loading...| Preferred Name |
LEBER OPTIC ATROPHY |
|
| Synonyms |
LEBER HEREDITARY OPTIC NEUROPATHY LHON |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/535000 |
|
| altLabel |
LEBER HEREDITARY OPTIC NEUROPATHY LHON |
|
| cui |
C0917796 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU006698 http://purl.bioontology.org/ontology/OMIM/MTHU000773 http://purl.bioontology.org/ontology/OMIM/MTHU006699 http://purl.bioontology.org/ontology/OMIM/MTHU033066 http://purl.bioontology.org/ontology/OMIM/MTHU006693 http://purl.bioontology.org/ontology/OMIM/MTHU006695 http://purl.bioontology.org/ontology/OMIM/MTHU006690 http://purl.bioontology.org/ontology/OMIM/MTHU006688 http://purl.bioontology.org/ontology/OMIM/MTHU006694 http://purl.bioontology.org/ontology/OMIM/MTHU033067 http://purl.bioontology.org/ontology/OMIM/MTHU006692 http://purl.bioontology.org/ontology/OMIM/MTHU028994 http://purl.bioontology.org/ontology/OMIM/MTHU000700 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
535000 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
LEBER OPTIC ATROPHY |
|
| Scope Statement |
Caused by mutation in the complex I, subunit ND4 gene (MTND4, 516003.0001) [MOLECULAR BASIS] Onset 1-70 years of age (95% by early 50's) [MISCELLANEOUS] The majority of patients (~95%) have 1 of 3 mtDNA point mutations (G3460A 516000.0001, G11778A 516003.0001, or T14484C 516006.0001) [MISCELLANEOUS] Caused by mutation in the ATP synthase 6 gene (MTAP6, 516060.0003) [MOLECULAR BASIS] Caused by mutation in the complex I, subunit ND1 gene (MTND1, 516000.0001) [MOLECULAR BASIS] Caused by mutation in the complex I, subunit ND4L gene (MTND4L, 516004.0002) [MOLECULAR BASIS] Genetic heterogeneity [MISCELLANEOUS] Incomplete penetrance - approximately 50% males and 10% females with a pathogenic mtDNA mutation develop the optic neuropathy [MISCELLANEOUS] Caused by mutation in the complex I, subunit ND5 gene (MTND5, 516005.0001) [MOLECULAR BASIS] Caused by mutation in the complex I, subunit ND6 gene (MTND6, 516006.0001) [MOLECULAR BASIS] Caused by mutation in the complex IV, cytochrome c oxidase subunit I gene (MTCO1, 516030.0001) [MOLECULAR BASIS] Estimated mutation carrier rate of 1 in 350 [MISCELLANEOUS] Caused by mutation in the complex I, subunit ND2 gene (MTND2, 516001.0001) [MOLECULAR BASIS] Caused by mutation in the cytochrome c oxidase III gene (MTCO3, 516050.0001) [MOLECULAR BASIS] Caused by mutation in the cytochrome b of complex III gene (MTCYB, 516020.0001) [MOLECULAR BASIS] Prevalence of 1 in 30,000 in Northern Europe [MISCELLANEOUS] |
|
| tui |
T047 |