Amelogenesis Imperfecta, Type Ig (AI1G)

Amelogenesis Imperfecta, Type Ig(来自ICD-11)
别称:
Enamel-Renal Syndrome
Amelogenesis Imperfecta Type 1g
Ers
Amelogenesis Imperfecta and Gingival Fibromatosis Syndrome
Enamel-Renal-Gingival Syndrome
Aigfs
Ai1g
Amelogenesis Imperfecta-Nephrocalcinosis Syndrome
Amelogenesis Imperfecta Nephrocalcinosis
Amelogenesis Imperfecta, Hypoplastic, with Nephrocalcinosis
Amelogenesis Imperfecta Hypoplastic with Nephrocalcinosis
Hypoplastic Amelogenesis Imperfecta with Nephrocalcinosis
Amelogenesis Imperfecta Type Ig
Amelogenesis Imperfecta 1g
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Amelogenesis Imperfecta, Type Ig, also known as enamel-renal syndrome, is related to amelogenesis imperfecta hypoplastic type, ig and amelogenesis imperfecta, and has symptoms including polyuria An important gene associated with Amelogenesis Imperfecta, Type Ig is FAM20A (FAM20A Golgi Associated Secretory Pathway Pseudokinase), and among its related pathways/superpathways are Gene expression (Transcription) and GPCR Pathway. Affiliated tissues include kidney and heart, and related phenotypes are gingival overgrowth and nephropathy
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基础信息

遗传方式
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参考文献
MALACARDS
AR
Child
<1/1000000
60
815
17

疾病表征

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基因 & 突变

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靶点药物

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临床阶段
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MGI
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