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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
Porphyria, Acute Hepatic (AHEPP)
Alias:
Porphobilinogen Synthase Deficiency
Lead Poisoning
Delta-Aminolevulinate Dehydratase Deficiency
Acute Hepatic Porphyria
Alad Deficiency
Doss Porphyria
Porphyria Due to Delta-Aminolevulinate Dehydratase Deficiency
Porphyria Due to Ala Dehydratase Deficiency
Lead Poisoning, Susceptibility to
Porphyria Due to Alad Deficiency
Lead Intoxication
Porphyria of Doss
Porphyria, Ala-D
Porphyria, Alad
Alad Porphyria
Porphyria Alad
Saturnism
Plumbism
Ahepp
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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
原卟啉症,急性肝性,又称原卟啉原合酶缺乏症,与变性原卟啉症和硬性原卟啉症有关,症状包括呕吐和肌肉无力。与原卟啉症,急性肝性相关的基因是ALAD(氨基乙酰丙酸脱水酶)。在该疾病的背景下提到了乙醇和药物溶液。附属组织包括肝脏和皮肤,相关表型为异常循环酶浓度或活性和便秘。
Related ID:
MALACARDS:PRP056
OMIM:612740
MESH:D017094
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
常显
孩童期
1-9/100000
1
6
23
PRP056
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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