Leber optic atrophy
- Synonyms
- Leber hereditary optic neuropathy; Leber's disease; Leber's optic atrophy; Optic Atrophy, Hereditary, Leber
- Modes of inheritance
- Mitochondrial inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Genes See tests for all associated and related genes
Also known as: ATPase6, MTATP6, ATP6
Summary: mitochondrially encoded ATP synthase 6Also known as: COIII, MTCO3, COX3
Summary: mitochondrially encoded cytochrome c oxidase IIIAlso known as: MTCYB, CYTB
Summary: mitochondrially encoded cytochrome bAlso known as: MTND1, ND1
Summary: mitochondrially encoded NADH dehydrogenase 1Also known as: MTND2, ND2
Summary: mitochondrially encoded NADH dehydrogenase 2Also known as: MTND4, ND4
Summary: mitochondrially encoded NADH dehydrogenase 4Also known as: MTND4L, ND4L
Summary: mitochondrially encoded NADH 4L dehydrogenaseAlso known as: MTND5, ND5
Summary: mitochondrially encoded NADH dehydrogenase 5Also known as: MTND6, ND6
Summary: mitochondrially encoded NADH dehydrogenase 6
Clinical features
Help- Abnormality of the cardiovascular system
- Cardiac arrhythmia
Cardiac arrhythmia
- MedGen UID: 2039
- Concept ID: C0003811
- Finding: Finding
Abnormality of the cardiovascular system
- Cardiac arrhythmia
- Abnormality of the eye
- Central retinal vessel vascular tortuosity
Central retinal vessel vascular tortuosity
- MedGen UID: 867211
- Concept ID: C4021569
- Finding: Finding
Abnormality of the eye
- Centrocecal scotoma
Centrocecal scotoma
- MedGen UID: 82870
- Concept ID: C0271196
- Finding: Finding
Abnormality of the eye
- Leber optic atrophy
Leber optic atrophy
- MedGen UID: 182973
- Concept ID: C0917796
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Optic neuropathy
Optic neuropathy
- MedGen UID: 854546
- Concept ID: C3887709
- Finding: Disease or Syndrome
Abnormality of the eye
- Visual loss
Visual loss
- MedGen UID: 784038
- Concept ID: C3665386
- Finding: Finding
Abnormality of the eye
- Central retinal vessel vascular tortuosity
- Abnormality of the musculoskeletal system
- Myopathy
Myopathy
- MedGen UID: 10135
- Concept ID: C0026848
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Myopathy
- Abnormality of the nervous system
- Cerebellar ataxia
Cerebellar ataxia
- MedGen UID: 849
- Concept ID: C0007758
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Dystonic disorder
Dystonic disorder
- MedGen UID: 3940
- Concept ID: C0013421
- Finding: Sign or Symptom
Abnormality of the nervous system
- Polyneuropathy
Polyneuropathy
- MedGen UID: 57502
- Concept ID: C0152025
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Postural tremor
Postural tremor
- MedGen UID: 66696
- Concept ID: C0234378
- Finding: Sign or Symptom
Abnormality of the nervous system
- Cerebellar ataxia
- OMIM
- View MT-ATP6 variations in ClinVar
- View MT-CO3 variations in ClinVar
- View MT-CYB variations in ClinVar
- View MT-ND1 variations in ClinVar
- View MT-ND2 variations in ClinVar
- View MT-ND4 variations in ClinVar
- View MT-ND4L variations in ClinVar
- View MT-ND5 variations in ClinVar
- View MT-ND6 variations in ClinVar
- Coriell Institute for Medical Research
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