Combined Oxidative Phosphorylation Deficiency 44 (COXPD44)

Alias:
Coxpd44
Fastkd2-Related Infantile Mitochondrial Encephalomyopathy
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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
复合氧化磷酸化缺陷44,也称为coxpd44,与莱伊综合症有关。与复合氧化磷酸化缺陷44有关的重要基因是FASTKD2(FAST激酶域2)。相关组织包括骨骼肌和大脑,相关表型为癫痫和全球发育延迟。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
1
4
3

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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