All known disease genes in CMT and related disorders
| Type (OMIM number) | Gene | Phenotype |
|---|---|---|
| Autosomal dominant CMT1 | ||
| CMT1A (118220) | 17p dup. (PMP22) PMP22 point mutation | Classic CMT1 Classic CMT1, DSD, CHN (rarely recessive) |
| CMT1B (118200) | MPZ | CMT1, DSD, CHN, CMT2 (rarely recessive) |
| CMT1C (601098) | LITAF | Classic CMT1 |
| CMT1D (607678) | EGR2 | Classic CMT1, DSD, CHN |
| CMT1F (607734) | NEFL | CMT2 but can have slow MCV in the CMT1 range (rarely recessive) |
| CMT1 plus (614434) | FBLN5 | Macular degeneration, cutis laxa, HMN, slow NCV |
| SNCV/CMT1 (608236) | ARHGEF10 | Asymptomatic slow conduction velocities |
| Hereditary neuropathy with liability to pressure palsies | ||
| HNPP (162500) | 17p del. (PMP22) PMP22 point mutation | Typical HNPP Typical HNPP |
| Autosomal recessive CMT1 | ||
| CMT4A (214400) | GDAP1 | CMT2, usually severe early onset Vocal cord and diaphragmatic paralysis described |
| CMT4B1 (601382) | MTMR2 | Severe CMT1, facial, bulbar, focally folded myelin |
| CMT4B2 (604563) | SBF2 | Severe CMT1, glaucoma, focally folded myelin |
| CMT4B3 (615284) | SBF1 | CMT1, focally folded myelin |
| CMT4C (601596) | SH3TC2 | Severe CMT1, scoliosis, cytoplasmic inclusions |
| CMT4D or HMSNL (601455) | NDRG1 | Severe CMT1, gypsy, deafness, tongue atrophy |
| CMT4E (605253) | EGR2 | CMT1, DSD, CHN phenotype |
| CMT4F (614895) | PRX | CMT1, predominantly sensory, focally folded myelin |
| CMT4G or HMSN Russe (605285) | HK1 | Severe early-onset CMT1, gypsy |
| CMT4H (609311) | FGD4 (Frabin) | Classic CMT1 |
| CMT4J (611228) | FIG4 | CMT1, predominantly motor, progressive |
| CCFDN (604168) | CTDP1 | CMT1, gypsy, cataracts, dysmorphic features |
| CMT4 | SURF-1 | CMT1, encephalopathy, ataxia, reduced life span, Leigh's syndrome |
| Autosomal dominant CMT2 | ||
| CMT2A (609260) | MFN2 | CMT2, progressive, optic atrophy (rarely recessive) |
| CMT2B or HSAN1B (600882) | RAB7 | CMT2 with sensory complications (ulcero mutilating) |
| CMT2C (606071) | TRPV4 | CMT2, vocal cord paralysis |
| CMT2D (601472) | GARS | CMT2 with predominant hand wasting |
| CMT2E (607684) | NEFL | CMT2 but can have nerve conduction velocities in the CMT1 range (rarely recessive) |
| CMT2F (606595) | HSPB1 | Motor-predominant CMT2 |
| CMT2I (607677) | MPZ | Late-onset CMT2 |
| CMT2J (607736) | MPZ | CMT2 with hearing loss and pupillary abnormalities |
| CMT2K (607831) | GDAP1 | Late-onset CMT2 (dominant), severe CMT2 (recessive) |
| CMT2L (608673) | HSPB8 | Motor-predominant CMT2 |
| CMTDIB or CMT2M (606482) | DNM2 | Intermediate CMT or CMT2, cataracts, ophthalmoplegia, ptosis |
| CMT2N (613287) | AARS | Classic CMT2 |
| CMT2P (614436) | LRSAM1 | Mild sensory-predominant CMT2 (dominant and recessive) |
| CMT2Q (615025) | DHTKD1 | CMT2 |
| HMSNP (604484) | TFG | CMT2 with proximal involvement |
| CMT2 | MARS | Late-onset CMT2 |
| CMT2 | HARS | CMT2 |
| CMT2 | VCP | CMT2 |
| SPG10 (604187) | KIF5A | CMT, hereditary spastic paraplegia |
| CMT2 | MT-ATP6 | CMT2, pyramidal signs, relapsing |
| Autosomal recessive CMT2 | ||
| CMT2B1 (605588) | LMNA | CMT2 rapid progression |
| CMT2B2 (605589) | MED25 | Classic CMT2 |
| NMAN (137200) | HINT1 | Neuromyotonia and axonal neuropathy, motor predominant |
| CMT2R (615490) | TRIM2 | Infantile-onset CMT2 |
| AR-CMT2 | IGHMBP2 | CMT2 |
| AR-CMT2 | HSJ1 | CMT2 |
| X-linked CMT | ||
| CMTX1 (302800) | GJB1 | Males CMT1 (patchy NCV); females CMT2 |
| CMTX4 or Cowchock'o syndrome (310490) | AIFM1 | CMT2, infantile onset, developmental delay, deafness, learning difficulties |
| CMTX5 (311070) | PRPS1 | CMT2, deafness, optic atrophy |
| CMTX6 (300905) | PDK3 | CMT2 |
| Dominant intermediate CMT | ||
| CMTDIB or CMT2M (606482) | DNM2 | Intermediate CMT or CMT2, cataracts, ophthalmoplegia, ptosis |
| CMTDIC (608323) | YARS | Intermediate CMT |
| CMTDID (607791) | MPZ | Intermediate CMT |
| CMTDIE (614455) | IFN2 | Intermediate CMT, focal segmental glomerulosclerosis, end-stage renal failure |
| CMTD1F (615185) | GNB4 | Intermediate CMT |
| Recessive intermediate CMT | ||
| CMTRIA (608340) | GDAP1 | Intermediate CMT |
| CMTRIB (613641) | KARS | Intermediate CMT, learning difficulty, vestibular schwannoma |
| CMTRIC (615376) | PLEKHG5 | Intermediate CMT, SMA |
| CMTRID (616039) | COX6A1 | Intermediate CMT, onset first decade |
| Hereditary motor neuropathy | ||
| HMN2A (158590) | HSPB8 | Classical HMN, dominant |
| HMN2B (608634) | HSPB1 | Classical HMN, dominant |
| HMN2C (613376) | HSPB3 | Classical HMN, dominant |
| HMN2D (615575) | FBXO38 | Classical HMN, dominant |
| HMN with pyramidal features or ALS4 (602433) | SETX | HMN with pyramidal signs, dominant |
| DSMA5 (614881) | DNAJB2 (HSJ1) | Classical HMN, recessive |
| HMN5A (600794) or SPG17 (270685) | BSCL2 | Predominant hand wasting, Silver syndrome but can have sensory involvement as in CMT2D, dominant |
| HMN5A (600794) | GARS | Predominant hand wasting, dominant |
| HMN5B (614751) or SPG31 (610250) | REEP1 | Predominant hand wasting, pyramidal signs, dominant |
| HMN6 or SMARD1 (604320) | IGHMBP2 | Infantile onset, respiratory distress, recessive |
| SMARD2 or SMAX | LAS1L | Infantile onset, respiratory distress, X-linked recessive |
| HMN7A (158580) | SLC5A7 | Classical HMN, vocal cord palsy, dominant |
| HMN7B (607641) | DCTN1 | HMN, bulbar and facial weakness, dominant |
| SMAX3 (300489) | ATP7A | Classical HMN, X-linked |
| SMALED (158600) | DYNC1H1 | Congenital, contractures, lower-limb predominant, pyramidal signs, cortical migration defects, learning difficulties, dominant |
| SMALED2 (615290) | BICD2 | Congenital, contractures, lower-limb predominant, pyramidal signs, dominant |
| PNMHH (614369) | MYH14 | Typical HMN, distal myopathy, hoarseness, hearing loss, dominant |
| SPSMA (181405) | TRPV4 | HMN, scapular winging, vocal cord palsy, dominant |
| HMN | AARS | Typical HMN, dominant |
| HMN | HINT1 | HMN with neuromyotonia, recessive |
| Hereditary sensory neuropathy (also called Hereditary sensory and autonomic neuropathy (HSAN)) | ||
| HSAN1A (162400) | SPTLC1 | HSN with sensory complications (ulcero mutilating), dominant |
| HSAN1C (613640) | SPTLC2 | HSN with sensory complications (ulcero mutilating), dominant |
| CMT2B (600882) | RAB7 | HSN with sensory complications (ulcero mutilating), dominant |
| HSN1D (613708) or SPG3A (182600) | ATL1 | HSN with sensory complications (ulcero mutilating), spasticity, dominant |
| HSN1E (614116) | DNMT1 | HSN, hearing loss, dementia, dominant |
| HSN1F (615632) | ATL3 | HSN, bone destruction, dominant |
| HSAN2A (201300) | WNK1 | HSN with sensory complications (ulcero mutilating), recessive |
| HSAN2B or HSAN1B (613115) | FAM134B | HSN with sensory complications (ulcero mutilating), recessive |
| HSN2C (614213) or SPG30 (610357) | KIF1A | HSN with sensory complications (ulcero mutilating), recessive |
| HSAN3, familial dysautonomia or Rileymia or Rileyt | IKBKAP | Ashkenazi Jewish, autonomic dysfunction, HSN, absent fungiform papillae, recessive |
| Insensitivity to pain (24300), paroxysmal extreme pain disorder (167400), primary erythermalgia (133020), small-fibre neuropathy | SCN9A | Recessive: insensitivity to pain Dominant: paroxysmal extreme pain disorder, primary erythermalgia, small fibre neuropathy |
| CIPA or HSAN4 (256800) | NTRK1 | Congenital insensitivity to pain with anhydrosis, recessive |
| HSAN5 (608654) | NGF-B | Insensitivity to pain, recessive |
| HSAN6 (614653) | DST | Ashkenazi Jewish, autonomic dysfunction, HSN, absent fungiform papillae, death by age 2, recessive |
| HSAN7 (615548) | SCN11A | Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction, dominant |
| HSAN and dementia | PRNP | Autonomic dysfunction, sensory loss, dementia, dominant |
| Hereditary sensory neuropathy with spastic paraplegia (256840) | CCT5 | HSN with sensory complications (ulcero mutilating) and spastic paraplegia, recessive |
CHN, congenital hypomyelinating neuropathy; CMT, Charcot–Marie–Tooth disease; DSD, Dejerine–Sottas disease; HMN, hereditary motor neuropathy; HNPP, hereditary neuropathy with liability to pressure palsies; HSN, hereditary sensory neuropathy; MCV, motor conduction velocity; NCV, nerve conduction velocity; SMA, spinal muscular atrophy; SNCV, slowed nerve conduction velocity.