Thrombocytopenia, Paris-Trousseau Type (TCPT)

Alias:
Paris-Trousseau Thrombocytopenia
Jacobsen Distal 11q Deletion Syndrome
Thrombocytopenia Paris-Trousseau Type
Chromosome 11q23 Deletion Syndrome
Tcpt
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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
血小板减少症,巴黎-特鲁瓦特型,又称巴黎-特鲁瓦特血小板减少症,与雅各布森综合症和血小板减少症有关,症状包括肌肉痉挛。与血小板减少症,巴黎-特鲁瓦特型有关的重要基因是TCPT(血小板减少症,巴黎-特鲁瓦特型)。附属组织包括骨髓和骨,相关表型为智力障碍和心血管系统异常。

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
新生儿
<1/1000000
1
11
7

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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