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Hereditary peripheral neuropathy

rare

An instance of peripheral neuropathy that is caused by an inherited genomic modification in an individual.

Also known as
genetic peripheral neuropathy
Disease Subtypes
Charcot-Marie-Tooth disease 102
Peroxisome biogenesis disorder 47
Distal hereditary motor neuropathy 35
Hereditary sensory and autonomic neuropathy 32
Familial amyloid neuropathy 12
Hereditary motor and sensory neuropathy 11
Coenzyme Q10 deficiency 10
Proximal spinal muscular atrophy 9
Pyruvate dehydrogenase deficiency 7
Leigh syndrome 4
Tay-Sachs disease 4
Metachromatic leukodystrophy 4
Mitochondrial neurogastrointestinal encephalomyopathy 4
Krabbe disease 3
Sandhoff disease 3
Familial episodic pain syndrome 3
Neuropathy, congenital hypomelinating 3
Carpal tunnel syndrome 2
Giant axonal neuropathy 2
Hereditary motor and sensory neuropathy, Okinawa type 1
Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis 1
Charcot-Marie-Tooth disease type 5
Chediak-Higashi syndrome
EMILIN-1-related connective tissue disease
Kearns-Sayre syndrome
NARP syndrome
Niemann-Pick disease type B
PHARC syndrome
PRPS1 deficiency disorder
VPS13A-related neurodegenerative disease
Abetalipoproteinemia
Adrenomyeloneuropathy
Adult polyglucosan body disease
Amyotrophic neuralgia
Ataxia - oculomotor apraxia type 4
Attenuated Chédiak-Higashi syndrome
Beta-mannosidosis
Biotinidase deficiency
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
Cerebrotendinous xanthomatosis
Congenital trigeminal anesthesia
Familial isolated deficiency of vitamin E
Familial recurrent peripheral facial palsy
Fumaric aciduria
Hereditary neuropathy with liability to pressure palsies
Hereditary sensory and autonomic neuropathy with spastic paraplegia
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Infantile axonal neuropathy
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Meralgia paraesthetica, familial
Methylmalonic aciduria and homocystinuria type cblC
Mitochondrial DNA depletion syndrome 4a
Neurodegeneration with brain iron accumulation 2A
Neuropathy with hearing impairment
Neuropathy, hereditary sensory and autonomic, type IId
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
Ornithine aminotransferase deficiency
Oxoglutaricaciduria
Peripheral motor neuropathy, childhood-onset, biotin-responsive
Primary CD59 deficiency
Progressive demyelinating neuropathy with bilateral striatal necrosis
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1
Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2

Rare disease

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