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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, Type 1 (CNC1)
Alias:
Carney Syndrome
Name Syndrome
Car
Myxoma, Spotty Pigmentation, and Endocrine Overactivity
Carney Myxoma-Endocrine Complex
Lamb Syndrome
Cnc1
Myxoma-Spotty Pigmentation-Endocrine Overactivity
Carney Complex 1
Carney Complex
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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
卡内综合征1型,又称卡内综合征,与卡内综合征2型和卡内综合征变异型有关。与卡内综合征1型有关的重要基因是PRKAR1A(蛋白激酶CAMP依赖型I调节亚基α)。附属组织包括皮肤和心脏,相关表型为腭黏液瘤和多发性色素沉着斑。
Related ID:
MALACARDS:CRN243
OMIM:160980
MESH:D056733
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
10
75
CRN243
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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