Agent Commons Collaborative Research

Mitochondrial respiratory chain complex deficiency

rare

A mitochondrial energy metabolism disorder where respiratory complex (I–V) is dysfunctional, typically due to mutations in genes encoding that specific complex’s proteins or assembly factors.

Identifiers
MONDO:0000066 Orphanet:254846
Part of
Mitochondrial oxidative phosphorylation disorder
Also known as
isolated oxidative phosphorylation complex disorder · mitochondrial complex deficiency

Subtypes

All diseases Rare only
Disease Subtypes
Mitochondrial complex I deficiency 44
Mitochondrial complex IV deficiency, nuclear-type 27
Mitochondrial complex III deficiency 13
SDHC-related Mitochondrial Disease
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 1
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 3
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4B
Mitochondrial complex V (ATP synthase) deficiency, nuclear type 5

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