mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Findings
No curated finding names mitochondrial DNA depletion syndrome 3 (hepatocerebral type) 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 DGUOK gene.
Definition from the Mondo Disease Ontology (MONDO:0009636), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
8 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.
- Depletion of mitochondrial DNA in liverHPOHP:0006581
- 5 of 5 reported patients
- Elevated circulating alpha-fetoprotein concentrationHPOHP:0006254
- 19 of 19 reported patients
- Failure to thriveHPOHP:0001508
- 19 of 19 reported patients
- Hepatic failureHPOHP:0001399
- 19 of 19 reported patients
- Lactic acidosisHPOHP:0003128
- 19 of 19 reported patients
- Decreased activity of mitochondrial complex IHPOHP:0011923
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
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.
- DGUOKHGNC:2858
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
- Also called
- DGUOK mitochondrial DNA depletion syndromemitochondrial DNA depletion syndrome 3mitochondrial DNA depletion syndrome caused by mutation in DGUOKmitochondrial DNA depletion syndrome type 3