MCID: TST023
MIFTS: 23

Testotoxicosis malady

Genetic diseases category

Summaries for Testotoxicosis

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Sources:
42NIH Rare Diseases, 63Wikipedia, 32MalaCards
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NIH Rare Diseases:42 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: Testotoxicosis, also known as sexual precocity, familial, gonadotropin-independent, is related to precocious puberty, male and familial male-limited precocious puberty. An important gene associated with Testotoxicosis is LHCGR (luteinizing hormone/choriogonadotropin receptor), and among its related pathways are Ovarian steroidogenesis and Ovarian Infertility Genes. The compounds goserelin and leuprolide acetate have been mentioned in the context of this disorder. Related mouse phenotype adipose tissue.

Wikipedia:63 Familial male-limited precocious puberty, often abbreciated as FMPP, also known as familial sexual... more...

Aliases & Classifications for Testotoxicosis

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Sources:
42NIH Rare Diseases, 60UMLS, 20GeneTests, 22GTR, 44Novoseek
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases


Aliases & Descriptions:

testotoxicosis 42
sexual precocity, familial, gonadotropin-independent 42 22
precocious puberty, male limited 42 20
familial testotoxicosis 42 60
precocious puberty, male-limited 44
pubertas praecox 42


Related Diseases for Testotoxicosis

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Testotoxicosis:



Diseases related to testotoxicosis

Clinical Features for Testotoxicosis

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Drugs & Therapeutics for Testotoxicosis

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Testotoxicosis

Drug clinical trials:

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Search NIH Clinical Center for Testotoxicosis

Search CenterWatch for Testotoxicosis

Genetic Tests for Testotoxicosis

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Testotoxicosis:

id Genetic test Affiliating Genes
1 Male-Limited Precocious Puberty20 LHCGR
2 Gonadotropin-Independent Familial Sexual Precocity22

Anatomical Context for Testotoxicosis

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Animal Models for Testotoxicosis or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Testotoxicosis:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.1CYP19A1, LHCGR

Publications for Testotoxicosis

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Genetic Variations for Testotoxicosis

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Expression for genes affiliated with Testotoxicosis

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Testotoxicosis

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Pathways for genes affiliated with Testotoxicosis

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Sources:
29KEGG, 37NCBI BioSystems Database
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Pathways related to Testotoxicosis according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.1CYP19A1, LHCGR
29.1CYP19A1, LHCGR

Compounds for genes affiliated with Testotoxicosis

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 59Tocris Bioscience, 24HMDB
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Compounds related to Testotoxicosis according to GeneCards/GeneDecks:

(show all 14)
idCompoundScoreTop Affiliating Genes
1goserelin44 28 1111.4CYP19A1, LHCGR
2leuprolide acetate449.4CYP19A1, LHCGR
3buserelin44 28 1111.4CYP19A1, LHCGR
4flutamide44 59 1111.4LHCGR, CYP19A1
53beta-hydroxysteroid449.4CYP19A1, LHCGR
6progestin449.3CYP19A1, LHCGR
7gnrh449.3CYP19A1, LHCGR
8estradiol44 11 2411.3LHCGR, CYP19A1
9pge2449.2CYP19A1, LHCGR
10aspartate449.2CYP19A1, LHCGR
11progesterone44 59 28 11 2413.1LHCGR, CYP19A1
12arginine449.1CYP19A1, LHCGR
13testosterone44 59 11 2412.0CYP19A1, LHCGR
14steroid448.8CYP19A1, LHCGR

GO Terms for genes affiliated with Testotoxicosis

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Products for genes affiliated with Testotoxicosis

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Testotoxicosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet