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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
Hydrops Fetalis, Nonimmune (NIHF)
Alias:
Non-Immune Hydrops Fetalis
Nihf
Hemoglobin Bart's Hydrops Syndrome
Alpha-Thalassemia Hydrops Fetalis
Hemoglobin Bart's Hydrops Fetalis
Homozygous Alpha0-Thalassemia
Hydrops Fetalis, Non-Immune
Hb Bart's Hydrops Fetalis
Non-Immune Fetal Hydrops
Alpha-Thalassemia Major
Non-Immune Fetal Edema
Hydrops Fetalis
Non-Immune Hf
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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
胎儿水肿,非免疫性,又称非免疫性胎儿水肿,与胎儿水肿和地中海贫血有关,症状包括水肿和橘皮样皮肤。与胎儿水肿,非免疫性相关的基因是HBA2(血红蛋白亚基α2),其相关通路/超级通路包括前列腺癌中的雄激素受体网络和腺样囊性癌影响的通路。在该疾病的背景下提到了抗心律失常药物和克里萨罗宾。附属组织包括心脏和胎盘,相关表型为贫血和充血性心力衰竭。
Related ID:
MALACARDS:HYD038
OMIM:236750
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
胎儿期
1-9/100000
23
164
12
HYD038
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
#
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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