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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
Carney Complex Variant (CACOV)
Alias:
Carney Complex
Carney Syndrome
Myxoma-Spotty Pigmentation-Endocrine Overactivity Syndrome
Carney Complex - Trismus - Pseudocamptodactyly Syndrome
Carney Complex, Type 1
Lamb - Lentigines, Atrial Myxoma, Mucocutaneous Myoma, Blue Nevus Syndrome
Name - Nevi, Atrial Myxoma, Skin Myxoma, Ephelides Syndrome
Carney Complex-Trismus-Pseudocamptodactyly Syndrome
Carney Complex, Type 2
Name Syndrome
Lamb Syndrome
Cacov
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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
Carney 复合症变异,也称为 Carney 复合症,与色素性结节性肾上腺皮质病、原发性 1 和垂体巨人症有关。与 Carney 复合症变异有关的重要基因是 MYH8(肌球蛋白重链 8),其相关通路/超级通路包括代谢和 ERK 信号通路。附属组织包括皮肤和垂体,相关表型为色素性微结节性肾上腺皮质病和多处咖啡斑。
Related ID:
MALACARDS:CRN038
OMIM:608837
MESH:D056733
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
50
610
17
CRN038
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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