Overhydrated Hereditary Stomatocytosis (OHST)

Alias:
Ohs
Potassium Sodium Disorder of Erythrocyte
Ohst
Hereditary, Overhydrated, Cation-Leak Stomatocytosis
Potassium-Sodium Disorder of Erythrocyte
Overhydrated Cation Leak Stomatocytosis
Stomatocytosis, Overhydrated Hereditary
Stomatocytosisiohst
Stomatocytosis I
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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
过度水合遗传性口疮,也称为OHs,与遗传性口疮和溶血性贫血有关,症状包括黄疸。与过度水合遗传性口疮有关的重要基因是RHAG(Rh相关糖蛋白),其相关通路/超通路包括无机离子/酸的运输和氨基酸/寡肽和红细胞吸收二氧化碳并释放氧气。附属组织包括骨髓和骨,相关表型为溶血性贫血和网织红细胞增多症。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常显
新生儿
<1/1000000
16
83
31

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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