Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC)

遗传性平滑肌瘤病和肾细胞癌(来自ICD-11)

别称:

Hlrcc

Multiple Cutaneous and Uterine Leiomyomata

Leiomyomatosis and Renal Cell Cancer

Lrcc

Mcul

Mcl

Hereditary Leiomyomatosis with Renal Carcinoma

Familial Leiomyomatosis and Renal Cell Cancer

Familial Leiomyomatosis with Renal Carcinoma

Multiple Cutaneous and Uterine Leiomyomas

Hereditary Multiple Cutaneous Leiomyomas

Familial Leiomyomatosis Cutis Et Uteri

Familial Multiple Cutaneous Leiomyomas

Hereditary Leiomyomatosis

Reed Syndrome

Mcul1

Multiple Cutaneous and Uterine Leiomyomata 1, with or Without Renal Cell Carcinoma

Multiple Cutaneous and Uterine Leiomyomata 1 with or Without Renal Cell Carcinoma

Hereditary Leiomyomatosis and Renal Cell Carcinoma

Leiomyomatosis and Renal Cell Cancer, Hereditary

Leiomyomatosis and Renal Cell Cancer Hereditary

Leiomyoma, Multiple Cutaneous

Multiple Cutaneous Leiomyomas

Multiple Cutaneous Leiomyoma

Leiomyoma Multiple Cutaneous

Reed's Syndrome

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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

遗传性平滑肌瘤和肾细胞癌，也称为 hlrcc，与肾细胞癌、乳头状瘤和 fumarate hydratase 缺陷有关，其症状包括侧腹痛。与遗传性平滑肌瘤和肾细胞癌相关的基因是 FH（fumarate hydratase），其相关通路/超级通路包括呼吸电子传递、化学偶联 ATP 合成和热能产生、以及糖酵解（BioCyc）。在该疾病的背景下，已提到的药物包括乙酰胆碱和阿特佐利单抗。相关组织包括肾脏和皮肤，相关表型为肌肉异常和多发性皮肤平滑肌瘤。

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