Rare Disease Library

Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy

CMT/HMSN · Charcot-Marie-Tooth hereditary 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

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

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 1A

CMT1A · Microduplication 17p12

Charcot-Marie-Tooth disease type 1B

CMT1B

Charcot-Marie-Tooth disease type 1C

CMT1C

Charcot-Marie-Tooth disease type 1D

CMT1D

Charcot-Marie-Tooth disease type 1E

Charcot-Marie-Tooth disease-hearing loss syndrome · CMT1E

Charcot-Marie-Tooth disease type 1F

CMT1F

Charcot-Marie-Tooth disease type 2H

CMT2H · AR-CMT2C

Charcot-Marie-Tooth disease type 2P

CMT2P

Charcot-Marie-Tooth disease type 2R

CMT2R

Charcot-Marie-Tooth disease type 2S

CMT2S

Charcot-Marie-Tooth disease type 2T

CMT2T · AR-CMT2T

Charcot-Marie-Tooth disease type 4

AR-CMT1 · Autosomal recessive demyelinating Charcot-Marie-Tooth

Charcot-Marie-Tooth disease type 4A

CMT4A

Charcot-Marie-Tooth disease type 4C

CMT4C

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

Charcot-Marie-Tooth disease type 4E

Autosomal recessive congenital hypomyelinating neuropathy · CMT4E

Charcot-Marie-Tooth disease type 4F

CMT4F

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

Charcot-Marie-Tooth disease type 4H

CMT4H

Charcot-Marie-Tooth disease type 4J

CMT4J

COQ7-related distal hereditary motor neuropathy

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

Distal hereditary motor neuropathy

Distal spinal muscular atrophy · dHMN

Distal hereditary motor neuropathy type 1

Autosomal dominant distal juvenile spinal muscular atrophy type 1 · dHMN1

Distal hereditary motor neuropathy type 2

Distal spinal muscular atrophy type 2 · dHMN2

Distal hereditary motor neuropathy type 5

Distal hereditary motor neuropathy type V · Distal HMN V

Distal hereditary motor neuropathy type 7

Distal spinal muscular atrophy with vocal cord paralysis · dHMN7

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary ATTR amyloidosis

Familial TTR-related amyloidosis · Familial transthyretin-related amyloidosis

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 optic neuropathy

Hereditary sensory and autonomic neuropathy

HSAN

Hereditary thermosensitive neuropathy

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

PMP2-related Charcot-Marie-Tooth disease type 1

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

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

Syndromic hereditary optic neuropathy

X-linked distal hereditary motor neuropathy

X-linked dHMN · X-linked distal spinal muscular atrophy