Details of Disease | DrugMAP

General Information of Disease (ID: DISLCY56)

Disease Name	Severe Canavan disease
Synonyms	infantile Canavan disease; neonatal Canavan disease
Definition	Severe Canavan disease (CD) is a rapidly progressing neurodegenerative disorder characterized by leukodystrophy with macrocephaly, severe developmental delay and hypotonia.
Disease Hierarchy	DIS7UPG8: Canavan disease DISLCY56: Severe Canavan disease
Disease Identifiers	MONDO ID MONDO_0017830 UMLS CUI C5575558 MedGen ID 1826002 Orphanet ID 314911

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
ASPA	TT6TLZP	Supportive	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
ASPA	OTR2MWS4	Supportive	Autosomal recessive	[1]
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References

1	Canavan Disease. 1999 Sep 16 [updated 2023 Dec 21]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews(?) [Internet]. Seattle (WA): University of Washington, Seattle; 1993C2024.