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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
Sickle Cell Disease (SKCA)
Alias:
Sickle Cell Anemia
Hemoglobin Sc Disease
Anemia, Sickle Cell
Hb Ss Disease
Hb-Ss Disease Without Crisis
Sickle Cell Trait
Hereditary Haemoglobinopathy Disorder Homozygous for Haemoglobin S
Hb-S - [sickle Cell Haemoglobin] Carrier
Sickle-Cell/hb-C Disease Without Crisis
Hbas - [sickle Cell Haemoglobin Trait]
Haemoglobin Sickle Cell Trait Disorder
Sickling Disorder Due to Haemoglobin S
Hb-Ss Disease with Vaso-Occlusive Pain
Sickling Disorder Due to Hemoglobin S
Sickle-Cell Trait Haemoglobin Disease
Hemoglobin S Disease Without Crisis
Hbas - [heterozygous Haemoglobin S]
Hb S Disease with Mention of Crisis
Sickle-Cell Anaemia Without Crisis
Haemoglobin Ss Disease with Crisis
Sickle-Cell Heterozygous Disorder
Sickle-Cell Disorder with Crisis
Sickle-Cell Haemoglobin Disease
Sickle-Cell Anaemia with Crisis
Heterozygous Sickle Cell Trait
Sickle Cell Haemoglobin Trait
Sickle-Cell Disease Carrier
Scd - [sickle Cell Disease]
Sca - [sickle Cell Anaemia]
Hb-Ss Disease with Crisis
Haemoglobin a-S Genotype
As - [sickle Cell Trait]
Sickle-Cell Disorder Nos
Sickle Cell Disease Nos
Sickle-Cell Anaemia Nos
Haemoglobin Sc Disease
Haemoglobin Ss Disease
Sickle Cell Disorders
Haemoglobin S Disease
Vaso-Occlusive Crisis
Hemoglobin S Disease
Sickle Cell Disorder
Sickle Cell Syndrome
Sickle Cell Anaemia
Hbss Without Crisis
Sickle Cell Crisis
Hb-S/hb-C Disease
Hbss with Crisis
Herrick Anaemia
Drepanocytosis
Hb Sc Disease
Hb S Disease
Hbs Disease
Skca
Scd
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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
镰状细胞病,也称为镰状细胞贫血,与遗传性胎儿血红蛋白镰状细胞病综合症和急性胸腔综合症有关,症状包括腹痛、心绞痛和胸痛。与镰状细胞病有关的重要基因是HBB(血红蛋白亚基β),其相关通路/超级通路包括葡萄糖/能量代谢和清道夫受体结合和摄取配体。在该疾病的背景下提到了磺胺嘧啶和甲氧苄啶。附属组织包括血液、骨髓和骨,相关表型为慢性溶血性贫血和溶血性贫血。
Related ID:
MALACARDS:SCK005
OMIM:603903
MESH:D000755
ICD11:1711513381
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
全年龄段
1-5/10000
75
738
280
SCK005
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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