Ichthyosis, Congenital, Autosomal Recessive 1 (ARCI1)

常染色体隐性先天性鱼鳞病1型(来自ICD-11)

别称:

Autosomal Recessive Congenital Ichthyosis 1

Ichthyosis Congenita Ii

Collodion Fetus

Lamellar Exfoliation of Newborn

Desquamation of Newborn

Ichthyosis Congenita

Arci1

Ichthyosis, Congenital, Autosomal Recessive 1, with Bathing Suit Distribution

Ichthyosis, Lamellar, 1, Formerly

Collodion Baby, Self-Healing

Self-Healing Collodion Baby

Bathing Suit Ichthyosis

Shcb

Icr2

Autosomal Recessive Congenital Ichthyosis 1 with Bathing Suit Distribution

Autosomal Recessive Congenital Ichthyosis Tgm1-Related

Ichthyosis, Congenital, Autosomal Recessive, Type 1

Non-Erythrodermic Ichthyosis

Lamellar Ichthyosis 1

Congenital Ichthyosis

Li1, Formerly

Bsi

Li1

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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

先天性鱼鳞病1型，又称常染色体隐性先天性鱼鳞病1型，与先天性鱼鳞病3型和自愈性胶质膜婴儿有关，症状包括内卷毛发症。与先天性鱼鳞病1型有关的重要基因是TGM1（转谷氨酰胺酶1），其相关通路/超级通路包括前列腺素2生物合成和代谢FM。该疾病的相关药物包括乌司奴单抗和皮肤科药物。相关组织包括表皮、皮肤和眼睛，相关表型为鱼鳞病和增厚的皮肤。

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