CMTDIB
MCID: CHR422
MIFTS: 47

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 56 29 6 71
Cmtdib 56 12 58 73
Di-Cmtb 56 12 73
Cmtdi1 56 12 73
Charcot-Marie-Tooth Neuropathy Dominant Intermediate B 12 73
Charcot-Marie-Tooth Disease Dominant Intermediate B 12 15
Charcot-Marie-Tooth Disease, Type 2m 29 6
Cmt2m 58 73
Autosomal Dominant Intermediate Charcot-Marie-Tooth Disease Type B 58
Charcot-Marie-Tooth Disease Axonal Autosomal Dominant Type 2m 73
Charcot-Marie-Tooth Disease, Dominant, Intermediate Type, B 73
Charcot-Marie-Tooth Disease, Dominant Intermediate, Type B 39
Charcot-Marie-Tooth Neuropathy, Dominant Intermediate B 56
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2m 58
Charcot-Marie-Tooth Neuropathy Axonal Type 2m 73
Charcot-Marie-Tooth Disease, Axonal, Type 2m 13
Charcot-Marie-Tooth Disease, Axonal Type 2m 56
Charcot-Marie-Tooth Disease Axonal Type 2m 73
Charcot-Marie-Tooth Disease 2m 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant charcot-marie-tooth disease type 2m
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

56
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:

31
charcot-marie-tooth disease, dominant intermediate b:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0110197
OMIM 56 606482
OMIM Phenotypic Series 56 PS118220
MeSH 43 D002607
ICD10 32 G60.0
ICD10 via Orphanet 33 G60.0
UMLS via Orphanet 72 C1847902
UMLS 71 C1847902

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

UniProtKB/Swiss-Prot : 73 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, axonal, type 2p and charcot-marie-tooth disease, dominant intermediate a. An important gene associated with Charcot-Marie-Tooth Disease, Dominant Intermediate B is DNM2 (Dynamin 2), and among its related pathways/superpathways are Vesicle-mediated transport and MHC class II antigen presentation. 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 : 56 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 2a2a Charcot-Marie-Tooth Disease Type 2a2b
Charcot-Marie-Tooth Disease Type 1g Autosomal Dominant Intermediate Charcot-Marie-Tooth
Autosomal Recessive Intermediate Charcot-Marie-Tooth Disease Charcot-Marie-Tooth Disease Type 2a
Charcot-Marie-Tooth Disease Type 2l 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 top 50) (show all 76)
# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, axonal, type 2p 31.7 LITAF GDAP1
2 charcot-marie-tooth disease, dominant intermediate a 31.2 YARS1 MPZ GJB1 GDAP1 DNM2
3 peliosis hepatis 10.3 MTM1 DNM2
4 genetic motor neuron disease 10.3 SH3TC2 MPZ
5 argyll robertson pupil 10.2 MPZ GDAP1
6 pupil disease 10.2 MPZ GDAP1
7 central core myopathy 10.2 MTM1 DNM2
8 abnormal pupillary function 10.2 MPZ GDAP1
9 charcot-marie-tooth disease, axonal, type 2a1 10.2 MPZ GDAP1
10 early-onset glaucoma 10.2 SBF2 MTMR2 MTM1
11 neuropathy, hereditary motor and sensory, russe type 10.1 SH3TC2 GDAP1
12 charcot-marie-tooth disease, axonal, type 2n 10.1 YARS1 GDAP1
13 mononeuropathy 10.1 SH3TC2 MPZ
14 charcot-marie-tooth disease, axonal, type 2b2 10.1 MPZ GDAP1 DNM2
15 autoimmune peripheral neuropathy 10.1 MPZ GJB1
16 charcot-marie-tooth disease x-linked recessive 4 10.1 MPZ GJB1
17 nerve compression syndrome 10.1 SH3TC2 MPZ
18 yunis-varon syndrome 10.1 SBF2 MTMR2 GDAP1
19 charcot-marie-tooth disease, axonal, type 2t 10.0 SH3TC2 SBF2 GDAP1
20 myopathy, centronuclear, x-linked 10.0 SBF2 MTMR2 MTM1 DNM2
21 neuropathy, hereditary sensory and autonomic, type ic 10.0 SH3TC2 LITAF
22 charcot-marie-tooth disease, type 4k 10.0 SH3TC2 LITAF
23 peripheral demyelinating neuropathy, central dysmyelination, waardenburg syndrome, and hirschsprung disease 10.0 MPZ GJB1
24 hereditary neuropathies 9.9 MTMR2 MPZ GJB1
25 nemaline myopathy 5 9.9 MTM1 DNM1
26 charcot-marie-tooth disease, dominant intermediate d 9.9 YARS1 SH3TC2 MPZ DNM2
27 charcot-marie-tooth disease, axonal, type 2w 9.9 MPZ GJB1 GDAP1
28 corneal dystrophy, fleck 9.8 SBF2 MTMR2
29 neuropathy, hereditary sensory and autonomic, type i, with cough and gastroesophageal reflux 9.7 RAB7B RAB7A
30 charcot-marie-tooth disease, x-linked recessive, 2 9.7 MPZ LITAF GJB1
31 charcot-marie-tooth disease, axonal, type 2j 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1
32 motor peripheral neuropathy 9.6 SH3TC2 LITAF GJB1
33 charcot-marie-tooth disease, type 4h 9.6 SH3TC2 SBF2 MTMR2 MPZ GDAP1
34 leukodystrophy, hypomyelinating, 12 9.6 RAB7B RAB7A
35 autosomal dominant distal hereditary motor neuronopathy 9.6 YARS1 SH3TC2 MPZ LITAF
36 cataract 8, multiple types 9.6 RAB7B RAB7A DNM2
37 charcot-marie-tooth disease, dominant intermediate e 9.5 SH3TC2 SBF2 MTMR2 MPZ GDAP1 DNM2
38 charcot-marie-tooth disease, dominant intermediate c 9.5 YARS1 MPZ GJB1 GDAP1 DNM2
39 vici syndrome 9.5 RAB7B RAB7A
40 charcot-marie-tooth disease, type 4b3 9.5 SH3TC2 SBF2 MTMR2 MTM1 MPZ GDAP1
41 charcot-marie-tooth disease, axonal, type 2d 9.4 YARS1 SH3TC2 MPZ GJB1 GDAP1
42 neuropathy, hereditary sensory and autonomic, type iia 9.4 SH3TC2 RAB7B LITAF GDAP1
43 centronuclear myopathy 9.4 SBF2 PLEK MTMR2 MTM1 DNM2 DNM1
44 charcot-marie-tooth disease, axonal, type 2i 9.3 SH3TC2 RAB7B MPZ GJB1 GDAP1
45 charcot-marie-tooth disease, axonal, type 2l 9.3 RAB7B RAB7A MPZ GDAP1
46 charcot-marie-tooth disease, demyelinating, type 1d 9.2 MTMR2 MPZ LITAF GJB1 GDAP1
47 charcot-marie-tooth disease type x 9.2 SH3TC2 MPZ LITAF GJB1 GDAP1
48 polyneuropathy 9.2 SH3TC2 MPZ LITAF GJB1 GDAP1
49 charcot-marie-tooth disease, demyelinating, type 1f 9.0 SBF2 MTMR2 MPZ LITAF GJB1 GDAP1
50 charcot-marie-tooth disease, x-linked dominant, 1 9.0 SH3TC2 MTMR2 MPZ LITAF GJB1 GDAP1

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:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 segmental peripheral demyelination 31 occasional (7.5%) HP:0007107
2 areflexia 31 HP:0001284
3 pes cavus 31 HP:0001761
4 hyporeflexia 31 HP:0001265
5 distal amyotrophy 31 HP:0003693
6 distal muscle weakness 31 HP:0002460
7 distal sensory impairment 31 HP:0002936
8 decreased number of peripheral myelinated nerve fibers 31 HP:0003380
9 segmental peripheral demyelination/remyelination 31 HP:0003481
10 onion bulb formation 31 HP:0003383
11 axonal degeneration 31 HP:0040078
12 peripheral axonal degeneration 31 HP:0000764

Symptoms via clinical synopsis from OMIM:

56
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

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 9.28 DNM1 DNM2 GDAP1 GJB1 LITAF MPZ

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 14)
# Title Authors PMID Year
1
Phenotypic spectrum of dynamin 2 mutations in Charcot-Marie-Tooth neuropathy. 56 6
19502294 2009
2
Magnetic resonance imaging findings of leg musculature in Charcot-Marie-Tooth disease type 2 due to dynamin 2 mutation. 6 56
18560793 2008
3
Two novel mutations in dynamin-2 cause axonal Charcot-Marie-Tooth disease. 6 56
17636067 2007
4
Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease. 6 56
15731758 2005
5
Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review. 56
28364294 2017
6
DNM2-Related Intermediate Charcot-Marie-Tooth Neuropathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20614582 2010
7
Refined localization of dominant intermediate Charcot-Marie-Tooth neuropathy and exclusion of seven known candidate genes in the region. 56
12761657 2003
8
Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot-Marie-Tooth neuropathy to D19S586 to D19S432. 56
12481986 2002
9
Dominant intermediate Charcot-Marie-Tooth neuropathy maps to chromosome 19p12-p13.2. 56
11533912 2001
10
Charcot-Marie-Tooth (CMT) Hereditary Neuropathy Overview 6
20301532 1998
11
The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. 56
752065 1978
12
Wide spectrum of motor conduction velocity in Charcot-Marie-Tooth disease. An anatomico-physiological interpretation. 56
4855423 1974
13
Mice carrying an analogous heterozygous dynamin 2 K562E mutation that causes neuropathy in humans develop predominant characteristics of a primary myopathy. 61
32129442 2020
14
Zebrafish as a Model to Investigate Dynamin 2-Related Diseases. 61
26842864 2016

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

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

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DNM2 NM_001005360.2(DNM2):c.1853C>A (p.Ala618Asp)SNV Pathogenic 465283 rs1555715869 19:10934535-10934535 19:10823859-10823859
2 DNM2 DNM2, 9-BP DEL, NT1652deletion Pathogenic 7276
3 DNM2 NM_001005360.2(DNM2):c.1106G>A (p.Arg369Gln)SNV Pathogenic 7279 rs121909089 19:10904509-10904509 19:10793833-10793833
4 DNM2 NM_001005360.2(DNM2):c.1105C>T (p.Arg369Trp)SNV Pathogenic 7280 rs121909090 19:10904508-10904508 19:10793832-10793832
5 DNM2 NM_001005360.2(DNM2):c.1393C>T (p.Arg465Trp)SNV Pathogenic 7281 rs121909091 19:10909219-10909219 19:10798543-10798543
6 DNM2 NM_001005360.2(DNM2):c.1102G>A (p.Glu368Lys)SNV Pathogenic 7282 rs121909092 19:10904505-10904505 19:10793829-10793829
7 DNM2 NM_001005360.2(DNM2):c.1565G>A (p.Arg522His)SNV Pathogenic 158514 rs587783595 19:10922947-10922947 19:10812271-10812271
8 DNM2 NM_004945.3(DNM2):c.1597G>A (p.Gly533Ser)SNV Pathogenic/Likely pathogenic 246295 rs121909093 19:10922991-10922991 19:10812315-10812315
9 DNM2 NM_001005360.2(DNM2):c.1856C>T (p.Ser619Leu)SNV Pathogenic/Likely pathogenic 7285 rs121909095 19:10934538-10934538 19:10823862-10823862
10 DNM2 NM_001190716.2(DNM2):c.1072G>A (p.Gly358Arg)SNV Pathogenic/Likely pathogenic 7287 rs267606772 19:10904475-10904475 19:10793799-10793799
11 DNM2 NM_001190716.2(DNM2):c.1021G>A (p.Glu341Lys)SNV Likely pathogenic 218920 rs864309705 19:10904424-10904424 19:10793748-10793748
12 DNM2 NM_001005360.2(DNM2):c.1463C>G (p.Thr488Arg)SNV Likely pathogenic 580216 rs746903992 19:10913004-10913004 19:10802328-10802328
13 DNM2 NM_001005361.3(DNM2):c.1965C>T (p.Thr655=)SNV Conflicting interpretations of pathogenicity 700520 19:10935804-10935804 19:10825128-10825128
14 DNM2 NM_001005360.2(DNM2):c.2201A>G (p.Asn734Ser)SNV Conflicting interpretations of pathogenicity 447273 rs577767034 19:10939854-10939854 19:10829178-10829178
15 DNM2 NM_001005360.2(DNM2):c.2231T>C (p.Val744Ala)SNV Conflicting interpretations of pathogenicity 465284 rs777609224 19:10939884-10939884 19:10829208-10829208
16 DNM2 NM_001005360.2(DNM2):c.645C>T (p.Asp215=)SNV Conflicting interpretations of pathogenicity 498594 rs148900299 19:10887849-10887849 19:10777173-10777173
17 DNM2 NM_001005360.2(DNM2):c.497G>A (p.Arg166Gln)SNV Conflicting interpretations of pathogenicity 664504 19:10886490-10886490 19:10775814-10775814
18 DNM2 NM_001005360.2(DNM2):c.316G>A (p.Asp106Asn)SNV Conflicting interpretations of pathogenicity 246522 rs375151459 19:10883235-10883235 19:10772559-10772559
19 DNM2 NM_001005360.2(DNM2):c.839C>T (p.Thr280Met)SNV Conflicting interpretations of pathogenicity 246310 rs202155679 19:10893786-10893786 19:10783110-10783110
20 DNM2 NM_001005360.2(DNM2):c.890G>A (p.Arg297His)SNV Conflicting interpretations of pathogenicity 327977 rs763894364 19:10897280-10897280 19:10786604-10786604
21 DNM2 NM_001005360.2(DNM2):c.1384A>G (p.Thr462Ala)SNV Conflicting interpretations of pathogenicity 327980 rs201575500 19:10909210-10909210 19:10798534-10798534
22 DNM2 NM_001005360.2(DNM2):c.2592C>T (p.Ala864=)SNV Conflicting interpretations of pathogenicity 215775 rs373161548 19:10941702-10941702 19:10831026-10831026
23 DNM2 NM_001005360.2(DNM2):c.235+12C>ASNV Conflicting interpretations of pathogenicity 158524 rs147026993 19:10870499-10870499 19:10759823-10759823
24 DNM2 NM_001005360.2(DNM2):c.822G>A (p.Thr274=)SNV Conflicting interpretations of pathogenicity 158528 rs201763720 19:10893769-10893769 19:10783093-10783093
25 DNM2 NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn)SNV Conflicting interpretations of pathogenicity 158529 rs150613209 19:10897348-10897348 19:10786672-10786672
26 DNM2 NM_001005360.2(DNM2):c.190G>A (p.Val64Ile)SNV Conflicting interpretations of pathogenicity 133978 rs144250390 19:10870442-10870442 19:10759766-10759766
27 DNM2 NM_004945.3(DNM2):c.1597G>T (p.Gly533Cys)SNV Conflicting interpretations of pathogenicity 7283 rs121909093 19:10922991-10922991 19:10812315-10812315
28 DNM2 NM_004945.3(DNM2):c.1697T>A (p.Leu566His)SNV Conflicting interpretations of pathogenicity 7284 rs121909094 19:10930693-10930693 19:10820017-10820017
29 DNM2 NM_001005361.3(DNM2):c.1782-6C>TSNV Conflicting interpretations of pathogenicity 767138 19:10934458-10934458 19:10823782-10823782
30 DNM2 NM_001005361.3(DNM2):c.625C>T (p.Leu209=)SNV Conflicting interpretations of pathogenicity 702869 19:10887829-10887829 19:10777153-10777153
31 DNM2 NM_001005360.2(DNM2):c.162-9C>ASNV Conflicting interpretations of pathogenicity 327973 rs200736669 19:10870405-10870405 19:10759729-10759729
32 DNM2 NM_001005360.2(DNM2):c.2418G>A (p.Ala806=)SNV Conflicting interpretations of pathogenicity 327989 rs200968756 19:10940929-10940929 19:10830253-10830253
33 DNM2 NM_001005360.2(DNM2):c.2179C>T (p.His727Tyr)SNV Conflicting interpretations of pathogenicity 327987 rs142963320 19:10939832-10939832 19:10829156-10829156
34 DNM2 NM_001005360.2(DNM2):c.1773G>A (p.Thr591=)SNV Conflicting interpretations of pathogenicity 327984 rs201604679 19:10930757-10930757 19:10820081-10820081
35 DNM2 NM_001005360.2(DNM2):c.633C>T (p.Asp211=)SNV Conflicting interpretations of pathogenicity 327976 rs200191870 19:10887837-10887837 19:10777161-10777161
36 DNM2 NM_001005360.2(DNM2):c.2031G>A (p.Lys677=)SNV Conflicting interpretations of pathogenicity 327985 rs768285660 19:10935870-10935870 19:10825194-10825194
37 DNM2 NM_001005360.2(DNM2):c.1782-7C>ASNV Conflicting interpretations of pathogenicity 379457 rs200843089 19:10934457-10934457 19:10823781-10823781
38 DNM2 NM_001005360.2(DNM2):c.2560G>T (p.Ala854Ser)SNV Uncertain significance 327991 rs886054141 19:10941670-10941670 19:10830994-10830994
39 DNM2 NM_001005360.2(DNM2):c.*82C>TSNV Uncertain significance 328001 rs569502521 19:10941805-10941805 19:10831129-10831129
40 DNM2 NM_001005360.2(DNM2):c.*106T>CSNV Uncertain significance 328003 rs886054144 19:10941829-10941829 19:10831153-10831153
41 DNM2 NM_001005360.2(DNM2):c.*166G>ASNV Uncertain significance 328004 rs886054145 19:10941889-10941889 19:10831213-10831213
42 DNM2 NM_001005360.2(DNM2):c.1456A>G (p.Ile486Val)SNV Uncertain significance 374611 rs758246840 19:10912997-10912997 19:10802321-10802321
43 DNM2 NM_001005360.2(DNM2):c.*79G>ASNV Uncertain significance 328000 rs550692861 19:10941802-10941802 19:10831126-10831126
44 DNM2 NM_001005360.2(DNM2):c.*391C>TSNV Uncertain significance 328009 rs886054147 19:10942114-10942114 19:10831438-10831438
45 DNM2 NM_001005360.2(DNM2):c.*711T>CSNV Uncertain significance 328014 rs886054149 19:10942434-10942434 19:10831758-10831758
46 DNM2 NM_001005360.2(DNM2):c.-122G>ASNV Uncertain significance 327971 rs886054139 19:10828797-10828797 19:10718121-10718121
47 DNM2 NM_001005360.2(DNM2):c.-19G>TSNV Uncertain significance 327972 rs753599004 19:10828900-10828900 19:10718224-10718224
48 DNM2 NM_001005360.2(DNM2):c.*88C>GSNV Uncertain significance 328002 rs886054143 19:10941811-10941811 19:10831135-10831135
49 DNM2 NM_001005360.2(DNM2):c.*550G>ASNV Uncertain significance 328011 rs886054148 19:10942273-10942273 19:10831597-10831597
50 DNM2 NM_001005360.2(DNM2):c.-153G>TSNV Uncertain significance 327970 rs886054138 19:10828766-10828766 19:10718090-10718090

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

73
# 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

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
12.9 SBF2 RAB7B RAB7A GJB1 DNM2 DNM1
2 11.45 RAB7A DNM2 DNM1
3
Show member pathways
11.32 GJB1 DNM2 DNM1
4 11.09 SBF2 RAB7B RAB7A
5 11.03 RAB7B RAB7A DNM2 DNM1

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:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 10.18 YARS1 SBF2 RAB7A PLEK MTMR2 MTM1
2 cytoplasmic vesicle GO:0031410 9.83 SH3TC2 RAB7B RAB7A DNM2 DNM1
3 axon GO:0030424 9.8 SBF2 MTMR2 DNM2 DNM1
4 lysosome GO:0005764 9.76 RAB7B RAB7A MPZ LITAF
5 dendritic spine GO:0043197 9.69 MTMR2 DNM2 DNM1
6 late endosome GO:0005770 9.65 RAB7B RAB7A MTM1
7 endosome membrane GO:0010008 9.56 SBF2 RAB7A MTMR2 LITAF
8 late endosome membrane GO:0031902 9.54 RAB7B RAB7A LITAF
9 vacuolar membrane GO:0005774 9.52 SBF2 MTMR2
10 phagocytic vesicle membrane GO:0030670 9.33 RAB7B RAB7A DNM2
11 dendritic spine head GO:0044327 9.32 DNM2 DNM1
12 endosome GO:0005768 9.17 SBF2 RAB7B RAB7A MTMR2 MTM1 LITAF
13 postsynaptic endocytic zone membrane GO:0098844 8.96 DNM2 DNM1

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

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol dephosphorylation GO:0046856 9.49 MTMR2 MTM1
2 phosphatidylinositol metabolic process GO:0046488 9.48 PLEK MTMR2
3 G protein-coupled receptor internalization GO:0002031 9.46 DNM2 DNM1
4 regulation of synapse structure or activity GO:0050803 9.43 DNM2 DNM1
5 postsynaptic neurotransmitter receptor internalization GO:0098884 9.4 DNM2 DNM1
6 phagosome-lysosome fusion GO:0090385 9.37 RAB7B RAB7A
7 dynamin family protein polymerization involved in mitochondrial fission GO:0003374 9.32 DNM2 DNM1
8 organelle fission GO:0048285 9.26 DNM2 DNM1
9 synaptic vesicle budding from presynaptic endocytic zone membrane GO:0016185 9.16 DNM2 DNM1
10 endosome to lysosome transport GO:0008333 9.13 RAB7B RAB7A MTM1
11 mitochondrial fission GO:0000266 8.8 GDAP1 DNM2 DNM1

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

# Name GO ID Score Top Affiliating Genes
1 GTP binding GO:0005525 9.67 RAB7B RAB7A DNM2 DNM1
2 GTPase activity GO:0003924 9.56 RAB7B RAB7A DNM2 DNM1
3 WW domain binding GO:0050699 9.4 LITAF DNM2
4 phosphatidylinositol-3-phosphatase activity GO:0004438 9.32 MTMR2 MTM1
5 nitric-oxide synthase binding GO:0050998 9.16 DNM2 DNM1
6 phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity GO:0052629 8.96 MTMR2 MTM1
7 D2 dopamine receptor binding GO:0031749 8.62 DNM2 DNM1

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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