Hypomagnesemia 5, Renal, with or Without Ocular Involvement (HOMG5)

肾性低镁血症5型伴有或不伴有眼部受累(来自ICD-11)

别称:

Fhhnc with Severe Ocular Involvement

Renal Hypomagnesemia 5 with Ocular Involvement

Hypercalciuria-Bilateral Macular Coloboma Syndrome

Meier-Blumberg-Imahorn Syndrome

Familial Hypomagnesemia with Hypercalciuria, Nephrocalcinosis and Severe Ocular Involvement

Hypomagnesemia 5, Renal, with Ocular Involvement

Hypomagnesemia, Renal, with Ocular Involvement

Meier Blumberg Imahorn Syndrome

Homg5

Hypomagnesemia, Familial, with Hypercalciuria, Nephrocalcinosis, and Severe Ocular Involvement

Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocular Involvement

Primary Hypomagnesemia with Hypercalciuria and Nephrocalcinosis with Severe Ocul

Hypomagnesemia, Type 5, Renal, with Ocular Involvement

Macular Coloboma, Bilateral, with Hypercalciuria

Bilateral Macular Coloboma with Hypercalciuria

Hypomagnesemia 5 Renal with Ocular Involvement

Macular Coloboma Bilateral with Hypercalciuria

Hypomagnesemia Renal with Ocular Involvement

Hypomagnesemia 5

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

低镁血症5型，肾性，伴有或不伴有眼部受累，也称为fhhnc伴有严重眼部受累，与低镁血症3型，肾性和原发性低镁血症伴高钙尿症和肾钙化有关。与低镁血症5型，肾性，伴有或不伴有眼部受累相关的基因是CLDN19（Claudin 19），其相关通路/超通路包括Sertoli-Sertoli细胞连接动力学和细胞连接组织。相关组织包括眼睛和肾脏，相关表型为眼震和视网膜色素沉着异常。

查看原文参与反馈