Details of Disease | DrugMAP

General Information of Disease (ID: DISMJ0SB)

Disease Name	Mitochondrial DNA depletion syndrome 13
Synonyms	FBXL4 deficiency; mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); encephalomyopathic mitochondrial DNA depletion syndrome-13; MTDPS13; mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome; BXL4-related early-onset mitochondrial encephalopathy; FBXL4 mitochondrial DNA depletion syndrome; mitochondrial DNA depletion syndrome caused by mutation in FBXL4; mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies; mitochondrial DNA depletion syndrome type 13
Definition	Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the FBXL4 gene.
Disease Hierarchy	DISIGZSM: Mitochondrial DNA depletion syndrome DIS4R581: Mitochondrial DNA depletion syndrome, encephalomyopathic form DISMJ0SB: Mitochondrial DNA depletion syndrome 13
Disease Identifiers	MONDO ID MONDO_0014198 UMLS CUI C3809592 OMIM ID 615471 MedGen ID 815922 Orphanet ID 369897 SNOMED CT ID 765403009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
FBXL4	OTZECCIQ	Strong	Autosomal recessive	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.