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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 10, Primary, Autosomal Recessive (MCPH10)
Alias:
Microcephalic Primordial Dwarfism Due to Znf335 Deficiency
Mcph10
Primary Autosomal Recessive Microcephaly 10
Microcephaly, Type 10, Primary, Autosomal Recessive
Microcephalic Primordial Dwarfism, Walsh Type
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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
微小头畸形10型,常染色体隐性,也称为由于ZNF335缺乏导致的微小头畸形原发性矮小症,与微小头畸形和原发性常染色体隐性微小头畸形有关,症状包括肌肉痉挛。与微小头畸形10型,常染色体隐性相关的基因是ZNF335(锌指蛋白335),其相关通路/超级通路包括细胞周期、有丝分裂和EML4和NUDC在有丝分裂纺锤体形成中的作用。相关组织包括皮质和大脑,相关表型为微小头畸形和脑室扩大。
Related ID:
MALACARDS:MCR223
OMIM:615095
MESH:D008831
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
<1/1000000
10
53
4
MCR223
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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