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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
Arthrogryposis, Distal, Type 3 (DA3)
Alias:
Gordon Syndrome
Distal Arthrogryposis Type 3
Arthrogryposis Multiplex Congenita, Distal, Type Iia
Camptodactyly-Cleft Palate-Clubfoot Syndrome
Da3
Camptodactyly, Cleft Palate, and Clubfoot
Distal Arthrogryposis Type Iia
Distal Arthrogryposis Multiplex Congenita Type Iia
Pseudohypoaldosteronism, Type Ii
Arthrogryposis, Distal, 3
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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
Arthrogryposis, Distal, Type 3,也被称为 Gordon 综合征,与伪低醛固酮症,类型 iiE 和伪低醛固酮症,类型 iiA 有关。与 Arthrogryposis, Distal, Type 3 有关的重要基因是 PIEZO2 (Piezo 类型机械敏感离子通道成分 2),其相关通路/超通路包括无机离子/氨基酸/寡肽的运输和背角神经元的神经病理性疼痛信号传导。相关组织包括小脑和肾脏,相关表型包括 talipes 和 camptodactyly of finger。
Related ID:
MALACARDS:ART120
OMIM:114300
MESH:C537288
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
胎儿期
--
19
182
15
ART120
Medical Symptom
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Categorization
Description
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Orphanet Frequency
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No data available
Gene & Mutation
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Gene
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Score
Mutations
No data available
Related Drugs
Name
CAS Number
Status
Phase
No data available
Disease Model
Category
Name
MGI
Related Gene
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Publications
No data available
References Literature
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IF
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