Details of Disease | DrugMAP

General Information of Disease (ID: DISZU2KW)

Disease Name	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Synonyms	LEUKOENCEPHALOPATHY, ACUTE REVERSIBLE, WITH INCREASED URINARY ALPHA-KETOGLUTARATE; ARLIAK; acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate; acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency; acute reversible leukoencephalopathy due to SLC13A3 deficiency
Disease Hierarchy	DISYKSRF: Genetic disease DISBV50J: Acute disease DISZU2KW: Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
Disease Identifiers	MONDO ID MONDO_0032716 UMLS CUI C5193068 OMIM ID 618384 MedGen ID 1677730 Orphanet ID 615964

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC13A3	DTKXTPW	Limited	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
SLC13A3	OTRDOV1Y	Limited	Autosomal recessive	[1]
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References

1	Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.