Details of Disease | DrugMAP

General Information of Disease (ID: DIS54M8C)

Disease Name	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
Disease Hierarchy	DISM20FF: Neurodegenerative disease DIS54M8C: Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction
Disease Identifiers	MONDO ID MONDO_0859304 UMLS CUI C5774240 OMIM ID 620089 MedGen ID 1824013

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
LETM1	DTXHKEP	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
LETM1	OT8N4MRU	Strong	Autosomal recessive	[1]
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References

1	Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization. Chin Med J (Engl). 2016 Mar 20;129(6):672-8. doi: 10.4103/0366-6999.177996.