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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
Hjv or Hamp-Related Hemochromatosis
Alias:
Juvenile Hemochromatosis
Hemochromatosis Type 2
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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
Hjv或Hamp相关的血色素沉着症,也称为青少年血色素沉着症,与血色素沉着症2型和血色素沉着症2b有关。与Hjv或Hamp相关的血色素沉着症有关的重要基因是HAMP(Hepcidin Antimicrobial Peptide),其相关通路/超级通路包括TAR综合征和铁代谢障碍。附属组织包括肝脏和胰腺,相关表型为铁稳态异常和先天性肝纤维化。
Related ID:
MALACARDS:HJV002
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
--
未知
<1/1000000
2
26
--
HJV002
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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