Familial Isolated Hypoparathyroidism (FIH)

Familial Isolated Hypoparathyroidism(来自ICD-11)
别称:
Hypoparathyroidism Familial Isolated
Fih
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Familial Isolated Hypoparathyroidism, also known as hypoparathyroidism familial isolated, is related to hypoparathyroidism, familial isolated, 1 and hyperphosphatemia. An important gene associated with Familial Isolated Hypoparathyroidism is PTH (Parathyroid Hormone), and among its related pathways/superpathways are Signal Transduction and Development_Hedgehog and PTH signaling pathways in bone and cartilage development. Affiliated tissues include eye and kidney, and related phenotypes are seizure and short stature
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基础信息

遗传方式
发病时间
患病率/发病率
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参考文献
MALACARDS
XLD
AD
AR
XL
All ages
<1/1000000
16
103
4

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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疾病模型

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MGI
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