Crisponi/cold-Induced Sweating Syndrome 1 (CISS1)

Alias:
Crisponi Syndrome
Cold-Induced Sweating Syndrome 1
Sohar-Crisponi Syndrome
Ciss1
Muscle Contractions, Tetanoform, with Characteristic Face, Camptodactyly, Hyperthermia, and Sudden Death
Muscle Contractions Tetanoform with Characteristic Face Camptodactyly Hyperthermia and Sudden Death
Sweating Syndrome, Cold-Induced
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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
Crisponi/冷诱导出汗综合症1,也称为Crisponi综合症,与Crisponi/冷诱导出汗综合症2和冷诱导出汗综合症包括Crisponi综合症有关,症状包括呼吸困难、后仰和面部偏瘫。与Crisponi/cold-Induced Sweating Syndrome 1相关的基因是CRLF1(细胞因子受体样因子1),其相关通路/超级通路包括翻译、胰岛素调节翻译和白细胞介素-6家族信号传导。相关组织包括大脑,相关表型包括脊柱侧弯和大脸。
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
<1/1000000
9
37
18

Medical Symptom

#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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