Thyroid Dyshormonogenesis 6 (TDH6)

Alias:
Tdh6
Genetic Defect in Thyroid Hormonogenesis 6
Congenital Hypothyroidism Due to Dyshormonogenesis Type 6
Hypothyroidism, Congenital, Due to Dyshormonogenesis, 6
Thyroid Hormonogenesis, Genetic Defect in, 6
Thyroid Dyshormonogenesis, Type 6
Chdh6
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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
甲状腺激素生成障碍6,也称为tdh6,与彭德雷综合征和家族性甲状腺激素生成障碍有关。与甲状腺激素生成障碍6有关的重要基因是DUOX2(双氧化酶2),其相关通路/超通路包括异体移植排斥和CD3和TCR zeta链磷酸化。附属组织包括甲状腺,相关表型包括甲状腺功能减退症和先天性甲状腺功能减退症。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
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9
37
24

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
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No data available

Related Drugs

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No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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