Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)

Neuropathy, Ataxia, and Retinitis Pigmentosa(来自ICD-11)
别称:
Narp Syndrome
Neurogenic Muscle Weakness-Ataxia-Retinitis Pigmentosa Syndrome
Neurogenic Muscle Weakness, Ataxia, and Retinitis Pigmentosa
Neuropathy-Ataxia-Retinitis Pigmentosa Syndrome
Narp
Narp - [neuropathy, Ataxia and Retinitis Pigmentosa] Syndrome
Neuropathy, Ataxia and Retinitis Pigmentosa
Neuropathy, Ataxia, and Retinitis Pigmentos
Neuropathy Ataxia and Retinitis Pigmentosa
Neuropathy, Ataxia, Retinitis Pigmentosa
Neuropathy Ataxia and Retinis Pigmentosa
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Neuropathy, Ataxia, and Retinitis Pigmentosa, also known as narp syndrome, is related to isolated atp synthase deficiency and hereditary optic neuropathy, and has symptoms including ataxia, seizures and proximal neurogenic muscle weakness. An important gene associated with Neuropathy, Ataxia, and Retinitis Pigmentosa is MT-ATP6 (Mitochondrially Encoded ATP Synthase Membrane 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 eye and retina, and related phenotypes are seizure and nystagmus
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相关ID:
MESH:C537396
ICD11:2089784682

基础信息

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参考文献
MALACARDS
Mit
Child
1-9/100000
12
59
27

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