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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
非罕见病
Pituitary Adenoma 4, Acth-Secreting (PITA4)
Alias:
Pita4
Pituitary Adenoma 4, Acth-Secreting, Somatic
Adenoma, Pituitary, Acth-Secreting, Type 4
Pituitary-Dependent Cushing's Disease
Pituitary Dependent Hypercortisolism
Cushing Disease, Pituitary
Pituitary Cushing Disease
Cushing Disease
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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
垂体腺瘤4,皮质醇分泌型,也称为pita4,与康恩综合症和垂体腺瘤有关。与垂体腺瘤4,皮质醇分泌型相关的基因是USP8(泛素特异性肽酶8)。在该疾病的背景下,已提到的药物有帕司立酮和胰岛素。附属组织包括垂体和骨骼肌,相关表型为情绪不稳和驼背。
Related ID:
MALACARDS:PTT057
OMIM:219090
MESH:D049913
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
未知
--
3
20
7
PTT057
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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