Neutropenia, Severe Congenital, 4, Autosomal Recessive (SCN4)

Alias:
Dursun Syndrome
Neutropenia, Severe Congenital 4, Autosomal Recessive
Scn4
Autosomal Recessive Severe Congenital Neutropenia Due to G6pc3 Deficiency
Pulmonary Arterial Hypertension Leukopenia and Atrial Septal Defect
Neutropenia, Severe Congenital, Type 4, Autosomal Recessive
Neutropenia, Severe Congenital, Autosomal Recessive 4
Durss
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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,4,常染色体隐性,也称为杜森综合症,与严重先天性中性粒细胞减少症4和G6PC3缺乏症有关。与中性粒细胞减少症,严重先天性,4,常染色体隐性相关的基因是G6PC3(葡萄糖-6-磷酸酶催化亚基3)。附属组织包括中性粒细胞和骨髓,相关表型为全球发育延迟和肾积水
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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1
4
26

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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