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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
Birk-Landau-Perez Syndrome (BILAPES)
Alias:
Psychomotor Regression-Oculomotor Apraxia-Movement Disorder-Nephropathy Syndrome
Bilapes
Cerebrorenal Syndrome, Perez Type
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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
Birk-Landau-Perez 综合征,又称心理运动退化-眼动障碍-运动障碍-肾病综合征,与失用症和眼睑下垂有关。与 Birk-Landau-Perez 综合征相关的重要基因是 SLC30A9(溶质载体家族 30 成员 9)。相关组织包括眼睛和肾脏,相关表型为胼胝体发育不全和眼睑下垂
Related ID:
MALACARDS:BRK013
OMIM:617595
MESH:D000015
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
婴儿期
<1/1000000
1
5
4
BRK013
Medical Symptom
#
Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available
Gene & Mutation
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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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