Details of Disease

General Information of Disease (ID: DIS7UPG8)

Disease Name	Canavan disease
Synonyms	Aspa deficiency; spongy degeneration of the central nervous system; Asp deficiency; Acy2 deficiency; Von Bogaert-Bertrand disease; spongy Degeneration of central nervous system; Canavan-Van Bogaert-Bertrand disease; Canavan disease; spongy degeneration of central nervous system; aminoacylase 2 deficiency; spongy degeneration of the brain; Canavan-VAN Bogaert-Bertrand disease; ACY2 deficiency; aspartoacylase deficiency
Disease Class	5C50: Metabolism inborn error
Definition	A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay.
Disease Hierarchy	DISHT1DZ: Inborn aminoacylase deficiency DISVY1TT: Leukodystrophy DIS7UPG8: Canavan disease
ICD Code	ICD-11 ICD-11: 5C50.E1
Disease Identifiers	MONDO ID MONDO_0010079 MESH ID D017825 UMLS CUI C0206307 OMIM ID 271900 MedGen ID 61565 Orphanet ID 141 SNOMED CT ID 80544005

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)

This Disease is Treated as An Indication in 2 Clinical Trial Drug(s)

Drug Name	Drug ID	Highest Status	Drug Type	REF
Lithium	DMZ3OU6	Phase 2	Small molecular drug	[1]
BBP-812	DM9PSZ1	Phase 1/2	Gene therapy	[2]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
GJC2	TTPOCAL	Strong	Genetic Variation	[3]
ASPA	TT6TLZP	Definitive	Autosomal recessive	[4]
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This Disease Is Related to 3 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
NAT8L	OTA96AVN	Strong	Biomarker	[5]
SPATA22	OTBU7CWP	Strong	Genetic Variation	[6]
ASPA	OTR2MWS4	Definitive	Autosomal recessive	[4]
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References

1	Lithium FDA Label
2	ClinicalTrials.gov (NCT04998396) A Phase 1/2 Open-Label Study of the Safety and Clinical Activity of Gene Therapy for Canavan Disease Through Administration of an Adeno-Associated Virus (AAV) Serotype 9-Based Recombinant Vector Encoding the Human ASPA Gene. U.S.National Institutes of Health.
3	Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.Biochim Biophys Acta. 2010 Nov;1802(11):1112-7. doi: 10.1016/j.bbadis.2010.07.005. Epub 2010 Jul 13.
4	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
5	Brain Nat8l Knockdown Suppresses Spongiform Leukodystrophy in an Aspartoacylase-Deficient Canavan Disease Mouse Model.Mol Ther. 2018 Mar 7;26(3):793-800. doi: 10.1016/j.ymthe.2018.01.002. Epub 2018 Jan 10.
6	Atypical clinical and radiological course of a patient with Canavan disease.Metab Brain Dis. 2016 Apr;31(2):475-9. doi: 10.1007/s11011-015-9767-9. Epub 2015 Nov 19.