Corticosterone Methyloxidase Deficiency

Alias:
Corticosterone 18-Monooxygenase Deficiency
Aldosterone Deficiency Due to Deficiency of Steroid 18-Hydroxylase
Aldosterone Deficiency Due to Deficiency of Steroid 18-Oxidase
Corticosterone Methyl Oxidase Type Ii Deficiency
Corticosterone Methyl Oxidase Type I Deficiency
Familial Hyperreninemic Hypoaldosteronism
Corticosterone Methyl Oxidase Deficiency
Steroid 18-Hydroxylase Deficiency
Aldosterone Synthase Deficiency
Steroid 18-Oxidase Deficiency
Congenital Hypoaldosteronism
18-Hydroxylase Deficiency
Aldosterone Deficiency
18-Oxidase Deficiency
Visser-Cost Syndrome
Hypoaldosteronism
Cmo Deficiency
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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
皮质醇甲氧基化酶缺乏症,又称皮质醇18-单氧合酶缺乏症,与皮质醇甲氧基化酶I型缺乏症和低醛固酮症有关,症状包括呕吐。与皮质醇甲氧基化酶缺乏症相关的重要基因是CYP11B2(细胞色素P450家族11亚家族B成员2)。该疾病的相关药物包括氟氢可的松和抗炎药。相关组织包括肾上腺和脂肪细胞。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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未知
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1
11
7

Medical Symptom

#
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

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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