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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
Trimethylaminuria (TMAU)
Alias:
Tmau
Fish-Odor Syndrome
Severe Primary Trimethylaminuria
Fish Malodor Syndrome
Trimethylaminuria )
Stale Fish Syndrome
Fish Odour Syndrome
Fish Odor Syndrome
Mesh; D008661
Tmauria
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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
三甲胺尿症,也称为TMAU,与原发性三甲胺尿症和五型眼皮肤白化病有关。与三甲胺尿症有关的重要基因是FMO3(含黄素的二甲胺氧化酶3),其相关通路/超通路包括代谢和代谢途径生物转化I和II。附属组织包括肝脏和皮肤,相关表型为鱼腥味和三甲胺尿症。
Related ID:
MALACARDS:TRM004
OMIM:602079
MESH:C536561
ICD11:685690588
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
未知
--
21
108
42
TRM004
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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