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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Reticular Dysgenesis (RDYS)
Alias:
De Vaal Disease
Severe Combined Immunodeficiency with Leukopenia
Aleukocytosis
Hematopoietic Hypoplasia, Generalized
Generalized Hematopoietic Hypoplasia
Congenital Aleukocytosis
Scid with Leukopenia
Congenital Aleukia
Ak2 Deficiency
Reticular Dysgenesia
Rdys
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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
网状发育不良,又称德瓦尔病,与免疫性红细胞增多症和淋巴细胞减少症有关。与网状发育不良有关的重要基因是AK2(腺苷酸激酶2),其相关通路/超级通路包括代谢和背角神经元的神经病理性疼痛信号通路。在该疾病的背景下提到了Busulfan和Fludarabine这两种药物。附属组织包括胸腺和骨髓,相关表型为听力障碍和慢性中耳炎。
Related ID:
MALACARDS:RTC002
OMIM:267500
MESH:C538361
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
21
280
22
RTC002
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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