Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, and Ear Anomalies Syndrome (CHIME)

眼部缺损-先天性心脏病-鱼鳞病样皮肤病-智力发育受损-耳异常综合征(来自ICD-11)

别称:

Chime Syndrome

Zunich Neuroectodermal Syndrome

Zunich-Kaye Syndrome

Coloboma-Congenital Heart Disease-Ichthyosiform Dermatosis-Intellectual Disability-Ear Anomalies Syndrome

Congenital Disorder of Glycosylation Due to Pigl Deficiency

Neuroectodermal Dysplasia, Chime Type

Neuroectodermal Syndrome, Zunich Type

Pigl-Cdg

Glycosylphosphatidylinositol Biosynthesis Defect 5

Gpibd5

Chime

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies Syndrome

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, and Ear Anomalies Syndrome

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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

Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, and Ear Anomalies Syndrome, also known as chime syndrome, is related to coloboma of macula and brachydactyly, and has symptoms including seizures. An important gene associated with Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, and Ear Anomalies Syndrome is PIGL (Phosphatidylinositol Glycan Anchor Biosynthesis Class L), and among its related pathways/superpathways are Metabolism of proteins and Post-translational modification: synthesis of GPI-anchored proteins. Affiliated tissues include heart and skin, and related phenotypes are intellectual disability and ptosis.

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