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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
Hypoadrenocorticism, Familial
Alias:
Addison Disease
Primary Adrenocortical Insufficiency
Autoimmune Addison Disease
Classic Addison Disease
Primary Addison Disease
Autoimmune Adrenalitis
Addison's Disease
Adrenal Hypoplasia
Addison Disease, Chronic Adrenal Insufficiency
Autoimmune Primary Adrenal Insufficiency
Addison's Disease Due to Autoimmunity
Addison Disease, Susceptibility to
Autoimmune Addison's Disease
Adrenal Gland Hypofunction
Primary Hypoadrenalism
Addisons Disease
Adrenal Aplasia
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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
原发性肾上腺皮质功能减退症,家族性,也称为艾迪生病,与自身免疫性多内分泌症1型和宫内发育迟缓、骨骺发育不良、先天性肾上腺发育不良和生殖器异常有关。与原发性肾上腺皮质功能减退症,家族性相关的基因是ABCD1(ATP结合盒家族D成员1),其相关通路/超通路包括糖基化代谢和疾病。在该疾病的背景下,已提到的药物有氢化可的松和氢化可的松醋酸酯。附属组织包括肾上腺和肾上腺皮质,相关表型为原发性肾上腺功能不全和循环皮质醇水平降低。
Related ID:
MALACARDS:HYP780
OMIM:240200
MESH:D000224
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-5/10000
27
252
30
HYP780
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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