MCID: ANR018
MIFTS: 31

Anorchia malady

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

Aliases & Classifications for Anorchia

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet
See all MalaCards sources

Aliases & Descriptions for Anorchia:

Name: Anorchia 45
Testicular Agenesis 45 51
Bilateral Anorchia 45 51
Congenital Absence of Testes 45
 
Absence of Testes 45
Absent Testicle 65
Empty Scrotum 45

Classifications:



External Ids:

Orphanet51 325124
ICD10 via Orphanet28 Q55.0
UMLS65 C0405582

Summaries for Anorchia

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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 agenesis, is related to pfeiffer syndrome and testicular regression syndrome. An important gene associated with Anorchia is NR5A1 (Nuclear Receptor Subfamily 5 Group A Member 1), and among its related pathways is G alpha (s) signalling events. Affiliated tissues include testes, testis and breast, and related mouse phenotypes are reproductive system and endocrine/exocrine gland.

Related Diseases for Anorchia

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

(show top 50)    (show all 74)
idRelated DiseaseScoreTop Affiliating Genes
1pfeiffer syndrome30.4CGB5, NR5A1
2testicular regression syndrome10.4
3arthritis10.2
4dysmorphism-short stature-deafness-disorder of sex development syndrome10.2NR5A1, SRY
5actg2-related disorders10.2NR5A1, SRY
648,xxxy syndrome10.2NR5A1, SRY
7swyer-james syndrome10.2NR5A1, SRY
8nephrotic syndrome, type 410.2NR5A1, SRY
9meacham syndrome10.2NR5A1, SRY
10hidradenitis suppurativa10.1NR5A1, SRY
11alternating hemiplegia of childhood10.1NR5A1, SRY
12rheumatoid arthritis10.1
13lung cancer10.1
14breast cancer10.1
15hodgkin lymphoma10.1
16lymphangioleiomyomatosis10.1
17cerebral amyloid angiopathy10.1
18chronic lymphocytic leukemia10.1
19focal segmental glomerulosclerosis10.1
20hepatitis10.1
21leukemia10.1
22angiosarcoma10.1
23glomerulosclerosis10.1
24lymphoma10.1
25cardiac tamponade10.1
26onchocerciasis10.1
27emery-dreifuss muscular dystrophy10.1
28bile reflux10.1
29hiatus hernia10.1
30angioedema10.1
31hepatitis c10.1
32thrombocytosis10.1
33leptospirosis10.1
34laryngeal carcinoma10.1
35keratoacanthoma10.1
36cerebritis10.1
37laryngitis10.1
38tuberculosis10.1
39gastritis10.1
40lymph node tuberculosis10.1
41reactive arthritis10.1
42amyloidosis10.1
43muscular dystrophy10.1
44toxoplasmosis10.1
45essential thrombocythemia10.1
46glomerular disease10.1
47ocular toxoplasmosis10.1
4846 xy gonadal dysgenesis10.1NR5A1, SRY
49renal adenoma10.1INSL3, NR5A1
50alcoholic psychosis10.1INSL3, SRY

Graphical network of the top 20 diseases related to Anorchia:



Diseases related to anorchia

Symptoms for Anorchia

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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 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
2Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 19988
3HormonesPhase 111748
4Hormone AntagonistsPhase 110002
5AndrogensPhase 11162
6Anabolic AgentsPhase 1375

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pilot Study of the Safety and Efficacy of Oxandrolone in the Prevention and Treatment of Malnutrition in InfantsRecruitingNCT01048632Phase 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:

33
Testes, Testis, Breast, Eye, Brain, Bone, Colon

Animal Models for Anorchia or affiliated genes

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MGI Mouse Phenotypes related to Anorchia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.1CGA, INSL3, NR5A1, RXFP2
2MP:00053798.0CGA, INSL3, NR5A1, RXFP2

Publications for Anorchia

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Articles related to Anorchia:

(show all 42)
idTitleAuthorsYear
1
From the set-up of a screening program of breast cancer patients to the identification of the first BRCA mutation in the DR Congo. (25070656)
2014
2
Radiotherapy for Stage IIA seminoma: The Northern Israel Oncology Center Experience, 1971-2010. (25184051)
2014
3
Cooperative recruitment of HMGB1 during V(D)J recombination through interactions with RAG1 and DNA. (23325855)
2013
4
Colectomy for patients with ulcerative colitis and primary sclerosing cholangitis - What next? (24239402)
2013
5
Head injury: audit of a clinical guideline to justify head CT. (23551773)
2013
6
Development of osteoporosis animal model using micropigs. (24106513)
2013
7
Dental risk factors for osteonecrosis of the jaws: a CONDOR case-control study. (23212125)
2013
8
Tuberculous peritonitis with infracarinal mass and elevated CA-125 in a 13-year-old girl. (23955269)
2013
9
Neonatal osteofibrous dysplasia associated with pathological tibia fracture: a case report and review of the literature. (21383639)
2012
10
Ovarian malignant mixed mullerian tumor with primitive neuroectodermal differentiation: case report with review of the literature. (20950943)
2011
11
Tuberous sclerosis-2 (TSC2) regulates the stability of death-associated protein kinase-1 (DAPK) through a lysosome-dependent degradation pathway. (21134130)
2011
12
Trend tests for genetic association using population-based cross-sectional complex survey data. (19745160)
2010
13
Amelioration of murine dry eye disease by topical antagonist to chemokine receptor 2. (19597109)
2009
14
Epidemiology, genetics, and risk evaluation of postmenopausal women at risk of breast cancer. (18596599)
2008
15
Angiosarcoma in an area of lipodermatosclerosis. (18634723)
2008
16
Stem-cell-abundant proteins Nanog, Nucleostemin and Musashi1 are highly expressed in malignant cervical epithelial cells. (18419830)
2008
17
Clinical manifestations of cutaneous lupus erythematosus. (18042093)
2007
18
Human chorionic gonadotropin and plasma protein-A in alpha0-thalassemia pregnancies. (16946227)
2006
19
The expanding role of BDNF: a therapeutic target for Alzheimer's disease? (16314887)
2006
20
The relationship of vitamin D status to bone mineral density in an Italian population of postmenopausal women. (15959621)
2005
21
Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS. (15928660)
2005
22
Cyclooxygenase-2 inhibition to treat radiation-induced brain necrosis and edema. (15087954)
2004
23
Apoptotic topoisomerase I-DNA complexes induced by staurosporine-mediated oxygen radicals. (15448130)
2004
24
hSpry2 is targeted to the ubiquitin-dependent proteasome pathway by c-Cbl. (12593796)
2003
25
Recombinant IFN-alpha2b treatment activates poly (ADPR) polymerase-1 (PARP-1) in KB cancer cells. (12957467)
2003
26
NHE-RF, a merlin-interacting protein, is primarily expressed in luminal epithelia, proliferative endometrium, and estrogen receptor-positive breast carcinomas. (11141479)
2001
27
Congenital nasopharyngeal teratoma (epignathus). (10865402)
2000
28
Haloperidol for Tourette's disorder plus selective mutism. (9893409)
1999
29
Minimal persistent inflammation may be controlled by cetirizine. (10582729)
1999
30
Thromboxane A2, released by the anti-tumour drug irinotecan, is a novel stimulator of Cl- secretion in isolated rat colon. (9409477)
1997
31
Serotyping of group A rotaviruses in Egyptian neonates and infants less than 1 year old with acute diarrhea. (9350778)
1997
32
Congenital adrenal hyperplasia complicated by central precocious puberty: linear growth during infancy and treatment with gonadotropin-releasing hormone analog. (9160816)
1997
33
Dopamine induces apoptotic cell death of a catecholaminergic cell line derived from the central nervous system. (8913362)
1996
34
A gene on 6q 14-21 restores senescence to immortal ovarian tumor cells. (8570202)
1996
35
Extensive loss of heterozygosity accounts for differential mutation rate on chromosome 17q in human lymphoblasts. (7739402)
1995
36
Assessment of lectin binding for prognosis in endometrial carcinoma. (7991274)
1994
37
Ligand-protein electrostatic interactions govern the specificity of retinol- and fatty acid-binding proteins. (8422392)
1993
38
Parathyroid carcinoma associated with chronic renal failure and previous radiotherapy to the neck. (4056066)
1985
39
Neuropsychological testing during a transient global amnesia episode and its follow-up. (7468160)
1981
40
Placental protein 5 (PP5) in placental abruption. (7236553)
1981
41
Bronchogenic cyst. (480084)
1979
42
Congenital macroglossia; report of two cases. (18872847)
1948

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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Pathways related to Anorchia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
18.5CGA, INSL3, RXFP2

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
1peptide hormone processingGO:00164869.5CGA, CGB5
2negative regulation of cell proliferationGO:00082859.3INSL3, RXFP2
3oocyte maturationGO:00015569.3INSL3, RXFP2
4cell-cell signalingGO:00072678.4CGA, CGB5, NR5A1

Sources for Anorchia

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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