Leukodystrophy, Hypomyelinating, 4 (HLD4)

Alias:
Mitochondrial Hsp60 Chaperonopathy
Hypomyelinating Leukodystrophy 4
Mitchap60 Disease
Hld4
Pelizaeus-Merzbacher-Like Disease Due to Hspd1 Mutation
Leukodystrophy, Hypomyelinating, Type 4
Mitchap-60 Disease
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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
白质营养不良症,脱髓性4型,又称线粒体hsp60伴侣病,与佩利扎尤斯-梅尔泽病和常染色体显性脊髓性肌萎缩症13型有关,症状包括呼吸暂停、癫痫发作和浅呼吸。与白质营养不良症,脱髓性4型相关的基因是HSPD1(热休克蛋白家族D(Hsp60)成员1)。相关组织包括大脑和周围神经,相关表型为高反射和肌张力减退。
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
常隐
新生儿
--
14
95
2

Medical Symptom

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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

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CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
No Data Found!
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