Mitochondrial oxidative phosphorylation disorder

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA

ORPHA:254776Category

Also called Mitochondrial oxidative phosphorylation disorder due to a point mutation of mtDNA · OXPHOS disease due to a point mutation of mitochondrial DNA · OXPHOS disease due to a point mutation of mtDNA

What it is

Orphanet has not published a description for this disease yet. The identifiers, classification and cross-references below are still current.

Key facts

Classified as
Category

Genes reported in subtypes

DNAJC30MT-ATP6MT-ATP8MT-CO1MT-CO2MT-CO3MT-CYBMT-ND1MT-ND2MT-ND3MT-ND4MT-ND4LMT-ND5MT-ND6MT-RNR1MT-TFMT-THMT-TIMT-TKMT-TL1MT-TPMT-TQMT-TS1MT-TS2MT-TVMT-TWNDUFS2POU3F4TFB1MTRMU

Orphanet records these genes on 11 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 16793UMLS C5679645

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.