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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
Ocular Motor Apraxia (COMA)
Alias:
Coma
Oculomotor Apraxia, Congenital, Cogan-Type
Cogan-Type Congenital Oculomotor Apraxia
Saccade Initiation Failure, Congenital
Oculomotor Apraxia, Cogan Type
Oculomotor Apraxia
Comatose
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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
眼动性失用症,也称为昏迷,与眼动性失用症和青少年肾小管性肾病有关,症状包括背痛、头晕和头痛。与眼动性失用症有关的重要基因是COMA(Cogan型先天性眼动性失用症)。在该疾病的背景下提到了Cangrelor和Ticagrelor这两种药物。附属组织包括大脑和眼睛,相关表型是肾小管性肾病和眼动性失用症。
Related ID:
MALACARDS:OCL069
OMIM:257550
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
3
16
15
OCL069
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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