CMTDIB
MCID: CHR422
MIFTS: 37

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

Categories: Eye diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Nephrological 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 57 29 6 72
Cmtdib 57 12 59 74
Di-Cmtb 57 12 74
Cmtdi1 57 12 74
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B 12 74
Charcot-Marie-Tooth Disease Dominant Intermediate B 12 15
Charcot-Marie-Tooth Disease, Type 2m 29 6
Cmt2m 59 74
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 59
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m 74
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B 74
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B 40
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B 57
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m 59
Charcot-Marie-Tooth Neuropathy Axonal Type 2m 74
Charcot-Marie-Tooth Disease, Axonal, Type 2m 13
Charcot-Marie-Tooth Disease, Axonal Type 2m 57
Charcot-Marie-Tooth Disease Axonal Type 2m 74
Charcot-Marie-Tooth Disease 2m 74

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 autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110197
MeSH 44 D002607
ICD10 33 G60.0
ICD10 via Orphanet 34 G60.0
UMLS via Orphanet 73 C1847902
UMLS 72 C1847902

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

UniProtKB/Swiss-Prot : 74 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 areflexia

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 D
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, Dominant Intermediate E
Charcot-Marie-Tooth Disease, Dominant Intermediate F Charcot-Marie-Tooth Disease, Type 4b3
Charcot-Marie-Tooth Disease, Recessive Intermediate C Charcot-Marie-Tooth Disease, Recessive Intermediate D
Charcot-Marie-Tooth Disease, Type 4k Charcot-Marie-Tooth Disease, Dominant Intermediate G
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 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 11)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, dominant intermediate a 32.0 PLEK DNM2
2 dnm2-related intermediate charcot-marie-tooth neuropathy 31.9 MIR6793 MIR638 DNM2
3 autosomal dominant intermediate charcot-marie-tooth disease type b 11.8
4 charcot-marie-tooth disease, dominant intermediate c 10.0 PLEK DNM2
5 myopathy, centronuclear, x-linked 9.7 MTM1 DNM2
6 brachial plexus neuritis 9.7 MTM1 DNM2
7 centronuclear myopathy 9.6 MTM1 DNM2
8 myopathy, congenital 9.6 MTM1 DNM2
9 peripheral nervous system disease 9.5 MTM1 DNM2
10 ptosis 9.4 MTM1 DNM2
11 muscular disease 9.3 MTM1 DNM2

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:

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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
axonal degeneration
distal limb muscle weakness due to peripheral neuropathy
more
Skeletal Feet:
pes cavus

Clinical features from OMIM:

606482

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 29 DNM2
2 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

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

(show all 13)
# Title Authors PMID Year
1
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 8 71
19502294 2009
2
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 8 71
18560793 2008
3
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 8 71
17636067 2007
4
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 8 71
15731758 2005
5
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 8
28364294 2017
6
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy 71
20614582 2010
7
Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. 8
12761657 2003
8
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. 8
12481986 2002
9
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. 8
11533912 2001
10
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 71
20301532 1998
11
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. 8
752065 1978
12
Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation. 8
4855423 1974
13
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. 38
26842864 2016

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

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

6 (show top 50) (show all 166)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
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 19:10904509-10904509 19:10793833-10793833
3 DNM2 NM_001005360.2(DNM2): c.1105C> T (p.Arg369Trp) single nucleotide variant Pathogenic rs121909090 19:10904508-10904508 19:10793832-10793832
4 DNM2 NM_001005360.2(DNM2): c.1393C> T (p.Arg465Trp) single nucleotide variant Pathogenic rs121909091 19:10909219-10909219 19:10798543-10798543
5 DNM2 NM_001005360.2(DNM2): c.1102G> A (p.Glu368Lys) single nucleotide variant Pathogenic rs121909092 19:10904505-10904505 19:10793829-10793829
6 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 19:10922947-10922947 19:10812271-10812271
7 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121909095 19:10934538-10934538 19:10823862-10823862
8 DNM2 NM_001005360.2(DNM2): c.1072G> A (p.Gly358Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606772 19:10904475-10904475 19:10793799-10793799
9 DNM2 NM_001005360.2(DNM2): c.1853C> A (p.Ala618Asp) single nucleotide variant Likely pathogenic rs1555715869 19:10934535-10934535 19:10823859-10823859
10 DNM2 NM_001005360.2(DNM2): c.1463C> G (p.Thr488Arg) single nucleotide variant Likely pathogenic 19:10913004-10913004 19:10802328-10802328
11 DNM2 NM_001005360.2(DNM2): c.1021G> A (p.Glu341Lys) single nucleotide variant Likely pathogenic rs864309705 19:10904424-10904424 19:10793748-10793748
12 DNM2 NM_001005360.2(DNM2): c.1609G> A (p.Gly537Ser) single nucleotide variant Likely pathogenic rs121909093 19:10922991-10922991 19:10812315-10812315
13 DNM2 NM_001005360.2(DNM2): c.316G> A (p.Asp106Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs375151459 19:10883235-10883235 19:10772559-10772559
14 DNM2 NM_001005360.2(DNM2): c.528C> T (p.Pro176=) single nucleotide variant Conflicting interpretations of pathogenicity rs147579870 19:10886521-10886521 19:10775845-10775845
15 DNM2 NM_001005360.2(DNM2): c.1384A> G (p.Thr462Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs201575500 19:10909210-10909210 19:10798534-10798534
16 DNM2 NM_001005360.2(DNM2): c.1773G> A (p.Thr591=) single nucleotide variant Conflicting interpretations of pathogenicity rs201604679 19:10930757-10930757 19:10820081-10820081
17 DNM2 NM_001005360.2(DNM2): c.633C> T (p.Asp211=) single nucleotide variant Conflicting interpretations of pathogenicity rs200191870 19:10887837-10887837 19:10777161-10777161
18 DNM2 NM_001005360.2(DNM2): c.1782-7C> A single nucleotide variant Conflicting interpretations of pathogenicity rs200843089 19:10934457-10934457 19:10823781-10823781
19 DNM2 NM_001005360.2(DNM2): c.1782-4G> C single nucleotide variant Conflicting interpretations of pathogenicity rs767424969 19:10934460-10934460 19:10823784-10823784
20 DNM2 NM_001005360.2(DNM2): c.190G> A (p.Val64Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs144250390 19:10870442-10870442 19:10759766-10759766
21 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 19:10893769-10893769 19:10783093-10783093
22 DNM2 NM_001005360.2(DNM2): c.958G> A (p.Asp320Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs150613209 19:10897348-10897348 19:10786672-10786672
23 DNM2 NM_001005360.2(DNM2): c.216G> A (p.Gln72=) single nucleotide variant Conflicting interpretations of pathogenicity rs368075301 19:10870468-10870468 19:10759792-10759792
24 DNM2 NM_001005360.2(DNM2): c.1609G> T (p.Gly537Cys) single nucleotide variant Conflicting interpretations of pathogenicity rs121909093 19:10922991-10922991 19:10812315-10812315
25 DNM2 NM_001005360.2(DNM2): c.1709T> A (p.Leu570His) single nucleotide variant Conflicting interpretations of pathogenicity rs121909094 19:10930693-10930693 19:10820017-10820017
26 DNM2 NM_001005360.2(DNM2): c.177C> A (p.Arg59=) single nucleotide variant Uncertain significance rs762795230 19:10870429-10870429 19:10759753-10759753
27 DNM2 NM_001005360.2(DNM2): c.1718G> A (p.Arg573His) single nucleotide variant Uncertain significance rs1555715216 19:10930702-10930702 19:10820026-10820026
28 DNM2 NM_001005360.2(DNM2): c.2497T> C (p.Ser833Pro) single nucleotide variant Uncertain significance rs1253864930 19:10941008-10941008 19:10830332-10830332
29 DNM2 NM_001005360.2(DNM2): c.161+3G> A single nucleotide variant Uncertain significance rs1555696272 19:10829082-10829082 19:10718406-10718406
30 DNM2 NM_001005360.2(DNM2): c.889C> T (p.Arg297Cys) single nucleotide variant Uncertain significance rs760254039 19:10897279-10897279 19:10786603-10786603
31 DNM2 NM_001005360.2(DNM2): c.1304T> G (p.Leu435Arg) single nucleotide variant Uncertain significance rs1555710681 19:10906844-10906844 19:10796168-10796168
32 DNM2 NM_001005360.2(DNM2): c.1552A> G (p.Ile518Val) single nucleotide variant Uncertain significance rs753402698 19:10919251-10919251 19:10808575-10808575
33 DNM2 NM_001005360.2(DNM2): c.2023A> G (p.Met675Val) single nucleotide variant Uncertain significance rs1555716140 19:10935862-10935862 19:10825186-10825186
34 DNM2 NM_001005360.2(DNM2): c.83A> T (p.His28Leu) single nucleotide variant Uncertain significance rs774962668 19:10829001-10829001 19:10718325-10718325
35 DNM2 NM_001005360.2(DNM2): c.821C> T (p.Thr274Met) single nucleotide variant Uncertain significance rs746387165 19:10893768-10893768 19:10783092-10783092
36 DNM2 NM_001005360.2(DNM2): c.868C> T (p.Arg290Trp) single nucleotide variant Uncertain significance rs587778235 19:10897258-10897258 19:10786582-10786582
37 DNM2 NM_001005360.2(DNM2): c.481C> A (p.Leu161Met) single nucleotide variant Uncertain significance rs1060503547 19:10886474-10886474 19:10775798-10775798
38 DNM2 NM_001005360.2(DNM2): c.699C> T (p.Gly233=) single nucleotide variant Uncertain significance rs751844947 19:10893646-10893646 19:10782970-10782970
39 DNM2 NM_001005360.2(DNM2): c.934G> A (p.Glu312Lys) single nucleotide variant Uncertain significance rs370636702 19:10897324-10897324 19:10786648-10786648
40 DNM2 NM_001005360.2(DNM2): c.8A> G (p.Asn3Ser) single nucleotide variant Uncertain significance rs890297188 19:10828926-10828926 19:10718250-10718250
41 DNM2 NM_001005360.2(DNM2): c.850-7C> G single nucleotide variant Uncertain significance rs778548382 19:10897233-10897233 19:10786557-10786557
42 DNM2 NM_001005360.2(DNM2): c.2452G> A (p.Val818Met) single nucleotide variant Uncertain significance rs755608537 19:10940963-10940963 19:10830287-10830287
43 DNM2 NM_001005360.2(DNM2): c.1526A> G (p.Lys509Arg) single nucleotide variant Uncertain significance rs1555712608 19:10916624-10916624 19:10805948-10805948
44 DNM2 NM_001005360.2(DNM2): c.2231T> C (p.Val744Ala) single nucleotide variant Uncertain significance rs777609224 19:10939884-10939884 19:10829208-10829208
45 DNM2 NM_001005360.2(DNM2): c.689-3C> T single nucleotide variant Uncertain significance rs373330742 19:10893633-10893633 19:10782957-10782957
46 DNM2 NM_001005360.2(DNM2): c.700G> C (p.Val234Leu) single nucleotide variant Uncertain significance rs377159042 19:10893647-10893647 19:10782971-10782971
47 DNM2 NM_001005360.2(DNM2): c.2356G> T (p.Gly786Cys) single nucleotide variant Uncertain significance rs1555717200 19:10940867-10940867 19:10830191-10830191
48 DNM2 NM_001005360.2(DNM2): c.2531C> T (p.Pro844Leu) single nucleotide variant Uncertain significance rs1398139585 19:10941042-10941042 19:10830366-10830366
49 DNM2 NM_001005360.2(DNM2): c.1456A> G (p.Ile486Val) single nucleotide variant Uncertain significance rs758246840 19:10912997-10912997 19:10802321-10802321
50 DNM2 NM_001005360.2(DNM2): c.695T> A (p.Ile232Asn) single nucleotide variant Uncertain significance rs749672066 19:10893642-10893642 19:10782966-10782966

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

74
# 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

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 PLEK DNM2

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

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