Lowe Oculocerebrorenal Syndrome (OCRL)

Lowe眼脑肾综合征(来自ICD-11)

别称:

Lowe Syndrome

Oculocerebrorenal Syndrome

Oculocerebrorenal Syndrome of Lowe

Ocrl

Phosphatidylinositol 4,5-Biphosphate 5-Phosphatase Deficiency

Lowe Disease

Lowe Oculo-Cerebro-Renal Dystrophy

Lowe Oculo-Cerebro-Renal Syndrome

Lowe Oculocerebrorenal Dystrophy

Phosphatidylinositol 4,5-Bisphosphate 5-Phosphatase Deficiency

Phosphatidylinositol-4,5-Bisphosphate-5-Phosphatase Deficiency

Ocrl1 - [oculocerebrorenal Syndrome]

Chromosome 11p Deletion Syndrome

Lowe-Terrey-Maclachlan Syndrome

Cerebro-Oculorenal Dystrophy

Oculocerebrorenal Dystrophy

Renal-Oculocerebrodystrophy

Cerebrooculorenal Syndrome

Ocrl1

Low

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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

洛伊氏眼脑肾病，又称洛伊氏综合症，与牙病2型和唐纳-巴罗综合症有关，症状包括便秘。与洛伊氏眼脑肾病有关的重要基因是OCRL（OCRL Inositol Polyphosphate-5-Phosphatase），其相关通路/超级通路包括代谢和囊泡介导的运输。在该疾病的背景下提到了药物雷帕霉素和苯佐卡因。相关组织包括眼睛和肾脏，相关表型为智力障碍和眼震。

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