Leber Hereditary Optic Neuropathy, Modifier of (LOAM)

Leber Hereditary Optic Neuropathy, Modifier of(来自ICD-11)
别称:
Leber Hereditary Optic Neuropathy
Leber Optic Atrophy
Lhon
Leber Optic Atrophy, Susceptibility to
Leber's Hereditary Optic Neuropathy
Leber's Optic Atrophy
Optic Atrophy, Hereditary, Leber
Leber's Optic Neuropathy
Loam
Loas
Leber Hereditary Optic Neuropathy Susceptibility
Modifier of Leber Hereditary Optic Neuropathy
Leber Hereditary Optic Neuropathy, Modifier
Lebers Hereditary Optic Neuropathy
Hereditary Optic Neuroretinopathy
Leber Hereditary Optic Atrophy
Leber Congenital Amaurosis
Optic Atrophy Leber Type
Lhon, Modifier of
Leber's Disease
Loa
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Leber Hereditary Optic Neuropathy, Modifier of, also known as leber hereditary optic neuropathy, is related to leber hereditary optic neuropathy, autosomal recessive 1 and leber optic atrophy and dystonia, and has symptoms including ataxia and static tremor. An important gene associated with Leber Hereditary Optic Neuropathy, Modifier of 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.. The drugs Idebenone and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include eye and bone marrow, and related phenotypes are mitochondrial respiratory chain defects and slow decrease in visual acuity
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参考文献
MALACARDS
XL
Mit
XLR
Adolescent
1-9/100000
101
568
177

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