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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
Corpus Callosum, Agenesis of (ACC)
Alias:
Corpus Callosum Agenesis
Agenesis of the Corpus Callosum
Congenital Malformation of Corpus Callosum
Congenital Absence of Corpus Callosum
Acc - [agenesis of Corpus Callosum]
Corpus Callosum, Agenesis Acc
Hypoplasia of Corpus Callosum
Deformity of Corpus Callosum
Hypoplastic Corpus Callosum
Absence of Corpus Callosum
Aplasia of Corpus Callosum
Absent Corpus Callosum
Acc
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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
胼胝体发育不全,又称胼胝体发育不全,与胼胝体发育不全、异常生殖器和X连锁2型脑裂畸形有关。与胼胝体发育不全有关的重要基因是ARID1B(AT-Rich Interaction Domain 1B),其相关通路/超级通路包括染色质调节/乙酰化和RUNX1与尚不清楚其对RUNX1靶点的确切影响的共因子相互作用。相关组织包括大脑和视网膜,相关表型为巨脑和智力障碍。
Related ID:
MALACARDS:CRP032
OMIM:217990
ICD11:2012425106
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
--
15
154
17
CRP032
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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