NARP syndrome

Term ID

DOID:0111273

Synonyms

• Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
• neuropathy, ataxia and retinitis pigmentosa
• Neuropathy-ataxia-retinitis pigmentosa syndrome

Definition

A mitochondrial metabolism disease characterized by developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy that has_material_basis_in heteroplasmic mutation in the mitochondrial gene MTATP6. https://www.ncbi.nlm.nih.gov/pubmed/2137962

References

• GARD:262
• MEDDRA:10062940
• MESH:C537396
• OMIM:551500
• ORDO:644
• SNOMEDCT_US_2023_03_01:237984008
• UMLS_CUI:C1328349

Ontology

Human Disease   ( DOID:0111273 )