Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia Syndrome (HDRS)

甲状旁腺功能减退症-感音神经性耳聋-肾发育不良综合征(来自ICD-11)

别称:

Barakat Syndrome

Hypoparathyroidism, Sensorineural Deafness, and Renal Dysplasia

Hdr Syndrome

Hypoparathyroidism-Sensorineural Hearing Loss-Renal Disease Syndrome

Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome

Hypoparathyroidism, Sensorineural Deafness, and Renal Disease

Nephrosis, Nerve Deafness, and Hypoparathyroidism

Hdr

Hypoparathyroidism, Deafness, Renal Disease Syndrome

Hypoparathyroidism Nerve Deafness Nephrosis

Nephrotic Syndrome

Nephrosis

Hdrs

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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

低钙血症、感觉神经性耳聋和肾发育不良综合症，又称巴拉卡特综合症，与肾炎和慢性肾病有关。与低钙血症、感觉神经性耳聋和肾发育不良综合症相关的基因是GATA3（GATA结合蛋白3），其相关通路/超级通路包括细胞连接组织和肾细胞线粒标记。在该疾病的背景下，恩替卡韦和醋酸唑胺已被提及。附属组织包括肾和心，相关表型为低钙血症和肾发育不良。

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