LDYT
MCID: LBR031
MIFTS: 40
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Leber Optic Atrophy and Dystonia (LDYT)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Leber Optic Atrophy and Dystonia:
Characteristics:Inheritance:
Mitochondrial 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
onset of dystonia is in childhood onset of optic neuropathy is usually in early adulthood patients may show both optic neuropathy and dystonia or only 1 disorder considered part of a spectrum of leber hereditary optic atrophy (lhon, ) Classifications:
MalaCards categories:
Global: Rare diseases Genetic diseases Anatomical: Eye diseases Neuronal diseases |
GARD: 19 Leber hereditary optic neuropathy (LHON) with dystonia is a very rare variant of LHON where an individual has LHON associated with dystonia. Dystonia involves involuntary muscle contractions, tremors, and other uncontrolled movements. It is caused by genetic changes in one of three mitochondrial genes: MT-ND1, MT-ND3, MT-ND4, and MT-ND6. Other features that have been associated with this condition include difficulty walking, muscle wasting, scoliosis, dysphagia, dysarthria, intellectual disability, dementia, and spasticity. The dystonia usually begins in childhood; vision loss may begin in early adulthood. MalaCards based summary: Leber Optic Atrophy and Dystonia, also known as marsden syndrome, is related to hereditary optic neuropathy and neuropathy, and has symptoms including dystonia, athetosis and bradykinesia. An important gene associated with Leber Optic Atrophy and Dystonia is MT-ND6 (Mitochondrially Encoded NADH:Ubiquinone Oxidoreductase Core Subunit 6), and among its related pathways/superpathways are Metabolism and Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.. Affiliated tissues include skeletal muscle and eye, and related phenotypes are intellectual disability and spasticity UniProtKB/Swiss-Prot: 73 A form of Leber hereditary optic neuropathy, a mitochondrial disease resulting in bilateral painless loss of central vision due to selective degeneration of the retinal ganglion cells and their axons. The disorder shows incomplete penetrance and male predominance. LDYT is characterized by the association of optic atrophy and central vision loss with dystonia. Disease Ontology: 11 A Leber plus disease characterized by Leber hereditary optic neuropathy and dystonia that has material basis in mutation in the mitochondrial genes MTND6, MTND4, MTND1 or MTND3 that make up the mitochondrial complex I.
More information from OMIM:
500001
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Human phenotypes related to Leber Optic Atrophy and Dystonia:30 (show all 17)
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:500001 (Updated 08-Dec-2022)UMLS symptoms related to Leber Optic Atrophy and Dystonia:dystonia; athetosis; bradykinesia; muscle spasticity; unspecified visual loss |
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Genetic tests related to Leber Optic Atrophy and Dystonia:
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Organs/tissues related to Leber Optic Atrophy and Dystonia:
MalaCards :
Skeletal Muscle,
Eye
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Articles related to Leber Optic Atrophy and Dystonia:(show all 20)
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ClinVar genetic disease variations for Leber Optic Atrophy and Dystonia:5
UniProtKB/Swiss-Prot genetic disease variations for Leber Optic Atrophy and Dystonia:73
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Search
GEO
for disease gene expression data for Leber Optic Atrophy and Dystonia.
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Pathways related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:
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Cellular components related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:
Biological processes related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:
Molecular functions related to Leber Optic Atrophy and Dystonia according to GeneCards Suite gene sharing:
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