Deafness, Autosomal Dominant 1, with or Without Thrombocytopenia (DFNA1)

Alias:

Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome

Konigsmark Syndrome

Dfna1

Autosomal Dominant Nonsyndromic Deafness 1

Deafness, Autosomal Dominant 1

Lfhl1

Autosomal Dominant Deafness 1, with or Without Thrombocytopenia

Diaph1-Related Sensorineural Deafness-Thrombocytopenia Syndrome

Non-Syndromic Sensorineural Deafness Autosomal Dominant Type 1

Non-Syndromic Neurosensory Deafness Autosomal Dominant Type 1

Hereditary Low-Frequency Sensorineural Hearing Loss

Autosomal Dominant Nonsyndromic Hearing Loss 1

Hereditary Low Frequency Hearing Loss 1

Hereditary Low-Frequency Hearing Loss

Deafness, Autosomal Dominant, Type 1

Autosomal Dominant Deafness 1

Lfsnhl1

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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

先天性聋，常染色体显性1型，伴有或不伴有血小板减少症，也称为diaph1相关感觉神经性听力损失-血小板减少症综合征，与先天性聋，常染色体显性6和非综合征性听力损失有关。与先天性聋，常染色体显性1型，伴有或不伴有血小板减少症相关的基因是DIAPH1（Diaphanous相关Formin 1），其相关通路/超级通路包括整合素通路和甜味信号通路。相关组织包括大脑，相关表型为血小板减少症和进行性感觉神经性听力损失。

Related ID：

MALACARDS：DFN384

OMIM：124900

MESH：D006319