MCID: DNM001
MIFTS: 10

Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Categories: Neuronal diseases

Aliases & Classifications for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

MalaCards integrated aliases for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy:

Name: Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 24 29 6
Dominant Intermediate Charcot-Marie-Tooth Neuropathy Type B 24
Charcot-Marie-Tooth Disease, Dominant Intermediate B 73
Di-Cmtb 24

Characteristics:

GeneReviews:

24
Penetrance Dnm2 pathogenic variants are penetrant over a wide range of ages (age 2-50 years) [claeys et al 2009, haberlová et al 2011]...

Classifications:



External Ids:

UMLS 73 C1847902

Summaries for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

MalaCards based summary : Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy, also known as dominant intermediate charcot-marie-tooth neuropathy type b, is related to autosomal dominant intermediate charcot-marie-tooth disease type b and charcot-marie-tooth disease, dominant intermediate b. An important gene associated with Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy is DNM2 (Dynamin 2).

GeneReviews: NBK45014

Related Diseases for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Diseases in the Charcot-Marie-Tooth Hereditary Neuropathy family:

Charcot-Marie-Tooth Neuropathy Type 1 Charcot-Marie-Tooth Neuropathy Type 2a
Charcot-Marie-Tooth Neuropathy Type 2e/1f Charcot-Marie-Tooth Neuropathy Type 4j
Charcot-Marie-Tooth Neuropathy X Type 1 Charcot-Marie-Tooth Neuropathy X Type 5
Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Diseases related to Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 autosomal dominant intermediate charcot-marie-tooth disease type b 11.9
2 charcot-marie-tooth disease, dominant intermediate b 11.5
3 neuropathy 10.4

Symptoms & Phenotypes for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Drugs & Therapeutics for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Search Clinical Trials , NIH Clinical Center for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Genetic Tests for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Genetic tests related to Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy:

# Genetic test Affiliating Genes
1 Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy 29 DNM2

Anatomical Context for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Publications for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Articles related to Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy:

# Title Authors Year
1
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy ( 20614582 )
1993

Variations for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

ClinVar genetic disease variations for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy:

6
(show top 50) (show all 171)
# 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.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh37 Chromosome 19, 10934538: 10934538
9 DNM2 NM_001005360.2(DNM2): c.1856C> T (p.Ser619Leu) single nucleotide variant Pathogenic rs121909095 GRCh38 Chromosome 19, 10823862: 10823862
10 DNM2 NM_001190716.1(DNM2): c.1072G> A (p.Gly358Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606772 GRCh37 Chromosome 19, 10904475: 10904475
11 DNM2 NM_001190716.1(DNM2): c.1072G> A (p.Gly358Arg) single nucleotide variant Pathogenic/Likely pathogenic rs267606772 GRCh38 Chromosome 19, 10793799: 10793799
12 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh37 Chromosome 19, 10870493: 10870493
13 DNM2 NM_001005360.2(DNM2): c.235+6A> G single nucleotide variant Benign/Likely benign rs113192269 GRCh38 Chromosome 19, 10759817: 10759817
14 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh37 Chromosome 19, 10893769: 10893769
15 DNM2 NM_001005360.2(DNM2): c.822G> A (p.Thr274=) single nucleotide variant Conflicting interpretations of pathogenicity rs201763720 GRCh38 Chromosome 19, 10783093: 10783093
16 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh37 Chromosome 19, 10922947: 10922947
17 DNM2 NM_001005360.2(DNM2): c.1565G> A (p.Arg522His) single nucleotide variant Pathogenic rs587783595 GRCh38 Chromosome 19, 10812271: 10812271
18 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh37 Chromosome 19, 10935741: 10935741
19 DNM2 NM_001005360.2(DNM2): c.1902C> T (p.Asn634=) single nucleotide variant Benign/Likely benign rs2229919 GRCh38 Chromosome 19, 10825065: 10825065
20 DNM2 NM_001005360.2(DNM2): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs114682382 GRCh37 Chromosome 19, 10940995: 10940995
21 DNM2 NM_001005360.2(DNM2): c.2484G> A (p.Pro828=) single nucleotide variant Benign rs114682382 GRCh38 Chromosome 19, 10830319: 10830319
22 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh37 Chromosome 19, 10941061: 10941061
23 DNM2 NM_001005360.2(DNM2): c.2543+7C> G single nucleotide variant Benign/Likely benign rs201979143 GRCh38 Chromosome 19, 10830385: 10830385
24 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh37 Chromosome 19, 10870407: 10870407
25 DNM2 NM_001005360.2(DNM2): c.162-7C> A single nucleotide variant Benign/Likely benign rs148318860 GRCh38 Chromosome 19, 10759731: 10759731
26 DNM2 NM_001005360.2(DNM2): c.216G> A (p.Gln72=) single nucleotide variant Conflicting interpretations of pathogenicity rs368075301 GRCh37 Chromosome 19, 10870468: 10870468
27 DNM2 NM_001005360.2(DNM2): c.216G> A (p.Gln72=) single nucleotide variant Conflicting interpretations of pathogenicity rs368075301 GRCh38 Chromosome 19, 10759792: 10759792
28 DNM2 NM_001005360.2(DNM2): c.90C> T (p.Asp30=) single nucleotide variant Likely benign rs759919549 GRCh38 Chromosome 19, 10718332: 10718332
29 DNM2 NM_001005360.2(DNM2): c.90C> T (p.Asp30=) single nucleotide variant Likely benign rs759919549 GRCh37 Chromosome 19, 10829008: 10829008
30 DNM2 NM_001005360.2(DNM2): c.2592C> T (p.Ala864=) single nucleotide variant Likely benign rs373161548 GRCh38 Chromosome 19, 10831026: 10831026
31 DNM2 NM_001005360.2(DNM2): c.2592C> T (p.Ala864=) single nucleotide variant Likely benign rs373161548 GRCh37 Chromosome 19, 10941702: 10941702
32 DNM2 NM_001190716.1(DNM2): c.1021G> A (p.Glu341Lys) single nucleotide variant Likely pathogenic rs864309705 GRCh38 Chromosome 19, 10793748: 10793748
33 DNM2 NM_001190716.1(DNM2): c.1021G> A (p.Glu341Lys) single nucleotide variant Likely pathogenic rs864309705 GRCh37 Chromosome 19, 10904424: 10904424
34 DNM2 NM_001005360.2(DNM2): c.555C> T (p.Asp185=) single nucleotide variant Likely benign rs140788791 GRCh38 Chromosome 19, 10775872: 10775872
35 DNM2 NM_001005360.2(DNM2): c.555C> T (p.Asp185=) single nucleotide variant Likely benign rs140788791 GRCh37 Chromosome 19, 10886548: 10886548
36 DNM2 NM_001005360.2(DNM2): c.210T> C (p.Ile70=) single nucleotide variant Likely benign rs878854149 GRCh38 Chromosome 19, 10759786: 10759786
37 DNM2 NM_001005360.2(DNM2): c.210T> C (p.Ile70=) single nucleotide variant Likely benign rs878854149 GRCh37 Chromosome 19, 10870462: 10870462
38 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh38 Chromosome 19, 10829137: 10829137
39 DNM2 NM_001005360.2(DNM2): c.2160C> T (p.Asp720=) single nucleotide variant Benign/Likely benign rs117598326 GRCh37 Chromosome 19, 10939813: 10939813
40 DNM2 NM_001005360.2(DNM2): c.316G> A (p.Asp106Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs375151459 GRCh38 Chromosome 19, 10772559: 10772559
41 DNM2 NM_001005360.2(DNM2): c.316G> A (p.Asp106Asn) single nucleotide variant Conflicting interpretations of pathogenicity rs375151459 GRCh37 Chromosome 19, 10883235: 10883235
42 DNM2 NM_001005360.2(DNM2): c.839C> T (p.Thr280Met) single nucleotide variant Uncertain significance rs202155679 GRCh38 Chromosome 19, 10783110: 10783110
43 DNM2 NM_001005360.2(DNM2): c.839C> T (p.Thr280Met) single nucleotide variant Uncertain significance rs202155679 GRCh37 Chromosome 19, 10893786: 10893786
44 DNM2 NM_001005360.2(DNM2): c.1609G> A (p.Gly537Ser) single nucleotide variant Likely pathogenic rs121909093 GRCh38 Chromosome 19, 10812315: 10812315
45 DNM2 NM_001005360.2(DNM2): c.1609G> A (p.Gly537Ser) single nucleotide variant Likely pathogenic rs121909093 GRCh37 Chromosome 19, 10922991: 10922991
46 DNM2 NM_001005360.2(DNM2): c.1969C> T (p.Arg657Cys) single nucleotide variant Uncertain significance rs772920450 GRCh38 Chromosome 19, 10825132: 10825132
47 DNM2 NM_001005360.2(DNM2): c.1969C> T (p.Arg657Cys) single nucleotide variant Uncertain significance rs772920450 GRCh37 Chromosome 19, 10935808: 10935808
48 DNM2 NM_001005360.2(DNM2): c.236-8C> G single nucleotide variant Benign/Likely benign rs143084059 GRCh37 Chromosome 19, 10883147: 10883147
49 DNM2 NM_001005360.2(DNM2): c.236-8C> G single nucleotide variant Benign/Likely benign rs143084059 GRCh38 Chromosome 19, 10772471: 10772471
50 DNM2 NM_001005360.2(DNM2): c.519T> C (p.Ala173=) single nucleotide variant Benign/Likely benign rs77702567 GRCh38 Chromosome 19, 10775836: 10775836

Expression for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Search GEO for disease gene expression data for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy.

Pathways for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

GO Terms for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

Sources for Dnm2-Related Intermediate Charcot-Marie-Tooth Neuropathy

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