Mandibuloacral Dysplasia with Type a Lipodystrophy (MADA)

下颌骨末端发育不良伴A型脂肪代谢障碍(来自ICD-11)

别称:

Mandibuloacral Dysplasia

Mada

Craniomandibular Dermatodysostosis

Mandibuloacral Dysostosis

Mad

Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia

Lipodystrophy Type a Associated with Mandibuloacral Dysplasia

Mandibuloacral Dysplasia with Type a Lipodystrophy, Atypical

Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical

Tendinous Calcinosis Arthropathy and Progeroid Features

Dysplasia, Mandibuloacral, with Type a Lipodystrophy

Mandibuloacral Dysplasia Type a Lipodystrophy

Dysplasia, Mandibuloacral

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

下颌-躯干发育不良伴型a脂肪营养不良，也称为下颌-躯干发育不良，与哈钦森-吉尔福德早老症和骨萎缩有关，其症状包括关节僵硬。与下颌-躯干发育不良伴型a脂肪营养不良有关的重要基因是LMNA（Lamin A/C），其相关通路/超通路包括脂肪生成和信号转导通路在LMNA型病中的重叠。相关组织包括皮肤和骨骼，相关表型包括高腭和矮小。

查看原文参与反馈