Codas Syndrome (CODASS)

Codas Syndrome(来自ICD-11)
别称:
Cerebral, Ocular, Dental, Auricular, and Skeletal Anomalies Syndrome
Cerebrooculodentoauriculoskeletal Syndrome
Cerebral, Ocular, Dental, Auricular, and Skeletal Syndrome
Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome
Codass
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Codas Syndrome, also known as cerebral, ocular, dental, auricular, and skeletal anomalies syndrome, is related to even-plus syndrome and cataract. An important gene associated with Codas Syndrome is LONP1 (Lon Peptidase 1, Mitochondrial), and among its related pathways/superpathways are Peroxisomal lipid metabolism and Mitochondrial calcium ion transport. Affiliated tissues include bone and eye, and related phenotypes are cataract and global developmental delay
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Newborn
<1/1000000
14
75
7

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靶点药物

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MGI
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