality of the face occasional (7.5%) HP:0000271
8 abnormal internal genitalia HP:0000812
9 vanishing testis HP:0012870

Drugs & Therapeutics for Anorchia

About this section

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Oxandroloneapproved, investigationalPhase 11553-39-45878
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
2Calcium, Dietary3529

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in InfantsRecruitingNCT01048632Phase 1
2Calcium Absorption in Patients With Rothmund-Thomson SyndromeEnrolling by invitationNCT01304407

Search NIH Clinical Center for Anorchia

Genetic Tests for Anorchia

About this section

Anatomical Context for Anorchia

About this section

MalaCards organs/tissues related to Anorchia:

33
Testes, Testis, Uterus, Bone

Animal Models for Anorchia or affiliated genes

About this section

MGI Mouse Phenotypes related to Anorchia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053797.6CGA, INSL3, NR5A1, RXFP2, SRY
2MP:00053897.3CGA, INSL3, NR5A1, RXFP2, SRY

Publications for Anorchia

About this section

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
Bilateral anorchia. (7185833)
1982
25
Sex hormone-binding globulin response to human chorionic gonadotropin stimulation in children with cryptorchidism, anorchia, male pseudohermaphroditism, and micropenis. (6120946)
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
Bilateral anorchia: discordance in monozygotic twins. (5173161)
1971
35
Bilateral anorchia with sickle-C disease. (5539785)
1971
36
Anorchia. A variety of the "empty scrotum". (4396259)
1971
37
HCG stimulation test in prepubertal boys with cryptorchidism, in bilateral anorchia and in male pseudohermaphroditism. (4394269)
1970
38
Bilateral anorchia with persistent testosterone production. (5410219)
1970
39
Effect of testosterone on growth hormone secretion in patients with anorchia and delayed puberty. (4315480)
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

About this section

Clinvar genetic disease variations for Anorchia:

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1RECQL4NM_004260.3(RECQL4): c.82C> T (p.Gln28Ter)single nucleotide variantPathogenicrs794726912GRCh38Chr 8, 144517703: 144517703
2RECQL4NM_004260.3(RECQL4): c.1048_1049delAG (p.Arg350Glyfs)deletionPathogenicrs746636748GRCh38Chr 8, 144516070: 144516071
3RECQL4NM_004260.3(RECQL4): c.2476C> T (p.Arg826Ter)single nucleotide variantLikely pathogenic, Pathogenicrs386833851GRCh37Chr 8, 145738509: 145738509
4RECQL4NM_004260.3(RECQL4): c.1650_1656delGGCCTGC (p.Ala551Tyrfs)deletionPathogenicrs786200887GRCh37Chr 8, 145739874: 145739880
5RECQL4NM_004260.3(RECQL4): c.2269C> T (p.Gln757Ter)single nucleotide variantPathogenicrs137853229GRCh37Chr 8, 145738796: 145738796
6RECQL4NM_004260.3(RECQL4): c.2492_2493delAT (p.His831Argfs)deletionPathogenicrs752729755GRCh37Chr 8, 145738492: 145738493
7RECQL4NM_004260.3(RECQL4): c.2059-1G> Tsingle nucleotide variantPathogenicrs386833849GRCh37Chr 8, 145739097: 145739097
8RECQL4NM_004260.3(RECQL4): c.1573delT (p.Cys525Alafs)deletionLikely pathogenic, Pathogenicrs386833845GRCh37Chr 8, 145740367: 145740367
9RECQL4NM_004260.3(RECQL4): c.1391-1G> Asingle nucleotide variantPathogenicrs117642173GRCh37Chr 8, 145740627: 145740627
10RECQL4NM_004260.3(RECQL4): c.2059-1G> Csingle nucleotide variantPathogenicrs386833849GRCh38Chr 8, 144513713: 144513713
11RECQL4NM_004260.3(RECQL4): c.1919_1924delTCACAG (p.Leu640_Ala642delinsPro)deletionPathogenicrs786200890GRCh37Chr 8, 145739446: 145739451
12RECQL4NM_004260.3(RECQL4): c.1704+1G> Asingle nucleotide variantPathogenicrs760363252GRCh37Chr 8, 145739825: 145739825
13RECQL4NM_004260.3(RECQL4): c.2464-1G> Csingle nucleotide variantPathogenicrs398124117GRCh37Chr 8, 145738522: 145738522

Expression for genes affiliated with Anorchia

About this section
Search GEO for disease gene expression data for Anorchia.

Pathways for genes affiliated with Anorchia

About this section

Pathways related to Anorchia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
18.7CGA, INSL3, RXFP2

GO Terms for genes affiliated with Anorchia

About this section

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1peptide hormone processingGO:00164869.7CGA, CGB5
2positive regulation of male gonad developmentGO:20000209.4NR5A1, SRY
3adenylate cyclase-inhibiting G-protein coupled receptor signaling pathwayGO:00071939.4INSL3, RXFP2
4positive regulation of cAMP biosynthetic processGO:00308199.4INSL3, RXFP2
5oocyte maturationGO:00015569.1INSL3, RXFP2
6cell-cell signalingGO:00072678.4CGA, CGB5, INSL3, NR5A1
7male gonad developmentGO:00085847.9INSL3, NR5A1, RXFP2, SRY

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.7NR5A1, SRY
2hormone activityGO:00051799.0CGA, CGB5, INSL3

Sources for Anorchia

About this section
2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet