mitochondrial DNA depletion syndrome 16 (hepatic type)
MONDO:0032799Mondo
Findings
No curated finding names mitochondrial DNA depletion syndrome 16 (hepatic type) yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
20 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.
- Abdominal distentionHPOHP:0003270
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- CholestasisHPOHP:0001396
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 1 of 1 reported patient
- Depletion of mitochondrial DNA in liverHPOHP:0006581
- 1 of 1 reported patient
- Depletion of mitochondrial DNA in muscle tissueHPOHP:0009141
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Elevated circulating alanine aminotransferase concentrationHPOHP:0031964
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 1 of 1 reported patient
- Fulminant hepatic failureHPOHP:0004448
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 1 of 1 reported patient
- HyperkalemiaHPOHP:0002153
- 1 of 1 reported patient
Show the remaining 8
- HypoalbuminemiaHPOHP:0003073
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Increased circulating lactate concentrationHPOHP:0002151
- 1 of 1 reported patient
- Increased total bilirubinHPOHP:0003573
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 1 of 1 reported patient
- Metabolic acidosisHPOHP:0001942
- 1 of 1 reported patient
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.
- POLG2HGNC:9180
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2019
Where it sits
- A kind of