CMT2I
MCID: CHR652
MIFTS: 38

Charcot-Marie-Tooth Disease, Axonal, Type 2i (CMT2I)

Categories: Ear diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Charcot-Marie-Tooth Disease, Axonal, Type 2i

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Axonal, Type 2i:

Name: Charcot-Marie-Tooth Disease, Axonal, Type 2i 57 20
Charcot-Marie-Tooth Disease Type 2i 12 20 29 6 15
Charcot-Marie-Tooth Disease, Type 2i 57 13 39 70
Cmt2i 57 12 58 72
Charcot-Marie-Tooth Neuropathy Type 2i 12 72
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2i 58
Charcot-Marie-Tooth Disease Neuronal Type 2i 72
Charcot-Marie-Tooth Disease Axonal Type 2i 72
Charcot-Marie-Tooth Neuropathy, Type 2i 57
Charcot Marie Tooth Disease Type 2i 20
Charcot-Marie-Tooth Disease 2i 72
Cmt 2i 20

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2i
Inheritance: Autosomal dominant; Age of onset: Adult;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
usually begins in feet and legs (peroneal distribution)
upper limb involvement may occur later
onset in fourth to sixth decade
genetic heterogeneity of axonal cmt (see cmt2a )


HPO:

31
charcot-marie-tooth disease, axonal, type 2i:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110158
OMIM® 57 607677
OMIM Phenotypic Series 57 PS118220
MeSH 44 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 71 C3888087
Orphanet 58 ORPHA99942
UMLS 70 C3888087

Summaries for Charcot-Marie-Tooth Disease, Axonal, Type 2i

UniProtKB/Swiss-Prot : 72 Charcot-Marie-Tooth disease 2I: A dominant axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.

MalaCards based summary : Charcot-Marie-Tooth Disease, Axonal, Type 2i, also known as charcot-marie-tooth disease type 2i, is related to charcot-marie-tooth disease, axonal, type 2l and charcot-marie-tooth disease type 2l. An important gene associated with Charcot-Marie-Tooth Disease, Axonal, Type 2i is MPZ (Myelin Protein Zero). Related phenotypes are areflexia and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23.

More information from OMIM: 607677 PS118220

Related Diseases for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Diseases in the Charcot-Marie-Tooth Disease, Axonal, Type 2e family:

Charcot-Marie-Tooth Disease, Axonal, Type 2a1 Charcot-Marie-Tooth Disease, Axonal, Type 2b
Charcot-Marie-Tooth Disease, Axonal, Type 2d Charcot-Marie-Tooth Disease, Axonal, Type 2b1
Charcot-Marie-Tooth Disease, Axonal, Type 2b2 Charcot-Marie-Tooth Disease, Axonal, Type 2f
Charcot-Marie-Tooth Disease, Axonal, Type 2i Charcot-Marie-Tooth Disease, Axonal, Type 2h
Charcot-Marie-Tooth Disease, Axonal, Type 2j Charcot-Marie-Tooth Disease, Axonal, Type 2k
Charcot-Marie-Tooth Disease, Axonal, Type 2l Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2a2a
Charcot-Marie-Tooth Disease, Axonal, Type 2n Charcot-Marie-Tooth Disease, Axonal, Type 2o
Charcot-Marie-Tooth Disease, Axonal, Type 2p Charcot-Marie-Tooth Disease, Axonal, Type 2q
Charcot-Marie-Tooth Disease, Axonal, Type 2r Charcot-Marie-Tooth Disease, Axonal, Type 2u
Charcot-Marie-Tooth Disease, Axonal, Type 2v Charcot-Marie-Tooth Disease, Axonal, Type 2w
Charcot-Marie-Tooth Disease, Axonal, Type 2x Charcot-Marie-Tooth Disease, Axonal, Type 2z
Charcot-Marie-Tooth Disease, Axonal, Type 2cc Charcot-Marie-Tooth Disease, Axonal, Type 2t
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2a2b Charcot-Marie-Tooth Disease, Axonal, Type 2dd
Charcot-Marie-Tooth Disease, Axonal, Type 2ee Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due to Copper Metabolism Defect

Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2i via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 83)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2l 30.9 NEFL MPZ KIF1B HSPB8 GDAP1 GARS1
2 charcot-marie-tooth disease type 2l 11.5
3 pupil disease 10.3 MPZ GDAP1
4 argyll robertson pupil 10.2 MPZ GDAP1
5 abnormal pupillary function 10.2 MPZ GDAP1
6 genetic motor neuron disease 10.2 SH3TC2 MPZ
7 spinal muscular atrophy with lower extremity predominance 10.2 GDAP1 GARS1
8 charcot-marie-tooth disease, recessive intermediate a 10.2 HSPB8 GDAP1
9 mononeuropathy 10.1 SH3TC2 MPZ
10 charcot-marie-tooth disease type 5 10.1 PRX GARS1
11 spinal muscular atrophy, distal, autosomal recessive, 2 10.1 HSPB8 GARS1
12 charcot-marie-tooth disease, x-linked recessive, 2 10.1 MPZ GJB1
13 charcot-marie-tooth disease, axonal, type 2t 10.1 SH3TC2 GDAP1
14 charcot-marie-tooth disease, axonal, type 2k 10.1 HSPB8 GDAP1
15 autoimmune peripheral neuropathy 10.1 MPZ GJB1
16 nerve compression syndrome 10.1 SH3TC2 MPZ
17 charcot-marie-tooth disease, dominant intermediate e 10.1 SH3TC2 MPZ GDAP1
18 charcot-marie-tooth disease, type 4b3 10.1 SH3TC2 MPZ GDAP1
19 charcot-marie-tooth disease, dominant intermediate b 10.1 SH3TC2 MPZ GDAP1
20 developmental and epileptic encephalopathy 29 10.1 GARS1 AARS1
21 charcot-marie-tooth disease, recessive intermediate b 10.1 GARS1 AARS1
22 brachial plexus neuropathy 10.1 MPZ GJB1
23 thoracic outlet syndrome 10.0 KIF1B GARS1
24 neuropathy, hereditary motor and sensory, russe type 10.0 SH3TC2 MED25 GDAP1
25 distal hereditary motor neuronopathy type 2 10.0 MPZ HSPB8 GARS1
26 muscular atrophy 10.0 SH3TC2 HSPB8 GARS1
27 charcot-marie-tooth disease, axonal, type 2w 10.0 MPZ GJB1 GDAP1
28 motor peripheral neuropathy 10.0 SH3TC2 HSPB8 GARS1
29 charcot-marie-tooth disease x-linked recessive 4 10.0 MPZ GJB1
30 charcot-marie-tooth disease, axonal, type 2n 10.0 GDAP1 GARS1 AARS1
31 spastic paraplegia 17, autosomal dominant 10.0 HSPB8 GARS1
32 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1
33 neuropathy, hereditary sensory and autonomic, type iia 9.9 SH3TC2 HSPB8 GDAP1
34 charcot-marie-tooth disease, dominant intermediate d 9.9 SH3TC2 MPZ KIF1B
35 hereditary neuropathies 9.9 PRX MPZ GJB1
36 waardenburg syndrome, type 4a 9.9 MPZ GJB1
37 carpal tunnel syndrome 9.9 SH3TC2 MPZ
38 charcot-marie-tooth disease, demyelinating, type 4f 9.9 SH3TC2 PRX MPZ GDAP1
39 charcot-marie-tooth disease, type 4h 9.9 SH3TC2 PRX MPZ GDAP1
40 charcot-marie-tooth disease, type 4j 9.9 SH3TC2 PRX MPZ GDAP1
41 charcot-marie-tooth disease, type 4b1 9.9 SH3TC2 PRX MPZ GDAP1
42 charcot-marie-tooth disease, axonal, type 2u 9.9 GJB1 GARS1 AARS1
43 charcot-marie-tooth disease, type 4c 9.8 SH3TC2 MPZ GJB1 GDAP1
44 giant axonal neuropathy 2 9.8 NEFL HSPB8
45 axonal neuropathy 9.8 NEFL GDAP1 GARS1
46 charcot-marie-tooth disease, dominant intermediate a 9.8 PRX MPZ GJB1 GDAP1
47 neuronopathy, distal hereditary motor, type va 9.8 HSPB8 GDAP1 GARS1 AARS1
48 sensory peripheral neuropathy 9.8 PRX MPZ GJB1 GDAP1
49 autosomal dominant distal hereditary motor neuronopathy 9.7 SH3TC2 HSPB8 GARS1 AARS1
50 slowed nerve conduction velocity, autosomal dominant 9.7 NEFL MPZ GJB1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2i:



Diseases related to Charcot-Marie-Tooth Disease, Axonal, Type 2i

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Human phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2i:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 areflexia 31 HP:0001284
2 pes cavus 31 HP:0001761
3 hyporeflexia 31 HP:0001265
4 steppage gait 31 HP:0003376
5 distal muscle weakness 31 HP:0002460
6 distal sensory impairment 31 HP:0002936
7 distal amyotrophy 31 HP:0003693
8 upper limb muscle weakness 31 HP:0003484
9 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
10 axonal degeneration/regeneration 31 HP:0003378

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
distal limb muscle weakness due to peripheral neuropathy
distal limb muscle atrophy due to peripheral neuropathy
more
Skeletal Feet:
pes cavus

Clinical features from OMIM®:

607677 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Axonal, Type 2i:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.9 AARS1 GARS1 GDAP1 GJB1 HSPB8 KIF1B
2 muscle MP:0005369 9.35 AARS1 GARS1 HSPB8 KIF1B SH3TC2
3 nervous system MP:0003631 9.32 AARS1 GARS1 GDAP1 GJB1 HSPB8 KIF1B

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Genetic Tests for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Genetic tests related to Charcot-Marie-Tooth Disease, Axonal, Type 2i:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease Type 2i 29 MPZ

Anatomical Context for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Publications for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Articles related to Charcot-Marie-Tooth Disease, Axonal, Type 2i:

(show all 11)
# Title Authors PMID Year
1
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. 57 6
14638973 2003
2
Charcot-Marie-Tooth disease and related neuropathies: mutation distribution and genotype-phenotype correlation. 6 57
11835375 2002
3
Charcot-Marie-Tooth disease type 2 associated with mutation of the myelin protein zero gene. 6 57
9595994 1998
4
Late onset Charcot-Marie-Tooth 2 syndrome caused by two novel mutations in the MPZ gene. 6
15249646 2004
5
Charcot-Marie-Tooth neuropathy type 2 and P0 point mutations: two novel amino acid substitutions (Asp61Gly; Tyr119Cys) and a possible "hotspot" on Thr124Met. 57
10764043 2000
6
Multiple de novo MPZ (P0) point mutations in a sporadic Dejerine-Sottas case. 6
9222756 1997
7
Validation of the Italian version of the Charcot-Marie-Tooth Health Index. 61
32511835 2020
8
Immune-mediated inflammatory polyneuropathy overlapping Charcot-Marie-Tooth 1B. 61
32201027 2020
9
The spectrum of Charcot-Marie-Tooth disease due to myelin protein zero: An electrodiagnostic, nerve ultrasound and histological study. 61
29136549 2018
10
A Novel Asp121Asn Mutation of Myelin Protein Zero Is Associated with Late-Onset Axonal Charcot-Marie-Tooth Disease, Hearing Loss and Pupil Abnormalities. 61
27774063 2016
11
A new locus for autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2L) maps to chromosome 12q24. 61
15021985 2004

Variations for Charcot-Marie-Tooth Disease, Axonal, Type 2i

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2i:

6 (show all 13)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MPZ NM_000530.8(MPZ):c.266T>A (p.Ile89Asn) SNV Pathogenic 14182 rs267607244 GRCh37: 1:161276680-161276680
GRCh38: 1:161306890-161306890
2 MPZ NM_000530.8(MPZ):c.178G>C (p.Asp60His) SNV Pathogenic 14193 rs121913604 GRCh37: 1:161277104-161277104
GRCh38: 1:161307314-161307314
3 MPZ NM_000530.8(MPZ):c.186C>G (p.Ile62Met) SNV Pathogenic 14194 rs121913605 GRCh37: 1:161277096-161277096
GRCh38: 1:161307306-161307306
4 MPZ NM_000530.8(MPZ):c.499G>C (p.Gly167Arg) SNV Pathogenic 14170 rs121913586 GRCh37: 1:161276204-161276204
GRCh38: 1:161306414-161306414
5 MPZ NM_000530.8(MPZ):c.434A>C (p.Tyr145Ser) SNV Pathogenic 14191 rs121913603 GRCh37: 1:161276512-161276512
GRCh38: 1:161306722-161306722
6 MPZ NM_000530.8(MPZ):c.103G>A (p.Asp35Asn) SNV Pathogenic 462790 rs121913596 GRCh37: 1:161277179-161277179
GRCh38: 1:161307389-161307389
7 MPZ NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) SNV Pathogenic 14185 rs121913598 GRCh37: 1:161277151-161277151
GRCh38: 1:161307361-161307361
8 MPZ NM_000530.8(MPZ):c.371C>T (p.Thr124Met) SNV Pathogenic 14181 rs121913595 GRCh37: 1:161276575-161276575
GRCh38: 1:161306785-161306785
9 MPZ NM_000530.8(MPZ):c.397C>A (p.Pro133Thr) SNV Likely pathogenic 462797 rs1553259648 GRCh37: 1:161276549-161276549
GRCh38: 1:161306759-161306759
10 MPZ NM_000530.8(MPZ):c.451C>A (p.Pro151Thr) SNV Likely pathogenic 216963 rs754068936 GRCh37: 1:161276252-161276252
GRCh38: 1:161306462-161306462
11 MPZ NM_000530.8(MPZ):c.133C>T (p.Arg45Trp) SNV Uncertain significance 246524 rs200151353 GRCh37: 1:161277149-161277149
GRCh38: 1:161307359-161307359
12 MPZ NM_000530.8(MPZ):c.684C>T (p.Ser228=) SNV Benign 129619 rs34307129 GRCh37: 1:161275729-161275729
GRCh38: 1:161305939-161305939
13 MPZ NM_000530.8(MPZ):c.600G>A (p.Gly200=) SNV Benign 138242 rs16832790 GRCh37: 1:161275943-161275943
GRCh38: 1:161306153-161306153

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Axonal, Type 2i:

72 (show all 15)
# Symbol AA change Variation ID SNP ID
1 MPZ p.Ser44Phe VAR_004503 rs121913598
2 MPZ p.His81Arg VAR_004513 rs121913594
3 MPZ p.Thr124Met VAR_004529 rs121913595
4 MPZ p.Lys130Arg VAR_004534 rs281865127
5 MPZ p.Gly167Arg VAR_004544 rs121913586
6 MPZ p.Asp75Val VAR_015973 rs121913597
7 MPZ p.Ile89Asn VAR_015974 rs267607244
8 MPZ p.Val92Met VAR_015975 rs267607245
9 MPZ p.Ile162Met VAR_015980 rs267607246
10 MPZ p.Asp118Asn VAR_021609
11 MPZ p.Lys236Glu VAR_021610
12 MPZ p.Asp60His VAR_029972 rs121913604
13 MPZ p.Ile62Met VAR_029973 rs121913605
14 MPZ p.Asp61Gly VAR_031885 rs786204119
15 MPZ p.Tyr119Cys VAR_031891 rs879254038

Expression for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Axonal, Type 2i.

Pathways for Charcot-Marie-Tooth Disease, Axonal, Type 2i

GO Terms for Charcot-Marie-Tooth Disease, Axonal, Type 2i

Cellular components related to Charcot-Marie-Tooth Disease, Axonal, Type 2i according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 axon cytoplasm GO:1904115 8.62 NEFL KIF1B

Biological processes related to Charcot-Marie-Tooth Disease, Axonal, Type 2i according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 tRNA aminoacylation for protein translation GO:0006418 9.26 GARS1 AARS1
2 neuromuscular process controlling balance GO:0050885 9.16 NEFL AARS1
3 anterograde axonal transport GO:0008089 8.96 NEFL KIF1B
4 peripheral nervous system myelin maintenance GO:0032287 8.62 SH3TC2 PRX

Molecular functions related to Charcot-Marie-Tooth Disease, Axonal, Type 2i according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 aminoacyl-tRNA ligase activity GO:0004812 8.62 GARS1 AARS1

Sources for Charcot-Marie-Tooth Disease, Axonal, Type 2i

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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