Leber plus disease

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Leber plus disease

ORPHA:99718Disease

Also called LHON plus disease

What it is

A rare inherited mitochondrial disease characterized by the clinical features of Leber hereditary optic neuropathy in combination with other systemic or neurological abnormalities. These abnormalities include: postural tremor, motor disorder, multiple sclerosis-like syndrome, spinal cord disease, skeletal changes, Parkinsonism with dystonia, anarthria, motor and sensory peripheral neuropathy, spasticity, mild encephalopathy, and cardiac arrhythmias.

Key facts

Prevalence
<1 / 1 000 000 (Europe)
Age of onset
Adolescent, Adult, Childhood, Infancy
Inheritance
Mitochondrial inheritance
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Genes

MT-ND3Disease-causing germline mutation(s)
MT-ND4Disease-causing germline mutation(s)
MT-ND6Disease-causing germline mutation(s)

ICD-10 codes

H47.2filed under a broader ICD-10 category — shared with 10 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

GARD 8476MONDO 0020478OMIM 165200OMIM 500001UMLS C4304725

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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