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Field	Query

	Field	Term

General Information:

Id:	6,874
Diseases:	Leber optic atrophy - [OMIM]
Organism:	Homo sapiens
Publication type:	article
Reference:	Kumar M et al.(2010) Identification of novel mitochondrial mutations in Lebers hereditary optic neuropathy Mol. Vis. 16: 782-792 [PMID: 20454697]

Interaction Information:

Comment	Leber hereditary optic neuropathy (LHON) is a maternally inherited disease leading to acute bilateral blindness due to loss of the optic nerve and papillomacular bundle nerve fibers, predominantly in young men. LHON begins generally in young adults, with a mean age of onset between 18 and 35 years. Nearly all patients worldwide carry one of three mitochondrial (mt) DNA pathogenic point mutations at positions 11778/ND4, 3460/ND1, and 14484/ND6, which affect complex I subunit genes.
Formal Description Interaction-ID: 67136	disease Leber optic atrophy increases_activity of phenotype optic neuropathy

Comment	Leber hereditary optic neuropathy (LHON) is a maternally inherited disease leading to acute bilateral blindness due to loss of the optic nerve and papillomacular bundle nerve fibers, predominantly in young men. LHON begins generally in young adults, with a mean age of onset between 18 and 35 years. Nearly all patients worldwide carry one of three mitochondrial (mt) DNA pathogenic point mutations at positions 11778/ND4, 3460/ND1, and 14484/ND6, which affect complex I subunit genes.
Formal Description Interaction-ID: 67137	disease Leber optic atrophy increases_activity of phenotype binocular blindness

Comment	Leber hereditary optic neuropathy (LHON) is a maternally inherited disease leading to acute bilateral blindness due to loss of the optic nerve and papillomacular bundle nerve fibers, predominantly in young men. LHON begins generally in young adults, with a mean age of onset between 18 and 35 years. Nearly all patients worldwide carry one of three mitochondrial (mt) DNA pathogenic point mutations at positions 11778/ND4, 3460/ND1, and 14484/ND6, which affect complex I subunit genes.
Formal Description Interaction-ID: 67138	gene/protein mutant MT-ND4-mut increases_activity of disease Leber optic atrophy

Comment	Leber hereditary optic neuropathy (LHON) is a maternally inherited disease leading to acute bilateral blindness due to loss of the optic nerve and papillomacular bundle nerve fibers, predominantly in young men. LHON begins generally in young adults, with a mean age of onset between 18 and 35 years. Nearly all patients worldwide carry one of three mitochondrial (mt) DNA pathogenic point mutations at positions 11778/ND4, 3460/ND1, and 14484/ND6, which affect complex I subunit genes.
Formal Description Interaction-ID: 67139	gene/protein mutant MT-ND1-mut increases_activity of disease Leber optic atrophy

Comment	Leber hereditary optic neuropathy (LHON) is a maternally inherited disease leading to acute bilateral blindness due to loss of the optic nerve and papillomacular bundle nerve fibers, predominantly in young men. LHON begins generally in young adults, with a mean age of onset between 18 and 35 years. Nearly all patients worldwide carry one of three mitochondrial (mt) DNA pathogenic point mutations at positions 11778/ND4, 3460/ND1, and 14484/ND6, which affect complex I subunit genes.
Formal Description Interaction-ID: 67140	gene/protein mutant MT-ND6-mut increases_activity of disease Leber optic atrophy

Comment	Three pathogenic mutations (p.A52T in ND1; p.L128Q in ND2; and p.R340H in ND4) were present in complex I genes.
Formal Description Interaction-ID: 67141	gene/protein mutant MT-ND1-p.A52T increases_activity of disease Leber optic atrophy

Comment	Two nonsynonymous changes in ATPase6 (p.T53I and p.W48R) were also identified, one of which (p.W48R) was pathogenic.
Formal Description Interaction-ID: 67143	gene/protein mutant MT-ATP6-p.W48R increases_activity of disease Leber optic atrophy

Comment	Three pathogenic mutations (p.A52T in ND1; p.L128Q in ND2; and p.R340H in ND4) were present in complex I genes.
Formal Description Interaction-ID: 67144	gene/protein mutant MT-ND2-p.L128Q increases_activity of disease Leber optic atrophy

Comment	Three pathogenic mutations (p.A52T in ND1; p.L128Q in ND2; and p.R340H in ND4) were present in complex I genes.
Formal Description Interaction-ID: 67145	gene/protein mutant MT-ND4-p.R340H increases_activity of disease Leber optic atrophy

Comment	Two nonsynonymous changes in ATPase6 (p.T53I and p.W48R) were also identified. p.W48R was pathogenic.
Formal Description Interaction-ID: 67146	gene/protein mutant MT-ATP6-p.T53I affects_activity of disease Leber optic atrophy

Comment	Mitochondrial DNA nonsynonymous sequence changes in Leber hereditary optic neuropathy patients.
Formal Description Interaction-ID: 67213	gene/protein mutant MT-ND2-p.I159V affects_activity of disease Leber optic atrophy

Comment	Mitochondrial DNA nonsynonymous sequence changes in Leber hereditary optic neuropathy patients.
Formal Description Interaction-ID: 67221	gene/protein mutant MT-CO3-p.V254I affects_activity of disease Leber optic atrophy

Comment	Mitochondrial DNA nonsynonymous sequence changes in Leber hereditary optic neuropathy patients.
Formal Description Interaction-ID: 67222	gene/protein mutant MT-ND5-p.L272P affects_activity of disease Leber optic atrophy

Comment	Mitochondrial DNA nonsynonymous sequence changes in Leber hereditary optic neuropathy patients.
Formal Description Interaction-ID: 67223	gene/protein mutant MT-CYB-p.A122T affects_activity of disease Leber optic atrophy

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