MCID: PRC025
MIFTS: 5

Precocious Puberty, Gonadotropin-Dependent

Categories: Rare diseases

Aliases & Classifications for Precocious Puberty, Gonadotropin-Dependent

MalaCards integrated aliases for Precocious Puberty, Gonadotropin-Dependent:

Name: Precocious Puberty, Gonadotropin-Dependent 20 6

Classifications:



Summaries for Precocious Puberty, Gonadotropin-Dependent

MalaCards based summary : Precocious Puberty, Gonadotropin-Dependent An important gene associated with Precocious Puberty, Gonadotropin-Dependent is KISS1R (KISS1 Receptor).

Related Diseases for Precocious Puberty, Gonadotropin-Dependent

Symptoms & Phenotypes for Precocious Puberty, Gonadotropin-Dependent

Drugs & Therapeutics for Precocious Puberty, Gonadotropin-Dependent

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Urinary LH in the Diagnosis of Precocious Puberty Unknown status NCT01800565

Search NIH Clinical Center for Precocious Puberty, Gonadotropin-Dependent

Genetic Tests for Precocious Puberty, Gonadotropin-Dependent

Anatomical Context for Precocious Puberty, Gonadotropin-Dependent

Publications for Precocious Puberty, Gonadotropin-Dependent

Articles related to Precocious Puberty, Gonadotropin-Dependent:

# Title Authors PMID Year
1
A GPR54-activating mutation in a patient with central precocious puberty. 6
18272894 2008

Variations for Precocious Puberty, Gonadotropin-Dependent

ClinVar genetic disease variations for Precocious Puberty, Gonadotropin-Dependent:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KISS1R NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro) SNV Pathogenic 5760 rs121908499 19:920708-920708 19:920708-920708
2 KISS1R NM_032551.5(KISS1R):c.305T>C (p.Leu102Pro) SNV Likely pathogenic 5759 rs104894703 19:918604-918604 19:918604-918604
3 KISS1R NM_032551.5(KISS1R):c.439C>T (p.Pro147Ser) SNV Uncertain significance 800826 rs61735615 19:919559-919559 19:919559-919559

Expression for Precocious Puberty, Gonadotropin-Dependent

Search GEO for disease gene expression data for Precocious Puberty, Gonadotropin-Dependent.

Pathways for Precocious Puberty, Gonadotropin-Dependent

GO Terms for Precocious Puberty, Gonadotropin-Dependent

Sources for Precocious Puberty, Gonadotropin-Dependent

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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