Rare Disease Library

Hereditary sensory and autonomic neuropathy type 1B

HSAN with cough and gastroesophageal reflux · HSAN1B

Adult Refsum disease

Classic Refsum disease · HMSN 4

Autosomal dominant Charcot-Marie-Tooth disease type 2

Autosomal dominant axonal Charcot-Marie-Tooth disease · CMT2

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal recessive axonal hereditary motor and sensory neuropathy

AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

Autosomal recessive hereditary sensory and autonomic neuropathy

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

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 with acrodystrophy

AR-CMT2 with acrodystrophy · Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy

Hereditary motor and sensory neuropathy, Okinawa type

HMSNP · Hereditary motor and sensory neuropathy, proximal type

Hereditary sensory and autonomic neuropathy

HSAN

Hereditary sensory and autonomic neuropathy due to TECPR2 mutation

HSAN due to TECPR2 mutation · Autosomal recessive spastic paraplegia type 49

Hereditary sensory and autonomic neuropathy type 1

HSAN1 · Hereditary sensory and autonomic neuropathy type I

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

Hereditary sensory and autonomic neuropathy with deafness and global delay

HSAN with deafness and global delay · HSAN with hearing loss and global delay

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

PMP2-related Charcot-Marie-Tooth disease type 1

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

PrP systemic amyloidosis

Prion protein systemic amyloidosis · Chronic diarrhea with hereditary sensory and autonomic neuropathy

X-linked hereditary sensory and autonomic neuropathy with deafness

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