Schimmelpenning-Feuerstein-Mims Syndrome (SFM)

Alias:
Nevus Sebaceus of Jadassohn
Schimmelpenning Syndrome
Linear Nevus Sebaceous Syndrome
Organoid Nevus Phakomatosis
Solomon Syndrome
Jadassohn Nevus Phakomatosis
Nevus Sebaceus Syndrome
Organoid Nevus Syndrome
Sfm Syndrome
Jnp
Schimmelpenning-Feuerstein-Mims Syndrome, Somatic Mosaic
Linear Sebaceous Nevus Syndrome
Linear Nevus Sebaceus Syndrome
Sfm
Schimmelpenning Feuerstein Mims Syndrome
Epidermal Nevus Syndrome, Formerly
Sebaceous Nevus Syndrome, Linear
Epidermal Nevus Syndrome
Nevus Sebaceous
Ss
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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
Schimmelpenning-Feuerstein-Mims 综合征,又称 Jadassohn 的皮脂腺痣,与黑素细胞痣综合征、先天性皮样囊肿腺瘤和皮样囊肿有关,症状包括癫痫发作。与 Schimmelpenning-Feuerstein-Mims 综合征相关的重要基因是 KRAS (KRAS Proto-Oncogene, GTPase),其相关通路/超通路包括传染性疾病和信号转导。在该疾病的背景下,已提到的药物包括免疫球蛋白和抗体。附属组织包括皮肤和眼睛,相关表型为智力障碍和癫痫发作。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
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新生儿
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Medical Symptom

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Description
HPO Frequency
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HPO Source Accession
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Gene & Mutation

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Related Drugs

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Disease Model

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MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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No Data Found!
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