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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
Conn's Syndrome
Alias:
Hyperaldosteronism
Cushing Syndrome
Primary Hyperaldosteronism
Primary Aldosteronism
Hypercortisolism
Cushing's Syndrome
Cushing Disease
Conn Syndrome
Pituitary Corticotroph Micro-Adenoma
Pituitary-Dependent Cushing Syndrome
Corticotroph Pituitary Adenoma
Pituitary Acth Hypersecretion
Hyperadrenocorticism
Ectopic Acth - [adrenocorticotropic Hormone] Secretion Causing Cushing Syndrome
Primary Aldosteronism Due to Bilateral Adrenal Hyperplasia
Ectopic Acth - [adrenocorticotropic Hormone] Secretion
Cushing Syndrome Secondary to Ectopic Acth-Secretion
Primary Aldosteronism Due to Adrenal Hyperplasia
Pituitary-Dependant Hypercortisolism Disorder
Hypercortisolism Due to Nonpituitary Tumour
Pituitary-Dependant Cushing Syndrome
Pituitary-Dependant Hypercortisolism
Corticoadrenal Hypersecretion
Adrenal Gland Hyperfunction
Pituitary Cushing Syndrome
Adrenal Cushing's Syndrome
Adrenal Cortical Adenoma
Ectopic Cushing Syndrome
Idiopathic Aldosteronism
Cortisol Hypersecretion
Acth Syndrome, Ectopic
Aldosteronism Primary
Cushing Syndrome Nos
Cushing's Disease
Aldosteronism
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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
康氏综合症,也被称为醛固酮增多症,与异位库欣综合症和色素性结节性肾上腺皮质病、原发性1型有关,症状包括库欣面容。与康氏综合症相关的重要基因是USP8(泛素特异性肽酶8),其相关通路/超级通路包括传染病和代谢。在该疾病的背景下,已提到的药物有溴隐亭和利拉鲁肽。附属组织包括垂体和肾上腺,相关表型为循环皮质醇水平增加和地塞米松抑制试验中悖论性皮质醇分泌增加。
Related ID:
MALACARDS:CNN003
MESH:D003480
ICD11:1646144829
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
全年龄段
1-9/100000
125
1389
18
CNN003
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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