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。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
未知
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1
13
6

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
No Data Found!
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