Osteopathia Striata with Cranial Sclerosis (OSCS)

Alias:
Hyperostosis Generalisata with Striations
Robinow-Unger Syndrome
Osteopathia Striata Cranial Sclerosis
Osteopathia Striata-Cranial Sclerosis Syndrome
Oscs
Amer1-Related Osteopathia Striata with Cranial Sclerosis
Horan-Beighton Syndrome
Os-Cs
Osc
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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
骨硬化性条纹病,又称广泛性条纹性骨硬化症,与髋关节发育不良和腭裂相关的颅中轴骨硬化症,孤立存在,症状包括呼吸暂停和头痛。与骨硬化性条纹病相关的基因是AMER1(APC膜招募蛋白1)。相关组织包括骨和心脏,相关表型包括颅骨增厚和骨矿物质密度增加。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X隐
新生儿
<1/1000000
7
20
27

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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