Neutropenia, Severe Congenital, 5, Autosomal Recessive (SCN5)

Alias:
Scn5
Neutropenia, Congenital, Severe, Type 5, Autosomal Recessive
Congenital Neutropenia-Myelofibrosis-Nephromegaly Syndrome
Neutropenia, Severe Congenital 5, Autosomal Recessive
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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
中性粒细胞减少症,严重先天性,5,常染色体隐性,也称为SCN5,与严重先天性中性粒细胞减少症5有关。与中性粒细胞减少症,严重先天性,5,常染色体隐性相关的基因是VPS45(Vacuolar Protein Sorting 45 Homolog)。相关组织包括骨髓和中性粒细胞,相关表型为生长发育迟缓和脾肿大。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
4

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
Year
IF
No Data Found!
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