Details of Disease | DrugMAP

General Information of Disease (ID: DISL8IQR)

Disease Name	Ketoacidosis due to monocarboxylate transporter-1 deficiency
Synonyms	MCT1D; monocarboxylate transporter 1 deficiency
Disease Hierarchy	DIS4D037: Disorder of fatty acid and ketone body metabolism DISL8IQR: Ketoacidosis due to monocarboxylate transporter-1 deficiency
Disease Identifiers	MONDO ID MONDO_0014490 UMLS CUI C4015186 OMIM ID 616095 MedGen ID 863623 Orphanet ID 438075 SNOMED CT ID 1216941002

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
SLC16A1	TTN1J82	Strong	Genetic Variation	[1]
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This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
SLC16A1	DT342ZG	Strong	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
SLC16A1	OTW1UTZ7	Strong	Autosomal recessive	[1]
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References

1	Monocarboxylate transporter 1 deficiency and ketone utilization. N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778.