Marfanoid-Progeroid-Lipodystrophy Syndrome (MFLS)

Alias:
Progeroid and Marfanoid Aspect-Lipodystrophy Syndrome
Marfan-Progeroid-Lipodystrophy Syndrome
Marfan Lipodystrophy Syndrome
Marfanoid-Progeroid Syndrome
Mfls
Lipodystrophy, Marfan Syndrome
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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
马凡-早老症-脂肪营养不良综合征,也称为早老症和马凡型脂肪营养不良综合征,与马凡综合征和阿克罗米克发育不良有关。与马凡-早老症-脂肪营养不良综合征有关的重要基因是FBN1(胶原蛋白1)。附属组织包括乳腺和骨骼,相关表型为高血压和大头症
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
1
19
9

Medical Symptom

#
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

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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