Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, and Seizures Syndrome (DOORS)

耳聋-甲营养不良-骨营养不良-智力发育受损-癫痫发作综合征(来自ICD-11)

别称:

Doors Syndrome

Door Syndrome

Digitorenocerebral Syndrome

Deafness-Onychoosteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Deafness-Onychodystrophy Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Deafness-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Eronen Syndrome

Drc Syndrome

Doors

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability-Seizures Syndrome

Hearing Loss-Onychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Hearing Loss-Onychoosteodystrophy-Intellectual Disability Syndrome

Autosomal Recessive Hearing Loss-Onychodystrophy Syndrome

Brachydactyly Due to Absence of Distal Phalanges

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, and Seizures Syndrome

Deafness, Onychodystrophy, Osteodystrophy, and Mental Retardation Syndrome

Deafness-Oncychodystrophy-Osteodystrophy-Intellectual Disability Syndrome

Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation Syndrome

Deafness, Congenital Onychodystrophy, Recessive Form

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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

耳聋、甲营养不良、骨质疏松、智力障碍和癫痫综合症，也被称为doors综合症，与耳聋、常染色体显性65和感音神经性听力损失有关，其症状包括癫痫发作。与耳聋、甲营养不良、骨质疏松、智力障碍和癫痫综合症有关的重要基因是TBC1D24（TBC1域家族成员24），其相关通路/超级通路包括声音感觉处理和氨基糖苷类耳毒性通路、不良药物反应通路。苯佐卡因和单宁酸已在该疾病的背景下被提及。相关组织包括皮肤和眼睛，相关表型为EEG异常和全球发育延迟。

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