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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
Microcephaly
Alias:
Microencephaly
Microcephalus
Congenital Microcephaly
Brain Nondevelopment
Undeveloped Cerebrum
Cephalic Hypoplasia
Undeveloped Brain
Brain Hypoplasia
Micrencephalon
Microcephalic
Micrencephaly
Nanocephaly
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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
小头症,也称为小脑症,与原发性常染色体隐性小头症和原发性小头症有关。与小头症有关的重要基因是ASPM(纺锤体微管装配因子),其相关通路/超通路包括细胞周期、有丝分裂和DNA损伤。相关组织包括大脑和皮层,相关表型包括MUS81-/-和MUS81+/+之间的负遗传相互作用和减少的乳腺囊泡形成。
Related ID:
MALACARDS:MCR010
MESH:D008831
ICD11:179350437
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
--
626
5558
12
MCR010
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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