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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
Menke-Hennekam Syndrome 1 (MKHK1)
Alias:
Mkhk1
Menke-Hennekam Syndrome, Type 1
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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
Menke-Hennekam Syndrome 1(mkhk1)与Menke-Hennekam Syndrome 2和Hennekam淋巴管扩张-淋巴水肿综合征1有关。Menke-Hennekam Syndrome 1相关的重要基因是CREBBP(CREB结合蛋白)。相关组织包括眼睛和肺,相关表型为智力障碍和喂养困难。
Related ID:
MALACARDS:MNK005
OMIM:618332
MESH:D000015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
--
1
13
6
MNK005
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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