MCID: CHR422
MIFTS: 34

Charcot-Marie-Tooth Disease, Dominant Intermediate B

Categories: Genetic diseases, Neuronal diseases, Rare diseases, Metabolic diseases, Muscle 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 57 73
Cmtdib 57 12 59 75
Di-Cmtb 57 12 75
Cmtdi1 57 12 75
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B 12 75
Charcot-Marie-Tooth Disease Dominant Intermediate B 12 15
Charcot-Marie-Tooth Disease, Type 2m 29 6
Cmt2m 59 75
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 59
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m 75
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B ) 40
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B 75
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B 57
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m 59
Charcot-Marie-Tooth Neuropathy Axonal Type 2m 75
Charcot-Marie-Tooth Disease, Axonal, Type 2m 13
Charcot-Marie-Tooth Disease, Axonal Type 2m 57
Charcot-Marie-Tooth Disease Axonal Type 2m 75
Charcot-Marie-Tooth Disease 2m 75

Characteristics:

Orphanet epidemiological data:

59
autosomal dominant charcot-marie-tooth disease type 2m
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

57
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:

32
charcot-marie-tooth disease, dominant intermediate b:
Inheritance heterogeneous autosomal dominant inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

OMIM 57 606482
Disease Ontology 12 DOID:0110197
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 74 C1847902
MeSH 44 D002607
UMLS 73 C1847902

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

UniProtKB/Swiss-Prot : 75 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. Nerve conduction velocities are normal or slightly reduced. 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), and among its related pathways/superpathways is G-protein signaling G-Protein alpha-i signaling cascades. Related phenotypes are peripheral axonal degeneration and hyporeflexia

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

OMIM : 57 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 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
Pmp2-Related Charcot-Marie-Tooth Disease Type 1 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 15)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate a 31.4 DNM2 PLEK
2 dnm2-related intermediate charcot-marie-tooth neuropathy 11.5
3 autosomal dominant intermediate charcot-marie-tooth disease type b 11.5
4 charcot-marie-tooth disease, dominant intermediate c 9.9 DNM2 PLEK
5 myopathy, centronuclear, x-linked 9.8 DNM2 MTM1
6 brachial plexus neuritis 9.7 DNM2 MTM1
7 myopathy, centronuclear, 1 9.6 DNM2 RYR1
8 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 9.5 DNM2 MTM1
9 central core myopathy 9.4 MTM1 RYR1
10 muscle tissue disease 9.3 MTM1 RYR1
11 neuromuscular disease 9.2 MTM1 RYR1
12 myopathy, congenital 8.9 DNM2 MTM1 RYR1
13 centronuclear myopathy 8.9 DNM2 MTM1 RYR1
14 ptosis 8.9 DNM2 MTM1 RYR1
15 myopathy 8.3 DNM2 MTM1 RYR1

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

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 peripheral axonal degeneration 32 HP:0000764
2 hyporeflexia 32 HP:0001265
3 areflexia 32 HP:0001284
4 pes cavus 32 HP:0001761
5 distal muscle weakness 32 HP:0002460
6 distal sensory impairment 32 HP:0002936
7 decreased number of peripheral myelinated nerve fibers 32 HP:0003380
8 onion bulb formation 32 HP:0003383
9 segmental peripheral demyelination/remyelination 32 HP:0003481
10 distal amyotrophy 32 HP:0003693
11 segmental peripheral demyelination 32 occasional (7.5%) HP:0007107
12 axonal degeneration 32 HP:0040078

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Sindbis virus (SINV) infection GR00310-A-1 8.8 DNM2
2 Increased Sindbis virus (SINV) infection GR00310-A-2 8.8 DNM2 RYR1

MGI Mouse Phenotypes related to Charcot-Marie-Tooth Disease, Dominant Intermediate B:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.8 DNM2 MTM1 RYR1

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, Type 2m 29

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

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

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

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

75
# 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 175)
# Gene Variation Type Significance SNP ID Assembly Location
1 DNM2 DNM2, 9-BP DEL, NT1652 deletion Pathogenic
2 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh37 Chromosome 19, 10904508: 10904508
3 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 GRCh38 Chromosome 19, 10793832: 10793832
4 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh37 Chromosome 19, 10909219: 10909219
5 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 GRCh38 Chromosome 19, 10798543: 10798543
6 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh37 Chromosome 19, 10904505: 10904505
7 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 GRCh38 Chromosome 19, 10793829: 10793829
8 DNM2 NM_001005360.2(DNM2): c.1609G> T (p.Gly537Cys) single nucleotide variant Pathogenic rs121909093 GRCh37 Chromosome 19, 10922991: 10922991
9 DNM2 NM_001005360.2(DNM2): c.1609G> T (p.Gly537Cys) single nucleotide variant Pathogenic rs121909093 GRCh38 Chromosome 19, 10812315: 10812315
10 DNM2 NM_001005360.2(DNM2): c.1709T> A (p.Leu570His) single nucleotide variant Pathogenic rs121909094 GRCh37 Chromosome 19, 10930693: 10930693
11 DNM2 NM_001005360.2(DNM2): c.1709T> A (p.Leu570His) single nucleotide variant Pathogenic rs121909094 GRCh38 Chromosome 19, 10820017: 10820017
12 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
13 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh38 Chromosome 19, 10823862: 10823862
14 DNM2 NM_001190716.1(DNM2): c.1072G> A (p.Gly358Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606772 GRCh37 Chromosome 19, 10904475: 10904475
15 DNM2 NM_001190716.1(DNM2): c.1072G> A (p.Gly358Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606772 GRCh38 Chromosome 19, 10793799: 10793799
16 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh37 Chromosome 19, 10870493: 10870493
17 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh38 Chromosome 19, 10759817: 10759817
18 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh37 Chromosome 19, 10893769: 10893769
19 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh38 Chromosome 19, 10783093: 10783093
20 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh37 Chromosome 19, 10922947: 10922947
21 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh38 Chromosome 19, 10812271: 10812271
22 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh37 Chromosome 19, 10935741: 10935741
23 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh38 Chromosome 19, 10825065: 10825065
24 DNM2 NM_001005360.2(DNM2): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs114682382 GRCh37 Chromosome 19, 10940995: 10940995
25 DNM2 NM_001005360.2(DNM2): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs114682382 GRCh38 Chromosome 19, 10830319: 10830319
26 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh37 Chromosome 19, 10941061: 10941061
27 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh38 Chromosome 19, 10830385: 10830385
28 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh37 Chromosome 19, 10870407: 10870407
29 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh38 Chromosome 19, 10759731: 10759731
30 DNM2 NM_001005360.2(DNM2): c.216G> A (p.Gln72=) single nucleotide variant Conflicting interpretations of pathogenicity rs368075301 GRCh37 Chromosome 19, 10870468: 10870468
31 DNM2 NM_001005360.2(DNM2): c.216G> A (p.Gln72=) single nucleotide variant Conflicting interpretations of pathogenicity rs368075301 GRCh38 Chromosome 19, 10759792: 10759792
32 DNM2 NM_001005360.2(DNM2): c.90C> T (p.Asp30=) single nucleotide variant Likely benign rs759919549 GRCh38 Chromosome 19, 10718332: 10718332
33 DNM2 NM_001005360.2(DNM2): c.90C> T (p.Asp30=) single nucleotide variant Likely benign rs759919549 GRCh37 Chromosome 19, 10829008: 10829008
34 DNM2 NM_001005360.2(DNM2): c.2592C> T (p.Ala864=) single nucleotide variant Likely benign rs373161548 GRCh38 Chromosome 19, 10831026: 10831026
35 DNM2 NM_001005360.2(DNM2): c.2592C> T (p.Ala864=) single nucleotide variant Likely benign rs373161548 GRCh37 Chromosome 19, 10941702: 10941702
36 DNM2 NM_001190716.1(DNM2): c.1021G> A (p.Glu341Lys) single nucleotide variant Likely pathogenic rs864309705 GRCh38 Chromosome 19, 10793748: 10793748
37 DNM2 NM_001190716.1(DNM2): c.1021G> A (p.Glu341Lys) single nucleotide variant Likely pathogenic rs864309705 GRCh37 Chromosome 19, 10904424: 10904424
38 DNM2 NM_001005360.2(DNM2): c.555C> T (p.Asp185=) single nucleotide variant Likely benign rs140788791 GRCh38 Chromosome 19, 10775872: 10775872
39 DNM2 NM_001005360.2(DNM2): c.555C> T (p.Asp185=) single nucleotide variant Likely benign rs140788791 GRCh37 Chromosome 19, 10886548: 10886548
40 DNM2 NM_001005360.2(DNM2): c.210T> C (p.Ile70=) single nucleotide variant Likely benign rs878854149 GRCh38 Chromosome 19, 10759786: 10759786
41 DNM2 NM_001005360.2(DNM2): c.210T> C (p.Ile70=) single nucleotide variant Likely benign rs878854149 GRCh37 Chromosome 19, 10870462: 10870462
42 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh38 Chromosome 19, 10829137: 10829137
43 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh37 Chromosome 19, 10939813: 10939813
44 DNM2 NM_001005360.2(DNM2): c.316G> A (p.Asp106Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs375151459 GRCh38 Chromosome 19, 10772559: 10772559
45 DNM2 NM_001005360.2(DNM2): c.316G> A (p.Asp106Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs375151459 GRCh37 Chromosome 19, 10883235: 10883235
46 DNM2 NM_001005360.2(DNM2): c.839C> T (p.Thr280Met) single nucleotide variant Uncertain significance rs202155679 GRCh38 Chromosome 19, 10783110: 10783110
47 DNM2 NM_001005360.2(DNM2): c.839C> T (p.Thr280Met) single nucleotide variant Uncertain significance rs202155679 GRCh37 Chromosome 19, 10893786: 10893786
48 DNM2 NM_001005360.2(DNM2): c.1609G> A (p.Gly537Ser) single nucleotide variant Likely pathogenic rs121909093 GRCh38 Chromosome 19, 10812315: 10812315
49 DNM2 NM_001005360.2(DNM2): c.1609G> A (p.Gly537Ser) single nucleotide variant Likely pathogenic rs121909093 GRCh37 Chromosome 19, 10922991: 10922991
50 DNM2 NM_001005360.2(DNM2): c.1969C> T (p.Arg657Cys) single nucleotide variant Uncertain significance rs772920450 GRCh38 Chromosome 19, 10825132: 10825132

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

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
10.99 DNM2 RYR1

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 cell GO:0005623 9.16 MTM1 RYR1
2 ruffle membrane GO:0032587 8.96 DNM2 PLEK
3 I band GO:0031674 8.62 MTM1 RYR1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....