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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Precocious Puberty, Male-Limited (FMPP)
Alias:
Testotoxicosis
Familial Male-Limited Precocious Puberty
Fmpp
Familial Gonadotropin-Independent Male-Limited Sexual Precocity
Leydig Cell Adenoma, Somatic, with Precocious Puberty
Male-Limited Precocious Puberty
Gonadotropin-Independent Familial Sexual Precocity
Familial Testotoxicosis
Precocious Puberty
Sexual Precocity, Familial, Gonadotropin-Independent
Familial Gonadotrophin-Independent Sexual Precocity
Familial Peripheral Male-Limited Precocious Puberty
Gonadotrophin-Independent Precocious Puberty
Precocious Puberty, Male Limited
Familial Male Precocious Puberty
Precocious Puberty in Males
Testotoxicosis, Familial
Precocious Puberty, Male
Precocious Pseudopuberty
Puberty, Precocious
Pubertas Praecox
Gipp
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基础信息
疾病表征
基因 & 突变
靶点药物
疾病模型
文献报道
早熟,男性特异型,也被称为雄激素过多症和青少年型睾丸颗粒细胞瘤,与芳香酶过多症和青少年型睾丸颗粒细胞瘤有关。与早熟,男性特异型相关的基因是LHCGR(黄体生成素/促性腺激素受体),其相关通路/超级通路包括信号转导和G蛋白偶联受体下游信号转导。在该疾病的背景下,已提到的药物有甲地孕酮和亮丙瑞林。相关组织包括睾丸和睾丸,相关表型为早熟和高身材。
Related ID:
MALACARDS:PRC038
OMIM:176410
MESH:C536961
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
<1/1000000
20
179
29
PRC038
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
Gene
Function
Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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