CMT2M
MCID: CHR422
MIFTS: 33

Charcot-Marie-Tooth Disease, Dominant Intermediate B (CMT2M)

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

Aliases & Classifications for Charcot-Marie-Tooth Disease, Dominant Intermediate B

MalaCards integrated aliases for Charcot-Marie-Tooth Disease, Dominant Intermediate B:

Name: Charcot-Marie-Tooth Disease, Dominant Intermediate B 58 30 6 74
Cmtdib 58 12 60 76
Di-Cmtb 58 12 76
Cmtdi1 58 12 76
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B 12 76
Charcot-Marie-Tooth Disease Dominant Intermediate B 12 15
Charcot-Marie-Tooth Disease, Type 2m 30 6
Cmt2m 60 76
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 60
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m 76
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B ) 41
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B 76
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B 58
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m 60
Charcot-Marie-Tooth Neuropathy Axonal Type 2m 76
Charcot-Marie-Tooth Disease, Axonal, Type 2m 13
Charcot-Marie-Tooth Disease, Axonal Type 2m 58
Charcot-Marie-Tooth Disease Axonal Type 2m 76
Charcot-Marie-Tooth Disease 2m 76

Characteristics:

Orphanet epidemiological data:

60
autosomal dominant charcot-marie-tooth disease type 2m
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
onset in first or second decade
begins in feet and legs (peroneal distribution)
features intermediate between demyelinating cmt and axonal cmt
some families have axonal cmt (cmt2m)
genetic heterogeneity (see cmtdia, )


HPO:

33
charcot-marie-tooth disease, dominant intermediate b:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110197
OMIM 58 606482
MeSH 45 D002607
ICD10 34 G60.0
ICD10 via Orphanet 35 G60.0
UMLS via Orphanet 75 C1847902
UMLS 74 C1847902

Summaries for Charcot-Marie-Tooth Disease, Dominant Intermediate B

UniProtKB/Swiss-Prot : 76 Charcot-Marie-Tooth disease 2M: An 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. Charcot-Marie-Tooth disease, dominant, intermediate type, B: A 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. The dominant intermediate type B is characterized by clinical and pathologic features intermediate between demyelinating and axonal peripheral neuropathies, and motor median nerve conduction velocities ranging from 25 to 45 m/sec.

MalaCards based summary : Charcot-Marie-Tooth Disease, Dominant Intermediate B, also known as cmtdib, is related to charcot-marie-tooth disease, dominant intermediate a and dnm2-related intermediate charcot-marie-tooth neuropathy. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate B is DNM2 (Dynamin 2). Related phenotypes are segmental peripheral demyelination and pes cavus

Disease Ontology : 12 A Charcot-Marie-Tooth disease intermediate type that has material basis in mutation in the gene encoding dynamin-2 (DNM2).

OMIM : 58 Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous 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. (606482)

Related Diseases for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Diseases in the Charcot-Marie-Tooth Disease family:

Charcot-Marie-Tooth Disease, Type 4a Charcot-Marie-Tooth Disease, Type 4b1
Charcot-Marie-Tooth Disease, Type 4d Charcot-Marie-Tooth Disease, Type 4c
Charcot-Marie-Tooth Disease, Type 4b2 Charcot-Marie-Tooth Disease, Dominant Intermediate B
Charcot-Marie-Tooth Disease, Dominant Intermediate a Charcot-Marie-Tooth Disease, Dominant Intermediate C
Charcot-Marie-Tooth Disease, Recessive Intermediate a Charcot-Marie-Tooth Disease, Type 4h
Charcot-Marie-Tooth Disease, Type 4j Charcot-Marie-Tooth Disease, Recessive Intermediate B
Charcot-Marie-Tooth Disease, Type 4b3 Charcot-Marie-Tooth Disease, Recessive Intermediate C
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease Type X
Charcot-Marie-Tooth Disease Intermediate Type Charcot-Marie-Tooth Disease Type 5
Charcot-Marie-Tooth Disease Type 7 Charcot-Marie-Tooth Disease Type 2a2
Autosomal Dominant Intermediate Charcot-Marie-Tooth Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2c Charcot-Marie-Tooth Disease Type 2f
Charcot-Marie-Tooth Disease Type 2g Charcot-Marie-Tooth Disease Type 2k
Charcot-Marie-Tooth Disease Type 2l Charcot-Marie-Tooth Disease Type 2n
Charcot-Marie-Tooth Disease Type 2o Charcot-Marie-Tooth Disease Type 2q
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Kif5a Mutation Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Tfg Mutation
Dnajb2-Related Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due to Dgat2 Mutation
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2g

Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate B via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate a 31.6 DNM2 PLEK
2 dnm2-related intermediate charcot-marie-tooth neuropathy 11.7
3 autosomal dominant intermediate charcot-marie-tooth disease type b 11.7
4 charcot-marie-tooth disease, dominant intermediate c 9.9 DNM2 PLEK
5 charcot-marie-tooth disease 9.8 DNM2 MTM1
6 myopathy, centronuclear, x-linked 9.7 DNM2 MTM1
7 brachial plexus neuritis 9.7 DNM2 MTM1
8 centronuclear myopathy 9.7 DNM2 MTM1
9 myopathy, congenital 9.7 DNM2 MTM1
10 peripheral nervous system disease 9.6 DNM2 MTM1
11 ptosis 9.6 DNM2 MTM1
12 muscular disease 9.4 DNM2 MTM1

Graphical network of the top 20 diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:



Diseases related to Charcot-Marie-Tooth Disease, Dominant Intermediate B

Symptoms & Phenotypes for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Human phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 segmental peripheral demyelination 33 occasional (7.5%) HP:0007107
2 pes cavus 33 HP:0001761
3 areflexia 33 HP:0001284
4 hyporeflexia 33 HP:0001265
5 distal muscle weakness 33 HP:0002460
6 distal amyotrophy 33 HP:0003693
7 segmental peripheral demyelination/remyelination 33 HP:0003481
8 distal sensory impairment 33 HP:0002936
9 decreased number of peripheral myelinated nerve fibers 33 HP:0003380
10 onion bulb formation 33 HP:0003383
11 axonal degeneration 33 HP:0040078
12 peripheral axonal degeneration 33 HP:0000764

Symptoms via clinical synopsis from OMIM:

58
Skeletal Feet:
pes cavus

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
axonal degeneration
distal limb muscle weakness due to peripheral neuropathy
more

Clinical features from OMIM:

606482

GenomeRNAi Phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate B according to GeneCards Suite gene sharing:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.36 MTM1
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-141 9.36 MTM1
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 9.36 DNM2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.36 DNM2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.36 MTM1
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.36 MTM1
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-18 9.36 MTM1
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.36 DNM2 MTM1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.36 DNM2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.36 DNM2

Drugs & Therapeutics for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Search Clinical Trials , NIH Clinical Center for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Genetic Tests for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Genetic tests related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

# Genetic test Affiliating Genes
1 Charcot-Marie-Tooth Disease, Dominant Intermediate B 30 DNM2
2 Charcot-Marie-Tooth Disease, Type 2m 30

Anatomical Context for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Publications for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Articles related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

# Title Authors Year
1
Clinical utility gene card for: Centronuclear and myotubular myopathies. ( 22617344 )
2012
2
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. ( 19502294 )
2009
3
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. ( 18560793 )
2008
4
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. ( 17636067 )
2007
5
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. ( 15731758 )
2005

Variations for Charcot-Marie-Tooth Disease, Dominant Intermediate B

UniProtKB/Swiss-Prot genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate B:

76
# Symbol AA change Variation ID SNP ID
1 DNM2 p.Lys562Glu VAR_031967 rs121909088
2 DNM2 p.Gly537Cys VAR_062574 rs121909093
3 DNM2 p.Leu570His VAR_062575 rs121909094
4 DNM2 p.Gly358Arg VAR_068425 rs267606772

ClinVar genetic disease variations for Charcot-Marie-Tooth Disease, Dominant Intermediate B:

6 (show top 50) (show all 247)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 DNM2, 9-BP DEL, NT1652 deletion Pathogenic
2 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh37 Chromosome 19, 10904509: 10904509
3 DNM2 NM_001005360.2(DNM2): c.1106G> A (p.Arg369Gln) single nucleotide variant Pathogenic rs121909089 GRCh38 Chromosome 19, 10793833: 10793833
4 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
5 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh38 Chromosome 19, 10793832: 10793832
6 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
7 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh38 Chromosome 19, 10798543: 10798543
8 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
9 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh38 Chromosome 19, 10793829: 10793829
10 DNM2 NM_001005360.2(DNM2): c.1609G> T (p.Gly537Cys) single nucleotide variant Pathogenic rs121909093 GRCh37 Chromosome 19, 10922991: 10922991
11 DNM2 NM_001005360.2(DNM2): c.1609G> T (p.Gly537Cys) single nucleotide variant Pathogenic rs121909093 GRCh38 Chromosome 19, 10812315: 10812315
12 DNM2 NM_001005360.2(DNM2): c.1709T> A (p.Leu570His) single nucleotide variant Pathogenic rs121909094 GRCh37 Chromosome 19, 10930693: 10930693
13 DNM2 NM_001005360.2(DNM2): c.1709T> A (p.Leu570His) single nucleotide variant Pathogenic rs121909094 GRCh38 Chromosome 19, 10820017: 10820017
14 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
15 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121909095 GRCh38 Chromosome 19, 10823862: 10823862
16 DNM2 NM_001190716.1(DNM2): c.1072G> A (p.Gly358Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606772 GRCh37 Chromosome 19, 10904475: 10904475
17 DNM2 NM_001190716.1(DNM2): c.1072G> A (p.Gly358Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606772 GRCh38 Chromosome 19, 10793799: 10793799
18 DNM2 NM_001005360.2(DNM2): c.190G> A (p.Val64Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144250390 GRCh37 Chromosome 19, 10870442: 10870442
19 DNM2 NM_001005360.2(DNM2): c.190G> A (p.Val64Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144250390 GRCh38 Chromosome 19, 10759766: 10759766
20 DNM2 NM_001005360.2(DNM2): c.788C> T (p.Pro263Leu) single nucleotide variant Benign/Likely benign rs3745674 GRCh37 Chromosome 19, 10893735: 10893735
21 DNM2 NM_001005360.2(DNM2): c.788C> T (p.Pro263Leu) single nucleotide variant Benign/Likely benign rs3745674 GRCh38 Chromosome 19, 10783059: 10783059
22 DNM2 NM_001005360.2(DNM2): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs148790687 GRCh38 Chromosome 19, 10772481: 10772481
23 DNM2 NM_001005360.2(DNM2): c.238C> T (p.His80Tyr) single nucleotide variant Benign/Likely benign rs148790687 GRCh37 Chromosome 19, 10883157: 10883157
24 DNM2 NM_001005360.2(DNM2): c.1077C> T (p.Gly359=) single nucleotide variant Benign/Likely benign rs112238216 GRCh38 Chromosome 19, 10793804: 10793804
25 DNM2 NM_001005360.2(DNM2): c.1077C> T (p.Gly359=) single nucleotide variant Benign/Likely benign rs112238216 GRCh37 Chromosome 19, 10904480: 10904480
26 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh37 Chromosome 19, 10870493: 10870493
27 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh38 Chromosome 19, 10759817: 10759817
28 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh37 Chromosome 19, 10893769: 10893769
29 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh38 Chromosome 19, 10783093: 10783093
30 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh37 Chromosome 19, 10922947: 10922947
31 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh38 Chromosome 19, 10812271: 10812271
32 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh37 Chromosome 19, 10935741: 10935741
33 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh38 Chromosome 19, 10825065: 10825065
34 DNM2 NM_001005360.2(DNM2): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs114682382 GRCh37 Chromosome 19, 10940995: 10940995
35 DNM2 NM_001005360.2(DNM2): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs114682382 GRCh38 Chromosome 19, 10830319: 10830319
36 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh37 Chromosome 19, 10941061: 10941061
37 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh38 Chromosome 19, 10830385: 10830385
38 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh37 Chromosome 19, 10870407: 10870407
39 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh38 Chromosome 19, 10759731: 10759731
40 DNM2 NM_001005360.2(DNM2): c.216G> A (p.Gln72=) single nucleotide variant Conflicting interpretations of pathogenicity rs368075301 GRCh37 Chromosome 19, 10870468: 10870468
41 DNM2 NM_001005360.2(DNM2): c.216G> A (p.Gln72=) single nucleotide variant Conflicting interpretations of pathogenicity rs368075301 GRCh38 Chromosome 19, 10759792: 10759792
42 DNM2 NM_001005360.2(DNM2): c.90C> T (p.Asp30=) single nucleotide variant Likely benign rs759919549 GRCh38 Chromosome 19, 10718332: 10718332
43 DNM2 NM_001005360.2(DNM2): c.90C> T (p.Asp30=) single nucleotide variant Likely benign rs759919549 GRCh37 Chromosome 19, 10829008: 10829008
44 DNM2 NM_001005360.2(DNM2): c.2592C> T (p.Ala864=) single nucleotide variant Likely benign rs373161548 GRCh38 Chromosome 19, 10831026: 10831026
45 DNM2 NM_001005360.2(DNM2): c.2592C> T (p.Ala864=) single nucleotide variant Likely benign rs373161548 GRCh37 Chromosome 19, 10941702: 10941702
46 DNM2 NM_001190716.1(DNM2): c.1021G> A (p.Glu341Lys) single nucleotide variant Likely pathogenic rs864309705 GRCh38 Chromosome 19, 10793748: 10793748
47 DNM2 NM_001190716.1(DNM2): c.1021G> A (p.Glu341Lys) single nucleotide variant Likely pathogenic rs864309705 GRCh37 Chromosome 19, 10904424: 10904424
48 DNM2 NM_001005360.2(DNM2): c.555C> T (p.Asp185=) single nucleotide variant Likely benign rs140788791 GRCh38 Chromosome 19, 10775872: 10775872
49 DNM2 NM_001005360.2(DNM2): c.555C> T (p.Asp185=) single nucleotide variant Likely benign rs140788791 GRCh37 Chromosome 19, 10886548: 10886548
50 DNM2 NM_001005360.2(DNM2): c.210T> C (p.Ile70=) single nucleotide variant Likely benign rs878854149 GRCh38 Chromosome 19, 10759786: 10759786

Expression for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Search GEO for disease gene expression data for Charcot-Marie-Tooth Disease, Dominant Intermediate B.

Pathways for Charcot-Marie-Tooth Disease, Dominant Intermediate B

GO Terms for Charcot-Marie-Tooth Disease, Dominant Intermediate B

Cellular components related to Charcot-Marie-Tooth Disease, Dominant Intermediate B according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ruffle membrane GO:0032587 8.62 DNM2 PLEK

Sources for Charcot-Marie-Tooth Disease, Dominant Intermediate B

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