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COL4A5 c.1390G>A
ALS1
DMD c.1332-11868C>G
TP53
肌萎缩侧索硬化症1型
USH2A c.8559-2A>G
囊性纤维化
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中文
罕见病
Cinca Syndrome (CINCA)
Alias:
Neonatal-Onset Multisystem Inflammatory Disease
Infantile-Onset Multisystem Inflammatory Disease
Cryopyrin-Associated Periodic Syndrome 3
Prieur-Griscelli Syndrome
Iomid Syndrome
Nomid Syndrome
Cinca
Chronic Infantile Neurological, Cutaneous and Articular Syndrome
Chronic Infantile Neurological Cutaneous and Articular Syndrome
Chronic Neurologic Cutaneous and Articular Syndrome
Nomid
Caps3
Chronic Infantile Neurological, Cutaneous, and Articular Syndrome
Chronic, Infantile, Neurological, Cutaneous, Articular Syndrome
Chronic Infantile Neurologic Cutaneous and Articular Syndrome
Chronic Infantile Neurological Cutaneous Articular Syndrome
Multisystem Inflammatory Disease, Neonatal-Onset
Neonatal Onset Multisystem Inflammatory Disease
Cryopyrin-Associated Periodic Syndromes
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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
辛卡综合症,又名新生儿多系统炎症疾病,与冷凝蛋白相关周期性综合征和皮疹有关,症状包括反复发热。辛卡综合症相关的重要基因是NLRP3(NLR家族Pyrin域包含3),其相关通路/超级通路包括传染病和先天免疫系统。在该疾病的背景下提到了人参和聚卡波非钙。附属组织包括皮肤和脊髓,相关表型为恶心和呕吐和听力障碍。
Related ID:
MALACARDS:CNC002
OMIM:607115
MESH:D056587
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
--
26
342
14
CNC002
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
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available
References Literature
Title
PMID
Journal
Year
IF
No Data Found!
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