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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
Premature Ovarian Failure 7 (POF7)
Alias:
Adrenocortical Insufficiency
Adrenal Insufficiency, Nr5a1-Related
Pof7
Ovarian Failure, Premature, Type 7
Corticoadrenal Insufficiency Nos
Adrenal Cortical Hypofunction
Adrenocortical Hypofunction
Adrenal Cortex Hypofunction
Adrenal Gland Insufficiency
Corticoadrenal Hypofunction
Adrenal Cortex Deficiency
Corticoadrenal Deficiency
Suprarenal Insufficiency
Aldosterone Deficiency
Adrenal Insufficiency
Adrenal Hypofunction
Adrenal Failure Nos
Hypoadrenocorticism
Hypoaldosteronism
Hypoadrenalism
Hypoadrenia
Ainr
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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
早发性卵巢功能不全7,也称为肾上腺皮质功能不全,与皮质醇甲氧基化酶I缺乏和家族性低肾上腺皮质功能有关。与早发性卵巢功能不全7相关的基因是NR5A1(核受体亚家族5组A成员1),其相关通路/超级通路包括G-βγ信号通路和多肽激素代谢。在该疾病的背景下提到了药物曲安奈德和阿托伐他汀。附属组织包括肾上腺皮质和肾上腺,相关表型为循环促卵泡激素水平升高和循环黄体生成素水平升高。
Related ID:
MALACARDS:PRM093
OMIM:612964
MESH:D000309
ICD11:733056203
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
4
57
9
PRM093
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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