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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
Adrenoleukodystrophy (ALD)
Alias:
X-Linked Adrenoleukodystrophy
Ald
X-Ald
Siemerling-Creutzfeldt Disease
Bronze Schilder Disease
Addison Disease and Cerebral Sclerosis
Adrenomyeloneuropathy, Adult
Melanodermic Leukodystrophy
Adrenomyeloneuropathy
Diffuse Sclerosis
X-Linked Ald
Diffuse Cerebral Sclerosis of Schilder
Encephalitis Periaxialis Concentrica
Encephalitis Periaxialis, Schilder's
Sudanophilic Cerebral Sclerosis
Adrenoleukodystrophy, X-Linked
Ald - [adrenoleukodystrophy]
Balo's Concentric Sclerosis
Systemic Scleroderma
Addison-Schilder
Amn
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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
肾上腺白质营养不良症,也称为X连锁肾上腺白质营养不良症,与过氧化物酶体酰基辅酶A氧化酶缺乏症和新生儿肾上腺白质营养不良症有关,症状包括皮疹、瘙痒和皮肤紧绷。与肾上腺白质营养不良症有关的重要基因是ABCD1(ATP结合盒家族D成员1),其相关通路/超级通路包括代谢和脂肪酸代谢。在该疾病的背景下,已提到的药物有多巴胺和普拉克索。附属组织包括肾上腺皮质和脊髓,相关表型为智力障碍和步态障碍。
Related ID:
MALACARDS:ADR007
OMIM:300100
MESH:D000326
ICD11:1085655586
Basic Information
Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
X显
X染色体
X隐
全年龄段
1-9/1000000
44
309
342
ADR007
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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