Molybdenum Cofactor Deficiency (MOCOD)

Alias:
Combined Molybdoflavoprotein Enzyme Deficiency
Mocod
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase, and Aldehyde Oxidase
Combined Deficiency of Sulfite Oxidase, Xanthine Dehydrogenase and Aldehyde Oxidase
Combined Xanthine Oxidase and Sulfite Oxidase and Aldehyde Oxidase Deficiency
Deficiency of Molybdenum Cofactor
Deficiency, Molybdenum Cofactor
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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
钼硫黄蛋白酶复合物缺乏症,又称钼硫黄蛋白酶复合物缺乏症,与钼硫黄蛋白酶复合物缺乏症、补体组c和钼硫黄蛋白酶复合物缺乏症、补体组b有关。与钼硫黄蛋白酶复合物缺乏症有关的重要基因是MOCS1(钼硫黄蛋白合成1),其相关通路/超级通路包括代谢和水溶性维生素和辅因子的代谢。附属组织包括大脑,相关表型为肾/尿系统。
Related ID:
MESH:C535811

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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17
102
13

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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