Thrombophilia Due to Protein S Deficiency, Autosomal Recessive (THPH6)

Alias:
Thph6
Autosomal Recessive Thrombophilia Due to Congenital Protein S Deficiency
Severe Hereditary Thrombophilia Due to Congenital Protein S Deficiency
Thrombophilia 5 Due to Protein S Deficiency, Autosomal Recessive
Autosomal Recessive Thrombophilia Due to Protein S Deficiency
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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
蛋白S缺乏症,常染色体隐性型,也称为thph6,与蛋白S缺乏症,常染色体显性型有关。与蛋白S缺乏症,常染色体隐性型相关的重要的基因是PROS1(蛋白S)。相关组织包括骨和皮肤,相关表型为紫癜和视网膜病变。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
1
8
68

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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