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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
Salt and Pepper Developmental Regression Syndrome (SPDRS)
Alias:
Gm3 Synthase Deficiency
Amish Infantile Epilepsy Syndrome
St3gal5-Cdg
Epilepsy Syndrome, Infantile-Onset Symptomatic
Spdrs
Salt Pepper Developmental Regression Syndrome
Infantile-Onset Symptomatic Epilepsy Syndrome
Epilepsy Syndrome Infantile-Onset Symptomatic
Salt and Pepper Mental Retardation Syndrome
Ganglioside Gm3 Synthase Deficiency
St3gal5 Deficiency
Aies
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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
"盐和胡椒发育退化综合症",也被称为gm3合成酶缺乏症,与"盐和胡椒综合症"和癫痫有关,症状包括呕吐和未指明的视觉丧失。与"盐和胡椒发育退化综合症"有关的重要基因是ST3GAL5(ST3β-半乳糖苷α-2,3-神经酰胺转移酶5)。相关组织包括皮肤和大脑,相关表型为听力障碍和小头畸形。
Related ID:
MALACARDS:SLT014
OMIM:609056
MESH:D004827
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
1
5
29
SLT014
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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