Details of Disease | DrugMAP

General Information of Disease (ID: DISN3J4U)

Disease Name	Multiple mitochondrial dysfunctions syndrome 6
Synonyms	PMPCB deficiency; multiple mitochondrial dysfunctions syndrome type 6; MMDS6; multiple mitochondrial dysfunctions syndrome 6
Disease Hierarchy	DISYBW5F: Fatal multiple mitochondrial dysfunctions syndrome DISN3J4U: Multiple mitochondrial dysfunctions syndrome 6
Disease Identifiers	MONDO ID MONDO_0054785 UMLS CUI C4693741 OMIM ID 617954 MedGen ID 1643082 Orphanet ID 569290 SNOMED CT ID 1279891002

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
PMPCB	OTRMBHNM	Strong	Autosomal recessive	[1]
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References

1	Is misoprostol prophylaxis indicated for NSAID induced adverse gastrointestinal events? An epidemiologic opinion. J Rheumatol. 1991 Jul;18(7):958-61.