mitochondrial DNA depletion syndrome 1
MONDO:0011283Mondo
Findings
No curated finding names mitochondrial DNA depletion syndrome 1 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
- Juvenile onset
HPO, annotations 2026-09-02
Features
27 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.
- AllodyniaHPOHP:0012533
- 1 of 1 reported patient
- Areflexia of lower limbsHPOHP:0002522
- 1 of 1 reported patient
- DiplopiaHPOHP:0000651
- 1 of 1 reported patient
- Elevated circulating deoxyuridine concentrationHPOHP:0034277
- 1 of 1 reported patient
- Elevated circulating thymidine concentrationHPOHP:0034276
- 1 of 1 reported patient
- HypoesthesiaHPOHP:0033748
- 1 of 1 reported patient
- OphthalmoparesisHPOHP:0000597
- 35 of 35 reported patients
- Peripheral neuropathyHPOHP:0009830
- 34 of 34 reported patients
- PtosisHPOHP:0000508
- 35 of 35 reported patients
- Reduced tissue thymidine phosphorylase activityHPOHP:6000570
- 16 of 16 reported patients
- Sensorimotor neuropathyHPOHP:0007141
- 1 of 1 reported patient
- Weight lossHPOHP:0001824
- 20 of 20 reported patients
Show the remaining 15
- Hyperactive bowel soundsHPOHP:0030143
- 24 of 25 reported patients
- Abdominal painHPOHP:0002027
- 17 of 18 reported patients
- Early satietyHPOHP:0033842
- 14 of 15 reported patients
- DiarrheaHPOHP:0002014
- 27 of 29 reported patients
- Abdominal crampsHPOHP:0032155
- 25 of 28 reported patients
- AreflexiaHPOHP:0001284
- 27 of 33 reported patients
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.
- TYMPHGNC:3148
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: mitochondrial DNA depletion syndrome 1
- Also called
- mitochondrial DNA depletion syndrome type 1