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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
Moebius Syndrome (MBS)
Alias:
Mobius Syndrome
Oromandibular-Limb Hypogenesis Spectrum
Moebius Congenital Oculofacial Paralysis
Congenital Facial Diplegia
Moebius Sequence
Möbius Syndrome
Congenital Ophthalmoplegia and Facial Paresis
Mobius Ii Syndrome
Moebius Spectrum
Möbius Sequence
Mbs
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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
莫比乌斯综合症,又名莫比乌斯综合症,与眼外肌纤维化、先天性3a型、伴有或不伴有眼外肌和斜视有关,症状包括腭肌无力。与莫比乌斯综合症相关的重要基因是REV3L(REV3 Like,DNA Directed Polymerase Zeta Catalytic Subunit),其相关通路/超级通路包括胚胎干细胞的转录调控网络。附属组织包括眼睛和舌头,相关表型为上睑下垂和面瘫。
Related ID:
MALACARDS:MBS002
OMIM:157900
MESH:D020331
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
<1/1000000
18
146
39
MBS002
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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