Canavan Disease (CAND)

Canavan Disease(来自ICD-11)
别称:
Aspartoacylase Deficiency
Spongy Degeneration of Central Nervous System
Aminoacylase 2 Deficiency
Acy2 Deficiency
Aspa Deficiency
Canavan-Van Bogaert-Bertrand Disease
Mild Canavan Disease
Spongy Degeneration of the Brain
Severe Canavan Disease
Canavan Disease, Infantile
Infantile Canavan Disease
Canavan Disease, Juvenile
Canavan Disease, Neonatal
Juvenile Canavan Disease
Neonatal Canavan Disease
Canavan's Disease
Disease, Canavan
Asp Deficiency
Cand
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Canavan Disease, also known as aspartoacylase deficiency, is related to leukodystrophy and hypotonia, and has symptoms including opisthotonus An important gene associated with Canavan Disease is ASPA (Aspartoacylase), and among its related pathways/superpathways are Aspartate and asparagine metabolism and Alanine and aspartate metabolism. The drugs Levetiracetam and Prednisone have been mentioned in the context of this disorder. Affiliated tissues include brain and skin, and related phenotypes are macrocephaly and eeg abnormality
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基础信息

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参考文献
MALACARDS
AR
Newborn
1-9/100000
14
77
86

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MGI
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