Autoimmune Polyendocrine Syndrome, Type I, with or Without Reversible Metaphyseal Dysplasia (APS1)

自身免疫性多内分泌腺病综合征I型伴或不伴可逆性干骺端发育不良(来自ICD-11)

别称:

Apeced

Autoimmune Polyendocrinopathy Syndrome , Type I, with or Without Reversible Metaphyseal Dysplasia

Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy

Polyglandular Autoimmune Syndrome, Type 1

Pga I

Aps1

Hypoadrenocorticism with Hypoparathyroidism and Superficial Moniliasis

Polyglandular Type I Autoimmune Syndrome

Autoimmune Polyendocrine Syndrome 1, with or Without Reversible Metaphyseal Dysplasia

Polyendocrinopathy Autoimmune, Type 1, with/without Reversible Metaphyseal Dysplasia

Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy

Autoimmune Polyendocrinopathy Syndrome, Type I, Autosomal Dominant

Autosomal Dominant Autoimmune Polyendocrinopathy Syndrome Type I

Polyglandular Deficiency Syndrome Persian-Jewish Type

Autoimmune Polyendocrinopathy Syndrome Type 1

Autoimmune Polyendocrinopathy Syndrome Type I

Autoimmune Polyglandular Syndrome, Type I

Polyglandular Autoimmune Syndrome, Type I

Autoimmune Polyglandular Syndrome, Type 1

Autoimmune Polyendocrine Syndrome Type I

Polyglandular Autoimmune Syndrome Type I

Whitaker Syndrome

Aire Deficiency

Aps Type 1

Aps I

Aps-1

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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

自身免疫性多内分泌病，类型I，伴有或不伴有可逆性骨骺发育不良，也称为apeced，与自身免疫性多内分泌病类型II和自身免疫性多内分泌病类型1有关，症状包括腹泻。与自身免疫性多内分泌病，类型I，伴有或不伴有可逆性骨骺发育不良有关的重要基因是AIRE（自身免疫调节器），其相关通路/超通路包括细胞色素P450介导的代谢和氧化。在该疾病的背景下，已提到的药物有羟基脲和谷氨酸。附属组织包括肾上腺和皮肤，相关表型为色素性视网膜病变和视野边缘收缩。

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