Neuropathy, Ataxia, and Retinitis Pigmentosa (NARP)

Alias:
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
Disease Model
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
Related ID:
MESH:C537396
ICD11:2089784682

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
Mit
Child
1-9/100000
12
59
27

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
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Score
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No data available

Related Drugs

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CAS Number
Status
Phase
No data available

Disease Model

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Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
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IF
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