Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Charcot-Marie-Tooth neuropathy Type 1A, demyelinating - (AD) | 14.1 | | | peripheral myelin protein 22
|
|
|  | * Charcot-Marie-Tooth disease, type 1A - CMT1A | | * Charcot-Marie-Tooth disease, type 1E - CMT1E | | * Dejerine-Sottas Syndrome - DSSB | | * Neuropathy, recurrent, with pressure palsies - HNPP |
|
| Charcot-Marie-Tooth neuropathy Type 1B, demyelinating - (AD) | 14.2 | | | | * Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID | | * Charcot-Marie-Tooth disease, type 1B - CMT1B | | * Charcot-Marie-Tooth disease, type 2I - CMT2I | | * Charcot-Marie-Tooth disease, type 2J - CMT2J | | * Dejerine-Sottas syndrome - DSSA | | * Neuropathy, congenital hypomyelinating - CMT4E |
|
| Charcot-Marie-Tooth neuropathy Type 1C - (AD) | 14.3 | | | lipopolysaccharide-induced TNF factor
|
|
| | * Hereditary motor and sensory, type 1C - CMT1C |
|
| Charcot-Marie-Tooth neuropathy Type 1D - (AD) | 14.4 | | | early growth response 2 protein
|
|
| | * Charcot-Marie-Tooth disease, type 1D - CMT1D | | * Charcot-Marie-Tooth neuropathy Type 4E - CMT4E | | * Dejerine-Sottas neuropathy - DSN | | * Neuropathy, congenital hypomyelinating - CHN |
|
| Charcot-Marie-Tooth neuropathy Type 1E (with deafness) - (AD) | 14.5 | | | peripheral myelin protein 22
|
|
| | * Charcot-Marie-Tooth disease, type 1A - CMT1A | | * Charcot-Marie-Tooth disease, type 1E - CMT1E | | * Dejerine-Sottas Syndrome - DSSB | | * Neuropathy, recurrent, with pressure palsies - HNPP |
|
| Hereditary Neuropathy with Liability to Pressure Palsies - (AD) | 14.6 | | | peripheral myelin protein 22
|
|
| | * Charcot-Marie-Tooth disease, type 1A - CMT1A | | * Charcot-Marie-Tooth disease, type 1E - CMT1E | | * Dejerine-Sottas Syndrome - DSSB | | * Neuropathy, recurrent, with pressure palsies - HNPP |
|
| Charcot-Marie-Tooth neuropathy Type 1F - (AD) | 14.7 | | | neurofilament, light polypeptide 68kDa
|
|
| | * Charcot-Marie-Tooth disease, type 1F - CMT1F | | * Charcot-Marie-Tooth disease, type 2E - CMT2E |
|
| CMT with Congenital vertical talus - (AD) | 14.8 | | | | * Charcot-Marie-Tooth disease, congenital, vertical talus |
|
| Slowed nerve conduction velocity - (AD) | 14.9 | | | Rho guanine nucleotide exchange factor 10
|
|
| | * Slowed nerve conduction velocity, autosomal dominant - NCV |
|
| Charcot-Marie-Tooth neuropathy, with fibulin defect - (AD) | 14.10 | | | Fibulin 5 (extra-cellular matrix)
|
|
| | * Charcot-Marie-Tooth neuropathy, with fibulin defect |
|
| Charcot-Marie-Tooth neuropathy, dominant intermediate A - (AD) | 14.11 | | | | * charcot-marie-tooth neuropathy, dominant intermediate A - CMTDIA |
|
| Charcot-Marie-Tooth neuropathy, dominant intermediate B - (AD) | 14.12 | | | | * centronuclear myopathy, dominant - CNM |
|
| Charcot-Marie-Tooth neuropathy, dominant intermediate C - (AD) | 14.13 | | | | * Charcot-Marie-Tooth neuropathy, dominant intermediate C - CMTDIC |
|
| Charcot-Marie-Tooth neuropathy, dominant intermediate D - (AD) | 14.14 | | | | * Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID | | * Charcot-Marie-Tooth disease, type 1B - CMT1B | | * Charcot-Marie-Tooth disease, type 2I - CMT2I | | * Charcot-Marie-Tooth disease, type 2J - CMT2J | | * Dejerine-Sottas syndrome - DSSA | | * Neuropathy, congenital hypomyelinating - CMT4E |
|
| Charcot-Marie-Tooth neuropathy Type 4A - (AR) | 14.15 | | | ganglioside-induced differentiation-associated protein 1
|
|
| | * Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A | | * Charcot-Marie-Tooth disease, type 2K - CMT2K | | * Charcot-Marie-Tooth disease, type 4A - CMT4A |
|
| Charcot-Marie-Tooth neuropathy Type 4B1 - (AR) | 14.16 | | | myotubularin-related protein 2
|
|
| | * Charcot-Marie-Tooth disease, type 4B1 - CMT4B1 |
|
| Charcot-Marie-Tooth neuropathy Type 4B2 - (AR) | 14.17 | | | | * charcot-marie-tooth disease, type 4b2 - CMT4B2 |
|
| Charcot-Marie-Tooth neuropathy Type 4C - (AR) | 14.18 | | | | * Charcot-Marie-Tooth neuropathy Type 4F - CMT4C |
|
| Charcot-Marie-Tooth neuropathy Type 4D (HMSN Lom, with deafness) - (AR) | 14.19 | | | N-myc downstream regulated gene 1
|
|
| | * Charcot-Marie-Tooth disease, type 4D - CMT4D | | * Neuropathy, hereditary motor and sensory, lom type - HMSNL |
|
| Charcot-Marie-Tooth neuropathy Type 4E (congenital hypomyelinating myopathy) - ( ) | 14.20 | | | early growth response 2 protein
|
|
| | * Charcot-Marie-Tooth disease, type 1D - CMT1D | | * Charcot-Marie-Tooth neuropathy Type 4E - CMT4E | | * Dejerine-Sottas neuropathy - DSN | | * Neuropathy, congenital hypomyelinating - CHN |
|
| Charcot-Marie-Tooth neuropathy Type 4E (congenital hypomyelinating myopathy) - ( ) | 14.21 | | | | * Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID | | * Charcot-Marie-Tooth disease, type 1B - CMT1B | | * Charcot-Marie-Tooth disease, type 2I - CMT2I | | * Charcot-Marie-Tooth disease, type 2J - CMT2J | | * Dejerine-Sottas syndrome - DSSA | | * Neuropathy, congenital hypomyelinating - CMT4E |
|
| Charcot-Marie-Tooth neuropathy Type 4F - (AR) | 14.22 | | | | * Charcot-Marie-Tooth disease, type 4F - CMT4F | | * Dejerine-Sottas neuropathy, autosomal recessive - CMT4F |
|
| Charcot-Marie-Tooth neuropathy Type 4G (type Russe) - (AR) | 14.23 | | | | * Charcot-Marie-Tooth neuropathy Type 4G - CMT4G |
|
| Charcot-Marie-Tooth neuropathy Type 4H - (AR) | 14.24 | | | actin-filament binding protein Frabin
|
|
| | * Charcot-Marie-Tooth neuropathy Type 4H - CMT4H |
|
| Charcot-Marie-Tooth neuropathy Type 4J - (AR) | 14.25 | | | polyphosphoinositide phosphatase activity
|
|
| | * charcot-marie-tooth disease, type 4j - CMT4J |
|
| Charcot-Marie-Tooth neuropathy X-linked 1 - (XD) | 14.26 | | | gap junction protein, beta 1, 32kDa (connexin 32)
|
|
| | * Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 |
|
| Charcot-Marie-Tooth neuropathy X-linked 2 - (XR) | 14.27 | | | | * charcot-marie-tooth disease, x-linked recessive, 2 - CMTX2 |
|
| Charcot-Marie-Tooth neuropathy X-linked 3 - (XR) | 14.28 | | | | * charcot-marie-tooth disease, x-linked recessive, 3 - CMTX3 |
|
| Charcot-Marie-Tooth neuropathy X-linked 4 (Cowchock syndrome) - (XR) | 14.29 | | | | * Charcot-Marie-Tooth disease with deafness and mental retardation - NAMSD | | * Cowchock syndrome - NAMSD | | * Neuropathy, axonal motor-sensory, with deafness and mental retardation - NAMSD |
|
| Charcot-Marie-Tooth neuropathy X-linked 5 (with hearing loss and optic neuropathy) - (XR) | 14.30 | | | phosphoribosyl pyrophosphate synthetase 1
|
|
| | * charcot-marie-tooth disease, x-linked recessive, 5 - CMTX5 |
|
| Dejerine-Sottas hypertrophic neuropathy, dominant - (AD) | 14.31 | | | peripheral myelin protein 22
|
|
| | * Charcot-Marie-Tooth disease, type 1A - CMT1A | | * Charcot-Marie-Tooth disease, type 1E - CMT1E | | * Dejerine-Sottas Syndrome - DSSB | | * Neuropathy, recurrent, with pressure palsies - HNPP |
|
| Dejerine-Sottas hypertrophic neuropathy, dominant - (AD) | 14.32 | | | | * Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID | | * Charcot-Marie-Tooth disease, type 1B - CMT1B | | * Charcot-Marie-Tooth disease, type 2I - CMT2I | | * Charcot-Marie-Tooth disease, type 2J - CMT2J | | * Dejerine-Sottas syndrome - DSSA | | * Neuropathy, congenital hypomyelinating - CMT4E |
|
| Dejerine-Sottas hypertrophic neuropathy, dominant - (AD digenic) | 14.33 | | | early growth response 2 protein
|
| | gap junction protein, beta 1, 32kDa (connexin 32)
|
|
| | * Charcot-Marie-Tooth disease, type 1D - CMT1D | | * Charcot-Marie-Tooth neuropathy Type 4E - CMT4E | | * Dejerine-Sottas neuropathy - DSN | | * Neuropathy, congenital hypomyelinating - CHN | | * Charcot-Marie-Tooth neuropathy, X-linked - CMTX1 |
|
| Dejerine-Sottas hypertrophic neuropathy, recessive - (AR) | 14.34 | | | | * Charcot-Marie-Tooth disease, type 4F - CMT4F | | * Dejerine-Sottas neuropathy, autosomal recessive - CMT4F |
|
| Charcot-Marie-Tooth neuropathy Type 2A1 - (AD) | 14.35 | | | | * Charcot-Marie-Tooth disease, type 2A1 - CMT2A1 |
|
| Charcot-Marie-Tooth neuropathy Type 2A2 - (AD) | 14.36 | | | | * Hereditary motor and sensory neuropathy 2A - CMT2A |
|
| Charcot-Marie-Tooth neuropathy Type 2B - (AD) | 14.37 | | | member RAS oncogene family
|
|
| | * Charcot-Marie-Tooth neuropathy Type 2B - CMT2B |
|
| Charcot-Marie-Tooth neuropathy Type 2C - (AD) | 14.38 | | | transient receptor potential cation channel, subfamily V, member 4
|
|
| | * Scapuloperoneal spinal muscular atrophy - SPSMA | | * Spinal muscular atrophy congenital non progressive of lower limbs - SMAL | | * Spinal muscular atrophy, congenital benin, with contractures - SMAL |
|
| Charcot-Marie-Tooth neuropathy Type 2D - (AD) | 14.39 | | | | * Charcot-Marie-Tooth disease, axonal, type 2D - CMT2D | | * Neuropathy, distal hereditary motor type V - HMN V | | * Spinal muscular atrophy, distal, type V - DSMAV |
|
| Charcot-Marie-Tooth neuropathy Type 2E - (AD) | 14.40 | | | neurofilament, light polypeptide 68kDa
|
|
| | * Charcot-Marie-Tooth disease, type 1F - CMT1F | | * Charcot-Marie-Tooth disease, type 2E - CMT2E |
|
| Charcot-Marie-Tooth neuropathy Type 2F - (AD) | 14.41 | | | heat shock 27kDa protein 1
|
|
| | * Charcot-Marie-Tooth neuropathy Type 2F - CMT2F | | * Neuropathy, distal hereditary motor, type IIB - HMN2B |
|
| Charcot-Marie-Tooth neuropathy Type 2G - (AD) | 14.42 | | | | * Charcot-Marie-Tooth neuropathy Type 2G - CMT2G |
|
| Charcot-Marie-Tooth neuropathy Type 2H - (AD) | 14.43 | | | | * Charcot-Marie-Tooth neuropathy Type 2H - CMT2H |
|
| Charcot-Marie-Tooth neuropathy Type 2I (late onset) - (AD) | 14.44 | | | | * Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID | | * Charcot-Marie-Tooth disease, type 1B - CMT1B | | * Charcot-Marie-Tooth disease, type 2I - CMT2I | | * Charcot-Marie-Tooth disease, type 2J - CMT2J | | * Dejerine-Sottas syndrome - DSSA | | * Neuropathy, congenital hypomyelinating - CMT4E |
|
| Charcot-Marie-Tooth neuropathy Type 2J (with hearing loss and pupillary abnormality) - (AD) | 14.45 | | | | * Charcot-Marie-Tooth disease, dominant intermediate D - CMTDID | | * Charcot-Marie-Tooth disease, type 1B - CMT1B | | * Charcot-Marie-Tooth disease, type 2I - CMT2I | | * Charcot-Marie-Tooth disease, type 2J - CMT2J | | * Dejerine-Sottas syndrome - DSSA | | * Neuropathy, congenital hypomyelinating - CMT4E |
|
| Charcot-Marie-Tooth neuropathy Type 2K - (AD, AR) | 14.46 | | | ganglioside-induced differentiation-associated protein 1
|
|
| | * Charcot-Marie-Tooth disease, mixed axonal and demyelinating type - CMT4A | | * Charcot-Marie-Tooth disease, type 2K - CMT2K | | * Charcot-Marie-Tooth disease, type 4A - CMT4A |
|
| Charcot-Marie-Tooth neuropathy Type 2L - (AD) | 14.47 | | | heat shock 27kDa protein 8
|
|
| | * Charcot-Marie-Tooth neuropathy Type 2L - CMT2L | | * Neuropathy, distal hereditary motor, type II - HMN2A |
|
| Charcot-Marie-Tooth neuropathy Type 2N - (AD) | 14.48 | | | | * Charcot-Marie-Tooth disease, axonal, type 2N - CMT2N |
|
| Charcot-Marie-Tooth neuropathy Type 2O - (AD) | 14.49 | | | dynein, cytoplasmic 1, heavy chain 1
|
|
| | * Charcot-Marie-Tooth disease, axonal, type 20 - CMT2O |
|
| Hereditary motor and sensory neuropathy, Okinawa type - (AD) | 14.50 | | | | * Hereditary motor and sensory, neuropathy, proximal, type - HMSNP | | * Neuropathy, hereditary motor and sensory, Okinawa type - HMSNO |
|
| Charcot-Marie-Tooth neuropathy Autosomal recessive CMT2A - (AR) | 14.51 | | | | * Cardiomyopathy, dilated, 1A - CMD1A | | * Charcot-Marie-Tooth disease, axonal, type 2B1 - CMT2B1 | | * Emery-Dreifuss Autosomal recessive - EDMD3 | | * Emery-Dreifuss muscular dystrophy, autosomal dominant - EDMD2 | | * Hutchinson-Gilford progeria syndrome - HGPS | | * Lipodystrophy, familial partial, type 2 - FPLD2 | | * Mandibuloacral dysplasia with type a lipodystrophy - MADA | | * Muscular dystrophy, limb-girdle, type 1B - LGMD1B | | * restrictive dermopathy |
|
| Charcot-Marie-Tooth neuropathy Autosomal recessive CMT2B - (AR) | 14.52 | | | mediator complex subunit 25
|
|
| | * Charcot-Marie-Tooth disease, type 2B2 - CMT2B2 |
|
| Hereditary sensory and autonomic neuropathy type I - (AD) | 14.53 | | | serine palmitoyltransferase subunit 1
|
|
| | * Neuropathy, hereditary sensory and autonomic, type 1 - HSAN1 | | * Neuropathy, hereditary sensory, type 1 - HSN1 |
|
| Hereditary sensory and autonomic neuropathy type IB with cough and gastroesophageal reflux - (AD) | 14.54 | | | | * hereditary sensory and autonomic neuropathy type ib with cough and gastroesophag - HSAN1B |
|
| Hereditary sensory and autonomic neuropathy type I - (AD) | 14.55 | | | serine palmitoyltransferase long chain base subunit 2
|
|
| | * Neuropathy, hereditary sensory and autonomic, type IC - HSAN1C |
|
| Hereditary sensory neuropathy type ID - (AD) | 14.56 | | | | * Neuropathy, hereditary sensory, type ID - HSN1D |
|
| Hereditary sensory neuropathy, type IIC - (AD) | 14.57 | | | | * Neuropathy, hereditary sensory, type IIC - HSN2C | | * Spastic paraplegia 30 - SPG30 |
|
| Hereditary sensory and autonomic neuropathy type II - (AR) | 14.58 | | | WNK lysine deficient protein kinase 1
|
|
| | * neuropathy, hereditary sensory and autonomic, type iia - HSAN2 |
|
| Hereditary sensory and autonomic neuropathy type III (Familial dysautonomia, Riley-Day syndrome) - (AR) | 14.59 | | | inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
|
|
| | * Familial dysautonomia (Riley-Day syndrome) | | * Neuropathy, hereditary sensory and autonomic, type III - HSAN3 |
|
| Hereditary sensory and autonomic neuropathy type V - (AR) | 14.60 | | | nerve growth factor (beta polypeptide)
|
|
| | * neuropathy, hereditary sensory and autonomic type v - HSAN5 |
|
| Hereditary motor and sensory neuropathy-Lom (with deafness) - (AR) | 14.61 | | | N-myc downstream regulated gene 1
|
|
| | * Charcot-Marie-Tooth disease, type 4D - CMT4D | | * Neuropathy, hereditary motor and sensory, lom type - HMSNL |
|
| Hereditary sensory neuropathy with dementia and hearing loss - (AD) | 14.62 | | | DNA (cytosine-5)-methyltransferase 1
|
|
| | * Hereditary sensory neuropathy with dementia and hearing loss | | * Neuropathy, hereditary sensory, type 1E - HSN1E |
|
| Peripheral neuropathy and agenesis of the corpus callosum (Charlevoix disease) - (AR) | 14.63 | | | potassium chloride cotransporter KCC3
|
|
| | * Agenesis of the corpus callosum with peripheral neuropathy - ACCPN | | * Andermann syndrome - SLC12A6 | | * Charlevoix disease - SLC12A6 |
|
| Hereditary neuralgic amyotrophy (familial brachial plexus neuropathy) - (AD) | 14.64 | | | | * Familial brachial plexus neuropathy - HNA |
|
| Giant axonal neuropathy - (AR) | 14.65 | | | | * Giant axonal neuropathy-1 - GAN1 |
|
| Congenital cataracts, facial dysmorphism and neuropathy - (AR) | 14.66 | | | CTD phosphatase subunit 1
|
|
| | * congenital cataracts, facial dysmorphism, and neuropathy - CCFDN |
|
