Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive (SHFM1D)

常染色体隐性手足裂畸形伴感觉神经性耳聋(来自ICD-11)

别称:

Split Hand-Foot Malformation 1 with Sensorineural Hearing Loss

Shfm1d

Split-Hand/foot Malformation, Type 1 with Sensorineural Hearing Loss

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss

Split-Hand-Foot Malformation with Sensorineural Hearing Loss

Deafness, Congenital, with Split Hands and Feet

Congenital Deafness with Split Hands and Feet

Congenital Deafness and Split Hands and Feet

Split Hand-Split Foot-Hearing Loss Syndrome

Split Hand-Split Foot-Deafness 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

Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive（分裂手足畸形1伴感觉神经性听力损失，常染色体隐性遗传），又称为分裂手足畸形1伴感觉神经性听力损失，与分裂手足畸形5和分裂手足畸形2有关。Split-Hand/foot Malformation 1 with Sensorineural Hearing Loss, Autosomal Recessive相关的基因有DLX5（远端缺失同源盒5），其相关通路/超通路包括神经嵴分化和deltaNp63异构体的验证转录靶标。相关组织包括骨，相关表型包括感觉神经性听力损伤和分裂手。

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