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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
Mcleod Syndrome (MCLDS)
Alias:
Mcleod Neuroacanthocytosis Syndrome
Mls
X-Linked Mcleod Syndrome
Mcleod Syndrome with or Without Chronic Granulomatous Disease
Neuroacanthocytosis, Mcleod Type
Mcleod Phenotype
Mcleod Syndrome with Chronic Granulomatous Disease
Mcleod Type Neuroacanthocytosis
Neuroacanthocytosis Mcleod Type
Blood Group Deletion Syndrome
Mclds
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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
麦科伊德综合症,又名麦科伊德神经棘红细胞增多症,与舞蹈病样棘红细胞增多症和亨廷顿病有关。麦科伊德综合症相关的重要基因是XK(X连锁Kx血型抗原,Kell和VPS13A结合蛋白)。相关组织包括脊髓和心脏,相关表型为横纹肌溶解和血清肌酸激酶浓度升高。
Related ID:
MALACARDS:MCL009
OMIM:300842
MESH:C564038
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X染色体
X显
成年期
<1/1000000
18
101
76
MCL009
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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