mitochondrial DNA depletion syndrome 8a
Findings
No curated finding names mitochondrial DNA depletion syndrome 8a yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the RRM2B gene.
Definition from the Mondo Disease Ontology (MONDO:0012792), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal onset
HPO, annotations 2026-09-02
Features
11 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Axial hypotoniaHPOHP:0008936
- 7 of 7 reported patients
- Lactic acidosisHPOHP:0003128
- 7 of 7 reported patients
- Proximal tubulopathyHPOHP:0000114
- 7 of 7 reported patients
- Increased CSF lactateHPOHP:0002490
- 2 of 7 reported patients
- SeizureHPOHP:0001250
- 2 of 7 reported patients
- Decreased activity of mitochondrial complex IVHPOHP:0008347
- 1 of 7 reported patients
- DiarrheaHPOHP:0002014
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- RRM2BHGNC:17296
- Definitive · G2P · Autosomal recessive · 2022
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: mitochondrial DNA depletion syndrome 8a
- Also called
- mitochondrial DNA depletion syndrome caused by mutation in RRM2Bmitochondrial DNA depletion syndrome type 8amtDNA depletion syndrome, encephalomyopathic form with renal tubulopathyRRM2B mitochondrial DNA depletion syndrome