MCID: TST023
MIFTS: 31

Testotoxicosis malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Testotoxicosis

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Aliases & Descriptions for Testotoxicosis:

Name: Testotoxicosis 45 65
Sexual Precocity, Familial, Gonadotropin-Independent 45 24
Familial Testotoxicosis 45 65
Precocious Puberty, Male Limited 45
 
Precocious Puberty, Male-Limited 47
Male-Limited Precocious Puberty 22
Precocious Puberty 65
Pubertas Praecox 45

Classifications:



External Ids:

UMLS65 C1504412, C0342549, C0034013

Summaries for Testotoxicosis

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NIH Rare Diseases:45 Testotoxicosis is a form of gonadotropin-independent precocious puberty in which boys experience early onset and progression of puberty. the disease generally presents between 2 and 4 years of age. patients have accelerated growth, early development of secondary sexual characteristics and reduced adult height. testotoxicosis is caused by an activating mutation of the luteinizing hormone receptor (lhcgr) gene, which leads to increased levels of sex steroids in the context of low luteinizing hormone. the condition may be sporadic or transmitted as a dominant trait. it is only expressed in males. treatment consists of reducing hyperandrogenism in children (sexual maturation, stature), with ketoconazole or a combination of antiandrogens and aromatase inhibitors. last updated: 2/29/2012

MalaCards based summary: Testotoxicosis, also known as sexual precocity, familial, gonadotropin-independent, is related to familial male-limited precocious puberty and precocious puberty, male. An important gene associated with Testotoxicosis is LHCGR (Luteinizing Hormone/Choriogonadotropin Receptor), and among its related pathways are G alpha (s) signalling events and Hormone ligand-binding receptors. The drugs gonadorelin and tamoxifen have been mentioned in the context of this disorder. Affiliated tissues include bone, myeloid and bone marrow, and related mouse phenotypes are endocrine/exocrine gland and reproductive system.

Wikipedia:68 Familial male-limited precocious puberty, often abbreviated as FMPP, also known as familial sexual... more...

Related Diseases for Testotoxicosis

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

(show top 50)    (show all 51)
idRelated DiseaseScoreTop Affiliating Genes
1familial male-limited precocious puberty12.0
2precocious puberty, male11.5
3lung cancer10.1
4prostate cancer10.1
5breast cancer10.1
6hepatitis c virus10.1
7coffin-lowry syndrome10.1
8angina pectoris10.1
9craniosynostosis10.1
10hepatitis10.1
11lymphedema10.1
12sacrococcygeal teratoma10.1
13lymphoma10.1
14spotted fever10.1
15enophthalmos10.1
16pseudotumor cerebri10.1
17cardiac tamponade10.1
18diarrhea10.1
19pleuropneumonia10.1
20neuroleptic malignant syndrome10.1
21neuronal ceroid lipofuscinosis10.1
22prostatitis10.1
23urticaria10.1
24duodenal ulcer10.1
25hepatitis c10.1
26thrombocytosis10.1
27lymphangiosarcoma10.1
28teratoma10.1
29acute myocarditis10.1
30borna disease10.1
31neuronitis10.1
32myocarditis10.1
33influenza10.1
34duodenitis10.1
35placental abruption10.1
36precocious puberty, gonadotropin-dependent10.0FSHR, LHCGR
37hidradenitis suppurativa9.9FSHR, LHCGR
38external ear disease9.8CYP19A1, FSHR
39hyperuricemia9.8CYP19A1, FSHR
40hypogonadism9.8CYP19A1, LHCGR
41urinary schistosomiasis9.8FSHR, LHCGR
42leptospirosis9.7CYP19A1, FSHR
43leukorrhea9.7CYP19A1, LHCGR
44ovarian hyperstimulation syndrome9.7CYP19A1, FSHR
45post-transplant lymphoproliferative disease9.7CYP19A1, FSHR
46fabry disease9.5CYP19A1, FSHR
47tethered cord syndrome9.5CYP19A1, FSHR, LHCGR
48suppurative thyroiditis9.5CYP19A1, FSHR, LHCGR
49disease of mental health9.5CYP19A1, FSHR, LHCGR
50anorectal stricture9.5CYP19A1, FSHR, LHCGR

Graphical network of the top 20 diseases related to Testotoxicosis:



Diseases related to testotoxicosis

Symptoms for Testotoxicosis

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Drugs & Therapeutics for Testotoxicosis

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

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Anastrozoleapproved, investigationalPhase 2262120511-73-12187
Synonyms:
.alpha.,alpha.,.alpha.',.alpha.'-tetramethyl-5(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
1,3-benzenediacetonitrile, a, a, a', a'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)
120511-73-1
2,2'-(5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene)bis(2-methylpropionitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)-1,3-phenylene]bis(2-methylpropanenitrile)
2,2'-[5-(1H-1,2,4-triazol-1-ylmethyl)benzene-1,3-diyl]bis(2-methylpropanenitrile)
2-[3-(2-cyanopropan-2-yl)-5-(1,2,4-triazol-1-ylmethyl)phenyl]-2-methylpropanenitrile
AC-4234
AC1L1D49
Anastrazole
Anastrole
Anastrozol
Anastrozole
Anastrozole (JAN/USAN/INN)
Anastrozole [USAN:INN:BAN]
Arimidex
Arimidex (TN)
Arimidex (Zeneca)
Arimidex, Anastrozole
Asiolex
Astra brand of anastrozole
AstraZeneca brand of anastrozole
C08159
C090450
C17H19N5
CHEBI:2704
CHEMBL1399
CID2187
CPD000466301
 
D00960
DB01217
HMS2052M11
HMS2089N10
HSDB 7462
I06-0021
ICI D1033
ICI-D 1033
ICI-D1033
LS-29563
MLS000759396
MLS001424217
MolPort-005-933-078
NCGC00164619-01
NSC719344
S1188_Selleck
SAM001246525
SBB066057
SMR000466301
UNII-2Z07MYW1AZ
ZD 1033
ZD-1033
ZD1033
ZINC00000941
Zeneca ZD 1033
Zeneca brand of anastrozole
alpha,alpha,Alpha',alpha'-tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
alpha,alpha,alpha',alpha'-Tetramethyl-5-(1H-1,2,4-triazol-1-ylmethyl)-m-benzenediacetonitrile
anastrazole
anastrozole
2
BicalutamideapprovedPhase 216390357-06-556069, 2375
Synonyms:
(+-)-4'-Cyano-alpha,alpha,alpha-trifluoro-3-((p-fluorophenyl)sulfonyl)-2-methyl-m-lactotoluidide
4'-cyano-3-(4-fluorophenylsulfonyl)-2-hydroxy-2-methyl-3'-(trifluoromethyl)propionanilide
90357-06-5
AC-4232
AC1L1DJE
Astra brand of bicalutamide
AstraZeneca brand of bicalutamide
BRN 5364666
Bicalutamide
Bicalutamide (JAN/USP/INN)
Bicalutamide [USAN:INN:BAN]
C053541
C08160
C18H14F4N2O4S
CHEMBL409
CID2375
CPD000466329
Casodex
Casodex (TN)
Casodex, Cosudex, Calutide, Kalumid, Bicalutamide
Cosudex
D00961
DB01128
FT-0080576
 
HMS2051B13
HMS2089N12
I06-0475
I06-0480
ICI 176334
ICI-176334
KS-1161
LS-119125
MLS000759437
MLS001424047
MolPort-003-845-034
MolPort-006-808-679
N-[4-cyano-3-(trifluoromethyl)phenyl]-3-(4-fluorophenyl)sulfonyl-2-hydroxy-2-methylpropanamide
NCGC00167977-01
NCGC00167977-02
NSC722665
Propanamide, N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methyl-,
Raffolutil
S1190_Selleck
SAM001246612
SMR000466329
TL8005814
Zeneca brand of bicalutamide
bicalutamide
propanamide, N-[4-cyano-3-(trifluoromethyl)phenyl]-3-[(4-fluorophenyl)sulfonyl]-2-hydroxy-2-methyl-,(+-)
3Hormone AntagonistsPhase 210002
4HormonesPhase 211748
5Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 29988
6EstrogensPhase 22144
7Estrogen AntagonistsPhase 21155
8Antineoplastic Agents, HormonalPhase 24256
9Aromatase InhibitorsPhase 2721
10Androgen AntagonistsPhase 2252
11AndrogensPhase 21162

Interventional clinical trials:

idNameStatusNCT IDPhase
1Pediatrics Testotoxicosis Study [Bicalutamide Anastrozole Treatment for Testotoxicosis]Active, not recruitingNCT00094328Phase 2

Search NIH Clinical Center for Testotoxicosis

Inferred drug relations via UMLS65/NDF-RT43:

Genetic Tests for Testotoxicosis

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Anatomical Context for Testotoxicosis

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MalaCards organs/tissues related to Testotoxicosis:

33
Bone, Myeloid, Bone marrow, Colon, Thalamus, Neutrophil

Animal Models for Testotoxicosis or affiliated genes

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MGI Mouse Phenotypes related to Testotoxicosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053798.7CYP19A1, FSHR, LHCGR
2MP:00053898.6CYP19A1, FSHR, LHCGR
3MP:00053908.5CYP19A1, FSHR, LHCGR
4MP:00053758.4CYP19A1, FSHR, LHCGR

Publications for Testotoxicosis

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Articles related to Testotoxicosis:

(show all 23)
idTitleAuthorsYear
1
Remitted epilepsy with dysembryoplastic neuroepithelial tumor involving the thalamus. (27163491)
2016
2
Tyrosyl-DNA-phosphodiesterase I (TDP1) participates in the removal and repair of stabilized-Top2I+ cleavage complexes in human cells. (26421495)
2015
3
Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities. (24804704)
2014
4
Delusional disorder: an unusual presentation. (25336783)
2014
5
Disseminated intravascular coagulation in a novel porcine model of severe Staphylococcus aureus sepsis fulfills human clinical criteria. (23746745)
2013
6
Transsphenoidal meningocele: an anatomical study using human fetuses including report of a case. (23408024)
2013
7
The clinical profile of Merkel cell carcinoma in mainland China. (22909358)
2012
8
Neutrophil functions in patients with inherited bone marrow failure syndromes. (21671367)
2011
9
Upregulated CD133 expression in tumorigenesis of colon cancer cells. (21412503)
2011
10
Increased accumulation of hypoxia-inducible factor-1I+ with reduced transcriptional activity mediates the antitumor effect of triptolide. (20932347)
2010
11
G-CSF and its receptor in myeloid malignancy. (20237318)
2010
12
Kinetic analysis of neurotrophin-3-mediated differentiation of embryonic stem cells into neurons. (18800878)
2009
13
Nephrin binds to the COOH terminus of a large-conductance Ca2+-activated K+ channel isoform and regulates its expression on the cell surface. (18480178)
2008
14
Regional FMRP deficits and large repeat expansions into the full mutation range in a new Fragile X premutation mouse model. (17442505)
2007
15
Estrogenic activities of parabens]. (17086725)
2006
16
Host microsatellite alleles in malaria predisposition? (16216127)
2005
17
Relation between leptin and body fat distribution in menopausal status. (15164950)
2003
18
Superoxide dismutases enhance H2O2-induced DNA damage and alter its site specificity. (11334889)
2001
19
Management of a case of chloroquine-resistant falciparum malaria in a pregnant woman with glucose-6-phosphate dehydrogenase (G6PD) deficiency. (10772204)
1999
20
Progressive supranuclear palsy affects both the substantia nigra pars compacta and reticulata. (9126169)
1997
21
Chorionic peptidase inactivates GnRH as a post-proline peptidase. (1502138)
1992
22
Silent myocardial infarction. (13673172)
1959
23
Reconstruction of burn-scar deformity. (13039716)
1953

Variations for Testotoxicosis

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Expression for genes affiliated with Testotoxicosis

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Search GEO for disease gene expression data for Testotoxicosis.

Pathways for genes affiliated with Testotoxicosis

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Pathways related to Testotoxicosis according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.3FSHR, LHCGR
29.3FSHR, LHCGR
39.1CYP19A1, FSHR
48.5CYP19A1, FSHR, LHCGR
58.5CYP19A1, FSHR, LHCGR

GO Terms for genes affiliated with Testotoxicosis

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

idNameGO IDScoreTop Affiliating Genes
1activation of adenylate cyclase activityGO:00071909.3FSHR, LHCGR
2phospholipase C-activating G-protein coupled receptor signaling pathwayGO:00072009.0FSHR, LHCGR

Sources for Testotoxicosis

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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