NARP syndrome
Findings
No curated finding names NARP syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A clinically heterogeneous progressive condition characterized by a combination of proximal neurogenic muscle weakness, sensory-motor neuropathy, ataxia, and pigmentary retinopathy.
Definition from the Mondo Disease Ontology (MONDO:0010794), read 2026-09-29. CC BY 4.0.
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.
- Abnormal basal ganglia MRI signal intensityHPOHP:0012751
- Frequent (30% to 79% of cases)
- Abnormal visual field testHPOHP:0030588
- Frequent (30% to 79% of cases)
- AtaxiaHPOHP:0001251
- Frequent (30% to 79% of cases)
- Babinski signHPOHP:0003487
- Frequent (30% to 79% of cases)
- BlindnessHPOHP:0000618
- Frequent (30% to 79% of cases)
- Cerebral cortical atrophyHPOHP:0002120
- Frequent (30% to 79% of cases)
- Constriction of peripheral visual fieldHPOHP:0001133
- Frequent (30% to 79% of cases)
- Corticospinal tract atrophyHPOHP:0007117
- Frequent (30% to 79% of cases)
- DementiaHPOHP:0000726
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HeadacheHPOHP:0002315
- Frequent (30% to 79% of cases)
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
Reported absent (1)
- Abnormal mitochondria in muscle tissueHPOHP:0008316
Show the remaining 15
- IrritabilityHPOHP:0000737
- Frequent (30% to 79% of cases)
- Muscle spasmHPOHP:0003394
- Frequent (30% to 79% of cases)
- Myoclonic spasmsHPOHP:0003739
- Frequent (30% to 79% of cases)
- NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
- Optic disc pallorHPOHP:0000543
- Frequent (30% to 79% of cases)
- Progressive gait ataxiaHPOHP:0007240
- Frequent (30% to 79% of cases)
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.
- MT-ATP6HGNC:7414
- Definitive · G2P · Mitochondrial · 2018
- Supportive · Orphanet · Mitochondrial · 2021
Where it sits
Other names
2 names
Resolves to: NARP syndrome
- Also called
- neurogenic muscle weakness-ataxia-retinitis pigmentosa syndromeneuropathy-ataxia-retinitis pigmentosa syndrome