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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
Peutz-Jeghers Syndrome (PJS)
Alias:
Pjs
Polyposis, Hamartomatous Intestinal
Polyps-and-Spots Syndrome
Hamartomatous Intestinal Polyposis
Hamartomatous Polyp
Intestinal Polyposis-Cutaneous Pigmentation Syndrome
Peutz-Jeghers Polyp of Small Intestine
Peutz-Jeghers Small Bowel Hamartoma
Periorificial Lentiginosis Syndrome
Peutz-Jeghers Polyps of Small Bowel
Intestinal Hamartomatous Polyposis
Peutz-Jeghers Polyp of the Stomach
Colonic Hamartomatous Polyp
Gastric Peutz-Jeghers Polyp
Peutz Jeghers Colon Polyp
Polyposis, Intestinal, Ii
Peutz-Jeghers Polyposis
Lentiginosis, Perioral
Peutz Jeghers Polyp
Peutz-Jeghers Polyp
Peutz Jehgers Polyp
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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
Peutz-Jeghers 综合征,也被称为 PJS,与胃癌和 Cowden 综合征有关。与 Peutz-Jeghers 综合征相关的基因是 STK11(丝氨酸/苏氨酸激酶 11),其相关通路/超级通路包括传染病和 ERK 信号通路。在该疾病的背景下提到了抗菌药物和抗真菌药物。附属组织包括小肠和皮肤,相关表型为斑点和多发性色素沉着。
Related ID:
MALACARDS:PTZ001
OMIM:175200
MESH:D010580
ICD11:1331537078
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
孩童期
1-9/1000000
31
507
226
PTZ001
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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