Rare Disease Library

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1

Acquired peripheral neuropathy

Adult Refsum disease

Classic Refsum disease · HMSN 4

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Cerebellar ataxia with peripheral neuropathy

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Hereditary motor and sensory neuropathy type 5

Charcot-Marie-Tooth disease-pyramidal features syndrome · HMSN 5

Hereditary motor and sensory neuropathy type 6

CMT6 · Charcot-Marie-Tooth disease type 6

Hereditary motor and sensory neuropathy, Okinawa type

HMSNP · Hereditary motor and sensory neuropathy, proximal type

Hereditary sensory and autonomic neuropathy type 1

HSAN1 · Hereditary sensory and autonomic neuropathy type I

Hereditary sensory and autonomic neuropathy type 1B

HSAN with cough and gastroesophageal reflux · HSAN1B

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

Hereditary sensory and autonomic neuropathy type 4

HSAN4 · CIPA

Hereditary sensory and autonomic neuropathy type 5

Congenital insensitivity to pain and thermal analgesia · HSAN5

Hereditary sensory and autonomic neuropathy type 6

Hereditary sensory and autonomic neuropathy type VI · Familial dysautonomia with contractures

Hereditary sensory and autonomic neuropathy type 7

CIP with hyperhidrosis and gastrointestinal dysfunction · Hereditary sensory and autonomic neuropathy type VII

Hereditary sensory and autonomic neuropathy type 8

HSAN8 · Hereditary sensory and autonomic neuropathy type VIII

Infectious disease with peripheral neuropathy

Laminopathy with peripheral neuropathy

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

Malignant lymphoma with peripheral neuropathy

Mitochondrial disease with peripheral neuropathy

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome

Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome · PHARC syndrome

Rare hereditary disease with peripheral neuropathy

Solid tumor associated with an acquired peripheral neuropathy

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX