Rare Disease Library

Charcot-Marie-Tooth disease type 1

Autosomal dominant demyelinating Charcot-Marie-Tooth disease · CMT1

46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome

Acquired sensory ganglionopathy

Acquired sensory neuronopathy

Acute motor and sensory axonal neuropathy

AMSAN · Acute motor-sensory axonal GBS

Acute pure sensory neuropathy

Acute pure sensory GBS · Acute pure sensory Guillain-Barré syndrome

Acute sensory ataxic neuropathy

ASAN · Acute sensory ataxic GBS

Adult Refsum disease

Classic Refsum disease · HMSN 4

Amyotrophic lateral sclerosis type 4

ALS · ALS4

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 distal hereditary motor neuropathy

Autosomal dominant dHMN · Autosomal dominant distal spinal muscular atrophy

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary demyelinating 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 distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive hereditary sensory and autonomic neuropathy

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

Charcot-Marie-Tooth disease type 4D

CMT4D · HMSN, Lom type

Charcot-Marie-Tooth disease type 4G

CMT4G · HMSNR

Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome

Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers · Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome

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

CMT/HMSN · Charcot-Marie-Tooth hereditary neuropathy

COQ7-related distal hereditary motor neuropathy

Dejerine-Sottas syndrome

Charcot-Marie-Tooth disease type 3 · HMSN 3

Demyelinating hereditary motor and sensory neuropathy

Demyelinating HMSN

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

Facial onset sensory and motor neuronopathy

FOSMN syndrome

Familial dysautonomia

HSAN3 · Hereditary sensory and autonomic neuropathy type 3

Hereditary amyloidosis with primary renal involvement

Amyloidosis, Ostertag type · Familial amyloid nephropathy

Hereditary angioedema type 1

HAE · HAE 1

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 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 optic neuropathy

Hereditary sensorimotor neuropathy with hyperelastic skin

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 1B

HSAN with cough and gastroesophageal reflux · HSAN1B