Neurology · Neurology / Mitochondrial disease
NARP syndrome
also: Neuropathy, ataxia and retinitis pigmentosa
Maternally inherited syndrome.
- Specialty
- Neurology
- Subspecialty
- Neurology / Mitochondrial disease
- Sex & age distribution
- Male: affected; Female: affected equally (maternal inheritance); Children: yes, childhood to adult onset; Leigh form in infants
- Gene(s) involved
- MT-ATP6, MT-ATP8
- Alternative names & eponyms
- Neuropathy, ataxia and retinitis pigmentosa
Etiology & mechanism
MT-ATP6 mutation.
Gene(s) involved (2)
Symptoms & signs (6)
In plain terms, someone with NARP syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
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Shares symptoms with
3 shared
Abetalipoproteinemia
ataxia, neuropathy, retinitis pigmentosa
2 shared
Action myoclonus–renal failure syndrome
ataxia, seizures
2 shared
Angelman syndrome
ataxia, seizures
2 shared
Cerebral folate deficiency syndrome
ataxia, seizures
2 shared
Chorea-acanthocytosis
neuropathy, seizures
2 shared
Dandy–Walker malformation
ataxia, developmental delay
2 shared
EAST syndrome
ataxia, seizures
2 shared
Folate malabsorption syndrome
developmental delay, seizures
2 shared
Galloway–Mowat syndrome
developmental delay, seizures
2 shared
Glucose transporter type 1 deficiency syndrome
ataxia, developmental delay
Shares genes with
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