Details of Disease | DrugMAP

General Information of Disease (ID: DISOBNE1)

Disease Name	Multiple mitochondrial dysfunctions syndrome 2
Synonyms	MMDS2; multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia; BOLA3 fatal multiple mitochondrial dysfunctions syndrome; multiple mitochondrial dysfunctions syndrome type 2; multiple mitochondrial dysfunctions syndrome 2; BOLA3 deficiency; fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3
Definition	Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene.
Disease Hierarchy	DISYBW5F: Fatal multiple mitochondrial dysfunctions syndrome DISOBNE1: Multiple mitochondrial dysfunctions syndrome 2
Disease Identifiers	MONDO ID MONDO_0013675 UMLS CUI C3280378 OMIM ID 614299 MedGen ID 482008 Orphanet ID 401874 SNOMED CT ID 1208486005

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
BOLA3	OTDEDY0S	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.